SMC1A

Functionⁱ

Involved in chromosome cohesion during cell cycle and in DNA repair. Central component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Involved in DNA repair via its interaction with BRCA1 and its related phosphorylation by ATM, or via its phosphorylation by ATR. Works as a downstream effector both in the ATM/NBS1 branch and in the ATR/MSH2 branch of S-phase checkpoint.1 Publication

Regions

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Nucleotide bindingⁱ	32 – 39	8	ATPSequence analysis

GO - Molecular functionⁱ

ATP binding Source: UniProtKB-KW
chromatin binding
Source: UniProtKB
Inferred from direct assayⁱ
- 11076961
poly(A) RNA binding
Source: UniProtKB
Inferred from direct assayⁱ
- 22681889
protein heterodimerization activity
Source: UniProtKB
Inferred from physical interactionⁱ
- 11076961
- 11590136

GO - Biological processⁱ

cell division Source: UniProtKB-KW
DNA repair
Source: UniProtKB
Traceable author statementⁱ
- 11877377
meiotic nuclear division Source: UniProtKB
mitotic cell cycle checkpoint
Source: UniProtKB
Inferred from direct assayⁱ
- 11877377
mitotic sister chromatid cohesion
Source: UniProtKB
Traceable author statementⁱ
- 12199140
mitotic sister chromatid segregation
Source: UniProtKB
Traceable author statementⁱ
- 7757074
mitotic spindle organization
Source: UniProtKB
Traceable author statementⁱ
- 12199140
negative regulation of DNA endoreduplication
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 15917200
protein sumoylation Source: Reactome
response to radiation
Source: UniProtKB
Inferred from expression patternⁱ
- 11877377
signal transduction in response to DNA damage
Source: UniProtKB
Inferred from direct assayⁱ
- 11877377
sister chromatid cohesion
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 15917200
stem cell population maintenance Source: Ensembl

Complete GO annotation...

Keywords - Biological processⁱ

Cell cycle, Cell division, DNA damage, DNA repair, Meiosis, Mitosis

Keywords - Ligandⁱ

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactomeⁱ	R-HSA-1221632. Meiotic synapsis. R-HSA-2467813. Separation of Sister Chromatids. R-HSA-2468052. Establishment of Sister Chromatid Cohesion. R-HSA-2470946. Cohesin Loading onto Chromatin. R-HSA-2500257. Resolution of Sister Chromatid Cohesion. R-HSA-3108214. SUMOylation of DNA damage response and repair proteins.
SignaLinkⁱ	Q14683.
SIGNORⁱ	Q14683.

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Structural maintenance of chromosomes protein 1A Short name: SMC protein 1A Short name: SMC-1-alpha Short name: SMC-1A Alternative name(s): Sb1.8
Gene namesⁱ	Name:SMC1A Synonyms:DXS423E, KIAA0178, SB1.8, SMC1, SMC1L1
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome X

Organism-specific databases

HGNCⁱ	HGNC:11111. SMC1A.

HGNCⁱ

HGNC:11111. SMC1A.

Subcellular locationⁱ

Nucleus
1 Publication
Manual assertion based on experiment inⁱ
- Ref.10
  "Localization of human SMC1 protein at kinetochores."
  Gregson H.C., Van Hooser A.A., Ball A.R. Jr., Brinkley B.R., Yokomori K.
  Chromosome Res. 10:267-277(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: SUBCELLULAR LOCATION DURING CELL CYCLE.
Chromosome
1 Publication
Manual assertion based on experiment inⁱ
- Ref.10
  "Localization of human SMC1 protein at kinetochores."
  Gregson H.C., Van Hooser A.A., Ball A.R. Jr., Brinkley B.R., Yokomori K.
  Chromosome Res. 10:267-277(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: SUBCELLULAR LOCATION DURING CELL CYCLE.
Chromosome › centromere › kinetochore
1 Publication
Manual assertion based on experiment inⁱ
- Ref.10
  "Localization of human SMC1 protein at kinetochores."
  Gregson H.C., Van Hooser A.A., Ball A.R. Jr., Brinkley B.R., Yokomori K.
  Chromosome Res. 10:267-277(2002) [PubMed] [Europe PMC] [Abstract]
  Cited for: SUBCELLULAR LOCATION DURING CELL CYCLE.

Note:

Associates with chromatin. Before prophase it is scattered along chromosome arms. During prophase, most of cohesin complexes dissociate from chromatin probably because of phosphorylation by PLK, except at centromeres, where cohesin complexes remain. At anaphase, the RAD21 subunit of the cohesin complex is cleaved, leading to the dissociation of the complex from chromosomes, allowing chromosome separation. In germ cells, cohesin complex dissociates from chromatin at prophase I, and may be replaced by a meiosis-specific cohesin complex. The phosphorylated form on Ser-957 and Ser-966 associates with chromatin during G1/S/G2 phases but not during M phase, suggesting that phosphorylation does not regulate cohesin function. Integral component of the functional centromere-kinetochore complex at the kinetochore region during mitosis.

GO - Cellular componentⁱ

chromosome Source: Reactome
chromosome, centromeric region Source: Reactome
cohesin core heterodimer
Source: UniProtKB
Traceable author statementⁱ
- 11076961
condensed chromosome kinetochore Source: UniProtKB-SubCell
condensed nuclear chromosome
Source: ProtInc
Traceable author statementⁱ
- 7757074
cytoplasm Source: HPA
cytosol Source: Reactome
kinetochore
Source: UniProtKB
Inferred from direct assayⁱ
- 12199140
meiotic cohesin complex
Source: UniProtKB
Inferred from direct assayⁱ
- 21242291
nucleoplasm Source: HPA
nucleus
Source: UniProtKB
Inferred from direct assayⁱ
- 11076961

Complete GO annotation...

Keywords - Cellular componentⁱ

Centromere, Chromosome, Kinetochore, Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Cornelia de Lange syndrome 2 (CDLS2)6 Publications
Manual assertion based on experiment inⁱ
Ref.23
"X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations."
Musio A., Selicorni A., Focarelli M.L., Gervasini C., Milani D., Russo S., Vezzoni P., Larizza L.
Nat. Genet. 38:528-530(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CDLS2 ALA-493 AND GLN-832 DEL.
Ref.24
"Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation."
Deardorff M.A., Kaur M., Yaeger D., Rampuria A., Korolev S., Pie J., Gil-Rodriguez C., Arnedo M., Loeys B., Kline A.D., Wilson M., Lillquist K., Siu V., Ramos F.J., Musio A., Jackson L.S., Dorsett D., Krantz I.D.
Am. J. Hum. Genet. 80:485-494(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; HIS-196; CYS-496; HIS-496; TRP-711; GLN-790 AND LEU-1122.
Ref.25
"Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations."
Borck G., Zarhrate M., Bonnefont J.-P., Munnich A., Cormier-Daire V., Colleaux L.
Hum. Mutat. 28:205-206(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CDLS2 HIS-196 AND CYS-1085.
Ref.27
"SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome."
Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D.
Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.
Ref.28
"Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome."
Pie J., Gil-Rodriguez M.C., Ciero M., Lopez-Vinas E., Ribate M.P., Arnedo M., Deardorff M.A., Puisac B., Legarreta J., de Karam J.C., Rubio E., Bueno I., Baldellou A., Calvo M.T., Casals N., Olivares J.L., Losada A., Hegardt F.G.
, Krantz I.D., Gomez-Puertas P., Ramos F.J.
Am. J. Med. Genet. A 152:924-929(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CDLS2 HIS-196; LYS-268 DEL AND GLN-711.
Ref.29
"Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A."
Limongelli G., Russo S., Digilio M.C., Masciadri M., Pacileo G., Fratta F., Martone F., Maddaloni V., D'Alessandro R., Calabro P., Russo M.G., Calabro R., Larizza L.
Am. J. Med. Genet. A 152:2127-2129(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CDLS2 THR-784.

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.

See also OMIM:300590

Feature key	Position(s)	Length	Description	Feature identifier
Natural variantⁱ	58 – 62	5	Missing in CDLS2. 2 Publications Manual assertion based on experiment inⁱ Ref.24 "Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation." Deardorff M.A., Kaur M., Yaeger D., Rampuria A., Korolev S., Pie J., Gil-Rodriguez C., Arnedo M., Loeys B., Kline A.D., Wilson M., Lillquist K., Siu V., Ramos F.J., Musio A., Jackson L.S., Dorsett D., Krantz I.D. Am. J. Hum. Genet. 80:485-494(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; HIS-196; CYS-496; HIS-496; TRP-711; GLN-790 AND LEU-1122. Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062785
Natural variantⁱ	133 – 133	1	F → V in CDLS2. 2 Publications Manual assertion based on experiment inⁱ Ref.24 "Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation." Deardorff M.A., Kaur M., Yaeger D., Rampuria A., Korolev S., Pie J., Gil-Rodriguez C., Arnedo M., Loeys B., Kline A.D., Wilson M., Lillquist K., Siu V., Ramos F.J., Musio A., Jackson L.S., Dorsett D., Krantz I.D. Am. J. Hum. Genet. 80:485-494(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; HIS-196; CYS-496; HIS-496; TRP-711; GLN-790 AND LEU-1122. Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062786
Natural variantⁱ	141 – 141	1	E → K in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123. Corresponds to variant rs587784420 [ dbSNP \| Ensembl ].	VAR_062787
Natural variantⁱ	196 – 196	1	R → H in CDLS2. 4 Publications Manual assertion based on experiment inⁱ Ref.24 "Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation." Deardorff M.A., Kaur M., Yaeger D., Rampuria A., Korolev S., Pie J., Gil-Rodriguez C., Arnedo M., Loeys B., Kline A.D., Wilson M., Lillquist K., Siu V., Ramos F.J., Musio A., Jackson L.S., Dorsett D., Krantz I.D. Am. J. Hum. Genet. 80:485-494(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; HIS-196; CYS-496; HIS-496; TRP-711; GLN-790 AND LEU-1122. Ref.25 "Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations." Borck G., Zarhrate M., Bonnefont J.-P., Munnich A., Cormier-Daire V., Colleaux L. Hum. Mutat. 28:205-206(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 HIS-196 AND CYS-1085. Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123. Ref.28 "Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome." Pie J., Gil-Rodriguez M.C., Ciero M., Lopez-Vinas E., Ribate M.P., Arnedo M., Deardorff M.A., Puisac B., Legarreta J., de Karam J.C., Rubio E., Bueno I., Baldellou A., Calvo M.T., Casals N., Olivares J.L., Losada A., Hegardt F.G. , Krantz I.D., Gomez-Puertas P., Ramos F.J. Am. J. Med. Genet. A 152:924-929(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 HIS-196; LYS-268 DEL AND GLN-711.	VAR_062788
Natural variantⁱ	268 – 268	1	Missing in CDLS2. 2 Publications Manual assertion based on experiment inⁱ Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123. Ref.28 "Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome." Pie J., Gil-Rodriguez M.C., Ciero M., Lopez-Vinas E., Ribate M.P., Arnedo M., Deardorff M.A., Puisac B., Legarreta J., de Karam J.C., Rubio E., Bueno I., Baldellou A., Calvo M.T., Casals N., Olivares J.L., Losada A., Hegardt F.G. , Krantz I.D., Gomez-Puertas P., Ramos F.J. Am. J. Med. Genet. A 152:924-929(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 HIS-196; LYS-268 DEL AND GLN-711.	VAR_062789
Natural variantⁱ	306 – 306	1	Missing in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062790
Natural variantⁱ	398 – 398	1	R → Q in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123. Corresponds to variant rs587784403 [ dbSNP \| Ensembl ].	VAR_062791
Natural variantⁱ	493 – 493	1	E → A in CDLS2; affects the affinity of SMC hinge dimers for DNA; mutated hinge dimers bind DNA with higher affinity than wild-type proteins. 2 Publications Manual assertion based on experiment inⁱ Ref.23 "X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations." Musio A., Selicorni A., Focarelli M.L., Gervasini C., Milani D., Russo S., Vezzoni P., Larizza L. Nat. Genet. 38:528-530(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 ALA-493 AND GLN-832 DEL. Ref.26 "Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA." Revenkova E., Focarelli M.L., Susani L., Paulis M., Bassi M.T., Mannini L., Frattini A., Delia D., Krantz I., Vezzoni P., Jessberger R., Musio A. Hum. Mol. Genet. 18:418-427(2009) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS CDLS2 ALA-493; CYS-496 AND HIS-496, GENOMIC INSTABILITY OF CDLS CELL LINES TO IONIZING RADIATION. Corresponds to variant rs122454122 [ dbSNP \| Ensembl ].	VAR_026529
Natural variantⁱ	496 – 496	1	R → C in CDLS2; affects the affinity of SMC hinge dimers for DNA; mutated hinge dimers bind DNA with higher affinity than wild-type proteins. 3 Publications Manual assertion based on experiment inⁱ Ref.24 "Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation." Deardorff M.A., Kaur M., Yaeger D., Rampuria A., Korolev S., Pie J., Gil-Rodriguez C., Arnedo M., Loeys B., Kline A.D., Wilson M., Lillquist K., Siu V., Ramos F.J., Musio A., Jackson L.S., Dorsett D., Krantz I.D. Am. J. Hum. Genet. 80:485-494(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; HIS-196; CYS-496; HIS-496; TRP-711; GLN-790 AND LEU-1122. Ref.26 "Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA." Revenkova E., Focarelli M.L., Susani L., Paulis M., Bassi M.T., Mannini L., Frattini A., Delia D., Krantz I., Vezzoni P., Jessberger R., Musio A. Hum. Mol. Genet. 18:418-427(2009) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS CDLS2 ALA-493; CYS-496 AND HIS-496, GENOMIC INSTABILITY OF CDLS CELL LINES TO IONIZING RADIATION. Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062792
Natural variantⁱ	496 – 496	1	R → H in CDLS2; affects the affinity of SMC hinge dimers for DNA; mutated hinge dimers bind DNA with higher affinity than wild-type proteins. 3 Publications Manual assertion based on experiment inⁱ Ref.24 "Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation." Deardorff M.A., Kaur M., Yaeger D., Rampuria A., Korolev S., Pie J., Gil-Rodriguez C., Arnedo M., Loeys B., Kline A.D., Wilson M., Lillquist K., Siu V., Ramos F.J., Musio A., Jackson L.S., Dorsett D., Krantz I.D. Am. J. Hum. Genet. 80:485-494(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; HIS-196; CYS-496; HIS-496; TRP-711; GLN-790 AND LEU-1122. Ref.26 "Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA." Revenkova E., Focarelli M.L., Susani L., Paulis M., Bassi M.T., Mannini L., Frattini A., Delia D., Krantz I., Vezzoni P., Jessberger R., Musio A. Hum. Mol. Genet. 18:418-427(2009) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS CDLS2 ALA-493; CYS-496 AND HIS-496, GENOMIC INSTABILITY OF CDLS CELL LINES TO IONIZING RADIATION. Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123. Corresponds to variant rs122454123 [ dbSNP \| Ensembl ].	VAR_062793
Natural variantⁱ	683 – 683	1	Missing in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062794
Natural variantⁱ	693 – 693	1	R → G in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062795
Natural variantⁱ	711 – 711	1	R → Q in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.28 "Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome." Pie J., Gil-Rodriguez M.C., Ciero M., Lopez-Vinas E., Ribate M.P., Arnedo M., Deardorff M.A., Puisac B., Legarreta J., de Karam J.C., Rubio E., Bueno I., Baldellou A., Calvo M.T., Casals N., Olivares J.L., Losada A., Hegardt F.G. , Krantz I.D., Gomez-Puertas P., Ramos F.J. Am. J. Med. Genet. A 152:924-929(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 HIS-196; LYS-268 DEL AND GLN-711. Corresponds to variant rs782176647 [ dbSNP \| Ensembl ].	VAR_064542
Natural variantⁱ	711 – 711	1	R → W in CDLS2. 2 Publications Manual assertion based on experiment inⁱ Ref.24 "Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation." Deardorff M.A., Kaur M., Yaeger D., Rampuria A., Korolev S., Pie J., Gil-Rodriguez C., Arnedo M., Loeys B., Kline A.D., Wilson M., Lillquist K., Siu V., Ramos F.J., Musio A., Jackson L.S., Dorsett D., Krantz I.D. Am. J. Hum. Genet. 80:485-494(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; HIS-196; CYS-496; HIS-496; TRP-711; GLN-790 AND LEU-1122. Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123. Corresponds to variant rs587784409 [ dbSNP \| Ensembl ].	VAR_062796
Natural variantⁱ	781 – 781	1	C → F in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062797
Natural variantⁱ	784 – 784	1	I → T in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.29 "Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A." Limongelli G., Russo S., Digilio M.C., Masciadri M., Pacileo G., Fratta F., Martone F., Maddaloni V., D'Alessandro R., Calabro P., Russo M.G., Calabro R., Larizza L. Am. J. Med. Genet. A 152:2127-2129(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CDLS2 THR-784. Corresponds to variant rs387906702 [ dbSNP \| Ensembl ].	VAR_064543
Natural variantⁱ	790 – 790	1	R → Q in CDLS2. 2 Publications Manual assertion based on experiment inⁱ Ref.24 "Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation." Deardorff M.A., Kaur M., Yaeger D., Rampuria A., Korolev S., Pie J., Gil-Rodriguez C., Arnedo M., Loeys B., Kline A.D., Wilson M., Lillquist K., Siu V., Ramos F.J., Musio A., Jackson L.S., Dorsett D., Krantz I.D. Am. J. Hum. Genet. 80:485-494(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; HIS-196; CYS-496; HIS-496; TRP-711; GLN-790 AND LEU-1122. Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062798
Natural variantⁱ	816 – 816	1	R → G in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062799
Natural variantⁱ	832 – 832	1	Missing in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.23 "X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations." Musio A., Selicorni A., Focarelli M.L., Gervasini C., Milani D., Russo S., Vezzoni P., Larizza L. Nat. Genet. 38:528-530(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 ALA-493 AND GLN-832 DEL.	VAR_026530
Natural variantⁱ	1049 – 1049	1	R → Q in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123. Corresponds to variant rs587784416 [ dbSNP \| Ensembl ].	VAR_062800
Natural variantⁱ	1085 – 1085	1	Y → C in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.25 "Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations." Borck G., Zarhrate M., Bonnefont J.-P., Munnich A., Cormier-Daire V., Colleaux L. Hum. Mutat. 28:205-206(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 HIS-196 AND CYS-1085. Corresponds to variant rs587784418 [ dbSNP \| Ensembl ].	VAR_062801
Natural variantⁱ	1122 – 1122	1	F → L in CDLS2. 2 Publications Manual assertion based on experiment inⁱ Ref.24 "Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation." Deardorff M.A., Kaur M., Yaeger D., Rampuria A., Korolev S., Pie J., Gil-Rodriguez C., Arnedo M., Loeys B., Kline A.D., Wilson M., Lillquist K., Siu V., Ramos F.J., Musio A., Jackson L.S., Dorsett D., Krantz I.D. Am. J. Hum. Genet. 80:485-494(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; HIS-196; CYS-496; HIS-496; TRP-711; GLN-790 AND LEU-1122. Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062802
Natural variantⁱ	1123 – 1123	1	R → W in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062803

Mutagenesis

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Mutagenesisⁱ	957 – 957	1	S → A: Reduces phosphorylation and the S-phase checkpoint activation. Abolishes S-phase activation; when associated with A-966. 1 Publication Manual assertion based on experiment inⁱ Ref.6 "SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint." Yazdi P.T., Wang Y., Zhao S., Patel N., Lee E.Y.-H.P., Qin J. Genes Dev. 16:571-582(2002) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 945-984, FUNCTION, INTERACTION WITH BRCA1, PHOSPHORYLATION AT SER-957 AND SER-966, MUTAGENESIS OF SER-957 AND SER-966.
Mutagenesisⁱ	966 – 966	1	S → A: Reduces phosphorylation and the S-phase checkpoint activation. Increases sensitivity to DNA methylation. Abolishes S-phase activation; when associated with A-957. 2 Publications Manual assertion based on experiment inⁱ Ref.6 "SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint." Yazdi P.T., Wang Y., Zhao S., Patel N., Lee E.Y.-H.P., Qin J. Genes Dev. 16:571-582(2002) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 945-984, FUNCTION, INTERACTION WITH BRCA1, PHOSPHORYLATION AT SER-957 AND SER-966, MUTAGENESIS OF SER-957 AND SER-966. Ref.11 "MSH2 and ATR form a signaling module and regulate two branches of the damage response to DNA methylation." Wang Y., Qin J. Proc. Natl. Acad. Sci. U.S.A. 100:15387-15392(2003) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION AT SER-966, MUTAGENESIS OF SER-966.

Keywords - Diseaseⁱ

Disease mutation, Mental retardation

Organism-specific databases

MalaCardsⁱ	SMC1A.
MIMⁱ	300590. phenotype.
Orphanetⁱ	199. Cornelia de Lange syndrome.
PharmGKBⁱ	PA35961.

Polymorphism and mutation databases

DMDMⁱ	29336622.

DMDMⁱ

29336622.

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Chainⁱ	1 – 1233	1233	Structural maintenance of chromosomes protein 1A		PRO_0000118989	Add BLAST

Amino acid modifications

Feature key	Position(s)	Length	Description
Modified residueⁱ	358 – 358	1	PhosphoserineCombined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ Ref.13 "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-358; SER-360 AND SER-966, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Modified residueⁱ	360 – 360	1	PhosphoserineCombined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ Ref.13 "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-358; SER-360 AND SER-966, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Ref.14 "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-360; SER-957 AND SER-970, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Ref.17 "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-360; SER-957 AND SER-966, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Ref.21 "Toward a comprehensive characterization of a human cancer cell phosphoproteome." Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S. J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-360; SER-957 AND SER-962, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Modified residueⁱ	648 – 648	1	N6-acetyllysineCombined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ Ref.16 "Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-648 AND LYS-713, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Modified residueⁱ	713 – 713	1	N6-acetyllysineCombined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ Ref.16 "Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-648 AND LYS-713, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Modified residueⁱ	957 – 957	1	Phosphoserine; by ATMCombined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ Ref.14 "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-360; SER-957 AND SER-970, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Ref.15 "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-957, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Ref.17 "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-360; SER-957 AND SER-966, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Ref.21 "Toward a comprehensive characterization of a human cancer cell phosphoproteome." Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S. J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-360; SER-957 AND SER-962, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. 1 Publication Manual assertion based on experiment inⁱ Ref.6 "SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint." Yazdi P.T., Wang Y., Zhao S., Patel N., Lee E.Y.-H.P., Qin J. Genes Dev. 16:571-582(2002) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 945-984, FUNCTION, INTERACTION WITH BRCA1, PHOSPHORYLATION AT SER-957 AND SER-966, MUTAGENESIS OF SER-957 AND SER-966.
Modified residueⁱ	962 – 962	1	PhosphoserineCombined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ Ref.21 "Toward a comprehensive characterization of a human cancer cell phosphoproteome." Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S. J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-360; SER-957 AND SER-962, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Modified residueⁱ	966 – 966	1	Phosphoserine; by ATM and ATRCombined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ Ref.13 "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-358; SER-360 AND SER-966, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Ref.17 "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-360; SER-957 AND SER-966, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. 3 Publications Manual assertion based on experiment inⁱ Ref.6 "SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint." Yazdi P.T., Wang Y., Zhao S., Patel N., Lee E.Y.-H.P., Qin J. Genes Dev. 16:571-582(2002) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 945-984, FUNCTION, INTERACTION WITH BRCA1, PHOSPHORYLATION AT SER-957 AND SER-966, MUTAGENESIS OF SER-957 AND SER-966. Ref.11 "MSH2 and ATR form a signaling module and regulate two branches of the damage response to DNA methylation." Wang Y., Qin J. Proc. Natl. Acad. Sci. U.S.A. 100:15387-15392(2003) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION AT SER-966, MUTAGENESIS OF SER-966. Ref.19 "Functional interaction of BRCA1/ATM-associated BAAT1 with the DNA-PK catalytic subunit." So E.Y., Ouchi T. Exp. Ther. Med. 2:443-447(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH BRAT1, PHOSPHORYLATION AT SER-966.
Modified residueⁱ	970 – 970	1	PhosphoserineCombined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ Ref.14 "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-360; SER-957 AND SER-970, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Modified residueⁱ	1037 – 1037	1	N6-acetyllysineBy similarity Manual assertion inferred from sequence similarity toⁱ UniProtKB:Q9CU62 (SMC1A_MOUSE)

Post-translational modificationⁱ

Phosphorylated by ATM upon ionizing radiation in a NBS1-dependent manner. Phosphorylated by ATR upon DNA methylation in a MSH2/MSH6-dependent manner. Phosphorylation of Ser-957 and Ser-966 activates it and is required for S-phase checkpoint activation.2 Publications

Keywords - PTMⁱ

Acetylation, Phosphoprotein

Proteomic databases

EPDⁱ	Q14683.
MaxQBⁱ	Q14683.
PaxDbⁱ	Q14683.
PeptideAtlasⁱ	Q14683.
PRIDEⁱ	Q14683.

PTM databases

iPTMnetⁱ	Q14683.
PhosphoSiteⁱ	Q14683.
SwissPalmⁱ	Q14683.

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000072501.
CleanExⁱ	HS_SMC1A.
ExpressionAtlasⁱ	Q14683. baseline and differential.
Genevisibleⁱ	Q14683. HS.

Organism-specific databases

HPAⁱ	CAB025404. HPA005499.

Interactionⁱ

Subunit structureⁱ

Interacts with POLE. Interacts with SYCP2. Interacts with BRCA1. Found in a complex with CDCA5, SMC3 and RAD21, PDS5A/SCC-112 and PDS5B/APRIN (By similarity). Forms a heterodimer with SMC3 in cohesin complexes. Cohesin complexes are composed of the SMC1 (SMC1A or SMC1B) and SMC3 heterodimer attached via their hinge domain, RAD21 which link them, and one STAG protein (STAG1, STAG2 or STAG3), which interacts with RAD21. In germ cell cohesin complexes, SMC1A is mutually exclusive with SMC1B. Interacts with BRCA1. Interacts with NDC80. Interacts with RPGR. Interacts with BRAT1.By similarity6 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
	Q99IB8	3	EBI-80690,EBI-6927928	From a different organism.
MCM7	P33993	8	EBI-80690,EBI-355924

With

Entry

#Exp.

IntAct

Notes

Q99IB8

3

EBI-80690,EBI-6927928

From a different organism.

MCM7

P33993

8

EBI-80690,EBI-355924

GO - Molecular functionⁱ

protein heterodimerization activity
Source: UniProtKB
Inferred from physical interactionⁱ
- 11076961
- 11590136

Protein-protein interaction databases

BioGridⁱ	113871. 135 interactions.
DIPⁱ	DIP-30911N.
IntActⁱ	Q14683. 79 interactions.
MINTⁱ	MINT-233274.
STRINGⁱ	9606.ENSP00000323421.

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q14683.
SMRⁱ	Q14683. Positions 499-675.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Region

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Regionⁱ	504 – 659	156	Flexible hinge			Add BLAST

Coiled coil

Feature key	Position(s)	Length	Description	Actions
Coiled coilⁱ	104 – 124	21	Sequence analysis	Add BLAST
Coiled coilⁱ	163 – 503	341	Sequence analysis	Add BLAST
Coiled coilⁱ	660 – 935	276	Sequence analysis	Add BLAST
Coiled coilⁱ	991 – 1068	78	Sequence analysis	Add BLAST

Compositional bias

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Compositional biasⁱ	1128 – 1163	36	Ala/Asp-rich (DA-box)			Add BLAST

Domainⁱ

The flexible hinge domain, which separates the large intramolecular coiled coil regions, allows the heterotypic interaction with the corresponding domain of SMC3, forming a V-shaped heterodimer. The two heads of the heterodimer are then connected by different ends of the cleavable RAD21 protein, forming a ring structure (By similarity).By similarity

Sequence similaritiesⁱ

Belongs to the SMC family. SMC1 subfamily.Curated

Keywords - Domainⁱ

Coiled coil

Phylogenomic databases

eggNOGⁱ	KOG0018. Eukaryota. COG1196. LUCA.
GeneTreeⁱ	ENSGT00580000081569.
HOGENOMⁱ	HOG000195481.
HOVERGENⁱ	HBG039593.
InParanoidⁱ	Q14683.
KOⁱ	K06636.
OMAⁱ	KHMDFQR.
OrthoDBⁱ	EOG091G00R5.
PhylomeDBⁱ	Q14683.
TreeFamⁱ	TF101156.

Family and domain databases

Gene3Dⁱ	3.40.50.300. 4 hits.
InterProⁱ	IPR027417. P-loop_NTPase. IPR003395. RecF/RecN/SMC_N. IPR024704. SMC. IPR029683. SMC1A_metazoan. IPR010935. SMC_hinge. [Graphical view]
PANTHERⁱ	PTHR18937:SF170. PTHR18937:SF170. 3 hits.
Pfamⁱ	PF06470. SMC_hinge. 1 hit. PF02463. SMC_N. 1 hit. [Graphical view]
PIRSFⁱ	PIRSF005719. SMC. 1 hit.
SMARTⁱ	SM00968. SMC_hinge. 1 hit. [Graphical view]
SUPFAMⁱ	SSF52540. SSF52540. 2 hits. SSF75553. SSF75553. 1 hit.

Sequenceⁱ

Sequence statusⁱ: Complete.

Q14683-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MGFLKLIEIE NFKSYKGRQI IGPFQRFTAI IGPNGSGKSN LMDAISFVLG 
        60         70         80         90        100
EKTSNLRVKT LRDLIHGAPV GKPAANRAFV SMVYSEEGAE DRTFARVIVG 
       110        120        130        140        150
GSSEYKINNK VVQLHEYSEE LEKLGILIKA RNFLVFQGAV ESIAMKNPKE 
       160        170        180        190        200
RTALFEEISR SGELAQEYDK RKKEMVKAEE DTQFNYHRKK NIAAERKEAK 
       210        220        230        240        250
QEKEEADRYQ RLKDEVVRAQ VQLQLFKLYH NEVEIEKLNK ELASKNKEIE 
       260        270        280        290        300
KDKKRMDKVE DELKEKKKEL GKMMREQQQI EKEIKEKDSE LNQKRPQYIK 
       310        320        330        340        350
AKENTSHKIK KLEAAKKSLQ NAQKHYKKRK GDMDELEKEM LSVEKARQEF 
       360        370        380        390        400
EERMEEESQS QGRDLTLEEN QVKKYHRLKE EASKRAATLA QELEKFNRDQ 
       410        420        430        440        450
KADQDRLDLE ERKKVETEAK IKQKLREIEE NQKRIEKLEE YITTSKQSLE 
       460        470        480        490        500
EQKKLEGELT EEVEMAKRRI DEINKELNQV MEQLGDARID RQESSRQQRK 
       510        520        530        540        550
AEIMESIKRL YPGSVYGRLI DLCQPTQKKY QIAVTKVLGK NMDAIIVDSE 
       560        570        580        590        600
KTGRDCIQYI KEQRGEPETF LPLDYLEVKP TDEKLRELKG AKLVIDVIRY 
       610        620        630        640        650
EPPHIKKALQ YACGNALVCD NVEDARRIAF GGHQRHKTVA LDGTLFQKSG 
       660        670        680        690        700
VISGGASDLK AKARRWDEKA VDKLKEKKER LTEELKEQMK AKRKEAELRQ 
       710        720        730        740        750
VQSQAHGLQM RLKYSQSDLE QTKTRHLALN LQEKSKLESE LANFGPRIND 
       760        770        780        790        800
IKRIIQSRER EMKDLKEKMN QVEDEVFEEF CREIGVRNIR EFEEEKVKRQ 
       810        820        830        840        850
NEIAKKRLEF ENQKTRLGIQ LDFEKNQLKE DQDKVHMWEQ TVKKDENEIE 
       860        870        880        890        900
KLKKEEQRHM KIIDETMAQL QDLKNQHLAK KSEVNDKNHE MEEIRKKLGG 
       910        920        930        940        950
ANKEMTHLQK EVTAIETKLE QKRSDRHNLL QACKMQDIKL PLSKGTMDDI 
       960        970        980        990       1000
SQEEGSSQGE DSVSGSQRIS SIYAREALIE IDYGDLCEDL KDAQAEEEIK 
      1010       1020       1030       1040       1050
QEMNTLQQKL NEQQSVLQRI AAPNMKAMEK LESVRDKFQE TSDEFEAARK 
      1060       1070       1080       1090       1100
RAKKAKQAFE QIKKERFDRF NACFESVATN IDEIYKALSR NSSAQAFLGP 
      1110       1120       1130       1140       1150
ENPEEPYLDG INYNCVAPGK RFRPMDNLSG GEKTVAALAL LFAIHSYKPA 
      1160       1170       1180       1190       1200
PFFVLDEIDA ALDNTNIGKV ANYIKEQSTC NFQAIVISLK EEFYTKAESL 
      1210       1220       1230 
IGVYPEQGDC VISKVLTFDL TKYPDANPNP NEQ

Length:1,233

Mass (Da):143,233

Last modified:October 1, 2002 - v2

Checksum:ⁱE0A44CA7476C88A6

GO

Experimental Info

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Sequence conflictⁱ	163 – 164	2	EL → DV in AAB34405 (PubMed:7757074).Curated

Natural variant

Feature key	Position(s)	Length	Description	Feature identifier
Natural variantⁱ	28 – 28	1	T → P. Corresponds to variant rs34530151 [ dbSNP \| Ensembl ].	VAR_052438
Natural variantⁱ	58 – 62	5	Missing in CDLS2. 2 Publications Manual assertion based on experiment inⁱ Ref.24 "Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation." Deardorff M.A., Kaur M., Yaeger D., Rampuria A., Korolev S., Pie J., Gil-Rodriguez C., Arnedo M., Loeys B., Kline A.D., Wilson M., Lillquist K., Siu V., Ramos F.J., Musio A., Jackson L.S., Dorsett D., Krantz I.D. Am. J. Hum. Genet. 80:485-494(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; HIS-196; CYS-496; HIS-496; TRP-711; GLN-790 AND LEU-1122. Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062785
Natural variantⁱ	133 – 133	1	F → V in CDLS2. 2 Publications Manual assertion based on experiment inⁱ Ref.24 "Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation." Deardorff M.A., Kaur M., Yaeger D., Rampuria A., Korolev S., Pie J., Gil-Rodriguez C., Arnedo M., Loeys B., Kline A.D., Wilson M., Lillquist K., Siu V., Ramos F.J., Musio A., Jackson L.S., Dorsett D., Krantz I.D. Am. J. Hum. Genet. 80:485-494(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; HIS-196; CYS-496; HIS-496; TRP-711; GLN-790 AND LEU-1122. Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062786
Natural variantⁱ	141 – 141	1	E → K in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123. Corresponds to variant rs587784420 [ dbSNP \| Ensembl ].	VAR_062787
Natural variantⁱ	196 – 196	1	R → H in CDLS2. 4 Publications Manual assertion based on experiment inⁱ Ref.24 "Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation." Deardorff M.A., Kaur M., Yaeger D., Rampuria A., Korolev S., Pie J., Gil-Rodriguez C., Arnedo M., Loeys B., Kline A.D., Wilson M., Lillquist K., Siu V., Ramos F.J., Musio A., Jackson L.S., Dorsett D., Krantz I.D. Am. J. Hum. Genet. 80:485-494(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; HIS-196; CYS-496; HIS-496; TRP-711; GLN-790 AND LEU-1122. Ref.25 "Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations." Borck G., Zarhrate M., Bonnefont J.-P., Munnich A., Cormier-Daire V., Colleaux L. Hum. Mutat. 28:205-206(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 HIS-196 AND CYS-1085. Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123. Ref.28 "Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome." Pie J., Gil-Rodriguez M.C., Ciero M., Lopez-Vinas E., Ribate M.P., Arnedo M., Deardorff M.A., Puisac B., Legarreta J., de Karam J.C., Rubio E., Bueno I., Baldellou A., Calvo M.T., Casals N., Olivares J.L., Losada A., Hegardt F.G. , Krantz I.D., Gomez-Puertas P., Ramos F.J. Am. J. Med. Genet. A 152:924-929(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 HIS-196; LYS-268 DEL AND GLN-711.	VAR_062788
Natural variantⁱ	268 – 268	1	Missing in CDLS2. 2 Publications Manual assertion based on experiment inⁱ Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123. Ref.28 "Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome." Pie J., Gil-Rodriguez M.C., Ciero M., Lopez-Vinas E., Ribate M.P., Arnedo M., Deardorff M.A., Puisac B., Legarreta J., de Karam J.C., Rubio E., Bueno I., Baldellou A., Calvo M.T., Casals N., Olivares J.L., Losada A., Hegardt F.G. , Krantz I.D., Gomez-Puertas P., Ramos F.J. Am. J. Med. Genet. A 152:924-929(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 HIS-196; LYS-268 DEL AND GLN-711.	VAR_062789
Natural variantⁱ	306 – 306	1	Missing in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062790
Natural variantⁱ	398 – 398	1	R → Q in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123. Corresponds to variant rs587784403 [ dbSNP \| Ensembl ].	VAR_062791
Natural variantⁱ	493 – 493	1	E → A in CDLS2; affects the affinity of SMC hinge dimers for DNA; mutated hinge dimers bind DNA with higher affinity than wild-type proteins. 2 Publications Manual assertion based on experiment inⁱ Ref.23 "X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations." Musio A., Selicorni A., Focarelli M.L., Gervasini C., Milani D., Russo S., Vezzoni P., Larizza L. Nat. Genet. 38:528-530(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 ALA-493 AND GLN-832 DEL. Ref.26 "Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA." Revenkova E., Focarelli M.L., Susani L., Paulis M., Bassi M.T., Mannini L., Frattini A., Delia D., Krantz I., Vezzoni P., Jessberger R., Musio A. Hum. Mol. Genet. 18:418-427(2009) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS CDLS2 ALA-493; CYS-496 AND HIS-496, GENOMIC INSTABILITY OF CDLS CELL LINES TO IONIZING RADIATION. Corresponds to variant rs122454122 [ dbSNP \| Ensembl ].	VAR_026529
Natural variantⁱ	496 – 496	1	R → C in CDLS2; affects the affinity of SMC hinge dimers for DNA; mutated hinge dimers bind DNA with higher affinity than wild-type proteins. 3 Publications Manual assertion based on experiment inⁱ Ref.24 "Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation." Deardorff M.A., Kaur M., Yaeger D., Rampuria A., Korolev S., Pie J., Gil-Rodriguez C., Arnedo M., Loeys B., Kline A.D., Wilson M., Lillquist K., Siu V., Ramos F.J., Musio A., Jackson L.S., Dorsett D., Krantz I.D. Am. J. Hum. Genet. 80:485-494(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; HIS-196; CYS-496; HIS-496; TRP-711; GLN-790 AND LEU-1122. Ref.26 "Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA." Revenkova E., Focarelli M.L., Susani L., Paulis M., Bassi M.T., Mannini L., Frattini A., Delia D., Krantz I., Vezzoni P., Jessberger R., Musio A. Hum. Mol. Genet. 18:418-427(2009) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS CDLS2 ALA-493; CYS-496 AND HIS-496, GENOMIC INSTABILITY OF CDLS CELL LINES TO IONIZING RADIATION. Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062792
Natural variantⁱ	496 – 496	1	R → H in CDLS2; affects the affinity of SMC hinge dimers for DNA; mutated hinge dimers bind DNA with higher affinity than wild-type proteins. 3 Publications Manual assertion based on experiment inⁱ Ref.24 "Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation." Deardorff M.A., Kaur M., Yaeger D., Rampuria A., Korolev S., Pie J., Gil-Rodriguez C., Arnedo M., Loeys B., Kline A.D., Wilson M., Lillquist K., Siu V., Ramos F.J., Musio A., Jackson L.S., Dorsett D., Krantz I.D. Am. J. Hum. Genet. 80:485-494(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; HIS-196; CYS-496; HIS-496; TRP-711; GLN-790 AND LEU-1122. Ref.26 "Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA." Revenkova E., Focarelli M.L., Susani L., Paulis M., Bassi M.T., Mannini L., Frattini A., Delia D., Krantz I., Vezzoni P., Jessberger R., Musio A. Hum. Mol. Genet. 18:418-427(2009) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS CDLS2 ALA-493; CYS-496 AND HIS-496, GENOMIC INSTABILITY OF CDLS CELL LINES TO IONIZING RADIATION. Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123. Corresponds to variant rs122454123 [ dbSNP \| Ensembl ].	VAR_062793
Natural variantⁱ	683 – 683	1	Missing in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062794
Natural variantⁱ	693 – 693	1	R → G in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062795
Natural variantⁱ	711 – 711	1	R → Q in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.28 "Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome." Pie J., Gil-Rodriguez M.C., Ciero M., Lopez-Vinas E., Ribate M.P., Arnedo M., Deardorff M.A., Puisac B., Legarreta J., de Karam J.C., Rubio E., Bueno I., Baldellou A., Calvo M.T., Casals N., Olivares J.L., Losada A., Hegardt F.G. , Krantz I.D., Gomez-Puertas P., Ramos F.J. Am. J. Med. Genet. A 152:924-929(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 HIS-196; LYS-268 DEL AND GLN-711. Corresponds to variant rs782176647 [ dbSNP \| Ensembl ].	VAR_064542
Natural variantⁱ	711 – 711	1	R → W in CDLS2. 2 Publications Manual assertion based on experiment inⁱ Ref.24 "Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation." Deardorff M.A., Kaur M., Yaeger D., Rampuria A., Korolev S., Pie J., Gil-Rodriguez C., Arnedo M., Loeys B., Kline A.D., Wilson M., Lillquist K., Siu V., Ramos F.J., Musio A., Jackson L.S., Dorsett D., Krantz I.D. Am. J. Hum. Genet. 80:485-494(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; HIS-196; CYS-496; HIS-496; TRP-711; GLN-790 AND LEU-1122. Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123. Corresponds to variant rs587784409 [ dbSNP \| Ensembl ].	VAR_062796
Natural variantⁱ	781 – 781	1	C → F in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062797
Natural variantⁱ	784 – 784	1	I → T in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.29 "Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A." Limongelli G., Russo S., Digilio M.C., Masciadri M., Pacileo G., Fratta F., Martone F., Maddaloni V., D'Alessandro R., Calabro P., Russo M.G., Calabro R., Larizza L. Am. J. Med. Genet. A 152:2127-2129(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CDLS2 THR-784. Corresponds to variant rs387906702 [ dbSNP \| Ensembl ].	VAR_064543
Natural variantⁱ	790 – 790	1	R → Q in CDLS2. 2 Publications Manual assertion based on experiment inⁱ Ref.24 "Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation." Deardorff M.A., Kaur M., Yaeger D., Rampuria A., Korolev S., Pie J., Gil-Rodriguez C., Arnedo M., Loeys B., Kline A.D., Wilson M., Lillquist K., Siu V., Ramos F.J., Musio A., Jackson L.S., Dorsett D., Krantz I.D. Am. J. Hum. Genet. 80:485-494(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; HIS-196; CYS-496; HIS-496; TRP-711; GLN-790 AND LEU-1122. Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062798
Natural variantⁱ	816 – 816	1	R → G in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062799
Natural variantⁱ	832 – 832	1	Missing in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.23 "X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations." Musio A., Selicorni A., Focarelli M.L., Gervasini C., Milani D., Russo S., Vezzoni P., Larizza L. Nat. Genet. 38:528-530(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 ALA-493 AND GLN-832 DEL.	VAR_026530
Natural variantⁱ	1049 – 1049	1	R → Q in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123. Corresponds to variant rs587784416 [ dbSNP \| Ensembl ].	VAR_062800
Natural variantⁱ	1085 – 1085	1	Y → C in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.25 "Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations." Borck G., Zarhrate M., Bonnefont J.-P., Munnich A., Cormier-Daire V., Colleaux L. Hum. Mutat. 28:205-206(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 HIS-196 AND CYS-1085. Corresponds to variant rs587784418 [ dbSNP \| Ensembl ].	VAR_062801
Natural variantⁱ	1122 – 1122	1	F → L in CDLS2. 2 Publications Manual assertion based on experiment inⁱ Ref.24 "Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation." Deardorff M.A., Kaur M., Yaeger D., Rampuria A., Korolev S., Pie J., Gil-Rodriguez C., Arnedo M., Loeys B., Kline A.D., Wilson M., Lillquist K., Siu V., Ramos F.J., Musio A., Jackson L.S., Dorsett D., Krantz I.D. Am. J. Hum. Genet. 80:485-494(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; HIS-196; CYS-496; HIS-496; TRP-711; GLN-790 AND LEU-1122. Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062802
Natural variantⁱ	1123 – 1123	1	R → W in CDLS2. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome." Liu J., Feldman R., Zhang Z., Deardorff M.A., Haverfield E.V., Kaur M., Li J.R., Clark D., Kline A.D., Waggoner D.J., Das S., Jackson L.G., Krantz I.D. Hum. Mutat. 30:1535-1542(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123.	VAR_062803

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	S78271 mRNA. Translation: AAB34405.1. D80000 mRNA. Translation: BAA11495.2. AL161779, Z97054 Genomic DNA. Translation: CAI42089.1. Z97054, AL161779 Genomic DNA. Translation: CAI42646.1. BC112127 mRNA. Translation: AAI12128.1.
CCDSⁱ	CCDS14352.1.
PIRⁱ	I54383.
RefSeqⁱ	NP_006297.2. NM_006306.3.
UniGeneⁱ	Hs.211602.

Genome annotation databases

Ensemblⁱ	ENST00000322213; ENSP00000323421; ENSG00000072501.
GeneIDⁱ	8243.
KEGGⁱ	hsa:8243.
UCSCⁱ	uc004dsg.4. human.

Keywords - Coding sequence diversityⁱ

Polymorphism

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	S78271 mRNA. Translation: AAB34405.1. D80000 mRNA. Translation: BAA11495.2. AL161779, Z97054 Genomic DNA. Translation: CAI42089.1. Z97054, AL161779 Genomic DNA. Translation: CAI42646.1. BC112127 mRNA. Translation: AAI12128.1.
CCDSⁱ	CCDS14352.1.
PIRⁱ	I54383.
RefSeqⁱ	NP_006297.2. NM_006306.3.
UniGeneⁱ	Hs.211602.

3D structure databases

ProteinModelPortalⁱ	Q14683.
SMRⁱ	Q14683. Positions 499-675.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	113871. 135 interactions.
DIPⁱ	DIP-30911N.
IntActⁱ	Q14683. 79 interactions.
MINTⁱ	MINT-233274.
STRINGⁱ	9606.ENSP00000323421.

PTM databases

iPTMnetⁱ	Q14683.
PhosphoSiteⁱ	Q14683.
SwissPalmⁱ	Q14683.

Polymorphism and mutation databases

DMDMⁱ	29336622.

DMDMⁱ

29336622.

Proteomic databases

EPDⁱ	Q14683.
MaxQBⁱ	Q14683.
PaxDbⁱ	Q14683.
PeptideAtlasⁱ	Q14683.
PRIDEⁱ	Q14683.

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000322213; ENSP00000323421; ENSG00000072501.
GeneIDⁱ	8243.
KEGGⁱ	hsa:8243.
UCSCⁱ	uc004dsg.4. human.

Organism-specific databases

CTDⁱ	8243.
GeneCardsⁱ	SMC1A.
GeneReviewsⁱ	SMC1A.
HGNCⁱ	HGNC:11111. SMC1A.
HPAⁱ	CAB025404. HPA005499.
MalaCardsⁱ	SMC1A.
MIMⁱ	300040. gene. 300590. phenotype.
neXtProtⁱ	NX_Q14683.
Orphanetⁱ	199. Cornelia de Lange syndrome.
PharmGKBⁱ	PA35961.
HUGEⁱ	Search...
GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0018. Eukaryota. COG1196. LUCA.
GeneTreeⁱ	ENSGT00580000081569.
HOGENOMⁱ	HOG000195481.
HOVERGENⁱ	HBG039593.
InParanoidⁱ	Q14683.
KOⁱ	K06636.
OMAⁱ	KHMDFQR.
OrthoDBⁱ	EOG091G00R5.
PhylomeDBⁱ	Q14683.
TreeFamⁱ	TF101156.

Enzyme and pathway databases

Reactomeⁱ	R-HSA-1221632. Meiotic synapsis. R-HSA-2467813. Separation of Sister Chromatids. R-HSA-2468052. Establishment of Sister Chromatid Cohesion. R-HSA-2470946. Cohesin Loading onto Chromatin. R-HSA-2500257. Resolution of Sister Chromatid Cohesion. R-HSA-3108214. SUMOylation of DNA damage response and repair proteins.
SignaLinkⁱ	Q14683.
SIGNORⁱ	Q14683.

Miscellaneous databases

ChiTaRSⁱ	SMC1A. human.
GeneWikiⁱ	SMC1A.
GenomeRNAiⁱ	8243.
PROⁱ	Q14683.
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000072501.
CleanExⁱ	HS_SMC1A.
ExpressionAtlasⁱ	Q14683. baseline and differential.
Genevisibleⁱ	Q14683. HS.

Family and domain databases

Gene3Dⁱ	3.40.50.300. 4 hits.
InterProⁱ	IPR027417. P-loop_NTPase. IPR003395. RecF/RecN/SMC_N. IPR024704. SMC. IPR029683. SMC1A_metazoan. IPR010935. SMC_hinge. [Graphical view]
PANTHERⁱ	PTHR18937:SF170. PTHR18937:SF170. 3 hits.
Pfamⁱ	PF06470. SMC_hinge. 1 hit. PF02463. SMC_N. 1 hit. [Graphical view]
PIRSFⁱ	PIRSF005719. SMC. 1 hit.
SMARTⁱ	SM00968. SMC_hinge. 1 hit. [Graphical view]
SUPFAMⁱ	SSF52540. SSF52540. 2 hits. SSF75553. SSF75553. 1 hit.
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ

SMC1A_HUMAN

Accessionⁱ

Primary (citable) accession number: Q14683
Secondary accession number(s): O14995, Q16351, Q2M228

Entry historyⁱ

Integrated into UniProtKB/Swiss-Prot:	March 25, 2003
Last sequence update:	October 1, 2002
Last modified:	September 7, 2016
This is version 175 of the entry and version 2 of the sequence. [Complete history]

Entry statusⁱ

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Miscellaneous

Mutated Cornelia de Lange cell lines display genomic instability and sensitivity to ionizing radiation and interstrand cross-linking agents.

Keywords - Technical termⁱ

Complete proteome, Direct protein sequencing, Reference proteome

Documents

Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
SIMILARITY comments
Index of protein domains and families

Similar proteinsⁱ

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:

100%	UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%	UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%	UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

UniProtKB

UniParc

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UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q14683 (SMC1A_HUMAN)

UniProt

Q14683 - SMC1A_HUMAN

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Structural maintenance of chromosomes protein 1A

Select a section on the left to see content.

<p>Provides any useful information about the protein, mostly biological knowledge.</p><p><a href='../manual/function_section' target='_top'>More...</a></p>Functioni

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

<p>Provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.</p><p><a href='../manual/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>Provides information on the location and the topology of the mature protein in the cell.</p><p><a href='../manual/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Cellular componenti

<p>Provides information on the disease(s) and phenotype(s) associated with a protein.</p><p><a href='../manual/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Organism-specific databases

Polymorphism and mutation databases

<p>Describes post-translational modifications (PTMs) and/or processing events.</p><p><a href='../manual/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Proteomic databases

PTM databases

<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.</p><p><a href='../manual/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>Provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.</p><p><a href='../manual/interaction_section' target='_top'>More...</a></p>Interactioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Protein-protein interaction databases

<p>Provides information on the tertiary and secondary structure of a protein.</p><p><a href='../manual/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>Provides information on sequence similarities with other proteins and the domain(s) present in a protein.</p><p><a href='../manual/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Coiled coil

Compositional bias

<p>Provides information about the sequence similarity with other proteins.</p><p><a href='../manual/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

<p>Displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.</p><p><a href='../manual/sequences_section' target='_top'>More...</a></p>Sequencei

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

<p>Is used to point to information related to entries and found in data collections other than UniProtKB.</p><p><a href='../manual/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>Provides general information on the entry.</p><p><a href='../manual/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>Contains any relevant information that doesn’t fit in any other defined sections</p><p><a href='../manual/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Miscellaneous

Documents

Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

GO - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequenceⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ