Q96SB8 (SMC6_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 74.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Structural maintenance of chromosomes protein 6 Short name=SMC protein 6 Short name=SMC-6 Short name=hSMC6 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1091 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Core component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. Ref.9 |
| Subunit structure | Forms a heterodimer with SMC5. Component of the SMC5-SMC6 complex which consists of SMC5, SMC6, NSMCE2/MMS21 and probably NSMCE1. |
| Subcellular location | Nucleus. Chromosome. Note: Associates with chromatin. Ref.1 |
| Tissue specificity | Widely expressed. Overexpressed in testis. Ref.1 |
| Domain | The flexible hinge domain, which separates the large intramolecular coiled coil regions, allows the heterotypic interaction with the corresponding domain of SMC5, forming a V-shaped heterodimer By similarity. |
| Post-translational modification | Sumoylated by NSMCE2/MMS21. Ref.8 |
| Sequence similarities | Belongs to the SMC family. SMC6 subfamily. |
| Sequence caution | The sequence AAH32675.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence BAB15236.1 differs from that shown. Reason: Frameshift at position 718. |
Ontologies
| Keywords | |
|---|---|
| Biological process | DNA damage DNA recombination DNA repair |
| Cellular component | Chromosome Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil |
| Ligand | ATP-binding Nucleotide-binding |
| PTM | Phosphoprotein Ubl conjugation |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | DNA recombination Inferred from electronic annotation. Source: UniProtKB-KW DNA repairInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | chromosome Inferred from electronic annotation. Source: UniProtKB-SubCell nucleusInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | ATP binding Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q96SB8-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q96SB8-2) The sequence of this isoform differs from the canonical sequence as follows: 80-80: S → SWSAVVRSRLNATSASQVQAILLFQPC | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1091 | 1091 | Structural maintenance of chromosomes protein 6 | PRO_0000270956 | |||||
Regions | |||||||||
| Nucleotide binding | 76 – 83 | 8 | ATP Potential | ||||||
| Region | 452 – 659 | 208 | Flexible hinge | ||||||
| Coiled coil | 226 – 451 | 226 | Potential | ||||||
| Coiled coil | 660 – 914 | 255 | Potential | ||||||
| Compositional bias | 987 – 1022 | 36 | Ala/Asp-rich (DA-box) | ||||||
Amino acid modifications | |||||||||
| Modified residue | 666 | 1 | Phosphoserine Ref.10 | ||||||
| Modified residue | 669 | 1 | Phosphoserine Ref.10 | ||||||
Natural variations | |||||||||
| Alternative sequence | 80 | 1 | S → SWSAVVRSRLNATSASQVQA ILLFQPC in isoform 2. | VSP_022253 | |||||
| Natural variant | 292 | 1 | A → V in a breast cancer sample; somatic mutation. Ref.12 | VAR_035875 | |||||
| Natural variant | 464 | 1 | R → G. Ref.1 Ref.7 Corresponds to variant rs35195207 [ dbSNP | Ensembl ]. | VAR_052441 | |||||
| Natural variant | 691 | 1 | A → T. Ref.1 Ref.3 Ref.7 Corresponds to variant rs1065381 [ dbSNP | Ensembl ]. | VAR_029826 | |||||
| Natural variant | 928 | 1 | K → Q. Corresponds to variant rs35257753 [ dbSNP | Ensembl ]. | VAR_052442 | |||||
| Natural variant | 1046 | 1 | I → M. Corresponds to variant rs10221907 [ dbSNP | Ensembl ]. | VAR_029827 | |||||
Experimental info | |||||||||
| Sequence conflict | 483 | 1 | N → Y in BAB15236. Ref.3 | ||||||
| Sequence conflict | 868 | 1 | D → N in BAB15236. Ref.3 | ||||||
| Sequence conflict | 1082 | 1 | V → A in BAB15236. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Characterization of a novel human SMC heterodimer homologous to the Schizosaccharomyces pombe Rad18/Spr18 complex." Taylor E.M., Moghraby J.S., Lees J.H., Smit B., Moens P.B., Lehmann A.R. Mol. Biol. Cell 12:1583-1594(2001) [PubMed: 11408570] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH SMC5, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, PHOSPHORYLATION, VARIANTS GLY-464 AND THR-691. |
| [2] | "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. Poustka A.Genome Res. 11:422-435(2001) [PubMed: 11230166] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Amygdala. |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 467-1091, VARIANT THR-691. Tissue: Testis. |
| [4] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Stomach. |
| [5] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-717 (ISOFORM 2), VARIANTS GLY-464 AND THR-691. Tissue: Ovary. |
| [8] | "Human MMS21/NSE2 is a SUMO ligase required for DNA repair." Potts P.R., Yu H. Mol. Cell. Biol. 25:7021-7032(2005) [PubMed: 16055714] [Abstract] Cited for: INTERACTION WITH NSMCE2, SUMOYLATION. |
| [9] | "Human SMC5/6 complex promotes sister chromatid homologous recombination by recruiting the SMC1/3 cohesin complex to double-strand breaks." Potts P.R., Porteus M.H., Yu H. EMBO J. 25:3377-3388(2006) [PubMed: 16810316] [Abstract] Cited for: FUNCTION. |
| [10] | "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: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-666 AND SER-669, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [11] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [12] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-292. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AJ310551 mRNA. Translation: CAC39248.1. AL136544 mRNA. Translation: CAB66479.1. AK025769 mRNA. Translation: BAB15236.1. Frameshift. AK292421 mRNA. Translation: BAF85110.1. AL832979 mRNA. Translation: CAH56327.1. AC097377 Genomic DNA. Translation: AAX88851.1. CH471053 Genomic DNA. Translation: EAX00866.1. CH471053 Genomic DNA. Translation: EAX00867.1. CH471053 Genomic DNA. Translation: EAX00868.1. BC032675 mRNA. Translation: AAH32675.1. Sequence problems. BC039828 mRNA. Translation: AAH39828.1. |
| IPI | IPI00154528. IPI00816217. |
| RefSeq | NP_001135758.1. NM_001142286.1. NP_078900.1. NM_024624.5. |
| UniGene | Hs.526728. |
3D structure databases | |
| HSSP | HSSP built from PDB template 1US8 based on UniProtKB P58301. |
| ProteinModelPortal | Q96SB8. |
| SMR | Q96SB8. Positions 46-213, 982-1052. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-34562N. |
| IntAct | Q96SB8. 4 interactions. |
| STRING | Q96SB8. |
PTM databases | |
| PhosphoSite | Q96SB8. |
Polymorphism databases | |
| DMDM | 122070455. |
Proteomic databases | |
| PRIDE | Q96SB8. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000351948; ENSP00000323439; ENSG00000163029. ENST00000402989; ENSP00000384539; ENSG00000163029. ENST00000448223; ENSP00000404092; ENSG00000163029. |
| GeneID | 79677. |
| KEGG | hsa:79677. |
| UCSC | uc002rcn.1. human. uc002rcp.1. human. |
Organism-specific databases | |
| CTD | 79677. |
| GeneCards | GC02M017845. |
| H-InvDB | HIX0001845. |
| HGNC | HGNC:20466. SMC6. |
| MIM | 609387. gene. |
| neXtProt | NX_Q96SB8. |
| PharmGKB | PA134892702. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG06114. |
| GeneTree | ENSGT00550000074816. |
| HOVERGEN | HBG093964. |
| InParanoid | Q96SB8. |
| OMA | RCQLHYK. |
| OrthoDB | EOG44QT04. |
| PhylomeDB | Q96SB8. |
Gene expression databases | |
| ArrayExpress | Q96SB8. |
| Bgee | Q96SB8. |
| CleanEx | HS_SMC6. |
| Genevestigator | Q96SB8. |
Family and domain databases | |
| InterPro | IPR003395. RecF/RecN/SMC. [Graphical view] |
| Pfam | PF02463. SMC_N. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 68922. |
| SOURCE | Search... |
Entry information
| Entry name | SMC6_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96SB8 Secondary accession number(s): A8K8Q6 Q9H6M0 | ||||||||
| Entry history |
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| Entry status | 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. | ||||||||
Relevant documents
| Human chromosome 2 Human chromosome 2: 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 |

Clusters with