Q8NDV3 (SMC1B_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 104.
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 1B Short name=SMC protein 1B Short name=SMC-1-beta Short name=SMC-1B | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1235 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Meiosis-specific component of cohesin complex. Required for the maintenance of meiotic cohesion, but not, or only to a minor extent, for its establishment. Contributes to axial element (AE) formation and the organization of chromatin loops along the AE. Plays a key role in synapsis, recombination and chromosome movements. 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 meiosis-specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from chromatin during prophase I By similarity. |
| Subunit structure | Forms a heterodimer with SMC3. Component of a meiosis-specific cohesin complex, probably composed of the SMC1B and SMC3 heterodimer attached via their hinge domain, RAD21 (or its meiosis-specific related protein REC8), which link them, and STAG3, which interacts with RAD21 or REC8 By similarity. |
| Subcellular location | Nucleus. Chromosome By similarity. Chromosome › centromere By similarity. Note: Associates with chromatin. In prophase I stage of meiosis, localizes along the AE of synaptonemal complexes. In late-pachytene-diplotene, the bulk of protein dissociates from the chromosome arms probably because of phosphorylation by PLK, except at centromeres, where cohesin complexes remain. Remains chromatin associated at the centromeres up to metaphase II. At anaphase II, dissociates from centromeres, allowing chromosomes segregation By similarity. |
| Domain | 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 or REC8 protein, forming a ring structure By similarity. |
| Sequence similarities | Belongs to the SMC family. SMC1 subfamily. |
| Sequence caution | The sequence BAC86266.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8NDV3-1) 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: Q8NDV3-2) The sequence of this isoform differs from the canonical sequence as follows: 808-814: YFYKKML → LEFEKQK 1092-1165: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q8NDV3-3) The sequence of this isoform differs from the canonical sequence as follows: 808-814: YFYKKML → LEFEKQK | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1235 | 1235 | Structural maintenance of chromosomes protein 1B | PRO_0000118993 | |||||
Regions | |||||||||
| Nucleotide binding | 32 – 39 | 8 | ATP Potential | ||||||
| Region | 491 – 665 | 175 | Flexible hinge | ||||||
| Coiled coil | 156 – 490 | 335 | Potential | ||||||
| Coiled coil | 666 – 934 | 269 | Potential | ||||||
| Coiled coil | 970 – 994 | 25 | Potential | ||||||
| Coiled coil | 1022 – 1049 | 28 | Potential | ||||||
| Compositional bias | 1124 – 1159 | 36 | Ala/Asp-rich (DA-box) | ||||||
Natural variations | |||||||||
| Alternative sequence | 808 – 814 | 7 | YFYKKML → LEFEKQK in isoform 2 and isoform 3. | VSP_035027 | |||||
| Alternative sequence | 1092 – 1165 | 74 | Missing in isoform 2. | VSP_035028 | |||||
| Natural variant | 473 | 1 | F → V. Ref.3 Corresponds to variant rs136603 [ dbSNP | Ensembl ]. | VAR_045913 | |||||
| Natural variant | 758 | 1 | R → Q. Corresponds to variant rs9614653 [ dbSNP | Ensembl ]. | VAR_057324 | |||||
| Natural variant | 1008 | 1 | S → A. Corresponds to variant rs16993928 [ dbSNP | Ensembl ]. | VAR_057325 | |||||
| Natural variant | 1050 | 1 | L → M. Ref.3 Ref.4 Corresponds to variant rs5764698 [ dbSNP | Ensembl ]. | VAR_045914 | |||||
Experimental info | |||||||||
| Sequence conflict | 99 | 1 | R → L in CAD43404. Ref.1 | ||||||
| Sequence conflict | 731 | 1 | Y → D in BAC86266. Ref.4 | ||||||
| Sequence conflict | 752 | 1 | S → G in BAC86266. Ref.4 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The evolution of SMC proteins: phylogenetic analysis and structural implications." Cobbe N., Heck M.M.S. Mol. Biol. Evol. 21:332-347(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | "The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. Wright H.Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS VAL-473 AND MET-1050. |
| [4] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 731-1235 (ISOFORM 3), VARIANT MET-1050. Tissue: Testis. |
| [5] | "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] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AJ504806 mRNA. Translation: CAD43404.2. AL008718, AL021391 Genomic DNA. Translation: CAQ08671.1. AL008718, AL021391 Genomic DNA. Translation: CAQ08672.1. BC126208 mRNA. Translation: AAI26209.1. AK125736 mRNA. Translation: BAC86266.1. Different initiation. |
| IPI | IPI00479260. IPI00807400. IPI00893258. |
| RefSeq | NP_683515.3. NM_148674.3. |
| UniGene | Hs.334176. |
3D structure databases | |
| ProteinModelPortal | Q8NDV3. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000350036. |
PTM databases | |
| PhosphoSite | Q8NDV3. |
Polymorphism databases | |
| DMDM | 57015410. |
Proteomic databases | |
| PaxDb | Q8NDV3. |
| PRIDE | Q8NDV3. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000357450; ENSP00000350036; ENSG00000077935. ENST00000404354; ENSP00000385902; ENSG00000077935. |
| GeneID | 27127. |
| KEGG | hsa:27127. |
| UCSC | uc003bgc.3. human. uc003bgd.3. human. |
Organism-specific databases | |
| CTD | 27127. |
| GeneCards | GC22M045739. |
| H-InvDB | HIX0027884. |
| HGNC | HGNC:11112. SMC1B. |
| HPA | HPA001500. |
| MIM | 608685. gene. |
| neXtProt | NX_Q8NDV3. |
| PharmGKB | PA35962. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG1196. |
| HOVERGEN | HBG039593. |
| KO | K06636. |
| OMA | QLYHNEK. |
Enzyme and pathway databases | |
| Reactome | REACT_111183. Meiosis. REACT_115566. Cell Cycle. |
Gene expression databases | |
| ArrayExpress | Q8NDV3. |
| Bgee | Q8NDV3. |
| CleanEx | HS_SMC1B. |
| Genevestigator | Q8NDV3. |
| GermOnline | ENSG00000077935. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR003395. RecF/RecN/SMC. IPR024704. SMC. IPR010935. SMC_hinge. [Graphical view] |
| Pfam | PF06470. SMC_hinge. 1 hit. PF02463. SMC_N. 1 hit. [Graphical view] |
| PIRSF | PIRSF005719. SMC. 1 hit. |
| SMART | SM00968. SMC_hinge. 1 hit. [Graphical view] |
| SUPFAM | SSF75553. SMC_hinge. 1 hit. |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 27127. |
| NextBio | 49836. |
| SOURCE | Search... |
Entry information
| Entry name | SMC1B_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NDV3 Secondary accession number(s): A0AV46 Q9Y3G5 | ||||||||
| 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 22 Human chromosome 22: 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
