Reviewed,
UniProtKB/Swiss-Prot Q96SB8 (SMC6_HUMAN)
Last modified
June 16, 2009.
Version 52.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Structural maintenance of chromosomes protein 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. |
| Sequence processing | The displayed sequence is not processed. |
| 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.8 |
| 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 | |
| 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 | Phosphorylated. Ref.1 Sumoylated by NSMCE2/MMS21. Ref.7 |
| Sequence similarities | Belongs to the SMC family. SMC6 subfamily. |
| Sequence caution | The sequence AAH32675.1 differs from that shown. Reason: Miscellaneous discrepancy. 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 | Chromosomal protein Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil |
| Ligand | ATP-binding Nucleotide-binding |
| PTM | Phosphoprotein Ubl conjugation |
| 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-KW 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) | ||||||
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.10 | VAR_035875 | |||||
| Natural variant | 464 | 1 | R → G: dbSNP rs35195207. Ref.1 Ref.5 | VAR_052441 | |||||
| Natural variant | 691 | 1 | A → T: dbSNP rs1065381. Ref.1 Ref.5 Ref.6 | VAR_029826 | |||||
| Natural variant | 928 | 1 | K → Q: dbSNP rs35257753. | VAR_052442 | |||||
| Natural variant | 1046 | 1 | I → M: dbSNP rs10221907. | VAR_029827 | |||||
Experimental info | |||||||||
| Sequence conflict | 483 | 1 | N → Y in BAB15236. Ref.6 | ||||||
| Sequence conflict | 868 | 1 | D → N in BAB15236. Ref.6 | ||||||
| Sequence conflict | 1082 | 1 | V → A in BAB15236. Ref.6 | ||||||
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] | "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., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder 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. |
| [4] | "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]. |
| [5] | "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. |
| [6] | "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] OF 467-1091, VARIANT THR-691. |
| [7] | "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. |
| [8] | "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. |
| [9] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [10] | "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 | |
|---|---|
| AJ310551 mRNA. Translation: CAC39248.1. AL136544 mRNA. Translation: CAB66479.1. AL832979 mRNA. Translation: CAH56327.1. AC097377 Genomic DNA. Translation: AAX88851.1. BC032675 mRNA. Translation: AAH32675.1. Sequence problems. BC039828 mRNA. Translation: AAH39828.1. AK025769 mRNA. Translation: BAB15236.1. Frameshift. | |
| IPI | IPI00154528. IPI00816217. |
| RefSeq | NP_001135758.1. NP_078900.1. |
| UniGene | Hs.526728 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1US8 based on UniProtKB P58301. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q96SB8. 2 interactions. |
PTM databases | |
| PhosphoSite | Q96SB8. |
Proteomic databases | |
| PRIDE | Q96SB8. |
Genome annotation databases | |
| Ensembl | ENSG00000163029. Homo sapiens. [Contig view] |
| GeneID | 79677. |
| KEGG | hsa:79677. |
Organism-specific databases | |
| GeneCards | GC02M017708. |
| HGNC | HGNC:20466. SMC6. |
| MIM | 609387. gene. |
| PharmGKB | PA33898. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q96SB8. |
| OMA | Q96SB8. INQGEER. |
Gene expression databases | |
| ArrayExpress | Q96SB8. |
| Bgee | Q96SB8. |
| CleanEx | HS_SMC6. |
Family and domain databases | |
| InterPro | IPR003395. RecF/RecN/SMC_N. [Graphical view] |
| Pfam | PF02463. SMC_N. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 68922. |
| SOURCE | Search... |
Entry information
| Entry name | SMC6_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96SB8 Secondary accession number(s): Q05BV4, Q9H0X3, Q9H6M0 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
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


