O43196 (MSH5_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 108.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: MutS protein homolog 5 Short name=hMSH5 | ||
| Gene names |
| ||
| 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 | 834 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Involved in meiotic recombination. Facilitate crossovers between homologs during meiosis By similarity. |
| Subunit structure | Heterooligomer of MSH4 and MSH5. Interacts with HJURP. Ref.11 |
| Tissue specificity | Ubiquitous, but highly expressed in testis, and thymus. |
| Sequence similarities | Belongs to the DNA mismatch repair MutS family. |
Ontologies
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O43196-1) 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: O43196-2) The sequence of this isoform differs from the canonical sequence as follows: 654-654: Q → QQ | ||||||
| Isoform 3 (identifier: O43196-3) The sequence of this isoform differs from the canonical sequence as follows: 179-179: T → TPPGDLRFTPIPLLIPSQ | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: O43196-4) The sequence of this isoform differs from the canonical sequence as follows: 179-179: T → TPPGDLRFTPIPLLIPSQ 654-654: Q → QQ 745-774: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 834 | 834 | MutS protein homolog 5 | PRO_0000115202 | |||||
Regions | |||||||||
| Nucleotide binding | 592 – 599 | 8 | ATP Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 179 | 1 | T → TPPGDLRFTPIPLLIPSQ in isoform 3 and isoform 4. | VSP_017113 | |||||
| Alternative sequence | 654 | 1 | Q → QQ in isoform 2 and isoform 4. | VSP_017114 | |||||
| Alternative sequence | 745 – 774 | 30 | Missing in isoform 4. | VSP_017115 | |||||
| Natural variant | 29 | 1 | P → S. Ref.5 Corresponds to variant rs2075789 [ dbSNP | Ensembl ]. | VAR_025082 | |||||
| Natural variant | 85 | 1 | L → F. Ref.5 Corresponds to variant rs28381349 [ dbSNP | Ensembl ]. | VAR_025083 | |||||
| Natural variant | 202 | 1 | Y → C. Ref.5 Corresponds to variant rs28381358 [ dbSNP | Ensembl ]. | VAR_025084 | |||||
| Natural variant | 206 | 1 | V → F. Ref.5 Corresponds to variant rs28381359 [ dbSNP | Ensembl ]. | VAR_025085 | |||||
| Natural variant | 351 | 1 | R → G. Ref.5 Corresponds to variant rs28399976 [ dbSNP | Ensembl ]. | VAR_025086 | |||||
| Natural variant | 377 | 1 | L → F. Ref.5 Corresponds to variant rs28399977 [ dbSNP | Ensembl ]. | VAR_025087 | |||||
| Natural variant | 786 | 1 | P → S. Ref.5 Corresponds to variant rs1802127 [ dbSNP | Ensembl ]. | VAR_025088 | |||||
Experimental info | |||||||||
| Sequence conflict | 764 | 1 | P → L in AAC62533. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning, structural characterization, and chromosomal localization of the human orthologue of Saccharomyces cerevisiae MSH5 gene." Her C., Doggett N.A. Genomics 52:50-61(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1). |
| [2] | "hMSH5: a human MutS homologue that forms a novel heterodimer with hMSH4 and is expressed during spermatogenesis." Bocker T., Barusevicius A., Snowden T., Rasio D., Guerrette S., Robbins D., Schmidt C., Burczak J., Croce C.M., Copeland T., Kovatich A.J., Fishel R. Cancer Res. 59:816-822(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [3] | "Cloning and characterization of the human and Caenorhabditis elegans homologs of the Saccharomyces cerevisiae MSH5 gene." Winand N.J., Panzer J.A., Kolodner R.D. Genomics 53:69-80(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1). |
| [4] | "Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). |
| [5] | NIEHS SNPs program Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-29; PHE-85; CYS-202; PHE-206; GLY-351; PHE-377 AND SER-786. |
| [6] | "Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region." Hirakawa M., Yamaguchi H., Imai K., Shimada J., Shiina S., Tamiya G., Oka A., Inoko H. Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [8] | "Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse." Xie T., Rowen L., Aguado B., Ahearn M.E., Madan A., Qin S., Campbell R.D., Hood L. Genome Res. 13:2621-2636(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [9] | "The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. Beck S.Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [10] | "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] (ISOFORMS 2 AND 4). Tissue: Kidney and Skin. |
| [11] | "Activation of Holliday junction recognizing protein involved in the chromosomal stability and immortality of cancer cells." Kato T., Sato N., Hayama S., Yamabuki T., Ito T., Miyamoto M., Kondo S., Nakamura Y., Daigo Y. Cancer Res. 67:8544-8553(2007) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH HJURP. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF048986 mRNA. Translation: AAC62533.1. AF048991 AF048990 Genomic DNA. Translation: AAC62534.1.AF034759 mRNA. Translation: AAB87632.1. AF070071 mRNA. Translation: AAC70066.1. AF070079 AF070078 Genomic DNA. Translation: AAC70067.1.BT007200 mRNA. Translation: AAP35864.1. AY943816 Genomic DNA. Translation: AAX20111.1. BA000025 Genomic DNA. Translation: BAB63375.1. AF129756 Genomic DNA. Translation: AAD18072.1. AF134726 Genomic DNA. Translation: AAD21822.1. AL662834 Genomic DNA. Translation: CAI17723.1. AL662834 Genomic DNA. Translation: CAI17724.1. AL662899 Genomic DNA. Translation: CAI18423.1. AL662899 Genomic DNA. Translation: CAI18424.1. CR936239, CR925765 Genomic DNA. Translation: CAQ08900.1. CR936239, CR925765 Genomic DNA. Translation: CAQ08901.1. CR759787 Genomic DNA. Translation: CAQ10116.1. CR759787 Genomic DNA. Translation: CAQ10117.1. CR925765, CR936239 Genomic DNA. Translation: CAQ10619.1. CR925765, CR936239 Genomic DNA. Translation: CAQ10620.1. CH471081 Genomic DNA. Translation: EAX03512.1. CH471081 Genomic DNA. Translation: EAX03514.1. BC001358 mRNA. Translation: AAH01358.1. BC002498 mRNA. Translation: AAH02498.1. BC041031 mRNA. Translation: AAH41031.1. |
| IPI | IPI00172593. IPI00219362. IPI00297780. IPI00647584. |
| RefSeq | NP_002432.1. NM_002441.4. NP_079535.4. NM_025259.5. NP_751897.1. NM_172165.3. NP_751898.1. NM_172166.3. |
| UniGene | Hs.647011. |
3D structure databases | |
| ProteinModelPortal | O43196. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O43196. 2 interactions. |
| STRING | 9606.ENSP00000364894. |
PTM databases | |
| PhosphoSite | O43196. |
Proteomic databases | |
| PaxDb | O43196. |
| PRIDE | O43196. |
Protocols and materials databases | |
| DNASU | 4439. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000375703; ENSP00000364855; ENSG00000204410. ENST00000375740; ENSP00000364892; ENSG00000204410. ENST00000375742; ENSP00000364894; ENSG00000204410. ENST00000375750; ENSP00000364903; ENSG00000204410. ENST00000375755; ENSP00000364908; ENSG00000204410. ENST00000416549; ENSP00000399721; ENSG00000235222. ENST00000419269; ENSP00000394649; ENSG00000235222. ENST00000427735; ENSP00000388037; ENSG00000230293. ENST00000435700; ENSP00000407047; ENSG00000230293. ENST00000436192; ENSP00000406868; ENSG00000227314. ENST00000441395; ENSP00000402659; ENSG00000227314. ENST00000441401; ENSP00000406269; ENSG00000227314. ENST00000448617; ENSP00000387609; ENSG00000227314. ENST00000456839; ENSP00000394017; ENSG00000235222. ENST00000457742; ENSP00000409181; ENSG00000230293. ENST00000497157; ENSP00000464260; ENSG00000230293. ENST00000534153; ENSP00000431693; ENSG00000204410. ENST00000578225; ENSP00000463730; ENSG00000227314. |
| GeneID | 4439. |
| KEGG | hsa:4439. |
| UCSC | uc003nwu.2. human. uc003nwv.2. human. uc003nwx.2. human. |
Organism-specific databases | |
| CTD | 4439. |
| GeneCards | GC06P031707. |
| H-InvDB | HIX0165917. HIX0166738. HIX0167237. HIX0167372. |
| HGNC | HGNC:7328. MSH5. |
| MIM | 603382. gene. |
| neXtProt | NX_O43196. |
| PharmGKB | PA31136. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0249. |
| HOVERGEN | HBG001449. |
| KO | K08741. |
| OMA | NDLVFFY. |
| OrthoDB | EOG4WSW8Z. |
| PhylomeDB | O43196. |
Enzyme and pathway databases | |
| Reactome | REACT_111183. Meiosis. |
Gene expression databases | |
| ArrayExpress | O43196. |
| Bgee | O43196. |
| CleanEx | HS_MSH5. |
| Genevestigator | O43196. |
| GermOnline | ENSG00000204410. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000432. DNA_mismatch_repair_MutS_C. IPR007861. DNA_mismatch_repair_MutS_clamp. IPR007696. DNA_mismatch_repair_MutS_core. [Graphical view] |
| Pfam | PF05192. MutS_III. 1 hit. PF05190. MutS_IV. 1 hit. PF00488. MutS_V. 1 hit. [Graphical view] |
| SMART | SM00534. MUTSac. 1 hit. SM00533. MUTSd. 1 hit. [Graphical view] |
| SUPFAM | SSF48334. DNA_repair_MutS_domIII. 1 hit. |
| PROSITE | PS00486. DNA_MISMATCH_REPAIR_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | MSH5. human. |
| GenomeRNAi | 4439. |
| NextBio | 17301. |
| SOURCE | Search... |
Entry information
| Entry name | MSH5_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O43196 Secondary accession number(s): B0V033 Q9BQC7 | ||||||||
| Entry history |
| ||||||||
| 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 6 Human chromosome 6: 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
