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SEM1

Protein-coding gene in humans From Wikipedia, the free encyclopedia

26S proteasome complex subunit SEM1 is a protein that in humans is encoded by the SEM1 gene (previously SHFM1).[4][5][6] In yeast biology and general proteasome nomenclature, it is referred to as Rpn15 (Regulatory Particle Non-ATPase subunit 15).[7]

AliasesSEM1, DSS1, ECD, SHFD1, SHSF1, Shfdg1, SHFM1, split hand/foot malformation (ectrodactyly) type 1
External IDsOMIM: 601285; MGI: 109238; GeneCards: SEM1
PDBOrtholog search: PDBe RCSB
Chr.Chromosome 6 (mouse)[1]
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SEM1
Identifiers
AliasesSEM1, DSS1, ECD, SHFD1, SHSF1, Shfdg1, SHFM1, split hand/foot malformation (ectrodactyly) type 1
External IDsOMIM: 601285; MGI: 109238; GeneCards: SEM1
Available structures
PDBOrtholog search: PDBe RCSB
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006304

NM_009169

RefSeq (protein)

NP_033195

Location (UCSC)n/aChr 6: 6.56 – 6.58 Mb
PubMed search[2][3]
Wikidata
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Function

The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle.[6]

Interactions

SHFM1 has been shown to interact with BRCA2.[8][9]

References

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