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SHFM1

Gene of the species Homo sapiens From Wikipedia, the free encyclopedia

SHFM1

26S proteasome complex subunit DSS1 is a protein that in humans is encoded by the SHFM1 gene.[4][5][6]

Quick Facts SEM1, Available structures ...
SEM1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSEM1, DSS1, ECD, SHFD1, SHSF1, Shfdg1, SHFM1, split hand/foot malformation (ectrodactyly) type 1
External IDsOMIM: 601285; MGI: 109238; HomoloGene: 38165; GeneCards: SEM1; OMA:SEM1 - orthologs
Orthologs
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.[7][8]

References

Further reading

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