SHFM1

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

SEM1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1IYJ, 1MIU, 1MJE, 3T5X
Identifiers
Aliases	SEM1, DSS1, ECD, SHFD1, SHSF1, Shfdg1, SHFM1, split hand/foot malformation (ectrodactyly) type 1
External IDs	OMIM: 601285; MGI: 109238; HomoloGene: 38165; GeneCards: SEM1; OMA:SEM1 - orthologs
Gene location (Mouse) Chr. Chromosome 6 (mouse)[1] Band 6|6 A1 Start 6,557,294 bp[1] End 6,578,663 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) n/a Top expressed in mandibular prominence maxillary prominence endothelial cell of lymphatic vessel medullary collecting duct body of femur medial ganglionic eminence hair follicle primitive streak abdominal wall dermis BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component integrator complex proteasome complex proteasome regulatory particle, lid subcomplex nucleoplasm cytosol Biological process mRNA export from nucleus proteasome assembly protein deubiquitination post-translational protein modification double-strand break repair via homologous recombination MAPK cascade protein polyubiquitination stimulatory C-type lectin receptor signaling pathway antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent regulation of cellular amino acid metabolic process negative regulation of G2/M transition of mitotic cell cycle anaphase-promoting complex-dependent catabolic process SCF-dependent proteasomal ubiquitin-dependent protein catabolic process tumor necrosis factor-mediated signaling pathway NIK/NF-kappaB signaling Fc-epsilon receptor signaling pathway proteasome-mediated ubiquitin-dependent protein catabolic process regulation of mRNA stability T cell receptor signaling pathway transmembrane transport Wnt signaling pathway, planar cell polarity pathway regulation of transcription from RNA polymerase II promoter in response to hypoxia interleukin-1-mediated signaling pathway negative regulation of canonical Wnt signaling pathway positive regulation of canonical Wnt signaling pathway regulation of mitotic cell cycle phase transition regulation of hematopoietic stem cell differentiation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7979 20422 Ensembl ENSG00000127922 ENSMUSG00000042541 UniProt P60896 Q6ZVN7 P60897 RefSeq (mRNA) NM_006304 NM_009169 RefSeq (protein) NP_006295 NP_001188379 NP_001188380 NP_001336627 NP_001336629 NP_001336630 NP_001336631 NP_006295 NP_033195 Location (UCSC) n/a Chr 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]