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SEM1
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
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1IYJ, 1MIU, 1MJE, 3T5X
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6|6 A1 Start 6,557,294 bp End 6,578,663 bp
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
Wikidata
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26S proteasome complex subunit DSS1 is a protein that in humans is encoded by the SHFM1 gene.

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.

Interactions

SHFM1 has been shown to interact with BRCA2.

Further reading

• Sharland M, Patton MA, Hill L (June 1991). "Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2". American Journal of Medical Genetics. 39 (4): 413–4. doi:10.1002/ajmg.1320390410. PMID 1877619.
• Sanger Centre, The; Washington University Genome Sequencing Cente, The (November 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
• Jäntti J, Lahdenranta J, Olkkonen VM, Söderlund H, Keränen S (February 1999). "SEM1, a homologue of the split hand/split foot malformation candidate gene Dss1, regulates exocytosis and pseudohyphal differentiation in yeast". Proceedings of the National Academy of Sciences of the United States of America. 96 (3): 909–14. Bibcode:1999PNAS...96..909J. doi:10.1073/pnas.96.3.909. PMC 15324. PMID 9927667.
• Marston NJ, Richards WJ, Hughes D, Bertwistle D, Marshall CJ, Ashworth A (July 1999). "Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals". Molecular and Cellular Biology. 19 (7): 4633–42. doi:10.1128/mcb.19.7.4633. PMC 84261. PMID 10373512.
• Yang H, Jeffrey PD, Miller J, Kinnucan E, Sun Y, Thoma NH, Zheng N, Chen PL, Lee WH, Pavletich NP (September 2002). "BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure". Science. 297 (5588): 1837–48. Bibcode:2002Sci...297.1837Y. doi:10.1126/science.297.5588.1837. PMID 12228710.
• Sone T, Saeki Y, Toh-e A, Yokosawa H (July 2004). "Sem1p is a novel subunit of the 26 S proteasome from Saccharomyces cerevisiae". The Journal of Biological Chemistry. 279 (27): 28807–16. doi:10.1074/jbc.M403165200. PMID 15117943.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• Baillat D, Hakimi MA, Näär AM, Shilatifard A, Cooch N, Shiekhattar R (October 2005). "Integrator, a multiprotein mediator of small nuclear RNA processing, associates with the C-terminal repeat of RNA polymerase II". Cell. 123 (2): 265–76. doi:10.1016/j.cell.2005.08.019. PMID 16239144. S2CID 18069461.
• Kharrat N, Ayadi I, Rebaï A (December 2006). "Sample size computation for association studies using case-parents design". Journal of Genetics. 85 (3): 187–91. doi:10.1007/BF02935329. PMID 17406092. S2CID 666139.