SEM1

SEM1
Identifiers
Aliases	SEM1, DSS1, ECD, SHFD1, SHSF1, Shfdg1, SHFM1, split hand/foot malformation (ectrodactyly) type 1
External IDs	OMIM: 601285; MGI: 109238; GeneCards: SEM1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1IYJ, 1MIU, 1MJE, 3T5X
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	6,578,663 bp
RNA expression pattern
	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;
	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
Databases	NCBI: entry; OMA: entry
	7979
	20422
	ENSG00000127922
	ENSMUSG00000042541
	P60896; Q6ZVN7
	P60897
	NM_006304
	NM_009169
NP_006295; NP_001188379; NP_001188380; NP_001336627; NP_001336629;
	NP_001336630; NP_001336631; NP_006295
	NP_033195
	Wikidata
View/Edit Human	View/Edit Mouse

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

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.

References

1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042541 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Roberts SH, Hughes HE, Davies SJ, Meredith AL (July 1991). "Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3". Journal of Medical Genetics. 28 (7): 479–481. doi:10.1136/jmg.28.7.479. PMC 1016960. PMID 1895319.
↑ Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, et al. (May 1996). "Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development". Human Molecular Genetics. 5 (5): 571–579. doi:10.1093/hmg/5.5.571. PMID 8733122.
1 2 "Entrez Gene: SHFM1 split hand/foot malformation (ectrodactyly) type 1".
↑ "UniProt". UniProt. Retrieved 2026-09-11.
↑ 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): 4633–4642. doi:10.1128/mcb.19.7.4633. PMC 84261. PMID 10373512.
↑ Yang H, Jeffrey PD, Miller J, Kinnucan E, Sun Y, Thoma NH, et al. (September 2002). "BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure". Science. 297 (5588). New York, N.Y.: 1837–1848. Bibcode:2002Sci...297.1837Y. doi:10.1126/science.297.5588.1837. PMID 12228710.

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): 413–414. doi:10.1002/ajmg.1320390410. PMID 1877619.
Sanger Centre T, Washington University Genome Sequencing Cente T (November 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–1108. 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): 909–914. Bibcode:1999PNAS...96..909J. doi:10.1073/pnas.96.3.909. PMC 15324. PMID 9927667.
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): 28807–28816. doi:10.1074/jbc.M403165200. PMID 15117943.
Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–1178. 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): 265–276. 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): 187–191. doi:10.1007/BF02935329. PMID 17406092. S2CID 666139.

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by adding missing information.

[refGRCm38Ensembl-1] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042541 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Roberts_1991-4] Roberts SH, Hughes HE, Davies SJ, Meredith AL (July 1991). "Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3". Journal of Medical Genetics. 28 (7): 479–481. doi:10.1136/jmg.28.7.479. PMC 1016960. PMID 1895319.

[Crackower_1996-5] Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, et al. (May 1996). "Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development". Human Molecular Genetics. 5 (5): 571–579. doi:10.1093/hmg/5.5.571. PMID 8733122.

[entrez-6] 1 2 "Entrez Gene: SHFM1 split hand/foot malformation (ectrodactyly) type 1".

[7] "UniProt". UniProt. Retrieved 2026-09-11.

[Marston_1999-8] 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): 4633–4642. doi:10.1128/mcb.19.7.4633. PMC 84261. PMID 10373512.

[Yang_2002-9] Yang H, Jeffrey PD, Miller J, Kinnucan E, Sun Y, Thoma NH, et al. (September 2002). "BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure". Science. 297 (5588). New York, N.Y.: 1837–1848. Bibcode:2002Sci...297.1837Y. doi:10.1126/science.297.5588.1837. PMID 12228710.

SEM1

Function

Interactions

References

Further reading