SHFM1

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)
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
	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 DSS1 is a protein that in humans is encoded by the SHFM1 gene.^[4]^[5]^[6]

^ ^a ^b ^c 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): 479–81. doi:10.1136/jmg.28.7.479. PMC 1016960. PMID 1895319.
^ Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, Cobben JM, Hudgins L, Evans JP, Tsui LC (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): 571–9. doi:10.1093/hmg/5.5.571. PMID 8733122.
^ "Entrez Gene: SHFM1 split hand/foot malformation (ectrodactyly) type 1".

[refGRCm38Ensembl-1] 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.

[pmid1895319-4] 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): 479–81. doi:10.1136/jmg.28.7.479. PMC 1016960. PMID 1895319.

[pmid8733122-5] Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, Cobben JM, Hudgins L, Evans JP, Tsui LC (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): 571–9. doi:10.1093/hmg/5.5.571. PMID 8733122.

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

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