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
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