RHBDF1

Inactive rhomboid protein 1 (iRhom1) also known as rhomboid 5 homolog 1 or rhomboid family member 1 (RHBDF1) is a protein that in humans is encoded by the RHBDF1 gene.^[5][6][7] The alternative name iRhom1 has been proposed, in order to clarify that it is a catalytically inactive member of the rhomboid family of intramembrane serine proteases.^[8][9]

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RHBDF1
Identifiers
Aliases	RHBDF1, C16orf8, Dist1, EGFR-RS, gene-89, gene-90, hDist1, rhomboid 5 homolog 1
External IDs	OMIM: 614403; MGI: 104328; HomoloGene: 32085; GeneCards: RHBDF1; OMA:RHBDF1 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p13.3 Start 58,059 bp[1] End 76,355 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 A4|11 18.83 cM Start 32,159,585 bp[2] End 32,172,300 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibial nerve tibial arteries ascending aorta right coronary artery left coronary artery Descending thoracic aorta canal of the cervix right lung gastric mucosa sural nerve Top expressed in interventricular septum external carotid artery internal carotid artery primary oocyte ankle lip esophagus medullary collecting duct carotid body skin of external ear More reference expression data BioGPS More reference expression data
Gene ontology Molecular function serine-type endopeptidase activity growth factor binding protein binding Cellular component integral component of membrane Golgi membrane Golgi apparatus endoplasmic reticulum membrane endoplasmic reticulum membrane Biological process protein transport regulation of proteasomal protein catabolic process protein processing regulation of epidermal growth factor receptor signaling pathway cell population proliferation cell migration negative regulation of protein secretion proteolysis regulation of protein secretion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64285 13650 Ensembl ENSG00000007384 ENSMUSG00000020282 UniProt Q96CC6 Q6PIX5 RefSeq (mRNA) NM_022450 NM_001291818 NM_010117 RefSeq (protein) NP_071895 NP_001278747 NP_034247 Location (UCSC) Chr 16: 0.06 – 0.08 Mb Chr 11: 32.16 – 32.17 Mb PubMed search [3] [4]
Wikidata
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