VIPAS39

Spermatogenesis-defective protein 39 homolog is a protein that in humans is encoded by the VIPAS39 gene. This protein is involved in the sorting of lysosomal proteins. Mutations in this gene are associated with ARCS2 (arthrogryposis, renal dysfunction, and cholestasis-2). Alternative splicing results in multiple transcript variants. ^[5]

VIPAS39
Identifiers
Aliases	VIPAS39, C14orf133, SPE-39, SPE39, VIPAR, VPS16B, hSPE-39, VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
External IDs	OMIM: 613401; MGI: 2144805; HomoloGene: 41464; GeneCards: VIPAS39; OMA:VIPAS39 - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q24.3 Start 77,426,675 bp[1] End 77,457,952 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 D2 Start 87,285,642 bp[2] End 87,313,030 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence gonad tendon of biceps brachii gastric mucosa testicle Achilles tendon popliteal artery tibial arteries stromal cell of endometrium Descending thoracic aorta Top expressed in saccule otic vesicle otic placode granulocyte spermatocyte ventricular zone ganglionic eminence medial ganglionic eminence right kidney neural layer of retina More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding protein-containing complex binding Cellular component HOPS complex endosome cytoplasmic vesicle early endosome cytoplasm late endosome recycling endosome Golgi apparatus Biological process protein transport cell differentiation autophagosome maturation regulation of transcription, DNA-templated transcription, DNA-templated spermatogenesis endosome to lysosome transport intracellular protein transport collagen fibril organization post-translational protein modification peptidyl-lysine hydroxylation collagen metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 63894 104799 Ensembl ENSG00000151445 ENSMUSG00000021038 UniProt Q9H9C1 Q8BGQ1 RefSeq (mRNA) NM_001193314 NM_001193315 NM_001193316 NM_001193317 NM_022067 NM_001142580 NM_001142581 NM_134044 RefSeq (protein) NP_001180243 NP_001180244 NP_001180245 NP_001180246 NP_071350 NP_001136052 NP_001136053 NP_598805 Location (UCSC) Chr 14: 77.43 – 77.46 Mb Chr 12: 87.29 – 87.31 Mb PubMed search [3] [4]
Wikidata
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