GORAB

RAB6-interacting golgin also known as N-terminal kinase-like-binding protein 1 (NTKL-BP1) or SCY1-like 1-binding protein 1 (SCYL1-BP1) is a protein that in humans is encoded by the GORAB gene.^[5]

GORAB
Identifiers
Aliases	GORAB, GO, NTKLBP1, SCYL1BP1, golgin, RAB6 interacting
External IDs	OMIM: 607983; MGI: 2138271; HomoloGene: 45113; GeneCards: GORAB; OMA:GORAB - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q24.2 Start 170,531,819 bp[1] End 170,553,834 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 H2.1 Start 163,212,477 bp[2] End 163,231,238 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon rectum endothelial cell tibia pancreatic epithelial cell epithelium of nasopharynx testicle cartilage tissue palpebral conjunctiva gonad Top expressed in hand calvaria dermis medial ganglionic eminence genital tubercle epithelium of lens maxillary prominence Gonadal ridge otolith organ vas deferens More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component Golgi apparatus nucleolus nucleus nucleoplasm cytoplasm cytosol Biological process hair follicle morphogenesis positive regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning non-motile cilium assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 92344 98376 Ensembl ENSG00000120370 ENSMUSG00000040124 UniProt Q5T7V8 Q8BRM2 RefSeq (mRNA) NM_001146039 NM_152281 NM_001320252 NM_178883 NM_001313738 RefSeq (protein) NP_001139511 NP_001307181 NP_689494 NP_001300667 NP_849214 Location (UCSC) Chr 1: 170.53 – 170.55 Mb Chr 1: 163.21 – 163.23 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi apparatus. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis.^[5]

Clinical significance

Mutations in this gene have been associated with geroderma osteodysplastica.^[5]

See also

• Gerodermia osteodysplastica