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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) Band 1q24.2 Start 170,531,819 bp End 170,553,834 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1|1 H2.1 Start 163,212,477 bp End 163,231,238 bp
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
Wikidata
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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.

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.

Clinical significance

Mutations in this gene have been associated with geroderma osteodysplastica.

See also

• Gerodermia osteodysplastica

References

1. ^ GRCh38: Ensembl release 89: ENSG00000120370 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000040124 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ "Entrez Gene: Golgin, RAB6-interacting".

Further reading

• Yan J, Di Y, Shi H, Rao H, Huo K (October 2010). "Overexpression of SCYL1-BP1 stabilizes functional p53 by suppressing MDM2-mediated ubiquitination". FEBS Letters. 584 (20): 4319–24. doi:10.1016/j.febslet.2010.09.019. PMC 3789512. PMID 20849854.
• Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kühnisch J, Budde B, Nätebus M, Brancati F, Wilcox WR, Müller D, Kaplan PB, Rajab A, Zampino G, Fodale V, Dallapiccola B, Newman W, Metcalfe K, Clayton-Smith J, Tassabehji M, Steinmann B, Barr FA, Nürnberg P, Wieacker P, Mundlos S (December 2008). "Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin". Nature Genetics. 40 (12): 1410–2. doi:10.1038/ng.252. PMC 3122266. PMID 18997784.
• Yan J, Zhang D, Di Y, Shi H, Rao H, Huo K (August 2010). "A newly identified Pirh2 substrate SCYL1-BP1 can bind to MDM2 and accelerate MDM2 self-ubiquitination". FEBS Letters. 584 (15): 3275–8. doi:10.1016/j.febslet.2010.06.027. PMC 3798065. PMID 20598683.
• Al-Dosari M, Alkuraya FS (October 2009). "A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations". American Journal of Medical Genetics. Part A. 149A (10): 2093–8. doi:10.1002/ajmg.a.32996. PMID 19681135. S2CID 24882708.
• Zhang L, Li J, Wang C, Ma Y, Huo K (April 2005). "A new human gene hNTKL-BP1 interacts with hPirh2". Biochemical and Biophysical Research Communications. 330 (1): 293–7. doi:10.1016/j.bbrc.2005.02.156. PMID 15781263.
• Kim J, Kim YS, Ko J (February 2010). "CK beta 8/CCL23 induces cell migration via the Gi/Go protein/PLC/PKC delta/NF-kappa B and is involved in inflammatory responses". Life Sciences. 86 (9–10): 300–8. doi:10.1016/j.lfs.2009.11.012. PMID 19951712.
• Di Y, Li J, Fang J, Xu Z, He X, Zhang F, Ling J, Li X, Xu D, Li L, Li YY, Huo K (2003). "Cloning and characterization of a novel gene which encodes a protein interacting with the mitosis-associated kinase-like protein NTKL". Journal of Human Genetics. 48 (6): 315–21. doi:10.1007/s10038-003-0031-5. PMID 12783284.

External links

• SCYL1BP1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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