GORAB

Protein-coding gene in the species Homo sapiens
GORAB
Identifiers
AliasesGORAB, GO, NTKLBP1, SCYL1BP1, golgin, RAB6 interacting
External IDsOMIM: 607983; MGI: 2138271; HomoloGene: 45113; GeneCards: GORAB; OMA:GORAB - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for GORAB
Genomic location for GORAB
Band1q24.2Start170,531,819 bp[1]
End170,553,834 bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for GORAB
Genomic location for GORAB
Band1|1 H2.1Start163,212,477 bp[2]
End163,231,238 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 1: 163.21 – 163.23 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

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

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000120370 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b c "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.

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


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