GORAB
Identifiers
AliasesGORAB, GO, NTKLBP1, SCYL1BP1, golgin, RAB6 interacting
External IDsOMIM: 607983 MGI: 2138271 HomoloGene: 45113 GeneCards: GORAB
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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000120370 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 3 "Entrez Gene: Golgin, RAB6-interacting".

Further reading

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

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