GORAB

Last updated
GORAB
Identifiers
Aliases GORAB , GO, NTKLBP1, SCYL1BP1, golgin, RAB6 interacting
External IDs OMIM: 607983 MGI: 2138271 HomoloGene: 45113 GeneCards: GORAB
Gene location (Human)
Ideogram human chromosome 1.svg
Chr. Chromosome 1 (human) [1]
Human chromosome 1 ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band 1q24.2Start170,532,129 bp [1]
End170,553,446 bp [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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: 163.38 – 163.4 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/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]

Contents

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

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TSC2

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HIPK2

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60S ribosomal protein L5

60S ribosomal protein L5 is a protein that in humans is encoded by the RPL5 gene.

RAB1A

Ras-related protein Rab-1A is a protein that in humans is encoded by the RAB1A gene.

AP3B1

AP-3 complex subunit beta-1 is a protein that in humans is encoded by the AP3B1 gene.

60S ribosomal protein L11

60S ribosomal protein L11 is a protein that in humans is encoded by the RPL11 gene.

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RCHY1

RING finger and CHY zinc finger domain-containing protein 1 is a protein that in humans is encoded by the RCHY1 gene.

SCYL1

SCY1-like 1 , also known as SCYL1, is a human gene which is highly conserved throughout evolution.

PHC2

Polyhomeotic-like protein 2 is a protein that in humans is encoded by the PHC2 gene.

RNF11

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GOLGA5

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RIT1

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IL22RA1

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TNNI3K

TNNI3 interacting kinase is a protein that in humans is encoded by the TNNI3K gene.

JAKMIP2

Janus kinase and microtubule interacting protein 2 is a protein that in humans is encoded by the JAKMIP2 gene.

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.