GORAB

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GORAB
Identifiers
Aliases GORAB, GO, NTKLBP1, SCYL1BP1, golgin, RAB6 interacting
External IDs MGI: 2138271 HomoloGene: 45113 GeneCards: GORAB
Gene location (Human)
Chromosome 1 (human)
Chr. Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for GORAB
Genomic location for GORAB
Band 1q24.2 Start 170,532,129 bp[1]
End 170,553,446 bp[1]
Orthologs
Species Human Mouse
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]

Function[edit]

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[edit]

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

See also[edit]

References[edit]

Further reading[edit]

External links[edit]

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