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GORAB

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(Redirected from SCYL1BP1)
GORAB
Identifiers
AliasesGORAB, GO, NTKLBP1, SCYL1BP1, golgin, RAB6 interacting
External IDsOMIM: 607983; MGI: 2138271; HomoloGene: 45113; GeneCards: GORAB; OMA:GORAB - orthologs
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 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

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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

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

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000120370Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040124Ensembl, 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

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