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GORAB golgin, RAB6 interacting [ Homo sapiens (human) ]

Gene ID: 92344, updated on 3-Jun-2018
Official Symbol
GORABprovided by HGNC
Official Full Name
golgin, RAB6 interactingprovided by HGNC
Primary source
HGNC:HGNC:25676
See related
Ensembl:ENSG00000120370 MIM:607983; Vega:OTTHUMG00000035228
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GO; NTKLBP1; SCYL1BP1
Summary
This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. 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. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
Expression
Ubiquitous expression in testis (RPKM 3.9), lymph node (RPKM 3.7) and 25 other tissues See more
Orthologs
See GORAB in Genome Data Viewer
Location:
1q24.2
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (170532122..170553834)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (170501263..170522974)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1142 Neighboring gene HAUS augmin like complex subunit 4 pseudogene 1 Neighboring gene uncharacterized LOC101928650 Neighboring gene uncharacterized LOC105371610 Neighboring gene paired related homeobox 1

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • p53 signaling pathway, organism-specific biosystem (from KEGG)
    p53 signaling pathway, organism-specific biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
  • p53 signaling pathway, conserved biosystem (from KEGG)
    p53 signaling pathway, conserved biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ11752, MGC51263, MGC70512

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
hair follicle morphogenesis IEA
Inferred from Electronic Annotation
more info
 
non-motile cilium assembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
RAB6-interacting golgin
Names
N-terminal kinase-like-binding protein 1
NTKL-binding protein 1
SCY1-like 1-binding protein 1
SCYL1-BP1
SCYL1-binding protein 1
hNTKL-BP1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012237.1 RefSeqGene

    Range
    5001..26712
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001146039.1NP_001139511.1  RAB6-interacting golgin isoform b precursor

    See identical proteins and their annotated locations for NP_001139511.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (b) is shorter than isoform 1.
    Source sequence(s)
    AK021814, AK308339, BC064945
    Consensus CDS
    CCDS53428.1
    UniProtKB/Swiss-Prot
    Q5T7V8
    Related
    ENSP00000356736.1, OTTHUMP00000033165, ENST00000367762.1, OTTHUMT00000085227
    Conserved Domains (1) summary
    pfam04949
    Location:179238
    Transcrip_act; Transcriptional activator
  2. NM_001320252.1NP_001307181.1  RAB6-interacting golgin isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream in-frame start codon, compared to variant 1. It encodes isoform c, which is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AK021814, AK057661, AK308339, AL162399, BC047476, DB348022
    UniProtKB/Swiss-Prot
    Q5T7V8
    UniProtKB/TrEMBL
    B3KQ87
    Conserved Domains (1) summary
    pfam04949
    Location:2120
    Transcrip_act; Transcriptional activator
  3. NM_152281.2NP_689494.2  RAB6-interacting golgin isoform a precursor

    See identical proteins and their annotated locations for NP_689494.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AF143889, AK021814, AK057661, AK308339, AL162399
    Consensus CDS
    CCDS1289.1
    UniProtKB/Swiss-Prot
    Q5T7V8
    UniProtKB/TrEMBL
    B3KQ87
    Related
    ENSP00000356737.3, OTTHUMP00000033164, ENST00000367763.7, OTTHUMT00000085226
    Conserved Domains (1) summary
    pfam04949
    Location:179300
    Transcrip_act; Transcriptional activator

RNA

  1. NR_027397.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF143889, AK057661, AK308339, AL162399

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    170532122..170553834
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002807.1XP_016858296.1  RAB6-interacting golgin isoform X2

    UniProtKB/Swiss-Prot
    Q5T7V8
    Conserved Domains (1) summary
    pfam04949
    Location:2120
    Transcrip_act; Transcriptional activator
  2. XM_011510149.2XP_011508451.1  RAB6-interacting golgin isoform X1

    Conserved Domains (1) summary
    pfam04949
    Location:162283
    Transcrip_act; Transcriptional activator
  3. XM_011510151.1XP_011508453.1  RAB6-interacting golgin isoform X2

    See identical proteins and their annotated locations for XP_011508453.1

    UniProtKB/Swiss-Prot
    Q5T7V8
    Conserved Domains (1) summary
    pfam04949
    Location:2120
    Transcrip_act; Transcriptional activator
  4. XM_011510150.3XP_011508452.1  RAB6-interacting golgin isoform X2

    See identical proteins and their annotated locations for XP_011508452.1

    UniProtKB/Swiss-Prot
    Q5T7V8
    Conserved Domains (1) summary
    pfam04949
    Location:2120
    Transcrip_act; Transcriptional activator
  5. XM_024450864.1XP_024306632.1  RAB6-interacting golgin isoform X2

    Conserved Domains (1) summary
    pfam04949
    Location:2120
    Transcrip_act; Transcriptional activator
  6. XM_006711628.4XP_006711691.1  RAB6-interacting golgin isoform X2

    See identical proteins and their annotated locations for XP_006711691.1

    UniProtKB/Swiss-Prot
    Q5T7V8
    Conserved Domains (1) summary
    pfam04949
    Location:2120
    Transcrip_act; Transcriptional activator
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