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

    Gene ID: 92344, updated on 23-Nov-2023

    Summary

    Official Symbol
    GORABprovided by HGNC
    Official Full Name
    golgin, RAB6 interactingprovided by HGNC
    Primary source
    HGNC:HGNC:25676
    See related
    Ensembl:ENSG00000120370 MIM:607983; AllianceGenome:HGNC:25676
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GORAB in Genome Data Viewer
    Location:
    1q24.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (170532166..170553834)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (169888121..169909783)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (170501307..170522975)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1142 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1277 Neighboring gene NANOG hESC enhancer GRCh37_chr1:170284235-170284736 Neighboring gene HAUS augmin like complex subunit 4 pseudogene 1 Neighboring gene GORAB antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:170456497-170457212 Neighboring gene MPRA-validated peak452 silencer Neighboring gene uncharacterized LOC124904453 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:170588042-170589241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:170600473-170600972 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:170607884-170609083 Neighboring gene uncharacterized LOC105371610

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ11752, MGC51263, MGC70512

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in hair follicle morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    RAB6-interacting golgin
    Names
    N-terminal kinase-like-binding protein 1
    NTKL-binding protein 1
    SCY1-like 1-binding protein 1
    SCYL1-binding protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012237.2 RefSeqGene

      Range
      5002..26670
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001146039.2NP_001139511.2  RAB6-interacting golgin isoform b

      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)
      AL162399, BC047476, BC064945
      Consensus CDS
      CCDS53428.2
      Related
      ENSP00000356736.2, ENST00000367762.2
    2. NM_001320252.2NP_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)
      AL162399
      UniProtKB/TrEMBL
      B3KQ87
      Conserved Domains (1) summary
      pfam04949
      Location:2120
      Transcrip_act; Transcriptional activator
    3. NM_001410894.1NP_001397823.1  RAB6-interacting golgin isoform d

      Status: REVIEWED

      Source sequence(s)
      AL162399
      Consensus CDS
      CCDS91103.1
      UniProtKB/TrEMBL
      A0A8I5KW31
      Related
      ENSP00000510426.1, ENST00000688688.1
    4. NM_152281.3NP_689494.3  RAB6-interacting golgin isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AK021814, AK057661, AL162399, BC047476
      Consensus CDS
      CCDS1289.2
      UniProtKB/Swiss-Prot
      Q49A22, Q5T7V8, Q6P1P9, Q9HAE6, Q9Y350
      Related
      ENSP00000356737.4, ENST00000367763.8
      Conserved Domains (1) summary
      pfam04949
      Location:157275
      Transcrip_act; Transcriptional activator

    RNA

    1. NR_027397.2 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)
      AL162399
      Related
      ENST00000692875.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      170532166..170553834
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      169888121..169909783
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)