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    RAB6D RAB6D, member RAS oncogene family [ Homo sapiens (human) ]

    Gene ID: 150786, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RAB6Dprovided by HGNC
    Official Full Name
    RAB6D, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:HGNC:30272
    See related
    Ensembl:ENSG00000233087 AllianceGenome:HGNC:30272
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RAB6CL; WTH3DI
    Summary
    Predicted to enable GTPase activity. Predicted to be involved in Golgi vesicle transport; intracellular protein transport; and retrograde transport, endosome to Golgi. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See RAB6D in Genome Data Viewer
    Location:
    2q21.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (131360492..131364168, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (131795201..131798903, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (132118065..132121741, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ARHGAP42 pseudogene 1 Neighboring gene fatty acyl-CoA reductase 2 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:132104413-132104914 Neighboring gene SSBP3 pseudogene 2 Neighboring gene MT-CYB pseudogene 10 Neighboring gene MT-ND6 pseudogene 10

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Protein Binder Toolbox for Studies of Solute Carrier Transporters. Gelová Z, et al. J Mol Biol, 2024 Aug 15. PMID 38878854
    2. Screening for target Rabs of TBC (Tre-2/Bub2/Cdc16) domain-containing proteins based on their Rab-binding activity. Itoh T, et al. Genes Cells, 2006 Sep. PMID 16923123
    3. Upregulation of RIN3 induces endosomal dysfunction in Alzheimer's disease. Shen R, et al. Transl Neurodegener, 2020 Jun 18. PMID 32552912, Free PMC Article
    4. The midnolin-proteasome pathway catches proteins for ubiquitination-independent degradation. Gu X, et al. Science, 2023 Aug 25. PMID 37616343, Free PMC Article
    5. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in intra-Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde transport, endosome to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ras-related protein Rab-6D
    Names
    RAB6C-like
    rab6-like protein WTH3DI

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001077637.3 → NP_001071105.1  ras-related protein Rab-6D

      See identical proteins and their annotated locations for NP_001071105.1

      Status: VALIDATED

      Source sequence(s)
      AC073869
      Consensus CDS
      CCDS82514.1
      UniProtKB/Swiss-Prot
      Q53S08
      UniProtKB/TrEMBL
      Q53ET8, Q6FGX3
      Related
      ENSP00000490038.1, ENST00000623617.3
      Conserved Domains (1) summary
      cd01861
      Location:14 → 174
      Rab6; Rab GTPase family 6 (Rab6)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      131360492..131364168 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      131795201..131798903 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_001554.1: Suppressed sequence

      Description
      NG_001554.1: This RefSeq was suppressed because there is evidence to suggest the locus is transcribed and encodes a functional protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q53S08.1 GenPept UniProtKB/Swiss-Prot:Q53S08

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Molecular Biology Databases
    Research Materials