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    RABL3 RAB, member of RAS oncogene family like 3 [ Homo sapiens (human) ]

    Gene ID: 285282, updated on 19-Jun-2019

    Summary

    Official Symbol
    RABL3provided by HGNC
    Official Full Name
    RAB, member of RAS oncogene family like 3provided by HGNC
    Primary source
    HGNC:HGNC:18072
    See related
    Ensembl:ENSG00000144840
    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
    Expression
    Ubiquitous expression in thyroid (RPKM 12.2), adrenal (RPKM 10.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See RABL3 in Genome Data Viewer
    Location:
    3q13.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (120686681..120742680, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (120405528..120461384, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 Neighboring gene homogentisate 1,2-dioxygenase Neighboring gene MT-CO1 pseudogene 29 Neighboring gene MT-CO2 pseudogene 29 Neighboring gene Sharpr-MPRA regulatory region 5916 Neighboring gene general transcription factor IIE subunit 1 Neighboring gene nucleosome assembly protein 1 like 1 pseudogene 3

    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

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC23920

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    Rab protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    cell IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    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_001363964.1NP_001350893.1  rab-like protein 3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC117472, AC133474
      Consensus CDS
      CCDS87127.1
      Conserved Domains (1) summary
      cd04102
      Location:7186
      RabL3; Rab GTPase-like family 3 (Rab-like3)
    2. NM_001363965.1NP_001350894.1  rab-like protein 3 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC117472, AC133474
      Conserved Domains (1) summary
      cd04102
      Location:7210
      RabL3; Rab GTPase-like family 3 (Rab-like3)
    3. NM_173825.4NP_776186.2  rab-like protein 3 isoform 2

      See identical proteins and their annotated locations for NP_776186.2

      Status: VALIDATED

      Source sequence(s)
      AC117472, AC133474, BX647593
      Consensus CDS
      CCDS3001.1
      UniProtKB/Swiss-Prot
      Q5HYI8
      Related
      ENSP00000273375.3, ENST00000273375.7
      Conserved Domains (1) summary
      cd04102
      Location:7210
      RabL3; Rab GTPase-like family 3 (Rab-like3)

    RNA

    1. NR_157022.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC117472, AC133474

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      120686681..120742680 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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