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

Gene ID: 285282, updated on 3-May-2020

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 MIM:618542
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
PNCA5
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
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (120684938..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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
PANCREATIC CANCER, SUSCEPTIBILITY TO, 5
MedGen: CN262920 OMIM: 618680 GeneReviews: Not available
not available

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
endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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
    Related
    ENSP00000419986.1, ENST00000483733.1
    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_173825.5NP_776186.2  rab-like protein 3 isoform 2

    See identical proteins and their annotated locations for NP_776186.2

    Status: VALIDATED

    Source sequence(s)
    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
    Related
    ENST00000648525.1

RefSeqs of Annotated Genomes: Homo sapiens Updated 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
    120684938..120742680 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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