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

Gene ID: 285282, updated on 7-Apr-2024

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; AllianceGenome:HGNC:18072
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
Summary
Predicted to enable GTP binding activity; GTPase activity; and protein homodimerization activity. Involved in regulation of Ras protein signal transduction and regulation of protein lipidation. Predicted to be active in endomembrane system. Implicated in pancreatic cancer. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 12.2), adrenal (RPKM 10.9) and 25 other tissues See more
Orthologs
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Genomic context

See RABL3 in Genome Data Viewer
Location:
3q13.33
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (120684938..120742680, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (123404816..123462558, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (120403785..120461527, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20335 Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:120360644-120361843 Neighboring gene homogentisate 1,2-dioxygenase Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:120395854-120396804 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:120438328-120438887 Neighboring gene MT-CO1 pseudogene 29 Neighboring gene MT-CO2 pseudogene 29 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:120461263-120461901 Neighboring gene general transcription factor IIE subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20339 Neighboring gene Sharpr-MPRA regulatory region 15271 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: C5231459 OMIM: 618680 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC23920

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in T cell differentiation in thymus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in natural killer cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein stabilization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of Ras protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of protein lipidation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
 

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

    Status: VALIDATED

    Source sequence(s)
    AC117472, AC133474
    Consensus CDS
    CCDS87127.1
    UniProtKB/TrEMBL
    C9JXM3
    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, Q8WUD3
    Related
    ENSP00000273375.4, ENST00000273375.8
    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: 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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    120684938..120742680 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    123404816..123462558 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)