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RAB43 RAB43, member RAS oncogene family [ Homo sapiens (human) ]

Gene ID: 339122, updated on 4-Jun-2020

Summary

Official Symbol
RAB43provided by HGNC
Official Full Name
RAB43, member RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:19983
See related
Ensembl:ENSG00000172780
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
RAB41; RAB11B
Expression
Ubiquitous expression in thyroid (RPKM 20.1), lung (RPKM 12.9) and 25 other tissues See more
Orthologs

Genomic context

See RAB43 in Genome Data Viewer
Location:
3q21.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (129087569..129122150, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (128806412..128840993, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene jumonji domain containing 4 pseudogene Neighboring gene glycoprotein IX platelet Neighboring gene ISY1-RAB43 readthrough Neighboring gene ISY1 splicing factor homolog Neighboring gene myotonic dystrophy type 2 repeat instability region Neighboring gene CCHC-type zinc finger nucleic acid binding protein

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC90481

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 
GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Golgi organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to interferon-gamma IEA
Inferred from Electronic Annotation
more info
 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phagosome maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
retrograde transport, plasma membrane to Golgi IMP
Inferred from Mutant Phenotype
more info
PubMed 
toxin transport IEA
Inferred from Electronic Annotation
more info
 
virion assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular exosome HDA PubMed 
phagocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
phagocytic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
trans-Golgi network membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ras-related protein Rab-43
Names
ras-related protein Rab-41

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_001204883.1NP_001191812.1  ras-related protein Rab-43 isoform a

    See identical proteins and their annotated locations for NP_001191812.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same isoform (a).
    Source sequence(s)
    AC108673, CA450364, DA317502, DA757569
    Consensus CDS
    CCDS33850.1
    UniProtKB/Swiss-Prot
    Q86YS6
    Related
    ENSP00000376982.1, ENST00000393305.5
    Conserved Domains (1) summary
    cd01864
    Location:16180
    Rab19; Rab GTPase family 19 (Rab19)
  2. NM_001204884.1NP_001191813.1  ras-related protein Rab-43 isoform a

    See identical proteins and their annotated locations for NP_001191813.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same isoform (a).
    Source sequence(s)
    AC108673, CA450364, DA008447
    Consensus CDS
    CCDS33850.1
    UniProtKB/Swiss-Prot
    Q86YS6
    Related
    ENSP00000376984.1, ENST00000393307.5
    Conserved Domains (1) summary
    cd01864
    Location:16180
    Rab19; Rab GTPase family 19 (Rab19)
  3. NM_001204885.1NP_001191814.1  ras-related protein Rab-43 isoform a

    See identical proteins and their annotated locations for NP_001191814.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same isoform (a).
    Source sequence(s)
    AC108673, CA450364, DA103180
    Consensus CDS
    CCDS33850.1
    UniProtKB/Swiss-Prot
    Q86YS6
    Related
    ENSP00000376985.1, ENST00000393308.5
    Conserved Domains (1) summary
    cd01864
    Location:16180
    Rab19; Rab GTPase family 19 (Rab19)
  4. NM_001204886.1NP_001191815.1  ras-related protein Rab-43 isoform a

    See identical proteins and their annotated locations for NP_001191815.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same isoform (a).
    Source sequence(s)
    AC108673, CA450364, DA339537
    Consensus CDS
    CCDS33850.1
    UniProtKB/Swiss-Prot
    Q86YS6
    Related
    ENSP00000376981.1, ENST00000393304.5
    Conserved Domains (1) summary
    cd01864
    Location:16180
    Rab19; Rab GTPase family 19 (Rab19)
  5. NM_001204887.1NP_001191816.1  ras-related protein Rab-43 isoform b

    See identical proteins and their annotated locations for NP_001191816.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) includes an additional alternate exon that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct and shorter C-terminus, compared to isoform a.
    Source sequence(s)
    AC108673, BX331971, CA450364, DB220260
    Consensus CDS
    CCDS56275.1
    UniProtKB/Swiss-Prot
    Q86YS6
    Related
    ENSP00000427632.1, ENST00000476465.5
    Conserved Domains (1) summary
    cl21455
    Location:16129
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  6. NM_001204888.1NP_001191817.1  ras-related protein Rab-43 isoform c

    See identical proteins and their annotated locations for NP_001191817.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) uses an alternate splice site that causes a frameshift in the central and 3' coding regions, compared to variant 1. The encoded isoform (c) has a distinct and shorter C-terminus, compared to isoform a.
    Source sequence(s)
    AC108673, AK128345, CA450364, DB220260
    Conserved Domains (1) summary
    cl21455
    Location:1663
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  7. NM_198490.3NP_940892.1  ras-related protein Rab-43 isoform a

    See identical proteins and their annotated locations for NP_940892.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1-5 all encode the same isoform.
    Source sequence(s)
    AC108673, AY166852, CA450364, DB220260
    Consensus CDS
    CCDS33850.1
    UniProtKB/Swiss-Prot
    Q86YS6
    Related
    ENSP00000319781.5, ENST00000315150.9
    Conserved Domains (1) summary
    cd01864
    Location:16180
    Rab19; Rab GTPase family 19 (Rab19)

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
    129087569..129122150 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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