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

    Gene ID: 339122, updated on 27-Nov-2024

    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 AllianceGenome:HGNC:19983
    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
    Summary
    Enables GTPase activity. Involved in Golgi organization; phagosome maturation; and retrograde transport, plasma membrane to Golgi. Located in Golgi apparatus and phagocytic vesicle. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 20.1), lung (RPKM 12.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RAB43 in Genome Data Viewer
    Location:
    3q21.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (129087569..129122150, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (131832460..131867053, complement)
    RS_2024_09 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 glycoprotein IX platelet Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:128807293-128807837 Neighboring gene ISY1-RAB43 readthrough Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:128831162-128831662 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:128838731-128839676 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14717 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14718 Neighboring gene ISY1 splicing factor homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20505 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

    Clone Names

    • MGC90481

    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
     
    enables GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Golgi organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in autophagosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to type II interferon IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phagosome maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in retrograde transport, plasma membrane to Golgi IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in virion assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in phagocytic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in phagocytic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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_001204883.2NP_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
      A8K4P9, E9PBQ0, Q86YS6
      Related
      ENSP00000376982.1, ENST00000393305.5
      Conserved Domains (1) summary
      cd01864
      Location:16180
      Rab19; Rab GTPase family 19 (Rab19)
    2. NM_001204884.2NP_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
      A8K4P9, E9PBQ0, 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
      A8K4P9, E9PBQ0, Q86YS6
      Related
      ENSP00000376985.1, ENST00000393308.5
      Conserved Domains (1) summary
      cd01864
      Location:16180
      Rab19; Rab GTPase family 19 (Rab19)
    4. NM_001204886.2NP_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
      A8K4P9, E9PBQ0, Q86YS6
      Related
      ENSP00000376981.1, ENST00000393304.5
      Conserved Domains (1) summary
      cd01864
      Location:16180
      Rab19; Rab GTPase family 19 (Rab19)
    5. NM_001204887.2NP_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_001204888.2NP_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
      A8K4P9, E9PBQ0, Q86YS6
      Related
      ENSP00000319781.6, ENST00000315150.10
      Conserved Domains (1) summary
      cd01864
      Location:16180
      Rab19; Rab GTPase family 19 (Rab19)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      131832460..131867053 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)