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    RAB40C RAB40C, member RAS oncogene family [ Homo sapiens (human) ]

    Gene ID: 57799, updated on 11-Apr-2024

    Summary

    Official Symbol
    RAB40Cprovided by HGNC
    Official Full Name
    RAB40C, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:HGNC:18285
    See related
    Ensembl:ENSG00000197562 MIM:619551; AllianceGenome:HGNC:18285
    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
    RARL; RASL8C
    Summary
    Predicted to enable GDP binding activity; GTP binding activity; and GTPase activity. Predicted to be involved in protein localization to plasma membrane. Predicted to be located in perinuclear region of cytoplasm. Predicted to be active in endosome; plasma membrane; and synaptic vesicle. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in skin (RPKM 11.6), brain (RPKM 8.2) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    16p13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (589357..629268)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (593278..633302)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (639357..679268)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:616436-617331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6920 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:620915-621809 Neighboring gene NHL repeat containing 4 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class Q Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6921 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:633157-633913 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:633914-634669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10207 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:638709-639582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6926 Neighboring gene OCT4 hESC enhancer GRCh37_chr16:649581-650082 Neighboring gene uncharacterized LOC124903618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10208 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:671701-672454 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:677407-678140 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:679610-680343 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:680344-681078 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:685245-685904 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6928 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6929 Neighboring gene WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 Neighboring gene methyltransferase like 26

    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

    EBI GWAS Catalog

    Description
    Identification of ten loci associated with height highlights new biological pathways in human growth.
    EBI GWAS Catalog
    Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GDP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    colocalizes_with Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with lipid droplet IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in synaptic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    ras-related protein Rab-40C
    Names
    RAR (RAS like GTPASE) like
    RAR like
    RAS-like GTPase
    RAS-like, family 8, member C
    SOCS box-containing protein RAR3
    rar-like protein
    ras-like protein family member 8C

    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_001172663.2NP_001166134.1  ras-related protein Rab-40C isoform a

      See identical proteins and their annotated locations for NP_001166134.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1-4 all encode the same isoform (a), which is longer than isoform b.
      Source sequence(s)
      BC028696, BG696681, BM677091, CX783728
      Consensus CDS
      CCDS10413.1
      UniProtKB/Swiss-Prot
      A2IDE2, D3DU54, O60795, Q4TT41, Q5PXE8, Q6PIU5, Q96S21
      UniProtKB/TrEMBL
      H3BPA5
      Related
      ENSP00000438492.1, ENST00000535977.5
      Conserved Domains (2) summary
      cd04121
      Location:9281
      Rab40; Rab GTPase family 40 (Rab40) contains Rab40a, Rab40b and Rab40c
      cd03742
      Location:187229
      SOCS_Rab40; SOCS (suppressors of cytokine signaling) box of Rab40-like proteins. Rab40 is part of the Rab family of small GTP-binding proteins that form the largest family within the Ras superfamily. Rab proteins regulate vesicular trafficking pathways, behaving as ...
    2. NM_001172664.2NP_001166135.1  ras-related protein Rab-40C isoform a

      See identical proteins and their annotated locations for NP_001166135.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-4 all encode the same isoform (a), which is longer than isoform b.
      Source sequence(s)
      BC028696, BG715678, BM677091
      Consensus CDS
      CCDS10413.1
      UniProtKB/Swiss-Prot
      A2IDE2, D3DU54, O60795, Q4TT41, Q5PXE8, Q6PIU5, Q96S21
      UniProtKB/TrEMBL
      H3BPA5
      Related
      ENSP00000445050.1, ENST00000539661.5
      Conserved Domains (2) summary
      cd04121
      Location:9281
      Rab40; Rab GTPase family 40 (Rab40) contains Rab40a, Rab40b and Rab40c
      cd03742
      Location:187229
      SOCS_Rab40; SOCS (suppressors of cytokine signaling) box of Rab40-like proteins. Rab40 is part of the Rab family of small GTP-binding proteins that form the largest family within the Ras superfamily. Rab proteins regulate vesicular trafficking pathways, behaving as ...
    3. NM_001172665.2NP_001166136.1  ras-related protein Rab-40C isoform a

      See identical proteins and their annotated locations for NP_001166136.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1-4 all encode the same isoform (a), which is longer than isoform b.
      Source sequence(s)
      BC028696, BM677091, BQ685517, BX442451, Z98883
      Consensus CDS
      CCDS10413.1
      UniProtKB/Swiss-Prot
      A2IDE2, D3DU54, O60795, Q4TT41, Q5PXE8, Q6PIU5, Q96S21
      UniProtKB/TrEMBL
      H3BPA5
      Related
      ENSP00000438382.1, ENST00000538492.5
      Conserved Domains (2) summary
      cd04121
      Location:9281
      Rab40; Rab GTPase family 40 (Rab40) contains Rab40a, Rab40b and Rab40c
      cd03742
      Location:187229
      SOCS_Rab40; SOCS (suppressors of cytokine signaling) box of Rab40-like proteins. Rab40 is part of the Rab family of small GTP-binding proteins that form the largest family within the Ras superfamily. Rab proteins regulate vesicular trafficking pathways, behaving as ...
    4. NM_001172666.2NP_001166137.1  ras-related protein Rab-40C isoform b

      See identical proteins and their annotated locations for NP_001166137.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (b) lacks an internal segment, compared to isoform a.
      Source sequence(s)
      AY823398, BC028696, BM677091, BX442451, Z98883
      UniProtKB/TrEMBL
      H3BPA5
      Related
      ENSP00000455225.1, ENST00000563109.1
      Conserved Domains (2) summary
      cd03742
      Location:168210
      SOCS_Rab40; SOCS (suppressors of cytokine signaling) box of Rab40-like proteins. Rab40 is part of the Rab family of small GTP-binding proteins that form the largest family within the Ras superfamily. Rab proteins regulate vesicular trafficking pathways, behaving as ...
      cl21455
      Location:9262
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    5. NM_021168.5NP_066991.3  ras-related protein Rab-40C isoform a

      See identical proteins and their annotated locations for NP_066991.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-4 all encode the same isoform (a), which is longer than isoform b.
      Source sequence(s)
      BC028696, BM545442, BM677091, Z98883
      Consensus CDS
      CCDS10413.1
      UniProtKB/Swiss-Prot
      A2IDE2, D3DU54, O60795, Q4TT41, Q5PXE8, Q6PIU5, Q96S21
      UniProtKB/TrEMBL
      H3BPA5
      Related
      ENSP00000248139.3, ENST00000248139.8
      Conserved Domains (2) summary
      cd04121
      Location:9281
      Rab40; Rab GTPase family 40 (Rab40) contains Rab40a, Rab40b and Rab40c
      cd03742
      Location:187229
      SOCS_Rab40; SOCS (suppressors of cytokine signaling) box of Rab40-like proteins. Rab40 is part of the Rab family of small GTP-binding proteins that form the largest family within the Ras superfamily. Rab proteins regulate vesicular trafficking pathways, behaving as ...

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      589357..629268
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      593278..633302
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)