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

Gene ID: 57799, updated on 7-Aug-2022

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
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Genomic context

See RAB40C in Genome Data Viewer
Location:
16p13.3
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (589357..629268)
110 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 NHL repeat containing 4 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class Q Neighboring gene uncharacterized LOC124903618 Neighboring gene Sharpr-MPRA regulatory region 12344 Neighboring gene WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1

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

Homology

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
PubMed 
Process Evidence Code Pubs
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in protein localization to plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with lipid droplet IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in synaptic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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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_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
    Q6PIU5, Q96S21
    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
    Q6PIU5, Q96S21
    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
    Q6PIU5, Q96S21
    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/Swiss-Prot
    Q96S21
    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
    Q6PIU5, Q96S21
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)