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

Gene ID: 57799, updated on 12-May-2016
Official Symbol
RAB40Cprovided by HGNC
Official Full Name
RAB40C, member RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:18285
See related
Ensembl:ENSG00000197562 HPRD:10182; Vega:OTTHUMG00000047854
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
Orthologs
Location:
16p13.3
Exon count:
9
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (589357..629273)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (639357..679273)

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 LOC101929280 Neighboring gene WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 Neighboring gene chromosome 16 open reading frame 13

NHGRI GWAS Catalog

Description
Identification of ten loci associated with height highlights new biological pathways in human growth.
NHGRI GWA Catalog
Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GDP binding IEA
Inferred from Electronic Annotation
more info
 
GTP binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
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

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_001172663.1NP_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
    Q96S21
    Related
    ENSP00000438492, ENST00000535977
    Conserved Domains (3) 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 ...
    pfam00071
    Location:16175
    Ras; Ras family
  2. NM_001172664.1NP_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
    Q96S21
    Related
    ENSP00000445050, ENST00000539661
    Conserved Domains (3) 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 ...
    pfam00071
    Location:16175
    Ras; Ras family
  3. NM_001172665.1NP_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
    Consensus CDS
    CCDS10413.1
    UniProtKB/Swiss-Prot
    Q96S21
    Related
    ENSP00000438382, ENST00000538492
    Conserved Domains (3) 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 ...
    pfam00071
    Location:16175
    Ras; Ras family
  4. NM_001172666.1NP_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
    UniProtKB/Swiss-Prot
    Q96S21
    Related
    ENSP00000455225, OTTHUMP00000249932, ENST00000563109, OTTHUMT00000421757
    Conserved Domains (3) 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 ...
    pfam00071
    Location:16156
    Ras; Ras family
    cl21455
    Location:9262
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  5. NM_021168.4NP_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
    Consensus CDS
    CCDS10413.1
    UniProtKB/Swiss-Prot
    Q96S21
    Related
    ENSP00000248139, OTTHUMP00000045523, ENST00000248139, OTTHUMT00000109079
    Conserved Domains (3) 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 ...
    pfam00071
    Location:16175
    Ras; Ras family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    589357..629273
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    639212..679111
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)