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RAB40AL RAB40A like [ Homo sapiens (human) ]

Gene ID: 282808, updated on 5-Jan-2022

Summary

Official Symbol
RAB40ALprovided by HGNC
Official Full Name
RAB40A likeprovided by HGNC
Primary source
HGNC:HGNC:25410
See related
Ensembl:ENSG00000102128 MIM:300405
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RAR2; RLGP; MRXSMP
Summary
This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. Disruptions in this gene are associated with Duchenne muscular dystrophy. [provided by RefSeq, Apr 2010]
Orthologs
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Genomic context

See RAB40AL in Genome Data Viewer
Location:
Xq22.1
Exon count:
1
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (102937272..102938300)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (102192200..102193228)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ARMCX5-GPRASP2 readthrough Neighboring gene long intergenic non-protein coding RNA 630 Neighboring gene MT-ND6 pseudogene 32 Neighboring gene MT-CYB pseudogene 32 Neighboring gene NUDT19 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 49 Neighboring gene brain expressed X-linked 1

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC119958, MGC119959, MGC119960, MGC119961

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
 
enables GTPase activity IEA
Inferred from Electronic Annotation
more info
 
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
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion 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-40A-like
Names
RAB40A, member RAS oncogene family-like
Ras like GTPase
SOCS box containing protein RAR2
ras-like GTPase

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.

Genomic

  1. NG_017150.1 RefSeqGene

    Range
    5001..6029
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001031834.1NP_001027004.1  ras-related protein Rab-40A-like

    See identical proteins and their annotated locations for NP_001027004.1

    Status: REVIEWED

    Source sequence(s)
    BC101172
    Consensus CDS
    CCDS35353.1
    UniProtKB/Swiss-Prot
    P0C0E4
    Related
    ENSP00000218249.5, ENST00000218249.7
    Conserved Domains (2) summary
    cd03742
    Location:187228
    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:9278
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    102937272..102938300
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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