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RASA3 RAS p21 protein activator 3 [ Homo sapiens (human) ]

Gene ID: 22821, updated on 4-Jun-2020

Summary

Official Symbol
RASA3provided by HGNC
Official Full Name
RAS p21 protein activator 3provided by HGNC
Primary source
HGNC:HGNC:20331
See related
Ensembl:ENSG00000185989 MIM:605182
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
GAPIII; GAP1IP4BP
Summary
This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Expression
Ubiquitous expression in fat (RPKM 14.2), lymph node (RPKM 12.1) and 25 other tissues See more
Orthologs

Genomic context

See RASA3 in Genome Data Viewer
Location:
13q34
Exon count:
29
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (113977783..114132623, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (114747194..114898095, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377806 Neighboring gene chromosome 13 open reading frame 46 Neighboring gene uncharacterized LOC107987192 Neighboring gene uncharacterized LOC107984593 Neighboring gene CFAP97 domain containing 2 Neighboring gene microRNA 548ar Neighboring gene cell division cycle 16

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

Homology

Clone Names

  • MGC46517, MGC47588

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
calcium-release channel activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
negative regulation of Ras protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
release of sequestered calcium ion into cytosol IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
intrinsic component of the cytoplasmic side of the plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ras GTPase-activating protein 3
Names
GTPase activating protein III
GTPase-activating protein 1 family, inositol 1,3,4,5-tetrakisphosphate-binding protein
Ins(1,3,4,5)P4-binding protein
ins P4-binding protein

NCBI Reference Sequences (RefSeq)

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_001320821.2NP_001307750.1  ras GTPase-activating protein 3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains two alternate exons in the 5' region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a much shorter N-terminus than isoform 1.
    Source sequence(s)
    AK128094, AL161774, BC047242, DA328760
    UniProtKB/Swiss-Prot
    Q14644
    Conserved Domains (4) summary
    smart00107
    Location:296331
    BTK; Bruton's tyrosine kinase Cys-rich motif
    cd13371
    Location:179303
    PH_GAP1_mammal-like; GAP1(IP4BP) pleckstrin homology (PH) domain
    pfam00169
    Location:194293
    PH; PH domain
    cl02569
    Location:1182
    RasGAP; Ras GTPase Activating Domain
  2. NM_001320822.2NP_001307751.1  ras GTPase-activating protein 3 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AK294913, AL161774, BC047242
    UniProtKB/Swiss-Prot
    Q14644
    Conserved Domains (7) summary
    smart00107
    Location:647682
    BTK; Bruton's tyrosine kinase Cys-rich motif
    cd04010
    Location:114256
    C2B_RasA3; C2 domain second repeat present in RAS p21 protein activator 3 (RasA3)
    cd08401
    Location:1101
    C2A_RasA2_RasA3; C2 domain first repeat present in RasA2 and RasA3
    cd05134
    Location:265533
    RasGAP_RASA3; Ras-GTPase Activating Domain of RASA3
    smart00323
    Location:243582
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd13371
    Location:530654
    PH_GAP1_mammal-like; GAP1(IP4BP) pleckstrin homology (PH) domain
    pfam00169
    Location:545644
    PH; PH domain
  3. NM_007368.4NP_031394.2  ras GTPase-activating protein 3 isoform 1

    See identical proteins and their annotated locations for NP_031394.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK128094, BC038456, BC047242, DA328760
    Consensus CDS
    CCDS32016.1
    UniProtKB/Swiss-Prot
    Q14644
    Related
    ENSP00000335029.7, ENST00000334062.8
    Conserved Domains (5) summary
    smart00107
    Location:679714
    BTK; Bruton's tyrosine kinase Cys-rich motif
    cd04010
    Location:146288
    C2B_RasA3; C2 domain second repeat present in RAS p21 protein activator 3 (RasA3)
    cd08401
    Location:13133
    C2A_RasA2_RasA3; C2 domain first repeat present in RasA2 and RasA3
    cd05134
    Location:297565
    RasGAP_RASA3; Ras-GTPase Activating Domain of RASA3
    cd13371
    Location:562686
    PH_GAP1_mammal-like; GAP1(IP4BP) pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    113977783..114132623 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020439.1XP_016875928.1  ras GTPase-activating protein 3 isoform X2

    Conserved Domains (4) summary
    smart00107
    Location:296331
    BTK; Bruton's tyrosine kinase Cys-rich motif
    cd13371
    Location:179303
    PH_GAP1_mammal-like; GAP1(IP4BP) pleckstrin homology (PH) domain
    pfam00169
    Location:194293
    PH; PH domain
    cl02569
    Location:1182
    RasGAP; Ras GTPase Activating Domain
  2. XM_017020438.1XP_016875927.1  ras GTPase-activating protein 3 isoform X2

    Conserved Domains (4) summary
    smart00107
    Location:296331
    BTK; Bruton's tyrosine kinase Cys-rich motif
    cd13371
    Location:179303
    PH_GAP1_mammal-like; GAP1(IP4BP) pleckstrin homology (PH) domain
    pfam00169
    Location:194293
    PH; PH domain
    cl02569
    Location:1182
    RasGAP; Ras GTPase Activating Domain
  3. XM_011534841.3XP_011533143.1  ras GTPase-activating protein 3 isoform X1

    See identical proteins and their annotated locations for XP_011533143.1

    UniProtKB/Swiss-Prot
    Q14644
    Conserved Domains (7) summary
    smart00107
    Location:647682
    BTK; Bruton's tyrosine kinase Cys-rich motif
    cd04010
    Location:114256
    C2B_RasA3; C2 domain second repeat present in RAS p21 protein activator 3 (RasA3)
    cd08401
    Location:1101
    C2A_RasA2_RasA3; C2 domain first repeat present in RasA2 and RasA3
    cd05134
    Location:265533
    RasGAP_RASA3; Ras-GTPase Activating Domain of RASA3
    smart00323
    Location:243582
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd13371
    Location:530654
    PH_GAP1_mammal-like; GAP1(IP4BP) pleckstrin homology (PH) domain
    pfam00169
    Location:545644
    PH; PH domain
  4. XM_011534842.2XP_011533144.1  ras GTPase-activating protein 3 isoform X1

    See identical proteins and their annotated locations for XP_011533144.1

    UniProtKB/Swiss-Prot
    Q14644
    Conserved Domains (7) summary
    smart00107
    Location:647682
    BTK; Bruton's tyrosine kinase Cys-rich motif
    cd04010
    Location:114256
    C2B_RasA3; C2 domain second repeat present in RAS p21 protein activator 3 (RasA3)
    cd08401
    Location:1101
    C2A_RasA2_RasA3; C2 domain first repeat present in RasA2 and RasA3
    cd05134
    Location:265533
    RasGAP_RASA3; Ras-GTPase Activating Domain of RASA3
    smart00323
    Location:243582
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd13371
    Location:530654
    PH_GAP1_mammal-like; GAP1(IP4BP) pleckstrin homology (PH) domain
    pfam00169
    Location:545644
    PH; PH domain

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_011332698.1 Reference GRCh38.p13 PATCHES

    Range
    40809..191714 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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