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RASAL3 RAS protein activator like 3 [ Homo sapiens (human) ]

Gene ID: 64926, updated on 21-Dec-2019

Summary

Official Symbol
RASAL3provided by HGNC
Official Full Name
RAS protein activator like 3provided by HGNC
Primary source
HGNC:HGNC:26129
See related
Ensembl:ENSG00000105122 MIM:616561
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
Summary
This gene belongs to the Ras GTPase-activating proteins (RasGAP) family and encodes a protein with pleckstrin homology (PH), C2, and Ras GTPase-activation protein (RasGAP) domains. This protein is localized near or at the plasma membrane when expressed exogenously. Reduced expression of this gene in some cell lines resulted in increased levels of the active form of Ras (Ras-GTP), suggesting that this gene may play a role in negatively regulating the Ras signaling pathway. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]
Expression
Broad expression in lymph node (RPKM 18.0), spleen (RPKM 15.7) and 14 other tissues See more
Orthologs

Genomic context

See RASAL3 in Genome Data Viewer
Location:
19p13.12
Exon count:
18
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (15451624..15464571, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (15562435..15575382, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9920 Neighboring gene A-kinase anchoring protein 8 like Neighboring gene WIZ zinc finger Neighboring gene microRNA 1470 Neighboring gene peptidoglycan recognition protein 2 Neighboring gene staufen double-stranded RNA binding protein 1 pseudogene Neighboring gene cytochrome P450 family 4 subfamily F member 22

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ00087, FLJ21438, DKFZp667E013

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity 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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of NK T cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell cortex IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic side of membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
membrane HDA PubMed 

General protein information

Preferred Names
RAS protein activator like-3

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.

Genomic

  1. NG_052951.1 RefSeqGene

    Range
    5038..17958
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001348027.2NP_001334956.1  RAS protein activator like-3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks multiple exons in the 3' coding region and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AC011492, AK122587
    UniProtKB/Swiss-Prot
    Q86YV0
    Conserved Domains (3) summary
    cd13374
    Location:180321
    PH_RASAL3; RAS protein activator like-3 Pleckstrin homology (PH) domain
    cl02569
    Location:426574
    RasGAP; Ras GTPase Activating Domain
    cl14603
    Location:294406
    C2; C2 domain
  2. NM_001348028.2NP_001334957.1  RAS protein activator like-3 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in its 5' coding region, lacks multiple exons in the 3' coding region, and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' UTR, compared to variant 1. The encoded isoform (3) lacks a small internal segment and has a shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AC011492, AK122587, AL561064
    UniProtKB/Swiss-Prot
    Q86YV0
    Conserved Domains (3) summary
    cl02569
    Location:420568
    RasGAP; Ras GTPase Activating Domain
    cl14603
    Location:288400
    C2; C2 domain
    cl17171
    Location:180315
    PH-like; Pleckstrin homology-like domain
  3. NM_022904.3NP_075055.1  RAS protein activator like-3 isoform 1

    See identical proteins and their annotated locations for NP_075055.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK122587, BC030281
    Consensus CDS
    CCDS46006.1
    UniProtKB/Swiss-Prot
    Q86YV0
    Related
    ENSP00000341905.5, ENST00000343625.12
    Conserved Domains (4) summary
    cd05136
    Location:426743
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    cd13374
    Location:180321
    PH_RASAL3; RAS protein activator like-3 Pleckstrin homology (PH) domain
    pfam12329
    Location:889972
    TMF_DNA_bd; TATA element modulatory factor 1 DNA binding
    cl14603
    Location:294406
    C2; C2 domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    15451624..15464571 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528186.1XP_011526488.1  RAS protein activator like-3 isoform X2

    Conserved Domains (4) summary
    cd05136
    Location:420740
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    pfam12329
    Location:886969
    TMF_DNA_bd; TATA element modulatory factor 1 DNA binding
    cl14603
    Location:288400
    C2; C2 domain
    cl17171
    Location:180315
    PH-like; Pleckstrin homology-like domain
  2. XM_024451656.1XP_024307424.1  RAS protein activator like-3 isoform X3

    Conserved Domains (4) summary
    cd05136
    Location:420737
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    cl14603
    Location:288400
    C2; C2 domain
    cl17171
    Location:180315
    PH-like; Pleckstrin homology-like domain
    cl25732
    Location:882980
    SMC_N; RecF/RecN/SMC N terminal domain
  3. XM_011528187.1XP_011526489.1  RAS protein activator like-3 isoform X4

    Conserved Domains (4) summary
    cd05136
    Location:426746
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    cd13374
    Location:180321
    PH_RASAL3; RAS protein activator like-3 Pleckstrin homology (PH) domain
    pfam12329
    Location:892943
    TMF_DNA_bd; TATA element modulatory factor 1 DNA binding
    cl14603
    Location:294406
    C2; C2 domain
  4. XM_011528185.1XP_011526487.1  RAS protein activator like-3 isoform X1

    Conserved Domains (4) summary
    cd05136
    Location:426746
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    cd13374
    Location:180321
    PH_RASAL3; RAS protein activator like-3 Pleckstrin homology (PH) domain
    pfam12329
    Location:892975
    TMF_DNA_bd; TATA element modulatory factor 1 DNA binding
    cl14603
    Location:294406
    C2; C2 domain

RNA

  1. XR_001753737.1 RNA Sequence

  2. XR_936203.2 RNA Sequence

  3. XR_936202.1 RNA Sequence

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