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RASAL1 RAS protein activator like 1 [ Homo sapiens (human) ]

Gene ID: 8437, updated on 24-Nov-2020

Summary

Official Symbol
RASAL1provided by HGNC
Official Full Name
RAS protein activator like 1provided by HGNC
Primary source
HGNC:HGNC:9873
See related
Ensembl:ENSG00000111344 MIM:604118
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
RASAL
Summary
The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member contains domains which are characteristic of the GAP1 subfamily of RasGAP proteins but, in contrast to the other GAP1 family members, this protein is strongly and selectively expressed in endocrine tissues. Alternatively spliced transcript variants that encode different isoforms have been described [provided by RefSeq, Jul 2010]
Expression
Broad expression in brain (RPKM 6.0), lymph node (RPKM 5.1) and 18 other tissues See more
Orthologs

Genomic context

See RASAL1 in Genome Data Viewer
Location:
12q24.13
Exon count:
23
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (113096515..113136248, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (113536624..113574044, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene inner mitochondrial membrane peptidase subunit 1 pseudogene 2 Neighboring gene ribosomal protein S15a pseudogene 32 Neighboring gene deltex E3 ubiquitin ligase 1 Neighboring gene cilia and flagella associated protein 73 Neighboring gene microRNA 7106 Neighboring gene DEAD-box helicase 54 Neighboring gene RBPJ interacting and tubulin associated 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phospholipid binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
cellular response to calcium ion IEA
Inferred from Electronic Annotation
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
 
positive regulation of dendrite extension IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
colocalizes_with plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
rasGAP-activating-like protein 1
Names
GAP1 like protein
ras GTPase-activating-like 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.

Genomic

  1. NG_047089.1 RefSeqGene

    Range
    5001..42421
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001193520.1NP_001180449.1  rasGAP-activating-like protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001180449.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AB208935, AC089999
    Consensus CDS
    CCDS55889.1
    UniProtKB/Swiss-Prot
    O95294
    Related
    ENSP00000450244.1, ENST00000546530.5
    Conserved Domains (6) summary
    cd05135
    Location:263550
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    smart00323
    Location:243606
    RasGAP; GTPase-activator protein for Ras-like GTPases
    pfam00169
    Location:568674
    PH; PH domain
    pfam00779
    Location:683710
    BTK; BTK motif
    cl14603
    Location:134255
    C2; C2 domain
    cl17171
    Location:554691
    PH-like; Pleckstrin homology-like domain
  2. NM_001193521.2NP_001180450.1  rasGAP-activating-like protein 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses three alternate, in-frame splice site in the coding region compared to variant 1. The resulting protein (isoform 3) is shorter but has the same N- and C-termini compared to isoform 1.
    Source sequence(s)
    AC089999, BC014420
    Consensus CDS
    CCDS55888.1
    UniProtKB/Swiss-Prot
    O95294
    Related
    ENSP00000395920.3, ENST00000446861.7
    Conserved Domains (5) summary
    cd05135
    Location:263549
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    smart00323
    Location:243604
    RasGAP; GTPase-activator protein for Ras-like GTPases
    pfam00779
    Location:653680
    BTK; BTK motif
    cl14603
    Location:134255
    C2; C2 domain
    cl17171
    Location:552661
    PH-like; Pleckstrin homology-like domain
  3. NM_001301202.1NP_001288131.1  rasGAP-activating-like protein 1 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate, in-frame splice site in the 3' coding region compared to variant 1. The resulting protein (isoform 4) is shorter but has the same N- and C-termini compared to isoform 1.
    Source sequence(s)
    AB208935, AC089999, BC014420, BC143261
    Consensus CDS
    CCDS73529.1
    UniProtKB/Swiss-Prot
    O95294
    Related
    ENSP00000448510.1, ENST00000548055.1
    Conserved Domains (6) summary
    cd05135
    Location:263549
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    smart00323
    Location:243605
    RasGAP; GTPase-activator protein for Ras-like GTPases
    pfam00169
    Location:567673
    PH; PH domain
    pfam00779
    Location:682709
    BTK; BTK motif
    cl14603
    Location:134255
    C2; C2 domain
    cl17171
    Location:553690
    PH-like; Pleckstrin homology-like domain
  4. NM_004658.2NP_004649.2  rasGAP-activating-like protein 1 isoform 2

    See identical proteins and their annotated locations for NP_004649.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses two alternate, in-frame splice sites in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
    Source sequence(s)
    AC089999, AF086713, BC093724
    Consensus CDS
    CCDS9165.1
    UniProtKB/Swiss-Prot
    O95294
    Related
    ENSP00000261729.5, ENST00000261729.9
    Conserved Domains (6) summary
    cd05135
    Location:263549
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    smart00323
    Location:243604
    RasGAP; GTPase-activator protein for Ras-like GTPases
    pfam00169
    Location:566672
    PH; PH domain
    pfam00779
    Location:681708
    BTK; BTK motif
    cl14603
    Location:134255
    C2; C2 domain
    cl17171
    Location:552689
    PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    113096515..113136248 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020028.1XP_016875517.1  rasGAP-activating-like protein 1 isoform X2

    UniProtKB/Swiss-Prot
    O95294
    Conserved Domains (6) summary
    cd05135
    Location:263549
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    smart00323
    Location:243605
    RasGAP; GTPase-activator protein for Ras-like GTPases
    pfam00169
    Location:567673
    PH; PH domain
    pfam00779
    Location:682709
    BTK; BTK motif
    cl14603
    Location:134255
    C2; C2 domain
    cl17171
    Location:553690
    PH-like; Pleckstrin homology-like domain
  2. XM_017020031.1XP_016875520.1  rasGAP-activating-like protein 1 isoform X6

  3. XM_005253950.4XP_005254007.1  rasGAP-activating-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005254007.1

    UniProtKB/Swiss-Prot
    O95294
    Conserved Domains (6) summary
    cd05135
    Location:263550
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    smart00323
    Location:243606
    RasGAP; GTPase-activator protein for Ras-like GTPases
    pfam00169
    Location:568674
    PH; PH domain
    pfam00779
    Location:683710
    BTK; BTK motif
    cl14603
    Location:134255
    C2; C2 domain
    cl17171
    Location:554691
    PH-like; Pleckstrin homology-like domain
  4. XM_017020030.1XP_016875519.1  rasGAP-activating-like protein 1 isoform X5

  5. XM_006719641.3XP_006719704.1  rasGAP-activating-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006719704.1

    UniProtKB/Swiss-Prot
    O95294
    Conserved Domains (6) summary
    cd05135
    Location:263550
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    smart00323
    Location:243606
    RasGAP; GTPase-activator protein for Ras-like GTPases
    pfam00169
    Location:568674
    PH; PH domain
    pfam00779
    Location:683710
    BTK; BTK motif
    cl14603
    Location:134255
    C2; C2 domain
    cl17171
    Location:554691
    PH-like; Pleckstrin homology-like domain
  6. XM_011538853.2XP_011537155.1  rasGAP-activating-like protein 1 isoform X4

    See identical proteins and their annotated locations for XP_011537155.1

    UniProtKB/Swiss-Prot
    O95294
    Conserved Domains (6) summary
    cd05135
    Location:263549
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    smart00323
    Location:243604
    RasGAP; GTPase-activator protein for Ras-like GTPases
    pfam00169
    Location:566672
    PH; PH domain
    pfam00779
    Location:681708
    BTK; BTK motif
    cl14603
    Location:134255
    C2; C2 domain
    cl17171
    Location:552689
    PH-like; Pleckstrin homology-like domain
  7. XM_006719642.3XP_006719705.1  rasGAP-activating-like protein 1 isoform X3

    Conserved Domains (6) summary
    cd05135
    Location:263550
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    smart00323
    Location:243605
    RasGAP; GTPase-activator protein for Ras-like GTPases
    pfam00169
    Location:567673
    PH; PH domain
    pfam00779
    Location:682709
    BTK; BTK motif
    cl14603
    Location:134255
    C2; C2 domain
    cl17171
    Location:553690
    PH-like; Pleckstrin homology-like domain
  8. XM_011538852.2XP_011537154.1  rasGAP-activating-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011537154.1

    UniProtKB/Swiss-Prot
    O95294
    Conserved Domains (6) summary
    cd05135
    Location:263550
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    smart00323
    Location:243606
    RasGAP; GTPase-activator protein for Ras-like GTPases
    pfam00169
    Location:568674
    PH; PH domain
    pfam00779
    Location:683710
    BTK; BTK motif
    cl14603
    Location:134255
    C2; C2 domain
    cl17171
    Location:554691
    PH-like; Pleckstrin homology-like domain
  9. XM_017020029.1XP_016875518.1  rasGAP-activating-like protein 1 isoform X5

  10. XM_011538854.2XP_011537156.1  rasGAP-activating-like protein 1 isoform X7

    Conserved Domains (4) summary
    pfam00169
    Location:209315
    PH; PH domain
    pfam00779
    Location:324351
    BTK; BTK motif
    cl02569
    Location:1191
    RasGAP; Ras GTPase Activating Domain
    cl17171
    Location:195332
    PH-like; Pleckstrin homology-like domain

RNA

  1. XR_001748903.1 RNA Sequence

  2. XR_001748902.1 RNA Sequence

  3. XR_002957386.1 RNA Sequence

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