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

Gene ID: 8437, updated on 3-Apr-2024

Summary

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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; AllianceGenome:HGNC:9873
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
mouse all
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Genomic context

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Location:
12q24.13
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (113099278..113136756, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (113075920..113113399, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (113537083..113574044, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113495773-113496561 Neighboring gene ribosomal protein S15a pseudogene 32 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113503073-113503631 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113504873-113505373 Neighboring gene deltex E3 ubiquitin ligase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4889 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113535297-113535838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7061 Neighboring gene MPRA-validated peak1969 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4891 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113592609-113593108 Neighboring gene MPRA-validated peak1971 silencer Neighboring gene cilia and flagella associated protein 73 Neighboring gene microRNA 7106 Neighboring gene DEAD-box helicase 54 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7063 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:113623217-113623866 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113623867-113624517 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113624518-113625167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113629297-113629950 Neighboring gene RBPJ interacting and tubulin associated 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Domain topology of human Rasal. Cuellar J, et al. Biol Chem, 2017 Dec 20. PMID 28885980
  2. Prognostic implications of RASAL1 expression in oesophagogastric adenocarcinoma. Knief J, et al. J Clin Pathol, 2017 Mar. PMID 28011578
  3. Hypoxia-induced endothelial-mesenchymal transition is associated with RASAL1 promoter hypermethylation in human coronary endothelial cells. Xu X, et al. FEBS Lett, 2016 Apr. PMID 27012941
  4. RASAL1 attenuates gastric carcinogenesis in nude mice by blocking RAS/ERK signaling. Chen H, et al. Asian Pac J Cancer Prev, 2015. PMID 25735335
  5. Germline alterations in RASAL1 in Cowden syndrome patients presenting with follicular thyroid cancer and in individuals with apparently sporadic epithelial thyroid cancer. Ngeow J, et al. J Clin Endocrinol Metab, 2014 Jul. PMID 24712574, Free PMC Article

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Domain topology of human Rasal
    Title: Domain topology of human Rasal.
  2. HIF1alpha and transforming growth factor (TGF)/SMAD signalling pathways synergistically regulate hypoxia-induced endothelial-to-mesenchymal transition through both DNMT3a-mediated hypermethylation of RASAL1 promoter and direct SNAIL induction.
    Title: Hypoxia-induced endothelial-mesenchymal transition is associated with RASAL1 promoter hypermethylation in human coronary endothelial cells.
  3. RASAL1 role in in sorafenib-resistance of liver cancer cells
    Title: Long non-coding RNA TUC338 is functionally involved in sorafenib-sensitized hepatocarcinoma cells by targeting RASAL1.
  4. our study showed significantly longer overall survival times for oesophagogastric adenocarcinoma patients without RASAL1 expression
    Title: Prognostic implications of RASAL1 expression in oesophagogastric adenocarcinoma.
  5. DNA methylation, TGFbeta1 and RASAL1 appear to have an interacting relationship.
    Title: Hypoxia-Induced Changes in DNA Methylation Alter RASAL1 and TGFβ1 Expression in Human Trabecular Meshwork Cells.
  6. Report a new subtype of high-grade mandibular osteosarcoma with RASAL1/MDM2 amplification.
    Title: A new subtype of high-grade mandibular osteosarcoma with RASAL1/MDM2 amplification.
  7. These findings suggest that Ebp1 suppressed thyroid cancer cell lines by upregulating RASRAL expression.
    Title: EBP1 suppresses growth, migration, and invasion of thyroid cancer cells through upregulating RASAL expression.
  8. large chromosome 12 rearrangement, spanning MDM2 and RASAL1, is the first recurrent molecular abnormality to be reported in juvenile ossifying fibroma
    Title: Chromosome 12 long arm rearrangement covering MDM2 and RASAL1 is associated with aggressive craniofacial juvenile ossifying fibroma and extracranial psammomatoid fibro-osseous lesions.
  9. Loss of RASAL1 expression is associated with gastric carcinogenesis.
    Title: RASAL1 attenuates gastric carcinogenesis in nude mice by blocking RAS/ERK signaling.
  10. Transcriptional suppression of RASAL1 through aberrant promoter methylation contributes to endothelial-mesenchymal transition and ultimately to progression of cardiac fibrosis.
    Title: Epigenetic balance of aberrant Rasal1 promoter methylation and hydroxymethylation regulates cardiac fibrosis.
Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables phospholipid binding TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to calcium ion IEA
Inferred from Electronic Annotation
more info
  
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of Ras protein signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of dendrite extension IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
colocalizes_with plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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

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_047089.1 RefSeqGene

    Range
    5479..41962
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001193520.2 → NP_001180449.1  rasGAP-activating-like protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001180449.1

    Status: REVIEWED

    Source sequence(s)
    AC089999
    Consensus CDS
    CCDS55889.1
    UniProtKB/TrEMBL
    B4DG06
    Related
    ENSP00000450244.1, ENST00000546530.5
    Conserved Domains (4) summary
    cd05135
    Location:263 → 550
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    pfam00779
    Location:683 → 710
    BTK; BTK motif
    cl14603
    Location:134 → 255
    C2; C2 domain
    cl17171
    Location:554 → 691
    PH-like; Pleckstrin homology-like domain

  2. NM_001193521.3 → NP_001180450.1  rasGAP-activating-like protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC089999
    Consensus CDS
    CCDS55888.1
    UniProtKB/TrEMBL
    B4DG06
    Related
    ENSP00000395920.3, ENST00000446861.7
    Conserved Domains (5) summary
    cd05135
    Location:263 → 549
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    smart00323
    Location:243 → 604
    RasGAP; GTPase-activator protein for Ras-like GTPases
    pfam00779
    Location:653 → 680
    BTK; BTK motif
    cl14603
    Location:134 → 255
    C2; C2 domain
    cl17171
    Location:552 → 661
    PH-like; Pleckstrin homology-like domain

  3. NM_001301202.2 → NP_001288131.1  rasGAP-activating-like protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC089999
    Consensus CDS
    CCDS73529.1
    UniProtKB/TrEMBL
    B4DG06
    Related
    ENSP00000448510.1, ENST00000548055.2
    Conserved Domains (4) summary
    cd05135
    Location:263 → 549
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    pfam00779
    Location:682 → 709
    BTK; BTK motif
    cl14603
    Location:134 → 255
    C2; C2 domain
    cl17171
    Location:553 → 690
    PH-like; Pleckstrin homology-like domain

  4. NM_001394081.1 → NP_001381010.1  rasGAP-activating-like protein 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC089999
    Consensus CDS
    CCDS55889.1
    UniProtKB/TrEMBL
    B4DG06
    Conserved Domains (4) summary
    cd05135
    Location:263 → 550
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    pfam00779
    Location:683 → 710
    BTK; BTK motif
    cl14603
    Location:134 → 255
    C2; C2 domain
    cl17171
    Location:554 → 691
    PH-like; Pleckstrin homology-like domain

  5. NM_001394082.1 → NP_001381011.1  rasGAP-activating-like protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC089999
    Consensus CDS
    CCDS73529.1
    UniProtKB/TrEMBL
    B4DG06
    Conserved Domains (4) summary
    cd05135
    Location:263 → 549
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    pfam00779
    Location:682 → 709
    BTK; BTK motif
    cl14603
    Location:134 → 255
    C2; C2 domain
    cl17171
    Location:553 → 690
    PH-like; Pleckstrin homology-like domain

  6. NM_001394083.1 → NP_001381012.1  rasGAP-activating-like protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC089999
    Consensus CDS
    CCDS73529.1
    UniProtKB/TrEMBL
    B4DG06
    Conserved Domains (4) summary
    cd05135
    Location:263 → 549
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    pfam00779
    Location:682 → 709
    BTK; BTK motif
    cl14603
    Location:134 → 255
    C2; C2 domain
    cl17171
    Location:553 → 690
    PH-like; Pleckstrin homology-like domain

  7. NM_001394084.1 → NP_001381013.1  rasGAP-activating-like protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC089999
    Consensus CDS
    CCDS73529.1
    UniProtKB/TrEMBL
    B4DG06
    Conserved Domains (4) summary
    cd05135
    Location:263 → 549
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    pfam00779
    Location:682 → 709
    BTK; BTK motif
    cl14603
    Location:134 → 255
    C2; C2 domain
    cl17171
    Location:553 → 690
    PH-like; Pleckstrin homology-like domain

  8. NM_001394085.1 → NP_001381014.1  rasGAP-activating-like protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC089999
    Consensus CDS
    CCDS9165.1
    UniProtKB/Swiss-Prot
    B7ZKM4, C9JFK5, F8VQX1, O95294, Q52M03, Q59H24, Q96CC7
    UniProtKB/TrEMBL
    B4DG06
    Conserved Domains (4) summary
    cd05135
    Location:263 → 549
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    pfam00779
    Location:681 → 708
    BTK; BTK motif
    cl14603
    Location:134 → 255
    C2; C2 domain
    cl17171
    Location:552 → 689
    PH-like; Pleckstrin homology-like domain

  9. NM_001394086.1 → NP_001381015.1  rasGAP-activating-like protein 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC089999
    UniProtKB/TrEMBL
    B4DG06
    Conserved Domains (3) summary
    cd05135
    Location:263 → 549
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    cl14603
    Location:134 → 255
    C2; C2 domain
    cl17171
    Location:553 → 662
    PH-like; Pleckstrin homology-like domain

  10. NM_001394087.1 → NP_001381016.1  rasGAP-activating-like protein 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC089999
    UniProtKB/TrEMBL
    B4DG06
    Conserved Domains (3) summary
    cd05135
    Location:199 → 486
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    cl14603
    Location:80 → 191
    C2; C2 domain
    cl17171
    Location:490 → 627
    PH-like; Pleckstrin homology-like domain

  11. NM_001394088.1 → NP_001381017.1  rasGAP-activating-like protein 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC089999
    Conserved Domains (3) summary
    cd05135
    Location:142 → 428
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    cl14603
    Location:7 → 134
    C2; C2 domain
    cl17171
    Location:432 → 569
    PH-like; Pleckstrin homology-like domain

  12. NM_001394089.1 → NP_001381018.1  rasGAP-activating-like protein 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC089999
    Conserved Domains (2) summary
    cd05135
    Location:41 → 327
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    cl17171
    Location:331 → 468
    PH-like; Pleckstrin homology-like domain

  13. NM_004658.3 → NP_004649.2  rasGAP-activating-like protein 1 isoform 2

    See identical proteins and their annotated locations for NP_004649.2

    Status: REVIEWED

    Source sequence(s)
    AC089999
    Consensus CDS
    CCDS9165.1
    UniProtKB/Swiss-Prot
    B7ZKM4, C9JFK5, F8VQX1, O95294, Q52M03, Q59H24, Q96CC7
    UniProtKB/TrEMBL
    B4DG06
    Related
    ENSP00000261729.5, ENST00000261729.9
    Conserved Domains (4) summary
    cd05135
    Location:263 → 549
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    pfam00779
    Location:681 → 708
    BTK; BTK motif
    cl14603
    Location:134 → 255
    C2; C2 domain
    cl17171
    Location:552 → 689
    PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    113099278..113136756 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047429676.1 → XP_047285632.1  rasGAP-activating-like protein 1 isoform X1

  2. XM_005253950.5 → XP_005254007.1  rasGAP-activating-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005254007.1

    UniProtKB/TrEMBL
    B4DG06
    Conserved Domains (4) summary
    cd05135
    Location:263 → 550
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    pfam00779
    Location:683 → 710
    BTK; BTK motif
    cl14603
    Location:134 → 255
    C2; C2 domain
    cl17171
    Location:554 → 691
    PH-like; Pleckstrin homology-like domain

  3. XM_006719641.4 → XP_006719704.1  rasGAP-activating-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006719704.1

    UniProtKB/TrEMBL
    B4DG06
    Conserved Domains (4) summary
    cd05135
    Location:263 → 550
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    pfam00779
    Location:683 → 710
    BTK; BTK motif
    cl14603
    Location:134 → 255
    C2; C2 domain
    cl17171
    Location:554 → 691
    PH-like; Pleckstrin homology-like domain

  4. XM_006719642.4 → XP_006719705.1  rasGAP-activating-like protein 1 isoform X2

    UniProtKB/TrEMBL
    B4DG06
    Conserved Domains (6) summary
    cd05135
    Location:263 → 550
    RasGAP_RASAL; Ras-GTPase Activating Domain of RASAL1 and similar proteins
    smart00323
    Location:243 → 605
    RasGAP; GTPase-activator protein for Ras-like GTPases
    pfam00169
    Location:567 → 673
    PH; PH domain
    pfam00779
    Location:682 → 709
    BTK; BTK motif
    cl14603
    Location:134 → 255
    C2; C2 domain
    cl17171
    Location:553 → 690
    PH-like; Pleckstrin homology-like domain

  5. XM_047429677.1 → XP_047285633.1  rasGAP-activating-like protein 1 isoform X3

  6. XM_011538854.3 → XP_011537156.1  rasGAP-activating-like protein 1 isoform X6

    Conserved Domains (4) summary
    pfam00169
    Location:209 → 315
    PH; PH domain
    pfam00779
    Location:324 → 351
    BTK; BTK motif
    cl02569
    Location:1 → 191
    RasGAP; Ras GTPase Activating Domain
    cl17171
    Location:195 → 332
    PH-like; Pleckstrin homology-like domain

  7. XM_047429679.1 → XP_047285635.1  rasGAP-activating-like protein 1 isoform X5

  8. XM_047429678.1 → XP_047285634.1  rasGAP-activating-like protein 1 isoform X4

RNA

  1. XR_007063139.1 RNA Sequence

    Related
    ENST00000418411.6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    113075920..113113399 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054373491.1 → XP_054229466.1  rasGAP-activating-like protein 1 isoform X1

  2. XM_054373489.1 → XP_054229464.1  rasGAP-activating-like protein 1 isoform X1

  3. XM_054373490.1 → XP_054229465.1  rasGAP-activating-like protein 1 isoform X1

  4. XM_054373492.1 → XP_054229467.1  rasGAP-activating-like protein 1 isoform X2

  5. XM_054373493.1 → XP_054229468.1  rasGAP-activating-like protein 1 isoform X3

  6. XM_054373496.1 → XP_054229471.1  rasGAP-activating-like protein 1 isoform X6

  7. XM_054373495.1 → XP_054229470.1  rasGAP-activating-like protein 1 isoform X5

  8. XM_054373494.1 → XP_054229469.1  rasGAP-activating-like protein 1 isoform X4

RNA

  1. XR_008488702.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95294.3 GenPept UniProtKB/Swiss-Prot:O95294

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