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 ... See more...

Aliases for RASAL1 Gene

Aliases for RASAL1 Gene

  • RAS Protein Activator Like 1 2 3 4 5
  • RASAL 2 3 4
  • Ras GTPase-Activating-Like Protein 3 4
  • RasGAP-Activating-Like Protein 1 3 4
  • RAS Protein Activator Like 1 (GAP1 Like) 2
  • GAP1 Like Protein 3
  • RASAL1 5

External Ids for RASAL1 Gene

Previous GeneCards Identifiers for RASAL1 Gene

  • GC12M112432
  • GC12M113056
  • GC12M113319
  • GC12M111949
  • GC12M112000
  • GC12M112021
  • GC12M113537
  • GC12M110549

Summaries for RASAL1 Gene

Entrez Gene Summary for RASAL1 Gene

  • 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]

GeneCards Summary for RASAL1 Gene

RASAL1 (RAS Protein Activator Like 1) is a Protein Coding gene. Diseases associated with RASAL1 include Ossifying Fibroma and Juvenile Ossifying Fibroma. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and phospholipid binding. An important paralog of this gene is RASA4.

UniProtKB/Swiss-Prot Summary for RASAL1 Gene

  • Probable inhibitory regulator of the Ras-cyclic AMP pathway (PubMed:9751798). Plays a role in dendrite formation by melanocytes (PubMed:23999003).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RASAL1 Gene

Genomics for RASAL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RASAL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J113134 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 618.4 +0.3 322 3.1 SP1 CREB1 CTCF PRDM10 ZNF629 LEF1 KDM1A TARDBP ZIC2 PATZ1 RASAL1 lnc-DDX54-2 DTX1
GH12J113220 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.2 -86.1 -86110 4.2 SP1 CREB1 GATAD2A HNRNPL RFX1 IKZF1 KDM1A ZNF692 POLR2A BACH1 TPCN1 IQCD RITA1 RBM19 RASAL1 PTPN11 DDX54 ENSG00000201208 RF00017-1284 lnc-TPCN1-2
GH12J113235 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.3 -106.1 -106148 13.4 HNRNPL CREB1 PRDM10 ZNF629 REST IKZF1 TARDBP ZHX2 JUND FOXA1 RITA1 RASAL1 TPCN1 IQCD DDX54 ENSG00000201208 PLBD2 ENSG00000277566 RF00017-1284 lnc-TPCN1-2
GH12J113149 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.5 -13.5 -13510 1.1 TEAD4 RFX1 KDM1A ZIC2 RFX3 EGR1 BMI1 MAZ ZFHX2 SIN3A CFAP73 RASAL1 ENSG00000201208 RITA1 DDX54 lnc-RITA1-1
GH12J113270 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 13.2 -135.8 -135790 2.3 CEBPG GATAD2A REST TFE3 IKZF1 JUND SP1 CEBPA CEBPB EGR1 SDSL RASAL1 RITA1 SLC8B1 RBM19 OAS2 OAS3 OAS1 PLBD2 SDS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RASAL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RASAL1

Top Transcription factor binding sites by QIAGEN in the RASAL1 gene promoter:
  • AP-2gamma
  • E47
  • Lmo2
  • NF-1
  • NF-1/L
  • Tal-1beta

Genomic Locations for RASAL1 Gene

Genomic Locations for RASAL1 Gene
chr12:113,096,515-113,136,248
(GRCh38/hg38)
Size:
39,734 bases
Orientation:
Minus strand
chr12:113,536,624-113,574,044
(GRCh37/hg19)
Size:
37,421 bases
Orientation:
Minus strand

Genomic View for RASAL1 Gene

Genes around RASAL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RASAL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RASAL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RASAL1 Gene

Proteins for RASAL1 Gene

  • Protein details for RASAL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95294-RASL1_HUMAN
    Recommended name:
    RasGAP-activating-like protein 1
    Protein Accession:
    O95294
    Secondary Accessions:
    • B7ZKM4
    • C9JFK5
    • F8VQX1
    • Q52M03
    • Q59H24
    • Q96CC7

    Protein attributes for RASAL1 Gene

    Size:
    804 amino acids
    Molecular mass:
    90016 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAD92172.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for RASAL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RASAL1 Gene

Post-translational modifications for RASAL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for RASAL1
  • Boster Bio Antibodies for RASAL1
  • Santa Cruz Biotechnology (SCBT) Antibodies for RASAL1

No data available for DME Specific Peptides for RASAL1 Gene

Domains & Families for RASAL1 Gene

Gene Families for RASAL1 Gene

Protein Domains for RASAL1 Gene

InterPro:
Blocks:
  • C2 domain
  • Pleckstrin-like
  • Tec/Btk domain signature
  • Ras GTPase-activating protein
ProtoNet:

Suggested Antigen Peptide Sequences for RASAL1 Gene

GenScript: Design optimal peptide antigens:
  • RASAL1 protein (B7ZKM4_HUMAN)
  • RasGAP-activating-like protein 1 (RASL1_HUMAN)
genes like me logo Genes that share domains with RASAL1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RASAL1 Gene

Function for RASAL1 Gene

Molecular function for RASAL1 Gene

UniProtKB/Swiss-Prot Function:
Probable inhibitory regulator of the Ras-cyclic AMP pathway (PubMed:9751798). Plays a role in dendrite formation by melanocytes (PubMed:23999003).
GENATLAS Biochemistry:
RAS GTPase-activating-like 1,highly expressed in the follicular cells of the thyroid and adrenal medulla

Phenotypes From GWAS Catalog for RASAL1 Gene

Gene Ontology (GO) - Molecular Function for RASAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity TAS,IEA --
GO:0005543 phospholipid binding TAS,IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RASAL1: view
genes like me logo Genes that share phenotypes with RASAL1: view

Animal Model Products

CRISPR Products

miRNA for RASAL1 Gene

miRTarBase miRNAs that target RASAL1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RASAL1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RASAL1 Gene

Localization for RASAL1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RASAL1 gene
Compartment Confidence
cytosol 5
plasma membrane 3
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RASAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 colocalizes_with plasma membrane IDA 16009725
genes like me logo Genes that share ontologies with RASAL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RASAL1 Gene

Pathways & Interactions for RASAL1 Gene

PathCards logo

SuperPathways for RASAL1 Gene

SuperPathway Contained pathways
1 RET signaling
2 Developmental Biology
3 Cytokine Signaling in Immune system
4 HIV Life Cycle
.45
5 Innate Immune System
genes like me logo Genes that share pathways with RASAL1: view

Pathways by source for RASAL1 Gene

Gene Ontology (GO) - Biological Process for RASAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0007165 signal transduction TAS 9751798
GO:0030154 cell differentiation IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0043087 regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with RASAL1: view

No data available for SIGNOR curated interactions for RASAL1 Gene

Drugs & Compounds for RASAL1 Gene

No Compound Related Data Available

Transcripts for RASAL1 Gene

mRNA/cDNA for RASAL1 Gene

4 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RASAL1

Alternative Splicing Database (ASD) splice patterns (SP) for RASAL1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^
SP1: - - - - -
SP2: - - -
SP3:
SP4:
SP5: - - - - - - - -
SP6:

ExUns: 20 ^ 21 ^ 22 ^ 23a · 23b · 23c
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:

Relevant External Links for RASAL1 Gene

GeneLoc Exon Structure for
RASAL1

Expression for RASAL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RASAL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RASAL1 Gene

This gene is overexpressed in Esophagus - Mucosa (x5.8).

Protein differential expression in normal tissues from HIPED for RASAL1 Gene

This gene is overexpressed in Salivary gland (14.9), Brain (14.8), Cervix (11.6), and Stomach (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RASAL1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RASAL1

SOURCE GeneReport for Unigene cluster for RASAL1 Gene:

Hs.528693

mRNA Expression by UniProt/SwissProt for RASAL1 Gene:

O95294-RASL1_HUMAN
Tissue specificity: Highly expressed in thyroid and adrenal medulla, lower expression in brain, spinal cord and trachea (PubMed:9751798). Expressed in melanocytes (PubMed:23999003).

Evidence on tissue expression from TISSUES for RASAL1 Gene

  • Nervous system(4.4)
  • Lung(4.3)
  • Kidney(2.4)
  • Thyroid gland(2.2)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with RASAL1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RASAL1 Gene

Orthologs for RASAL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RASAL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RASAL1 30 31
  • 99.48 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RASAL1 30 31
  • 88.92 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RASAL1 30 31
  • 88.49 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rasal1 30 17 31
  • 84.81 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rasal1 30
  • 84.39 (n)
Oppossum
(Monodelphis domestica)
Mammalia RASAL1 31
  • 71 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 65 (a)
OneToMany
-- 31
  • 62 (a)
OneToMany
Chicken
(Gallus gallus)
Aves RASAL1 30 31
  • 71.09 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RASAL1 31
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rasal1 30
  • 65.4 (n)
Zebrafish
(Danio rerio)
Actinopterygii CU694486.1 31
  • 62 (a)
OneToMany
RASAL1 (2 of 2) 31
  • 59 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Gap1 31
  • 20 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea gap-1 31
  • 25 (a)
OneToMany
Species where no ortholog for RASAL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RASAL1 Gene

ENSEMBL:
Gene Tree for RASAL1 (if available)
TreeFam:
Gene Tree for RASAL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RASAL1: view image

Paralogs for RASAL1 Gene

(3) SIMAP similar genes for RASAL1 Gene using alignment to 1 proteins:

  • RASL1_HUMAN
genes like me logo Genes that share paralogs with RASAL1: view

Variants for RASAL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RASAL1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
712123 Benign: not provided 113,114,889(-) G/A SYNONYMOUS_VARIANT
714323 Benign: not provided 113,102,008(-) G/A SYNONYMOUS_VARIANT
714572 Likely Benign: not provided 113,101,882(-) C/T INTRON_VARIANT
738439 Likely Benign: not provided 113,108,210(-) G/A SYNONYMOUS_VARIANT
738440 Likely Benign: not provided 113,121,595(-) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for RASAL1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RASAL1 Gene

Variant ID Type Subtype PubMed ID
dgv2884n54 CNV loss 21841781
esv3630792 CNV gain 21293372
esv3892265 CNV gain 25118596
nsv519540 CNV gain+loss 19592680
nsv560264 CNV loss 21841781
nsv560265 CNV loss 21841781
nsv560266 CNV loss 21841781
nsv952481 CNV deletion 24416366

Variation tolerance for RASAL1 Gene

Residual Variation Intolerance Score: 74.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.56; 64.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RASAL1 Gene

Human Gene Mutation Database (HGMD)
RASAL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RASAL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RASAL1 Gene

Disorders for RASAL1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for RASAL1 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RASAL1

genes like me logo Genes that share disorders with RASAL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RASAL1 Gene

Publications for RASAL1 Gene

  1. Restricted tissue expression pattern of a novel human rasGAP-related gene and its murine ortholog. (PMID: 9751798) Allen M … Buckler A (Gene 1998) 2 3 4 23
  2. SYT14L, especially its C2 domain, is involved in regulating melanocyte differentiation. (PMID: 23999003) Yoo JC … Yoon TJ (Journal of dermatological science 2013) 3 4
  3. Decreased expression of the RAS-GTPase activating protein RASAL1 is associated with colorectal tumor progression. (PMID: 18992247) Ohta M … Omata M (Gastroenterology 2009) 3 23
  4. A genetic screen identifies PITX1 as a suppressor of RAS activity and tumorigenicity. (PMID: 15960973) Kolfschoten IG … Agami R (Cell 2005) 3 23
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for RASAL1 Gene

  • Signalway Proteins for RASAL1

Sources for RASAL1 Gene