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Aliases for RASAL1 Gene

Aliases for RASAL1 Gene

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

External Ids for RASAL1 Gene

Previous GeneCards Identifiers for RASAL1 Gene

  • GC12M112432
  • 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 Cytokine Signaling in Immune system. 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 for RASAL1 Gene

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

Additional gene information for RASAL1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RASAL1 Gene

Genomics for RASAL1 Gene

GeneHancer (GH) Regulatory Elements for RASAL1 Gene

Promoters and enhancers for RASAL1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I113134 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 568.5 +0.2 223 2.9 PKNOX1 CLOCK ATF1 ZFP64 SIN3A GLIS2 ZNF143 ATF7 SP3 MAFF RASAL1 GC12P113070
GH12I113220 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.2 -86.1 -86119 4.2 HDGF PKNOX1 CLOCK FOXA2 ARNT ZFP64 ARID4B NEUROD1 SIN3A DMAP1 TPCN1 IQCD RITA1 RASAL1 DDX54 ENSG00000201208 RBM19 ENSG00000277566
GH12I113149 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 16.4 -13.5 -13526 1.1 MXI1 KLF1 MAZ RFX1 KLF17 SIN3A BMI1 ZIC2 TEAD3 ZFHX2 CFAP73 RASAL1 ENSG00000201208 DDX54 RITA1 ENSG00000199899 GC12M113158
GH12I113270 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 13.2 -135.8 -135799 2.3 ELF3 ARID4B SIN3A DMAP1 ZNF48 ZSCAN9 RAD21 EGR1 EGR2 CEBPB GC12M113256 SDSL RASAL1 RITA1 SLC8B1 RBM19 OAS2 OAS3 OAS1 PLBD2
GH12I113235 Enhancer 1.4 Ensembl ENCODE dbSUPER 13.3 -106.2 -106157 13.4 HDGF PKNOX1 FOXA2 ARNT ARID4B NEUROD1 SIN3A FEZF1 ZNF2 YY1 RITA1 RASAL1 IQCD TPCN1 DDX54 ENSG00000201208 PLBD2 ENSG00000277566
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RASAL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RASAL1 gene promoter:

Genomic Locations for RASAL1 Gene

Genomic Locations for RASAL1 Gene
37,421 bases
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:
    Recommended name:
    RasGAP-activating-like protein 1
    Protein Accession:
    Secondary Accessions:
    • B7ZKM4
    • C9JFK5
    • F8VQX1
    • Q52M03
    • Q59H24
    • Q96CC7

    Protein attributes for RASAL1 Gene

    804 amino acids
    Molecular mass:
    90016 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAD92172.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for RASAL1 Gene


neXtProt entry for RASAL1 Gene

Post-translational modifications for RASAL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RASAL1 Gene

Domains & Families for RASAL1 Gene

Gene Families for RASAL1 Gene

Suggested Antigen Peptide Sequences for RASAL1 Gene

Graphical View of Domain Structure for InterPro Entry

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

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

Function for RASAL1 Gene

Molecular function for RASAL1 Gene

GENATLAS Biochemistry:
RAS GTPase-activating-like 1,highly expressed in the follicular cells of the thyroid and adrenal medulla
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).

Gene Ontology (GO) - Molecular Function for RASAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA,TAS --
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

Clone Products

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

Localization for RASAL1 Gene

Subcellular locations from

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 4
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

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
GO:0031235 intrinsic component of the cytoplasmic side of the plasma membrane IBA --
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

SuperPathways for RASAL1 Gene

SuperPathway Contained pathways
1 RET signaling
2 Developmental Biology
3 Cytokine Signaling in Immune system
4 HIV Life Cycle
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

Unigene Clusters for RASAL1 Gene

RAS protein activator like 1 (GAP1 like):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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: - - -
SP5: - - - - - - - -

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

Relevant External Links for RASAL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RASAL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for RASAL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RASAL1 Gene:


SOURCE GeneReport for Unigene cluster for RASAL1 Gene:


mRNA Expression by UniProt/SwissProt for RASAL1 Gene:

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(4.2)
  • Lung(4.1)
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
(Pan troglodytes)
Mammalia RASAL1 33 34
  • 99.48 (n)
(Canis familiaris)
Mammalia RASAL1 33 34
  • 88.92 (n)
(Bos Taurus)
Mammalia RASAL1 33 34
  • 88.49 (n)
(Mus musculus)
Mammalia Rasal1 33 16 34
  • 84.81 (n)
(Rattus norvegicus)
Mammalia Rasal1 33
  • 84.39 (n)
(Monodelphis domestica)
Mammalia RASAL1 34
  • 71 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 65 (a)
-- 34
  • 62 (a)
(Gallus gallus)
Aves RASAL1 33 34
  • 71.09 (n)
(Anolis carolinensis)
Reptilia RASAL1 34
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rasal1 33
  • 65.4 (n)
(Danio rerio)
Actinopterygii CU694486.1 34
  • 62 (a)
RASAL1 (2 of 2) 34
  • 59 (a)
fruit fly
(Drosophila melanogaster)
Insecta Gap1 34
  • 20 (a)
(Caenorhabditis elegans)
Secernentea gap-1 34
  • 25 (a)
Species where no ortholog for RASAL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

Gene Tree for RASAL1 (if available)
Gene Tree for RASAL1 (if available)

Paralogs for RASAL1 Gene

Paralogs for RASAL1 Gene

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

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

Variants for RASAL1 Gene

Sequence variations from dbSNP and Humsavar for RASAL1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs142556970 likely-benign, not specified 113,105,737(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000058377 -- 113,099,108(-) C/T 3_prime_UTR_variant, non_coding_transcript_variant
rs1000211869 -- 113,116,376(-) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000216578 -- 113,132,857(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000363628 -- 113,120,348(-) C/A genic_upstream_transcript_variant, intron_variant

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ossifying fibroma
  • fibro-osteoma
juvenile ossifying fibroma
bone benign neoplasm
  • hypochondria
connective tissue benign neoplasm
  • neoplasm of soft tissue
- 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 22 58
  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 58
  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 22 58
  4. A genetic screen identifies PITX1 as a suppressor of RAS activity and tumorigenicity. (PMID: 15960973) Kolfschoten IG … Agami R (Cell 2005) 3 22 58
  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 58

Products for RASAL1 Gene

Sources for RASAL1 Gene

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