Free for academic non-profit institutions. Other users need a Commercial license

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 Immune System. 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).

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

Genomics for RASAL1 Gene

Regulatory Elements for RASAL1 Gene

Enhancers for RASAL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F113202 1.7 FANTOM5 Ensembl ENCODE 12.4 -71.1 -71062 9.8 HDGF PKNOX1 ARNT CREB3L1 ZNF766 CBX5 ZNF207 KLF13 NFYC JUNB RITA1 RBM19 RASAL1 GC12M113206 GC12M113220 PIR32722
GH12F113270 1.5 FANTOM5 Ensembl ENCODE 13.2 -135.8 -135800 2.3 ELF3 ARID4B DMAP1 ZNF48 ZSCAN9 RAD21 EGR2 CEBPB REST NR2F2 SDSL RASAL1 RITA1 SLC8B1 OAS2 OAS3 OAS1 PLBD2 SDS GC12M113256
GH12F113220 1.4 FANTOM5 ENCODE 13.2 -86.1 -86119 4.2 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS RITA1 ENSG00000257603 GLULP5 ENSG00000257997 RASAL1 DDX54 ENSG00000201208 RBM19 TPCN1 IQCD
GH12F113235 1.3 Ensembl ENCODE 13.3 -106.2 -106157 13.4 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 ZNF2 YY1 FOS ZNF263 RITA1 RASAL1 IQCD TPCN1 DDX54 ENSG00000201208 PLBD2 ENSG00000277566
GH12F113134 0.9 ENCODE 18.5 +0.2 224 2.9 ATF1 PKNOX1 ZFP64 GLIS2 EGR1 SCRT2 CREM EGR2 SP3 CEBPB RASAL1 GC12P113070
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RASAL1 on UCSC Golden Path with GeneCards custom track

Promoters for RASAL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001781270 539 601 CTCF KLF1 ATF1 PKNOX1 ZFP64 HIC1 ZFHX2 GLIS2 POLR2A PATZ1

Genomic Location for RASAL1 Gene

Chromosome:
12
Start:
113,098,819 bp from pter
End:
113,136,239 bp from pter
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
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAD92172.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; 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

No data available for DME Specific Peptides for RASAL1 Gene

Domains & Families for RASAL1 Gene

Suggested Antigen Peptide Sequences for RASAL1 Gene

Graphical View of Domain Structure for InterPro Entry

O95294

UniProtKB/Swiss-Prot:

RASL1_HUMAN :
  • Contains 2 C2 domains.
  • Contains 1 Btk-type zinc finger.
Domain:
  • Contains 2 C2 domains.
  • Contains 1 PH domain.
  • Contains 1 Ras-GAP domain.
Similarity:
  • Contains 1 Btk-type zinc finger.
genes like me logo Genes that share domains with RASAL1: view

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 IEA --
GO:0005543 phospholipid binding TAS 9751798
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

miRNA for RASAL1 Gene

miRTarBase miRNAs that target RASAL1

Flow Cytometry Products

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 4
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for RASAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA,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
.45
5 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 IEA,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

Transcripts for RASAL1 Gene

Unigene Clusters for RASAL1 Gene

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

Flow Cytometry 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: - - -
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
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for RASAL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of RASAL1 Gene:

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).
genes like me logo Genes that share expression patterns with RASAL1: view

No data available for Protein tissue co-expression partners 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 34 35
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia RASAL1 34 35
  • 88.92 (n)
cow
(Bos Taurus)
Mammalia RASAL1 34 35
  • 88.49 (n)
mouse
(Mus musculus)
Mammalia Rasal1 34 16 35
  • 84.81 (n)
rat
(Rattus norvegicus)
Mammalia Rasal1 34
  • 84.39 (n)
oppossum
(Monodelphis domestica)
Mammalia RASAL1 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 65 (a)
OneToMany
-- 35
  • 62 (a)
OneToMany
chicken
(Gallus gallus)
Aves RASAL1 34 35
  • 71.09 (n)
lizard
(Anolis carolinensis)
Reptilia RASAL1 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rasal1 34
  • 65.4 (n)
zebrafish
(Danio rerio)
Actinopterygii CU694486.1 35
  • 62 (a)
OneToMany
RASAL1 (2 of 2) 35
  • 59 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Gap1 35
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gap-1 35
  • 25 (a)
OneToMany
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

ENSEMBL:
Gene Tree for RASAL1 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs142556970 Likely benign 113,105,737(+) GGAGA(A/G)GGAGA nc-transcript-variant, reference, missense
rs10161235 -- 113,101,759(+) CACCC(C/T)GGGCC intron-variant
rs10507237 -- 113,100,228(+) TGGAC(C/T)GGAAA intron-variant
rs10603536 -- 113,109,044(+) TTTTT(-/TT)AGTAG intron-variant
rs11066493 -- 113,109,521(+) GGTGA(A/C)TCAGG intron-variant

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

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

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)

Relevant External Links 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

Disorder Aliases PubMed IDs
ossifying fibroma
  • fibro-osteoma
juvenile ossifying fibroma
bone benign neoplasm
connective tissue benign neoplasm
  • neoplasm of soft tissue
hypochondriasis
  • hypochondria
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RASAL1

Genetic Association Database (GAD)
RASAL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 64
  2. SYT14L, especially its C2 domain, is involved in regulating melanocyte differentiation. (PMID: 23999003) Yoo J.C. … Yoon T.J. (J. Dermatol. Sci. 2013) 3 4 64
  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 64
  4. A genetic screen identifies PITX1 as a suppressor of RAS activity and tumorigenicity. (PMID: 15960973) Kolfschoten I.G. … Agami R. (Cell 2005) 3 22 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for RASAL1 Gene

Sources for RASAL1 Gene

Content
Loading form....