Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8437
Gene name Gene Name - the full gene name approved by the HGNC.	RAS protein activator like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RASAL1
Synonyms (NCBI Gene) Gene synonyms aliases	RASAL
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q24.13
Summary Summary of gene provided in NCBI Entrez 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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs142556970	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT039442	hsa-miR-421	CLASH	23622248
MIRT1291986	hsa-miR-3174	CLIP-seq
MIRT1291987	hsa-miR-4786-5p	CLIP-seq
MIRT1291988	hsa-miR-769-5p	CLIP-seq
MIRT1291989	hsa-miR-921	CLIP-seq
MIRT1291990	hsa-miR-1246	CLIP-seq
MIRT1291991	hsa-miR-1266	CLIP-seq
MIRT1291992	hsa-miR-198	CLIP-seq
MIRT1291993	hsa-miR-3127-5p	CLIP-seq
MIRT1291994	hsa-miR-3176	CLIP-seq
MIRT1291995	hsa-miR-3189-3p	CLIP-seq
MIRT1291996	hsa-miR-3689a-3p	CLIP-seq
MIRT1291997	hsa-miR-3689c	CLIP-seq
MIRT1291998	hsa-miR-3918	CLIP-seq
MIRT1291999	hsa-miR-3922-3p	CLIP-seq
MIRT1292000	hsa-miR-4420	CLIP-seq
MIRT1292001	hsa-miR-4518	CLIP-seq
MIRT1292002	hsa-miR-4640-5p	CLIP-seq
MIRT1292003	hsa-miR-4726-5p	CLIP-seq
MIRT1292004	hsa-miR-4728-5p	CLIP-seq
MIRT1292005	hsa-miR-4755-3p	CLIP-seq
MIRT1292006	hsa-miR-4757-5p	CLIP-seq
MIRT2086836	hsa-miR-4276	CLIP-seq
MIRT2311734	hsa-miR-1184	CLIP-seq
MIRT2311735	hsa-miR-1285	CLIP-seq
MIRT2311736	hsa-miR-217	CLIP-seq
MIRT2311737	hsa-miR-3187-5p	CLIP-seq
MIRT2311738	hsa-miR-4252	CLIP-seq
MIRT2311739	hsa-miR-4418	CLIP-seq
MIRT2311740	hsa-miR-4797-5p	CLIP-seq
MIRT2311741	hsa-miR-509-3-5p	CLIP-seq
MIRT2311742	hsa-miR-509-5p	CLIP-seq
MIRT2311743	hsa-miR-612	CLIP-seq
MIRT2311744	hsa-miR-661	CLIP-seq
MIRT2311745	hsa-miR-759	CLIP-seq
MIRT2457772	hsa-miR-3163	CLIP-seq
MIRT2457773	hsa-miR-4282	CLIP-seq
MIRT2457774	hsa-miR-4641	CLIP-seq
MIRT2608180	hsa-miR-1283	CLIP-seq
MIRT2608181	hsa-miR-149	CLIP-seq
MIRT2608182	hsa-miR-3667-3p	CLIP-seq
MIRT2608183	hsa-miR-3675-3p	CLIP-seq
MIRT2608184	hsa-miR-4268	CLIP-seq
MIRT2457773	hsa-miR-4282	CLIP-seq
MIRT2608185	hsa-miR-4448	CLIP-seq
MIRT2608186	hsa-miR-4497	CLIP-seq
MIRT2608187	hsa-miR-4684-5p	CLIP-seq
MIRT2608188	hsa-miR-760	CLIP-seq
MIRT2608180	hsa-miR-1283	CLIP-seq
MIRT2608181	hsa-miR-149	CLIP-seq
MIRT2608182	hsa-miR-3667-3p	CLIP-seq
MIRT2608183	hsa-miR-3675-3p	CLIP-seq
MIRT2608184	hsa-miR-4268	CLIP-seq
MIRT2457773	hsa-miR-4282	CLIP-seq
MIRT2608185	hsa-miR-4448	CLIP-seq
MIRT2608186	hsa-miR-4497	CLIP-seq
MIRT2608187	hsa-miR-4684-5p	CLIP-seq
MIRT2689356	hsa-miR-548c-3p	CLIP-seq
MIRT2608188	hsa-miR-760	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	TAS	9751798
GO:0005543	Function	Phospholipid binding	TAS	9751798
GO:0005829	Component	Cytosol	IDA	16009725
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	16009725
GO:0007165	Process	Signal transduction	TAS	9751798
GO:0008270	Function	Zinc ion binding	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0046580	Process	Negative regulation of Ras protein signal transduction	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0071277	Process	Cellular response to calcium ion	IEA
GO:1902531	Process	Regulation of intracellular signal transduction	IBA
GO:1903861	Process	Positive regulation of dendrite extension	IDA	23999003

MIM	HGNC	e!Ensembl
604118	9873	ENSG00000111344

Protein

UniProt ID

O95294

Protein name

RasGAP-activating-like protein 1 (RAS protein activator like 1) (Ras GTPase-activating-like protein)

Protein function

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00168	C2	5 → 107	C2 domain	Domain
PF00168	C2	133 → 233	C2 domain	Domain
PF00616	RasGAP	322 → 511	GTPase-activator protein for Ras-like GTPase	Family
PF00169	PH	566 → 672	PH domain	Domain
PF00779	BTK	680 → 709	BTK motif	Motif

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in thyroid and adrenal medulla, lower expression in brain, spinal cord and trachea (PubMed:9751798). Expressed in melanocytes (PubMed:23999003). {ECO:0000269|PubMed:23999003, ECO:0000269|PubMed:9751798}.

Sequence

MAKSSSLNVRVVEGRALPAKDVSGSSDPYCLVKVDDEVVARTATVWRSLGPFWGEEYTVH
LPLDFHQLAFYVLDEDTVGHDDIIGKISLSREAITADPRGIDSWINLSRVDPDAEVQGEI
CLSVQMLEDGQGRCLRCHVLQARDLAPRDISGTSDPFARVFWGSQSLETSTIKKTRFPHW
DEVLELREMPGAPSPLRVELWDWDMVGKNDFLGMVEFSPKTLQQKPPKGWFRLLPFPRAE
EDSGGNLGALRVKVRLIEDRVLPSQCYQPLMELLMESVQGPAEEDTASPLALLEELTLGD
CRQDLATKLVKLFLGRGLAGRFLDYLTRREVARTMDPNTLFRSNSLASKSMEQFMKLVGM
PYLHEVLKPVISRVFEEKKYMELDPCKMDLGRTRRISFKGALSEEQMRETSLGLLTGYLG
PIVDAIVGSVGRCPPAMRLAFKQLHRRVEERFPQAEHQDVKYLAISGFLFLRFFAPAILT
PKLFDLRDQHADPQTSRSLLLLAKAVQSIGNLGQQLGQGKELWMAPLHPFLLQCVSRVRD
FLDRLVDVDGDEAGVPARALFPPSAIVREGYLLKRKEEPAGLATRFAFKKRYVWLSGETL
SFSKSPEWQMCHSIPVSHIRAVERVDEGAFQLPHVMQVVTQDGTGALHTTYLQCKNVNEL
NQWLSALRKASAPNPNKLAACHPGAFRSARWTCCLQAERSAAGCSRTHSAVTLGDWSDPL
DPDAEAQTVYRQLLLGRDQLRLKLLEDSNMDTTLEADTGACPEVLARQRAATARLLEVLA
DLDRAHEEFQQQERGKAALGPLGP

Sequence length

804

Interactions

View interactions

	KEGG		Reactome
	Ras signaling pathway		Regulation of RAS by GAPs

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast Cancer	breast cancer	N/A	N/A	GenCC

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Bankart Lesions	Associate	24925056
Breast Neoplasms	Associate	29779034
Carcinogenesis	Associate	17640920, 24377515, 24712574
Carcinoma Hepatocellular	Associate	21067840
Fibroma Ossifying	Associate	24925056
Fibrosis	Associate	27012941
Fibrous Dysplasia of Bone	Associate	24925056
Hamartoma Syndrome Multiple	Associate	24712574
Hypoxia	Associate	27012941, 27124111
Leukemia	Associate	29518763
Meningioma	Associate	29518763
Mesothelioma	Associate	29518763
Neoplasms	Inhibit	17640920
Neoplasms	Associate	22140553, 29975213, 37149929
Stomach Neoplasms	Inhibit	24377515
Thyroid cancer follicular	Associate	24712574
Thyroid cancer medullary	Associate	29518763
Thyroid Cancer Papillary	Associate	24712574
Thyroid Carcinoma Anaplastic	Associate	24712574
Thyroid Neoplasms	Associate	24712574, 26008146
Urinary Bladder Neoplasms	Associate	22140553

RASAL1 (RAS protein activator like 1)