RASAL1 (RAS protein activator like 1)

Gene

• Entrez ID: 8437
• Gene name: RAS protein activator like 1
• Gene symbol: RASAL1
• Synonyms (NCBI Gene): RASAL
• Chromosome: 12
• Chromosome location: 12q24.13
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 604118
• HGNC: 9873
• e!Ensembl: 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

Pathways

KEGG:

Ras signaling pathway

Reactome:

Regulation of RAS by GAPs

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST CANCER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	18992247		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	20473946		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	24136889, 24712574, 26980298		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28927155		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29779034	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	17640920, 24377515, 24712574	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21067840	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	23665422, 27692563		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31847887		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18992247		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	18992247		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18992247		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29029395		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	24136889, 24712574		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	24712574		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27012941, 27124111	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	CTD_human_DG	23665422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Acute	Kidney Failure	BEFREE	27692563		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	29518763	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21067840, 27878301		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28927155		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	27878301, 29344173		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20473946, 22825043, 24377515, 24531877, 25735335		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	24136889, 24712574, 26008146		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29344173		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31847887		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	29518763		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	29518763	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	29518763	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17640920, 18992247, 22825043, 24136889, 24377515, 24531877, 24712574, 25735335, 26008146, 27878301, 29344173, 31847887		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	26997440		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	24136889, 24712574		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29620190		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	23665422		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20473946, 22825043, 24377515, 24531877, 25735335		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24377515	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid cancer follicular	Follicular thyroid cancer	Pubtator	24712574	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	29518763	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	24712574	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer, follicular	Thyroid cancer	BEFREE	24712574		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	24136889, 24712574, 26008146		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	24712574	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	24136889, 24712574, 26008146		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	24712574, 26008146	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22140553	Associate	★☆☆☆☆ Found in Text Mining only