RASAL3 (RAS protein activator like 3)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 64926
• Gene name: RAS protein activator like 3
• Gene symbol: RASAL3
• Synonyms (NCBI Gene): -
• Chromosome: 19
• Chromosome location: 19p13.12
• Summary: This gene belongs to the Ras GTPase-activating proteins (RasGAP) family and encodes a protein with pleckstrin homology (PH), C2, and Ras GTPase-activation protein (RasGAP) domains. This protein is localized near or at the plasma membrane when expressed ex

miRNA Show/Hide all (7)

miRTarBase ID	miRNA	Experiments	Reference
MIRT039709	hsa-miR-615-3p	CLASH	23622248
MIRT2311754	hsa-miR-1183	CLIP-seq
MIRT2311755	hsa-miR-3158-3p	CLIP-seq
MIRT2311756	hsa-miR-4286	CLIP-seq
MIRT2311757	hsa-miR-4446-3p	CLIP-seq
MIRT2311758	hsa-miR-4480	CLIP-seq
MIRT2311759	hsa-miR-4717-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IDA	25652366
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005938	Component	Cell cortex	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0046580	Process	Negative regulation of Ras protein signal transduction	IMP	25652366
GO:0051142	Process	Positive regulation of NK T cell proliferation	IMP	25652366
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0098562	Component	Cytoplasmic side of membrane	IDA	25652366
GO:1902531	Process	Regulation of intracellular signal transduction	IBA

Other IDs

• MIM: 616561
• HGNC: 26129
• e!Ensembl: ENSG00000105122

Protein

• UniProt ID: Q86YV0
• Protein name: RAS protein activator like-3
• Protein function: Functions as a Ras GTPase-activating protein. Plays an important role in the expansion and functions of natural killer T (NKT) cells in the liver by negatively regulating RAS activity and the down-stream ERK signaling pathway. {ECO:0000250|UniPr
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00616	RasGAP	548 → 650	GTPase-activator protein for Ras-like GTPase	Family
  PF00616	RasGAP	479 → 557	GTPase-activator protein for Ras-like GTPase	Family

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in cells of hematopoietic lineages. {ECO:0000269|PubMed:25652366}.
• Sequence:

  MDPPSPSRTSQTQPTATSPLTSYRWHTGGGGEKAAGGFRWGRFAGWGRALSHQEPMVSTQ
  PAPRSIFRRVLSAPPKESRTSRLRLSKALWGRHKNPPPEPDPEPEQEAPELEPEPELEPP
  TPQIPEAPTPNVPVWDIGGFTLLDGKLVLLGGEEEGPRRPRVGSASSEGSIHVAMGNFRD
  PDRMPGKTEPETAGPNQVHNVRGLLKRLKEKKKARLEPRDGPPSALGSRESLATLSELDL
  GAERDVRIWPLHPSLLGEPHCFQVTWTGGSRCFSCRSAAERDRWIEDLRRQFQPTQDNVE
  REETWLSVWVHEAKGLPRAAAGAPGVRAELWLDGALLARTAPRAGPGQLFWAERFHFEAL
  PPARRLSLRLRGLGPGSAVLGRVALALEELDAPRAPAAGLERWFPLLGAPAGAALRARIR
  ARRLRVLPSERYKELAEFLTFHYARLCGALEPALPAQAKEELAAAMVRVLRATGRAQALV
  TDLGTAELARCGGREALLFRENTLATKAIDEYMKLVAQDYLQETLGQVVRRLCASTEDCE
  VDPSKCPASELPEHQARLRNSCEEVFETIIHSYDWFPAELGIVFSSWREACKERGSEVLG
  PRLVCASLFLRLLCPAILAPSLFGLAPDHPAPGPARTLTLIAKVIQNLANRAPFGEKEAY
  MGFMNSFLEEHGPAMQCFLDQVAMVDVDAAPSGYQGSGDLALQLAVLHAQLCTIFAELDQ
  TTRDTLEPLPTILRAIEEGQPVLVSVPMRLPLPPAQVHSSLSAGEKPGFLAPRDLPKHTP
  LISKSQSLRSVRRSESWARPRPDEERPLRRPRPVQRTQSVPVRRPARRRQSAGPWPRPKG
  SLSMGPAPRARPWTRDSASLPRKPSVPWQRQMDQPQDRNQALGTHRPVNKLAELQCEVAA
  LREEQKVLSRLVESLSTQIRALTEQQEQLRGQLQDLDSRLRAGSSEFDSEHNLTSNEGHS
  LKNLEHRLNEMERTQAQLRDAVQSLQLSPRTRGSWSQPQPLKAPCLNGDTT

• Sequence length: 1011

Pathways

KEGG Pathway:

Ras signaling pathway

Reactome Pathway:

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	Reference	Evidence Score
Acute megakaryoblastic leukemia	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR DISORDER	—	GWAS catalog	40465716	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	33632238	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mediastinal germ cell tumor	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (6)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Diverticulitis	Diverticulitis	Pubtator	28619727	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30047926		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26503545		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	32514133	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30047926		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	26503545		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

RASA4 2 shared pathwaysRas signaling pathway, Regulation of RAS by GAPs Related via 2 shared pathways including Ras signaling pathway, Regulation of RAS by GAPs. RASA3 2 shared pathwaysRas signaling pathway, Regulation of RAS by GAPs Related via 2 shared pathways including Ras signaling pathway, Regulation of RAS by GAPs. RASAL1 2 shared pathwaysRas signaling pathway, Regulation of RAS by GAPs Related via 2 shared pathways including Ras signaling pathway, Regulation of RAS by GAPs. SYNGAP1 2 shared pathwaysRas signaling pathway, Regulation of RAS by GAPs Related via 2 shared pathways including Ras signaling pathway, Regulation of RAS by GAPs. RASAL2 2 shared pathwaysRas signaling pathway, Regulation of RAS by GAPs Related via 2 shared pathways including Ras signaling pathway, Regulation of RAS by GAPs.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
RASA4	0	[]	2	["Ras signaling pathway","Regulation of RAS by GAPs"]	0	[]
RASA3	0	[]	2	["Ras signaling pathway","Regulation of RAS by GAPs"]	0	[]
RASAL1	0	[]	2	["Ras signaling pathway","Regulation of RAS by GAPs"]	0	[]
SYNGAP1	0	[]	2	["Ras signaling pathway","Regulation of RAS by GAPs"]	0	[]
RASAL2	0	[]	2	["Ras signaling pathway","Regulation of RAS by GAPs"]	0	[]

Diseases Linked via Similar Genes

Alzheimer disease Linked via 2 of 5 related genesRASA3, SYNGAP1 Schizophrenia Linked via 2 of 5 related genesRASA3, SYNGAP1 Autism Linked via 2 of 5 related genesSYNGAP1, RASAL2 Melanoma Linked via 1 of 5 related genesRASA3 Major depressive disorder Linked via 1 of 5 related genesRASA3

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Alzheimer disease	2	["RASA3","SYNGAP1"]
Schizophrenia	2	["RASA3","SYNGAP1"]
Autism	2	["SYNGAP1","RASAL2"]
Melanoma	1	["RASA3"]
Major depressive disorder	1	["RASA3"]