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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

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

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

MIM	HGNC	e!Ensembl
616561	26129	ENSG00000105122

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	479 → 557	GTPase-activator protein for Ras-like GTPase	Family
PF00616	RasGAP	548 → 650	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

Interactions

View interactions

	KEGG		Reactome
	Ras signaling pathway		Regulation of RAS by GAPs

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)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute megakaryoblastic leukemia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mediastinal germ cell tumor	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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

RASAL3 (RAS protein activator like 3)