RASA1 - RAS p21 protein activator 1 Gene

Also Known as GAP; PKWS; RASA; p120; CMAVM; CM-AVM; CMAVM1; RASGAP; p120GAP; p120RASGAP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5921

About RASA1

Cytogenetic location: 5q14.3 Genomic coordinates (GRCh38): 5:87,267,883-87,391,916 (from NCBI)

This gene has 6 transcripts (splice variants), 224 orthologues, 10 paralogues and is associated with 5 phenotypes. Broad expression in placenta (RPKM 37.4), testis (RPKM 12.6) and 24 other tissues.

Summary

The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates 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. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]

RASA1 Products (2)

mRNA	Protein	Name
NM_002890.3	NP_002881.1	ras GTPase-activating protein 1 isoform 1
NM_022650.3	NP_072179.1	ras GTPase-activating protein 1 isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables GTPase activator activity	EXP EXP: Inferred from Experiment	7478585	GOA
enables GTPase binding	IPI IPI: Inferred from physical interaction	2122974	GOA
enables phosphotyrosine residue binding	IPI IPI: Inferred from physical interaction	20624904	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	1314164	GOA
enables signaling receptor binding	IPI IPI: Inferred from physical interaction	2157284	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in blood vessel morphogenesis	IMP IMP: Inferred from mutant phenotype	23687085	GOA
involved in negative regulation of apoptotic process	IDA IDA: Inferred from direct assay	15542850	GOA
involved in negative regulation of cell adhesion	IDA IDA: Inferred from direct assay	8344248	GOA
involved in negative regulation of cell-matrix adhesion	IDA IDA: Inferred from direct assay	8344248	GOA
involved in regulation of actin filament polymerization	IDA IDA: Inferred from direct assay	8344248	GOA
involved in signal transduction	IDA IDA: Inferred from direct assay	1756860	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RASA1 Protein Structure

SH2

SH3_1

SH2

RasGAP

0
200
400
600
800
1000
1047 a.a.

Protein Preferred Names	Protein Names
ras GTPase-activating protein 1	RAS p21 protein activator (GTPase activating protein) 1

RASA1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RASA1	P20936	MET	Homo sapiens	P08581	FPS	24728074
Intra	RASA1	P20936	KIT	Homo sapiens	P10721	FPS	24728074
Intra	RASA1	P20936	GMCL1	Homo sapiens	Q96IK5	Y2H Prey Pooling	32296183
Intra	RASA1	P20936	GMCL1	Homo sapiens	Q96IK5	Validated Y2H	32296183
Intra	RASA1	P20936	GMCL1	Homo sapiens	Q96IK5	Y2H Array	32296183
Intra	RASA1	P20936	DLC1	Homo sapiens	Q96QB1	Anti Bait CoIP	19151751
Intra	RASA1	P20936	DLC1	Homo sapiens	Q96QB1	Pull Down	19151751
Intra	RASA1	P20936	EGFR	Homo sapiens	P00533	Protein Array	16273093
Intra	RASA1	P20936	NCK1	Homo sapiens	P16333	Anti Tag CoIP	21664272
Intra	RASA1	P20936	NCK1	Homo sapiens	P16333	Far-WB	21664272
Intra	RASA1	P20936	NCK1	Homo sapiens	P16333	Anti Bait CoIP	21664272
Intra	RASA1	P20936	NCK1	Homo sapiens	P16333	Pull Down	21664272
Intra	RASA1	P20936	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	RASA1	P20936	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	RASA1	P20936	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	RASA1	P20936	GAB1	Homo sapiens	Q13480	CoIP	15574420
Intra	RASA1	P20936	GAB1	Homo sapiens	Q13480	FPS	24728074
Intra	RASA1	P20936	AR	Homo sapiens	P10275	FPS	24728074
Intra	RASA1	P20936	ERBB2	Homo sapiens	P04626	Protein Array	16273093
Intra	RASA1	P20936	ERBB2	Homo sapiens	P04626	Y2H Array	24412244
Intra	RASA1	P20936	PDGFRB	Homo sapiens	P09619	CoIP	8382774
Intra	RASA1	P20936	CAPNS1	Homo sapiens	P04632	Anti Bait CoIP	18761085

Cross: Cross-species interaction Intra: Intraspecies interaction

RASA1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80299	RASA1 Antibody (YA105)	WB, ICC/IF	Human, Mouse

Related Diseases

Diseases	Alias
Capillary Malformation-Arteriovenous Malformation 1	Parkes Weber Syndrome Capillary Malformation-Arteriovenous Malformation Capillary Malformation-Arteriovenous Malformation Syndrome CMAVM1 Cmavm Cm-Avm Syndrome Pkws Cm-Avm Parkes-Weber Syndrome Capillary Malformation-Arteriovenous Malformation, Type 1
Basal Cell Carcinoma 1	Basal Cell Carcinoma, Susceptibility To, 1 Basal Cell Carcinoma BCC1 BCC Multiple Basal Cell Carcinoma Non-Syndromic Basal Cell Carcinoma Carcinoma, Basal Cell, Susceptibility To, Type 1 Experimental Organism Basal Cell Carcinoma Basal Cell Carcinoma, Multiple
Basal Cell Carcinoma, Multiple	Multiple Basal Cell Carcinoma
Klippel-Trenaunay-Weber Syndrome	Klippel-Trenaunay Syndrome KTS Ktw Syndrome Angioosteohypertrophy Syndrome Angio-Osteohypertrophy Syndrome Klippel Trenaunay Syndrome Klippel-Trénaunay-Weber Syndrome Haemangiectatic Hypertrophy Weber-Klippel-Trenaunay Congenital Dysplastic Angiopathy Klippel-Trenaunay Disease Weber Klippel Trenaunay
Hereditary Hemorrhagic Telangiectasia	Rendu-Osler-Weber Disease Hht Osler-Weber-Rendu Disease Telangiectasia, Hereditary Hemorrhagic Osler Hemorrhagic Telangiectasia Syndrome Orw Disease Osler Weber Rendu Syndrome Osler-Rendu-Weber Disease Osler-Weber-Rendu Syndrome Rendu-Osler Disease Telangiectasia Hereditary Hemorrhagic Telangiectasia Hemorrhagic, Hereditary Hht - [Hereditary Haemorrhagic Telangiectasia] Osler Haemorrhagic Telangiectasia Syndrome
Angioosteohypertrophic Syndrome	Klippel-Trenaunay-Weber Syndrome Haemangiectatic Hypertrophy
Telangiectasia, Hereditary Hemorrhagic, Type 1	Orw Disease HHT1 Hht Telangiectasia, Hereditary Hemorrhagic, Of Rendu, Osler, And Weber Osler-Rendu-Weber Disease Telangiectasia, Hereditary Hemorrhagic, 1 Hereditary Hemorrhagic Telangiectasia Of Rendu, Osler, And Weber Orw1 Osler-Rendu-Weber Syndrome Osler-Rendu-Weber Syndrome 1 Telangiectasia Hemorrhagic, Hereditary, Type 1 Hereditary Hemorrhagic Telangiectasia
Hemangioma, Capillary Infantile	HCI Capillary Infantile Hemangioma Hemangioma, Hereditary Capillary Hemangioma, Capillary Infantile, Susceptibility To Hemangioma, Capillary Infantile, Somatic Hemangioma Hereditary Capillary
Weber Syndrome	Midbrain Stroke Syndromes
Arteriovenous Malformation	Arteriovenous Malformations Arteriovenous Hemangioma Cirsoid Aneurysm Racemose Aneurysm Racemose Angioma Racemose Hemangioma Congenital Arteriovenous Malformation
Sturge-Weber Syndrome	SWS Encephalotrigeminal Angiomatosis Encephalofacial Angiomatosis Sturge-Weber-Dimitri Syndrome Sturge-Weber-Krabbe Syndrome Fourth Phacomatosis Leptomeningeal Angiomatosis Meningeal Capillary Angiomatosis Sturge-Weber-Krabbe Angiomatosis Sturge-Weber Syndrome, Somatic, Mosaic Sws Type I - Facial And Leptomeningeal Angiomas Sws Type Ii - Facial Angioma Alone, No Cns Involvement Sws Type Iii - Isolated Leptomeningeal Angiomas Sturge Weber Syndrome Angiomatosis Aculoorbital-Thalamic Syndrome Encephalofacial Hemangiomatosis Encephalofacial Hemangiomatosis Syndrome Meningo-Oculo-Facial Angiomatosis Meningofacial Angiomatosis-Cerebral Calcification Syndrome Neuroretinoangiomatosis Phakomatosis, Sturge-Weber Weber-Sturge-Dimitri Syndrome
Stork Bite	Salmon Patch Nevus Unna'S Nevus
Neurofibromatosis	Neurofibromatoses Acoustic Neurofibromatosis Central Neurofibromatosis Peripheral Neurofibromatosis Recklinghausen'S Neurofibromatosis Von Reklinghausen Disease Neurofibromatosis Type 1
Neurofibromatosis, Type I	Von Recklinghausen Disease Neurofibromatosis 1 Neurofibromatosis, Type 1 NF1 Neurofibromatosis, Peripheral Type Neurofibromatosis Type I Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion Familial Spinal Neurofibromatosis Fsnf Peripheral Neurofibromatosis Von Recklinghausen'S Neurofibromatosis Von Recklinghausen Disease Due To Nf1 Mutation Or Intragenic Deletion Neurofibromatosis Peripheral Type Von Recklinghausen Syndrome Neurofibromatosis Type 1 Von Recklinghausen Neuropathy Nf1 - [Neurofibromatosis Type 1] Recklinghausen Disease
Angiokeratoma Circumscriptum
Lung Squamous Cell Carcinoma	Squamous Cell Carcinoma Of Lung Squamous Cell Lung Carcinoma Epidermoid Cell Carcinoma Of The Lung Squamous Cell Lung Cancer
Venous Malformations, Multiple Cutaneous And Mucosal	VMCM Multiple Cutaneous And Mucosal Venous Malformations Mucocutaneous Venous Malformations Vmcm1 Cutaneous And Mucosal Venous Malformation Dominantly Inherited Venous Malformations
Trophoblastic Neoplasm	Trophoblastic Tumor Trophoblastic Neoplasms
Hemangioma Of Intra-Abdominal Structure	Hemangioma Of Intra-Abdominal Structures Hemangioma, Intra-Abdominal
Lymphatic Malformation 12	Central Conducting Lymphatic Anomaly LMPHM12 Ccla Lymphatic Malformation-7 Doid:0081030
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Cloves Syndrome Clove Syndrome Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, And Skeletal/Spinal Abnormalities Clove Syndrome, Somatic Nevus Congenital Lipomatous Overgrowth - Vascular Malformation - Epidermal Nevi Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Skeletal Anomaly Syndrome Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Spinal Anomaly Syndrome CLOVE Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevi And Skeletal/Spinal Abnormalities Congenital Arteriovenous Malformation Arteriovenous Hemangioma Melanocytic Nevus Benign Melanocytic Nevus
Cardiovascular Organ Benign Neoplasm
Proteus Syndrome	Proteus Syndrome, Somatic Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome Gigantism, Partial, Of Hands And Feet, Nevi, Hemihypertrophy, And Macrocephaly Wiedemann'S Syndrome Hemihypertrophy And Macrocephaly Partial Gigantism Of Hands And Feet, Nevi, Hemihypertrophy, Macrocephaly Ps PROTEUSS Partial Gigantism Of Hands And Feet Nevi Hemihypertrophy And Macrocephaly
Basal Cell Carcinoma	Basal Cell Cancer Basal Cell Neoplasm Basal Cell Carcinoma Of Skin Malignant Basal Cell Tumor Basal Cell Tumor Epithelioma Basal Cell Malignant Basal Cell Neoplasm Rodent Ulcer Carcinoma Basal Cell Neoplasms, Basal Cell Basal Cell Carcinomas Experimental Organism Basal Cell Carcinoma Nodulo-Ulcerative Basal Cell Carcinoma Basalioma Basal Cell Epithelioma Of Skin Bcc - [Basal Cell Carcinoma] Of Skin Rodent Ulcer Of Skin Rodent Ulcer Of Unspecified Site Basal Cell Epithelioma Of Unspecified Site
Cowden Syndrome 1	Bannayan-Riley-Ruvalcaba Syndrome Pten Hamartoma Tumor Syndrome Lhermitte-Duclos Disease Bannayan-Zonana Syndrome Phts Riley-Smith Syndrome Bzs Ruvalcaba-Myhre-Smith Syndrome Multiple Hamartoma Syndrome Rmss Brrs Dysplastic Gangliocytoma Of The Cerebellum CWS1 Cs Cd Mham Pten Hamartoma Tumor Syndrome With Granular Cell Tumor Macrocephaly Multiple Lipomas And Hemangiomata Bannayan-Ruvalcaba-Riley Syndrome Myhre-Riley-Smith Syndrome LDD Cerebelloparenchymal Disorder Vi Hamartoma Syndrome, Multiple Bbrs Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata Macrocephaly, Multiple Lipomas, And Hemangiomata Macrocephaly Pseudopapilledema And Multiple Hemangiomas Ruvalcaba -Myhre-Smith Syndrome Ruvalcaba-Myhre Syndrome Cowden Disease Macrocephaly Pseudopapilledema And Multiple Hemangiomata Cerebellar Granule Cell Hypertrophy And Megalencephaly Cpd6 Pten Hamartoma Tumor Syndromes Cowden Syndrome, Type 1
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile Polyposis-Hereditary Hemorrhagic Telangiectasia Syndrome JPHT Jp/Hht Syndrome Juvenile Polyposis With Hereditary Hemorrhagic Telangiectasia Jps/Hht Telangiectasia, Hereditary Hemorrhagic, With Juvenile Polyposis Coli Polyposis, Generalized Juvenile, With Pulmonary Arteriovenous Malformation Jp-Hht JP/HHT Polyposis, Juvenile/Hereditary Hemorrhagic Telangiectasia Syndrome
Taylor'S Syndrome	Pelvic Congestion Syndrome Congestion-Fibrosis Syndrome Taylor Syndrome
Capillary Hemangioma	Infantile Hemangioma Strawberry Nevus Of Skin Cellular Hemangioma Of Infancy Congenital Vascular Hamartoma Congenital Vascular Naevus Juvenile Hemangioma Strawberry Haemangioma Strawberry Nevus Hemangioma Capillary Hemangioma, Capillary Hemangioma, Cavernous
Noonan Syndrome With Multiple Lentigines	Leopard Syndrome Multiple Lentigines Syndrome Moynahan Syndrome Cardiomyopathic Lentiginosis Progressive Cardiomyopathic Lentiginosis Cardio-Cutaneous Syndrome Lentiginosis Profusa Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome Generalized Lentiginosis Gorlin Syndrome Ii Lentiginosis Profusa Syndrome Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation Of Growth, Deafnes Diffuse Lentiginosis Nsml Familial Multiple Lentigines Syndrome Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type Progressive Cardiomyopathic Lentiginosis Syndrome Alopecia Epilepsy Oligophrenia Syndrome Of Moynahan
Uterine Corpus Endometrial Carcinoma
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Arteriovenous Malformations Of The Brain	Cerebral Arteriovenous Malformation Intracranial Arteriovenous Malformation Intracranial Hemorrhage In Brain Cerebrovascular Malformations, Susceptibility To Intracranial Arteriovenous Malformations Bavm Cerebral Arteriovenous Malformations Intracranial Hemorrhage In Brain Cerebrovascular Malformations Arteriovenous Malformation Of The Brain, Somatic Intracranial Avm Arteriovenous Malformations Cerebral
Intracranial Cavernous Angioma	Intracranial Cavernoma Intracranial Cavernous Hemangioma
Intracranial Structure Hemangioma	Angioma Of Intracranial Structure Hemangioma Of Intracranial Structure Hemangioma Of Intracranial Structures
Telangiectasis	Telangiectasia
Cardiofaciocutaneous Syndrome 1	Cardiofaciocutaneous Syndrome Cfc Syndrome Cardio-Facio-Cutaneous Syndrome CFC1 Cfcs Cardio-Facial-Cutaneous Syndrome Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure Cardiofaciocutaneous Syndrome, Type 1
Leukemia, Chronic Myeloid	Chronic Myeloid Leukemia Chronic Myelogenous Leukemia CML Chronic Granulocytic Leukemia Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib Chronic Myeloid Leukaemia Chronic Granulocytic Leukaemia Chronic Myelogenous Leukaemia Myeloid Leukemia, Chronic Leukemia, Chronic Myelogenous Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic Cml - Chronic Myelogenous Leukemia Cgl Chronic Myelocytic Leukemia Leukemia, Chronic Myeloid, Atypical ACML Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative Myeloid Leukemia Chronic Leukemia, Myeloid, Chronic Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative Cml- [Chronic Myeloid Leukaemia] Cgl - [Chronic Granulocytic Leukaemia] Chronic Myelocytic Leukaemia
Nevus, Epidermal	Epidermal Nevus Woolly Hair Nevus Epidermal Naevus Epidermal Nevus Syndrome Nevus, Keratinocytic, Nonepidermolytic Epidermal Nevus, Somatic Nevus, Epidermal, Somatic Nevus Sebaceous Or Woolly Hair Nevus, Somatic Nonepidermolytic Keratinocytic Nevus Epidermal Hamartoma Syndrome Wooly Hair Nevus Keratinocytic Non-Epidermolytic Nevus KNEN Pigmented Moles Organoid Nevus Phakomatosis Nevus Sebaceous Melanocytic Nevus Melanocytic Nevus Of Skin
Costello Syndrome	Faciocutaneoskeletal Syndrome Fcs Syndrome Congenital Myopathy With Excess Of Muscle Spindles CSTLO CMEMS Fcss Myopathy, Congenital, With Excess Of Muscle Spindles
Capillary Lymphangioma	Microcystic Lymphatic Malformation Capillary Lymphatic Malformation Microcystic Infiltrating Lymphatic Malformation Microcystic Lymphangioma Superficial Lymphangioma Cutaneous Lymphangioma Circumscriptum Superficial Lymphatic Malformation Cutaneous Lymphangioma Lymphangioma Of Skin Lymphangioma Circumscriptum
Infiltrating Angiolipoma	Angiolipoma, Infiltrating
Gingival Fibromatosis	Hereditary Gingival Fibromatosis Hereditary Gingival Hyperplasia Autosomal Dominant Gingival Fibromatosis Autosomal Dominant Gingival Hyperplasia Fibromatosis, Gingival, Hereditary Fibromatosis, Gingival
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11678	RASA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS14089	SYNGAP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22767	Rasa1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	RASA1	MGD	MGI:97860
Macaca mulatta	RASA1	VGNC	VGNC:76667
Canis familiaris	RASA1	VGNC	VGNC:45359
Rattus norvegicus	RASA1	RGD	RGD:3537
Felis catus	RASA1	VGNC	VGNC:69245
Bos taurus	RASA1	VGNC	VGNC:33735
Others	RASA1	NCBI