RIT1 - Ras like without CAAX 1 Gene

Also Known as NS8; RIT; RIBB; ROC1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6016

About RIT1

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:155,897,808-155,911,349 (from NCBI)

This gene has 10 transcripts (splice variants), 161 orthologues, 35 paralogues and is associated with 4 phenotypes. Ubiquitous expression in bone marrow (RPKM 8.9), esophagus (RPKM 4.8) and 25 other tissues.

Summary

This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

RIT1 Products (3)

mRNA	Protein	Name
NM_001256820.2	NP_001243749.1	GTP-binding protein Rit1 isoform 3
NM_001256821.2	NP_001243750.1	GTP-binding protein Rit1 isoform 1
NM_006912.6	NP_008843.1	GTP-binding protein Rit1 isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Verweise	Source
enables GTP binding	IDA IDA: Inferred from direct assay	10545207	GOA
enables GTPase activity	IDA IDA: Inferred from direct assay	10545207	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10545207	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in Ras protein signal transduction	IDA IDA: Inferred from direct assay	23791108	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

RIT1 Protein Structure

Ras

0
100
200
219 a.a.

Protein Preferred Names	Protein Names
GTP-binding protein Rit1	GTP-binding protein Roc1

RIT1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	RIT1	Q92963	PAK1	Homo sapiens	Q13153	Pull Down	29734338
Intra	RIT1	Q92963	RAC1	Homo sapiens	P63000	Confocal	29734338
Intra	RIT1	Q92963	RAC1	Homo sapiens	P63000	Pull Down	29734338
Intra	RIT1	Q92963	RAC1	Homo sapiens	P63000	Anti Bait CoIP	29734338
Intra	RIT1	Q92963	RAC1	Homo sapiens	P63000	Anti Tag CoIP	29734338
Intra	RIT1	Q92963	CDC42	Homo sapiens	P60953	Pull Down	29734338
Intra	RIT1	Q92963	CDC42	Homo sapiens	P60953	Anti Bait CoIP	29734338
Intra	RIT1	Q92963	CDC42	Homo sapiens	P60953	Anti Tag CoIP	29734338
Intra	RIT1	Q92963	RLF	Homo sapiens	Q13129	Y2H	10545207
Intra	RIT1	Q92963	RLF	Homo sapiens	Q13129	Pull Down	10545207

Cross: Cross-species interaction Intra: Intraspecies interaction

RIT1 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P810914	RIT1 Antibody	WB, ICC/IF	Human, Mouse

Related Diseases

Diseases	Alias
Noonan Syndrome 8	NS8 Noonan Syndrome, Type 8
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
Pseudo-Turner Syndrome	Noonan Syndrome
Noonan Syndrome And Noonan-Related Syndrome
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Hydrops Fetalis, Nonimmune	Hydrops Fetalis Non-Immune Hydrops Fetalis NIHF Familial Non-Immune Hydrops Fetalis Hydrops Fetalis Nonimmune Idiopathic Hydrops Fetalis Hb Bart'S Hydrops Fetalis Alpha-Thalassemia Hydrops Fetalis Alpha-Thalassemia Major Hemoglobin Bart'S Hydrops Fetalis Homozygous Alpha0-Thalassemia Fetal Anasarca Fetal Hydrops Generalized Fetal Edema Hf Non-Immune Hf Non-Immune Fetal Edema Non-Immune Fetal Hydrops Hydrops Fetalis, Non-Immune Hemoglobin Bart'S Hydrops Syndrome
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Megalencephaly-Capillary Malformation Syndrome MCAP Macrocephaly-Capillary Malformation Mcmtc Mcm Megalencephaly Cutis Marmorata Telangiectatica Congenita Macrocephaly-Cutis Marmorata Telangiectatica Congenita Megalencephaly-Cutis Marmorata Telangiectatica Congenita Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic M-Cm Macrocephaly Cutis Marmorata Telangiectatica Congenita Macrocephaly-Capillary Malformation Syndrome M-Cmtc Megalocephaly Cutis Marmorata Telangiectatica Congenita Macrocephaly-Cutis Marmorata Telangiectatica Congenita Syndrome Megalencephaly-Cutis Marmorata Telangiectatica Congenita Syndrome
Hypertelorism	Eyes Wide Apart Eyes Widely Set Hypertelorism Of Orbit Ocular Hypertelorism Orbital Separation Excessive
Juvenile Myelomonocytic Leukemia	Leukemia, Juvenile Myelomonocytic JMML Leukemia, Juvenile Myelomonocytic, Somatic Juvenile Chronic Myelomonocytic Leukemia Juvenile Chronic Myelogenous Leukemia Leukemia, Myelomonocytic, Juvenile Juvenile Myelomonocytic Leukaemia Without Mention Of Remission
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Refractory Hairy Cell Leukemia
Refractory Hematologic Cancer	Refractory Hematologic Malignancy
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	CMTX5 Rosenberg-Chutorian Syndrome Charcot-Marie-Tooth Disease X-Linked Recessive 5 Optic Atrophy, Polyneuropathy, And Deafness Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5 Cmt5x X-Linked Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5 Optic Atrophy Polyneuropathy Deafness Optic Atrophy With Polyneuropathy And Deafness Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5
Myasthenic Syndrome, Congenital, 5	Endplate Acetylcholinesterase Deficiency Congenital Myasthenic Syndrome 5 CMS5 Ead Engel Congenital Myasthenic Syndrome Myasthenic Syndrome, Congenital, Engel Type Cms Ic Congenital Myasthenic Syndrome Type Ic Congenital Myasthenic Syndrome Type Ic, Formerly Cms1c, Formerly Cms Ic, Formerly Congenital Myasthenic Syndrome Engel Type End Plate Acetylcholinesterase Deficiency Synaptic Congenital Myasthenic Syndromes Cms1c Cmse Congenital Myasthenic Syndrome Type 1c End-Plate Acetylcholinesterase Deficiency Myasthenic Syndrome, Congenital, Type 5
Neurilemmomatosis	Schwannomatosis Neurofibromatosis Type 3 Nf3 Neurilemmomatosis Congenital Cutaneous Neurinomatosis Congenital Cutaneous Neurilemmomatosis Multiple Neurilemmomas Multiple Schwannomas Neurilemmomatosis, Congenital Cutaneous Schwannomatosis 1 Neurofibromatosis 3 Mixed Central And Peripheral Neurofibromatosis Nf3 - [Neurofibromatosis Type 3]
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
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

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Phase
HY-144903	Migoprotafib	Inhibitor	98.81%	Phase 1

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS01414	BCL11B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12003	RIT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21827	Bcl11b Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	RIT1	VGNC	VGNC:45600
Rattus norvegicus	RIT1	RGD	RGD:1559874
Macaca mulatta	RIT1	VGNC	VGNC:76697
Mus musculus	RIT1	MGD	MGI:108053
Bos taurus	RIT1	VGNC	VGNC:33987
Others	RIT1	NCBI