1. Gene
  2. RIT1 - Ras like without CAAX 1 Gene

RIT1 - Ras like without CAAX 1 Gene

中文名称:没有 CAAX 1 的 Ras

种属: Homo sapiens

同用名: NS8; RIT; RIBB; ROC1

基因 ID: 6016 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 Ras 相关 GTP 酶亚家族的成员。编码的蛋白质参与调节与细胞应激相关的 p38 MAPK 依赖性信号级联。这种蛋白质还与神经生长因子协同作用,促进神经元的发育和再生。交替剪接导致多个转录本变体。[RefSeq 提供,2012 年 2 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables GTP binding IDA
IDA: 通过直接分析推断
10545207 GOA
enables GTPase activity IDA
IDA: 通过直接分析推断
10545207 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10545207 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Ras protein signal transduction IDA
IDA: 通过直接分析推断
23791108 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

RIT1 蛋白结构

Ras

Ras: Ras family (23 - 183)

  • 0
  • 100
  • 200
  • 219 a.a.
蛋白主名 其他名称

GTP-binding protein Rit1

GTP-binding protein Roc1

RIT1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
RIT1 Q92963 PAK1 Homo sapiens Q13153
Pull Down
29734338
种属内
RIT1 Q92963 RAC1 Homo sapiens P63000
Confocal
29734338
种属内
RIT1 Q92963 RAC1 Homo sapiens P63000
Pull Down
29734338
种属内
RIT1 Q92963 RAC1 Homo sapiens P63000
Anti Bait CoIP
29734338
种属内
RIT1 Q92963 RAC1 Homo sapiens P63000
Anti Tag CoIP
29734338
种属内
RIT1 Q92963 CDC42 Homo sapiens P60953
Pull Down
29734338
种属内
RIT1 Q92963 CDC42 Homo sapiens P60953
Anti Bait CoIP
29734338
种属内
RIT1 Q92963 CDC42 Homo sapiens P60953
Anti Tag CoIP
29734338
种属内
RIT1 Q92963 RLF Homo sapiens Q13129
Y2H
10545207
种属内
RIT1 Q92963 RLF Homo sapiens Q13129
Pull Down
10545207
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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