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  2. RAP1A - RAP1A, member of RAS oncogene family Gene

RAP1A - RAP1A, member of RAS oncogene family Gene

中文名称:RAP1A,RAS 致癌基因家族成员

种属: Homo sapiens

同用名: RAP1; C21KG; G-22K; KREV1; KREV-1; SMGP21

基因 ID: 5906 | 基因类型: protein coding

关于 RAP1A

Cytogenetic location: 1p13.2 Genomic coordinates (GRCh38): 1:111,542,009-111,716,691 (from NCBI)

This gene has 4 transcripts (splice variants), 110 orthologues and 35 paralogues. Ubiquitous expression in appendix (RPKM 12.2), esophagus (RPKM 11.3) and 25 other tissues.

功能概要

该基因编码小 GTP 酶 Ras 家族的成员。编码的蛋白质会发生构象状态和活性的变化,这取决于它是与 GTP 还是 GDP 结合。这种蛋白质被几种类型的鸟嘌呤核苷酸交换因子 (GEF) 激活,并被两组 GTP 酶激活蛋白 (GAP) 灭活。因此,编码蛋白的激活状态受 GEF 和 GAP 细胞内水平平衡的影响。编码的蛋白质调节影响细胞增殖和粘附的信号通路,并可能在肿瘤恶性肿瘤中发挥作用。该基因的假基因已在 14 号和 17 号染色体上定义。可变剪接导致多个转录变体。[RefSeq 提供,2014 年 5 月]

This gene encodes a member of the Ras family of small GTPases. The encoded protein undergoes a change in conformational state and activity, depending on whether it is bound to GTP or GDP. This protein is activated by several types of guanine nucleotide exchange factors (GEFs), and inactivated by two groups of GTPase-activating proteins (GAPs). The activation status of the encoded protein is therefore affected by the balance of intracellular levels of GEFs and GAPs. The encoded protein regulates signaling pathways that affect cell proliferation and adhesion, and may play a role in tumor malignancy. Pseudogenes of this gene have been defined on chromosomes 14 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

RAP1A 基因产物(6)

mRNA Protein Name
NM_001010935.3 NP_001010935.1 ras-related protein Rap-1A precursor
NM_001291896.3 NP_001278825.1 ras-related protein Rap-1A precursor
NM_001370216.2 NP_001357145.1 ras-related protein Rap-1A precursor
NM_001370217.2 NP_001357146.1 ras-related protein Rap-1A precursor
NM_001394066.1 NP_001380995.1 ras-related protein Rap-1A precursor
NM_002884.4 NP_002875.1 ras-related protein Rap-1A precursor

RAP1A 蛋白结构

Ras

Ras: Ras family (5 - 166)

  • 0
  • 100
  • 184 a.a.
蛋白主名 其他名称

ras-related protein Rap-1A

GTP-binding protein smg p21A

关联疾病

疾病名称 别名
Immunodeficiency 54

Natural Killer Cell Deficiency, Familial Isolated

Primary Immunodeficiency With Natural-Killer Cell Deficiency And Adrenal Insufficiency

IMD54

Nkcd

Natural Killer Cell And Glucocorticoid Deficiency With Dna Repair Defect

Nkgcd

Familial Isolated Natural Killer Cell Deficiency

Primary Immunodeficiency Due To Mcm4 Deficiency

Tuberous Sclerosis

Tuberous Sclerosis Syndrome

Bourneville'S Disease

Epiloia

Cerebral Sclerosis

Tuberose Sclerosis

Tuberous Sclerosis 1

Bourneville Disease

Bourneville Phakomatosis

Pringle'S Disease

Babesiosis

Babesiasis

Infection By Babesia

Piroplasmosis

Human Babesiosis

Babesia Parasite Infection

Piroplasma Infection

Glanzmann Thrombasthenia 1

Glanzmann Thrombasthenia

Thrombasthenia Of Glanzmann And Naegeli

Glanzmann'S Thrombasthenia

Bdplt2

Platelet Glycoprotein Iib-Iiia Deficiency

Deficiency Of Platelet Fibrinogen Receptor

GT1

Gt

Platelet Fibrinogen Receptor Deficiency

Glycoprotein Complex Iib-Iiia Deficiency

Deficiency Of Glycoprotein Complex Iib-Iiia

Glycoprotein Iib/Iiia Defect

Glanzmann Thrombasthenia, Type A

Thrombasthenia

Bleeding Disorder, Platelet-Type, 2

Gp Iib-Iiia Complex Deficiency

Deficiency Of Gp Iib-Iiia Complex

Platelet-Type Bleeding Disorder 2

Thrombocytasthenia

Deficiency Of Gp 2b 3a Complex

Diacyclothrombopathia 2b 3a

Glanzmann Thrombasthenia Type A

Platelet Fibrinogen Receptor, Deficiency Of

Platelet Glycoprotein 2b 3a Deficiency

Glanzmann Disease

Glanzmann-Naegeli Disorder

Hereditary Hemorrhagic Thrombasthenia

Hereditary Thrombasthenia

Bleeding Disorder Platelet-Type 2

Cervical Non-Keratinizing Squamous Cell Carcinoma
Chronic Granulomatous Disease

Cgd

Granulomatous Disease, Chronic

Autosomal Recessive Chronic Granulomatous Disease

X-Linked Chronic Granulomatous Disease

Bridges-Good Syndrome

Congenital Dysphagocytosis

Quie Syndrome

Chronic Septic Granulomatosis

Chronic Granulomatous Disorder

Granulomatous Disease Chronic

Granulomatous Disease, Chronic, X-Linked

Cerebral Cavernous Malformations

Cerebral Cavernous Malformation

Cavernous Malformations Of Cns And Retina

Cerebral Cavernous Malformation 1

Cavernous Angiomatous Malformations

Cerebral Capillary Malformations

CCM

Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations

Familial Cavernous Angioma

Cavernous Angioma

Familial Cerebral Cavernous Malformation

Cerebral Cavernous Malformations 1

Cavernous Angioma, Familial

Cam

Cerebral Cavernous Malformations-1

Cavernoma

Central Nervous System Cavernous Hemangioma

Cerebral Cavernous Hemangioma

Familial Cavernous Hemangioma

Familial Cavernous Malformation

Familial Cerebral Cavernous Angioma

Intracerebral Cavernous Hemangioma

CCM1

Cavernous Hemangioma Of The Brain

Cerebral Cavernoma

Cerebral Cavernous Malformations, Type 1

Hemangioma, Cavernous, Central Nervous System

Hemangioma, Cavernous

Angioma, Cavernous

Cavernous Hemangioma

Hemangioma, Cavernous

Cavernoma

Cavernous Haemangioma

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

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Kabuki Syndrome 1

Kabuki Syndrome

Niikawa-Kuroki Syndrome

Kabuki Make-Up Syndrome

Kms

KABUK1

Kabuki Make Up Syndrome

Nks

Kabuki Makeup Syndrome

Kabuki Syndrome, Type 1

Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

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
Bos taurus RAP1A VGNC VGNC:33715
Rattus norvegicus RAP1A RGD RGD:1359694
Felis catus RAP1A VGNC VGNC:80336
Macaca mulatta RAP1A VGNC VGNC:76657
Mus musculus RAP1A MGD MGI:97852
Canis familiaris RAP1A VGNC VGNC:49954