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  2. RAB4A - RAB4A, member RAS oncogene family Gene

RAB4A - RAB4A, member RAS oncogene family Gene

中文名称:RAB4A,RAS 致癌基因家族成员

种属: Homo sapiens

同用名: RAB4; HRES1; HRES-1; HRES-1/RAB4

基因 ID: 5867 | 基因类型: protein coding

关于 RAB4A

Cytogenetic location: 1q42.13 Genomic coordinates (GRCh38): 1:229,271,111-229,305,894 (from NCBI)

This gene has 5 transcripts (splice variants), 206 orthologues and 68 paralogues. Ubiquitous expression in prostate (RPKM 22.3), heart (RPKM 17.5) and 25 other tissues.

功能概要

该基因是小 GTP 酶 Ras 超家族中最大的一个基因组的成员,它调节膜运输。编码的蛋白质与早期内体相关,并参与它们的分类和回收。该蛋白质还在调节受体从核内体到质膜的再循环中发挥作用。已观察到该基因的可变剪接转录物变体。[RefSeq 提供,2012 年 12 月]

This gene is a member of the largest group in the Ras superfamily of small GTPases, which regulate membrane trafficking. The encoded protein is associated with early endosomes and is involved in their sorting and recycling. The protein also plays a role in regulating the recycling of receptors from endosomes to the plasma membrane. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]

RAB4A 基因产物(2)

mRNA Protein Name
NM_001271998.2 NP_001258927.1 ras-related protein Rab-4A isoform 2
NM_004578.4 NP_004569.2 ras-related protein Rab-4A isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables GDP binding IDA
IDA: 通过直接分析推断
15907487 GOA
enables GTP binding IDA
IDA: 通过直接分析推断
15907487 GOA
enables GTPase activity IDA
IDA: 通过直接分析推断
15907487 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16034420 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in antigen processing and presentation IMP
IMP: 通过突变表型推断
19717423 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular exosome IDA
IDA: 通过直接分析推断
15326289 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
19590752 GOA
located in vesicle IDA
IDA: 通过直接分析推断
19590752 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
蛋白主名 其他名称

ras-related protein Rab-4A

HTLV-1 related endogenous sequence

RAB4A 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
Intra RAB4A P20338 GDI2 Homo sapiens P50395
Anti Tag CoIP
33961781
Intra RAB4A P20338 GDI2 Homo sapiens P50395
Anti Tag CoIP
19570034
Intra RAB4A P20338 GDI2 Homo sapiens P50395
Anti Tag CoIP
35271311
Intra RAB4A P20338 RBSN Homo sapiens Q9H1K0
Validated Y2H
32296183
Intra RAB4A P20338 RBSN Homo sapiens Q9H1K0
BRET
29997244
Intra RAB4A P20338 RBSN Homo sapiens Q9H1K0
Y2H Prey Pooling
32296183
Intra RAB4A P20338 RBSN Homo sapiens Q9H1K0
Y2H Array
32296183
Intra RAB4A P20338 KCTD7 Homo sapiens Q96MP8-2
Validated Y2H
32296183
Intra RAB4A P20338 HACE1 Homo sapiens Q8IYU2
Y2H Array
32296183
Intra RAB4A P20338 HACE1 Homo sapiens Q8IYU2
Y2H Prey Pooling
32296183
Intra RAB4A P20338 HACE1 Homo sapiens Q8IYU2
Validated Y2H
32296183
Intra RAB4A P20338 RABEP1 Homo sapiens Q15276
Y2H Prey Pooling
32296183
Intra RAB4A P20338 RABEP1 Homo sapiens Q15276
Validated Y2H
32296183
Intra RAB4A P20338 RABEP1 Homo sapiens Q15276
Y2H Array
32296183
Intra RAB4A P20338 GRIPAP1 Homo sapiens Q4V328
Y2H
21988832
Intra RAB4A P20338 GRIPAP1 Homo sapiens Q4V328
Validated Y2H
32296183
Intra RAB4A P20338 GRIPAP1 Homo sapiens Q4V328
Y2H Array
32296183
Intra RAB4A P20338 GRIPAP1 Homo sapiens Q4V328
Y2H Prey Pooling
32296183
Intra RAB4A P20338 GARIN6 Homo sapiens Q8NEG0
Y2H Array
32296183
Intra RAB4A P20338 GARIN6 Homo sapiens Q8NEG0
Y2H Prey Pooling
32296183
Intra RAB4A P20338 GARIN6 Homo sapiens Q8NEG0
Validated Y2H
32296183
Intra RAB4A P20338 GDI1 Homo sapiens P31150
Anti Tag CoIP
35271311
Intra RAB4A P20338 EXOC5 Homo sapiens O00471
Y2H Array
25416956
Intra RAB4A P20338 EXOC5 Homo sapiens O00471
Y2H Prey Pooling
32296183
Intra RAB4A P20338 EXOC5 Homo sapiens O00471
Y2H Array
32296183
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
Pontocerebellar Hypoplasia, Type 2e

Pontocerebellar Hypoplasia Type 2

Pontocerebellar Hypoplasia Type 2e

Pch2

PCH2E

Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy

Pontocerebellar Hypoplasia 2e

Pcca2

Progressive Cerebello-Cerebral Atrophy Type 2

Doid:0112328

Hypoplasia, Pontocerebellar, Type 2e

Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2a

Diffuse Infiltrative Lymphocytosis Syndrome
Charcot-Marie-Tooth Disease, Type 4d

Charcot-Marie-Tooth Disease Type 4d

CMT4D

Hmsnl

Hmsn4d

Charcot-Marie-Tooth Neuropathy Type 4d

Hereditary Motor And Sensory Neuropathy Lom Type

Hmsn-Lom

Neuropathy, Hereditary Motor And Sensory, Lom Type

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d

Charcot-Marie-Tooth Neuropathy, Type 4d

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4d

Hmsn Lom Type

Hmsn, Lom Type

Hereditary Motor And Sensory Neuropathy, Lom Type

Charcot-Marie-Tooth Disease 4d

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4d

Hereditary Motor And Sensory Neuropathy Ivd

Hmsn Ivd

Charcot-Marie-Tooth Disease, Axonal, Type 2b

Charcot-Marie-Tooth Disease Type 2b

CMT2B

Hmsn Iib

Hmsn2b

Charcot-Marie-Tooth Disease, Type 2b

Hereditary Motor And Sensory Neuropathy Iib

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b

Charcot-Marie-Tooth Neuropathy Type 2b

Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b

Charcot-Marie-Tooth Neuropathy, Type 2b

Hereditary Motor And Sensory Nueropathy Iib

Cmt 2b

Charcot Marie Tooth Disease Type 2b

Charcot-Marie-Tooth Disease, Neuronal, Type 2b

Hereditary Motor And Sensory Neuropathy 2 B

Peripheral Sensory Neuropathy, Autosomal Dominant

Charcot-Marie-Tooth Disease 2b

Charcot-Marie-Tooth Disease Axonal Type 2b

Charcot-Marie-Tooth Disease Neuronal Type 2b

Peripheral Sensory Neuropathy Autosomal Dominant

Psn

Chronic Myelomonocytic Leukemia

Leukemia, Myelomonocytic, Chronic

Cmml

Leukemia Myelomonocytic Chronic

Cmml - [Chronic Myelomonocytic Leukaemia]

Chronic Myelomonocytic Leukaemia Without Mention Of Remission

Chronic Monocytic Leukaemia

Chronic Monocytoid Leukaemia

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4

Charcot-Marie-Tooth Disease Type 4e

Hereditary Motor And Sensory Neuropathy

Cmt4e

CHN1

Hypomyelinating Neuropathy, Congenital, 1

Charcot-Marie-Tooth Neuropathy Type 4e

Neuropathy, Congenital Hypomyelinating, 1

Ar-Cmt1

Autosomal Recessive Demyelinating Charcot-Marie-Tooth

Cmt4

Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

Hypomyelination, Severe Congenital

Charcot-Marie-Tooth Disease, Type 4e

Charcot-Marie-Tooth Neuropathy, Type 4e

Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

Autosomal Recessive Congenital Hypomyelinating Neuropathy

Congenital Amyelinating Neuropathy

Congenital Hypomyelinating Neuropathy Autosomal Recessive

Neuropathy, Congenital Hypomyelinating Or Amyelinating

Severe Congenital Hypomyelination

Hereditary Sensory Motor Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

Neuropathy, Hypomyelinating, Congenital, Type 1

Neuropathy, Motor And Sensory, Hereditary

Congenital Hypomyelinating Neuropathy

Hereditary Motor And Sensory Neuropathies

Hereditary Sensorimotor Neuropathy

Hmsn - [Hereditary Motor And Sensory Neuropathy]

Hsmn - [Hereditary Sensory And Motor Neuropathy]

Hereditary Motor And Sensory Neuropathy, Types I-Iv

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
Macaca mulatta RAB4A VGNC VGNC:81545
Rattus norvegicus RAB4A RGD RGD:3529
Canis familiaris RAB4A VGNC VGNC:45290
Mus musculus RAB4A MGD MGI:105069
Bos taurus RAB4A VGNC VGNC:33657