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  2. RAB38 - RAB38, member RAS oncogene family Gene

RAB38 - RAB38, member RAS oncogene family Gene

中文名称:RAB38,RAS 致癌基因家族成员

种属: Homo sapiens

同用名: rrGTPbp; NY-MEL-1

基因 ID: 23682 | 基因类型: protein coding

关于 RAB38

Cytogenetic location: 11q14.2 Genomic coordinates (GRCh38): 11:87,803,715-88,175,443 (from NCBI)

This gene has 3 transcripts (splice variants), 267 orthologues and 68 paralogues. Biased expression in skin (RPKM 6.0), esophagus (RPKM 5.8) and 13 other tissues.

功能概要

启用多种功能,包括 AP-1 适配器复合体绑定活动; AP-3 适配器复合物结合活性;和 BLOC-2 复合物结合活性。参与几个过程,包括核内体到黑素体的运输;黑素体组装;和吞噬体酸化。位于几种细胞成分中,包括细胞质囊泡;溶酶体;和线粒体相关的内质网膜。 [由基因组资源联盟提供,2022 年 4 月]

Enables several functions, including AP-1 adaptor complex binding activity; AP-3 adaptor complex binding activity; and BLOC-2 complex binding activity. Involved in several processes, including endosome to melanosome transport; melanosome assembly; and phagosome acidification. Located in several cellular components, including cytoplasmic vesicle; lysosome; and mitochondria-associated endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

RAB38 基因产物(1)

mRNA Protein Name
NM_022337.3 NP_071732.1 ras-related protein Rab-38
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 AP-1 adaptor complex binding IPI
IPI: 通过物理相互作用推断
22511774 GOA
NOT enables AP-2 adaptor complex binding IDA
IDA: 通过直接分析推断
22511774 GOA
enables AP-3 adaptor complex binding IPI
IPI: 通过物理相互作用推断
22511774 GOA
enables BLOC-2 complex binding IPI
IPI: 通过物理相互作用推断
22511774 GOA
enables GTP-dependent protein binding IPI
IPI: 通过物理相互作用推断
22511774 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22511774 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in endosome to melanosome transport IMP
IMP: 通过突变表型推断
22511774 GOA
involved in melanosome assembly IDA
IDA: 通过直接分析推断
23084991 GOA
involved in melanosome assembly IMP
IMP: 通过突变表型推断
22511774 GOA
involved in mitochondrion organization IMP
IMP: 通过突变表型推断
25767741 GOA
involved in phagosome acidification IMP
IMP: 通过突变表型推断
21255211 GOA
involved in protein localization to membrane IMP
IMP: 通过突变表型推断
22511774 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in early endosome IDA
IDA: 通过直接分析推断
22511774 GOA
NOT located in early endosome lumen IDA
IDA: 通过直接分析推断
22511774 GOA
located in lysosome IDA
IDA: 通过直接分析推断
25767741 GOA
located in melanosome IDA
IDA: 通过直接分析推断
22511774 GOA
located in melanosome membrane IDA
IDA: 通过直接分析推断
23084991 GOA
located in membrane IDA
IDA: 通过直接分析推断
22511774 GOA
located in mitochondria-associated endoplasmic reticulum membrane contact site IDA
IDA: 通过直接分析推断
25767741 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
25767741 GOA
located in phagocytic vesicle IDA
IDA: 通过直接分析推断
21255211 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

RAB38 蛋白结构

Ras

Ras: Ras family (11 - 178)

  • 0
  • 100
  • 211 a.a.
蛋白主名 其他名称

ras-related protein Rab-38

Rab-related GTP-binding protein

RAB38 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
RAB38 P57729 JPH3 Homo sapiens Q8WXH2
Validated Y2H
32814053
种属内
RAB38 P57729 JPH3 Homo sapiens Q8WXH2
Y2H Array
32814053
种属内
RAB38 P57729 JPH3 Homo sapiens Q8WXH2
Y2H Pooling
32814053
种属内
RAB38 P57729 DNM2 Homo sapiens P50570-2
Y2H Array
32814053
种属内
RAB38 P57729 DNM2 Homo sapiens P50570-2
Y2H Pooling
32814053
种属内
RAB38 P57729 DNM2 Homo sapiens P50570-2
Validated Y2H
32814053
种属内
RAB38 P57729 MECP2 Homo sapiens P51608
Y2H Array
32814053
种属内
RAB38 P57729 MECP2 Homo sapiens P51608
Validated Y2H
32814053
种属内
RAB38 P57729 MECP2 Homo sapiens P51608
Y2H Pooling
32814053
种属内
RAB38 P57729 TOR1A Homo sapiens O14656-2
Validated Y2H
32814053
种属内
RAB38 P57729 TOR1A Homo sapiens O14656-2
Y2H Array
32814053
种属内
RAB38 P57729 TOR1A Homo sapiens O14656-2
Y2H Pooling
32814053
种属内
RAB38 P57729 SMN1 Homo sapiens Q16637
Y2H Array
32814053
种属内
RAB38 P57729 SMN1 Homo sapiens Q16637
Y2H Pooling
32814053
种属内
RAB38 P57729 SMN1 Homo sapiens Q16637
Validated Y2H
32814053
种属内
RAB38 P57729 LRRK2 Homo sapiens Q5S007
FPS
31552791
种属内
RAB38 P57729 LRRK2 Homo sapiens Q5S007
Pull Down
31552791
种属内
RAB38 P57729 A2M Homo sapiens P01023
Validated Y2H
32814053
种属内
RAB38 P57729 A2M Homo sapiens P01023
Y2H Pooling
32814053
种属内
RAB38 P57729 A2M Homo sapiens P01023
Y2H Array
32814053
种属内
RAB38 P57729 NDUFV2 Homo sapiens P19404
Validated Y2H
32814053
种属内
RAB38 P57729 NDUFV2 Homo sapiens P19404
Y2H Array
32814053
种属内
RAB38 P57729 NDUFV2 Homo sapiens P19404
Y2H Pooling
32814053
种属内
RAB38 P57729 GFAP Homo sapiens P14136
Y2H Array
32814053
种属内
RAB38 P57729 GFAP Homo sapiens P14136
Y2H Pooling
32814053
种属内
RAB38 P57729 GFAP Homo sapiens P14136
Validated Y2H
32814053
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
Oculocutaneous Albinism

Albinism, Oculocutaneous

Oca

Albinism Oculocutaneous

Oca - [Oculocutaneous Albinism]

Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

Griscelli Syndrome

Chediak-Higashi-Like Syndrome

Griscelli-Prunieras Syndrome

Partial Albinism-Immunodeficiency Syndrome

Griscelli Disease

Gs

Hypopigmentation Immunodeficiency Disease

Partial Albinism With Immunodeficiency

Immunodeficiency Syndrome With Hypopigmentation

Hypopigmentation-Immunodeficiency Disease

Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia

Piebald Trait

Piebaldism

PBT

Partial Albinism

Albinoidism, Oculocutaneous, Autosomal Dominant

Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Carpenter Syndrome 1

Carpenter Syndrome

Acrocephalopolysyndactyly Type Ii

Acps Ii

CRPT1

Acrocephalopolysyndactyly Type 2

Acrocephalosyndactyly, Type Ii

Acrocephalopolysyndactyly 2

Acps2

Acps 2

Type Ii Acrocephalosyndactyly

Carpenter Syndrome, Type 1

Apert-Crouzon Disease

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

FTDALS1

Frontotemporal Dementia And/Or Motor Neuron Disease

Ftdmnd

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

Alsftd

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

Frontotemporal Dementia With Motor Neuron Disease

Ftdals

Ftd-Als

Ftd-Mnd

Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

Frontotemporal Lobar Degeneration

Grn-Related Frontotemporal Dementia

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 RAB38 VGNC VGNC:81536
Felis catus RAB38 VGNC VGNC:81950
Rattus norvegicus RAB38 RGD RGD:628752
Mus musculus RAB38 MGD MGI:1919683
Bos taurus RAB38 VGNC VGNC:33646
Canis familiaris RAB38 VGNC VGNC:45280