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  2. RAB28 - RAB28, member RAS oncogene family Gene

RAB28 - RAB28, member RAS oncogene family Gene

中文名称:RAB28,RAS 致癌基因家族成员

种属: Homo sapiens

同用名: CORD18

基因 ID: 9364 | 基因类型: protein coding

关于 RAB28

Cytogenetic location: 4p15.33 Genomic coordinates (GRCh38): 4:13,367,724-13,484,340 (from NCBI)

This gene has 8 transcripts (splice variants), 146 orthologues, 68 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 2.8), brain (RPKM 1.4) and 24 other tissues.

功能概要

该基因编码 Ras 相关小 GTPases 的 Rab 亚家族成员。编码的蛋白质可能参与调节细胞内运输。可变剪接导致多个转录本变体。在 9 号和 X 号染色体上发现了该基因的假基因。[RefSeq 提供,2009 年 4 月]

This gene encodes a member of the Rab subfamily of Ras-related small GTPases. The encoded protein may be involved in regulating intracellular trafficking. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 9 and X. [provided by RefSeq, Apr 2009]

RAB28 基因产物(3)

mRNA Protein Name
NM_001017979.3 NP_001017979.1 ras-related protein Rab-28 isoform 1
NM_001159601.2 NP_001153073.1 ras-related protein Rab-28 isoform 3
NM_004249.4 NP_004240.2 ras-related protein Rab-28 isoform 2
基因本体论
  • 分子功能
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
19026641 GOA
enables GTP binding IDA
IDA: 通过直接分析推断
19026641 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

RAB28 蛋白结构

Ras

Ras: Ras family (14 - 178)

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

ras-related protein Rab-28

RAB28 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
RAB28 P51157 ACSF3 Homo sapiens Q4G176 32296183
种属内
RAB28 P51157 PLEKHF2 Homo sapiens Q9H8W4 32296183
种属内
RAB28 P51157 PLEKHF2 Homo sapiens Q9H8W4 32296183
种属内
RAB28 P51157 PLEKHF2 Homo sapiens Q9H8W4 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
Cone-Rod Dystrophy 18

CORD18

Dystrophy, Cone-Rod, Type 18

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Syndromic X-Linked Intellectual Disability Shashi Type

Mental Retardation, X-Linked, Syndromic 11, Shashi Type

Mrxs11

Shashi X-Linked Mental Retardation Syndrome

Smrxs

Syndromic X-Linked Intellectual Disability Type 11

X-Linked Mental Retardation Shashi Type

Mental Retardation, X-Linked, Syndromic 11

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Cone-Rod Dystrophy 16

Retinitis Pigmentosa 64

Retinal Dystrophy With Early Macular Involvement

CORD16

RP64

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

Oguchi Disease 1

Oguchi Disease-1

CSNBO1

Night Blindness, Congenital Stationary, Oguchi Type 1

Congenital Stationary Night Blindness Oguchi Type 1

Oguchi Disease

Oguchi Disease 2

Oguchi Disease-2

CSNBO2

Night Blindness, Congenital Stationary, Oguchi Type 2

Congenital Stationary Night Blindness Oguchi Type 2

Spherocytosis, Type 1

Hereditary Spherocytosis Type 1

SPH1

Hs1

Spherocytosis, Hereditary, 1

Sph

Hs

Hereditary Spherocytosis 1

Spherocytosis 1

Vitreoretinochoroidopathy

Autosomal Dominant Vitreoretinochoroidopathy

Advirc

Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract

Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos

Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 2

Vitreoretinochoroidopathy Dominant

VRCP

Vitreoretinochoroidopathy, Autosomal Dominant

Vrcp Autosomal Dominant

Vitreoretinochoroidopathy Autosomal Dominant With Nanophthalmos, Microcornea, Rod-Cone Dystrophy, Cataract And Posterior Staphyloma

Vitreoretinochoroidopathy With Microcornea-Glaucoma-Cataract

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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

Achromatopsia

Achm

Rod Monochromatism

Total Color Blindness

Rod Monochromacy

Monochromatism

Achromatism

Complete Or Incomplete Color Blindness

Pingelapese Blindness

Achromatopsia 1

Achromatopsia 2

Achromatopsia 3

Cone Dystrophy

Retinal Cone Dystrophy

Dystrophy, Cone

Cone Dystrophy 3

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

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 RAB28 VGNC VGNC:33635
Mus musculus RAB28 MGD MGI:1917285
Rattus norvegicus RAB28 RGD RGD:620891
Felis catus RAB28 VGNC VGNC:79983
Macaca mulatta RAB28 VGNC VGNC:97816
Canis familiaris RAB28 VGNC VGNC:45269