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  2. CHM - CHM Rab escort protein Gene

CHM - CHM Rab escort protein Gene

中文名称:CHM Rab 护送蛋白

种属: Homo sapiens

同用名: TCD; GGTA; REP-1; DXS540; HSD-32

基因 ID: 1121 | 基因类型: protein coding

关于 CHM

Cytogenetic location: Xq21.2 Genomic coordinates (GRCh38): X:85,861,180-86,047,558 (from NCBI)

This gene has 5 transcripts (splice variants), 204 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 4.7), thyroid (RPKM 4.5) and 25 other tissues.

功能概要

该基因编码 RAB 香叶基香叶基转移酶全酶的组分 A。在二聚体全酶中,该亚基结合未异戊二烯化的 Rab GTP 酶,然后将它们呈递给催化性 Rab GGT 酶亚基,用于香叶基香叶基转移反应。 Rab GTPases 需要在其 C 末端的一个或两个半胱氨酸残基上进行香叶基香叶基化,以定位到正确的细胞内膜。该基因的突变是无脉络膜血症的原因;也称为脉络膜营养不良 (TCD) 。这种 X 连锁疾病的特征是脉络膜、视网膜色素上皮细胞和视网膜的进行性营养不良。已发现该基因的可变剪接转录物变体。[RefSeq 提供,2016 年 3 月]

This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]

CHM 基因产物(6)

mRNA Protein Name
NM_000390.4 NP_000381.1 rab proteins geranylgeranyltransferase component A 1 isoform a
NM_001145414.4 NP_001138886.1 rab proteins geranylgeranyltransferase component A 1 isoform b
NM_001320959.1 NP_001307888.1 rab proteins geranylgeranyltransferase component A 1 isoform c
NM_001362517.1 NP_001349446.1 rab proteins geranylgeranyltransferase component A 1 isoform c
NM_001362518.2 NP_001349447.1 rab proteins geranylgeranyltransferase component A 1 isoform c
NM_001362519.1 NP_001349448.1 rab proteins geranylgeranyltransferase component A 1 isoform c
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 protein binding IPI
IPI: 通过物理相互作用推断
21905166 GOA
enables small GTPase binding IDA
IDA: 通过直接分析推断
7957092 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
7957092 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein geranylgeranylation IDA
IDA: 通过直接分析推断
7957092 GOA
involved in protein targeting to membrane IMP
IMP: 通过突变表型推断
7957092 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Rab-protein geranylgeranyltransferase complex IDA
IDA: 通过直接分析推断
7957092 GOA
located in cytosol IMP
IMP: 通过突变表型推断
7957092 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

CHM 蛋白结构

GDI

GDI: GDP dissociation inhibitor (6 - 66)

GDI

GDI: GDP dissociation inhibitor (219 - 524)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 653 a.a.
蛋白主名 其他名称

rab proteins geranylgeranyltransferase component A 1

CHM, Rab escort protein 1

CHM 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 CHM P24386 RABGGTA Homo sapiens Q92696
Anti Tag CoIP
35271311
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
Choroideremia

CHM

Tcd

Progressive Tapetochoroidal Dystrophy

Choroidal Sclerosis

Tapetochoroidal Dystrophy, Progressive

Progressive Choroidal Atrophy

Tapetochoroidal Dystrophy

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

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

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

Night Blindness

Nyctalopia

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Choroid Disease

Choroid Diseases

Abnormality Of The Choroid

Retinoschisis 1, X-Linked, Juvenile

Retinoschisis

X-Linked Retinoschisis

X-Linked Juvenile Retinoschisis

RS1

XLRS1

X-Linked Juvenile Retinoschisis 1

Xlrs

Retinoschisis, X-Linked

Rs

Congenital X-Linked Retinoschisis

Degenerative Retinoschisis

Juvenile Retinoschisis

Xjr

Retinoschisis Juvenile X-Linked 1

Retinoschisis, Juvenile, X-Linked

Retinoschisis, Degenerative

Retinal Degeneration

Degeneration Of Retina

Uveal Disease

Uveal Diseases

Gyrate Atrophy Of Choroid And Retina

Gyrate Atrophy

Ornithine Aminotransferase Deficiency

HOGA

Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina

Oat Deficiency

Okt Deficiency

Hyperornithinemia

Ornithine Keto Acid Aminotransferase Deficiency

Ornithine-Delta-Aminotransferase Deficiency

Gyrate Atrophy Of The Choroid And Retina

GACR

Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia

Gyrate Atrophy Of The Retina

Ornithinemia With Gyrate Atrophy

Ornithinemia

Fuchs Atrophia Gyrata Chorioideae Et Retinae

Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome

Gyrate Atrophy Of The Choroid And/Or Retina

Girate Atrophy Of The Retina

Ornithine Ketoacid Aminotransferase Deficiency

Atrophy, Gyrate, Of Choroid And Retina

Oliver-Mcfarlane Syndrome

Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome

OMCS

Long Eyelashes-Intellectual Disability Syndrome

Trichomegaly With Mental Retardation, Dwarfism, And Pigmentary Degeneration Of Retina

Eyelashes, Long, With Mental Retardation

Eyelashes Long Mental Retardation

Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration

Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration Of Retina

Eyelashes, Long With Intellectual Disability

Oliver Mcfarlane Syndrome

Congenital Trichomegaly, Pigmentary Retinal Degeneration, And Short Stature

Trichomegaly, Retina Pigmentary Degeneration, Dwarfism

Trichomegaly Retina Pigmentary Degeneration Dwarfism

Gaucher Disease, Type Ii

GD2

Gd Ii

Gaucher Disease, Acute Neuronopathic Type

Gaucher Disease Type 2

Gaucher Disease Type Ii

Gaucher'S Disease Type Ii

Infantile Cerebral Gaucher Disease

Acute Neuronopathic Gaucher Disease

Gd 2

Gaucher Disease, Infantile Cerebral

Gaucher Disease 2

Type 2 Gaucher Disease

Gaucher Disease, Type 2

Acquired Color Blindness

Acquired Color Vision Deficiencies

Acquired Color Vision Deficiency

Acquired Colour Blindness

Acquired Colour Vision Deficiencies

Acquired Colour Vision Deficiency

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Leber Optic Atrophy And Dystonia

LDYT

Marsden Syndrome

Leber Hereditary Optic Neuropathy With Dystonia

Leber Hereditary Optic Neuropathy And Dystonia

Familial Dystonia With Visual Failure And Striatal Lucencies

Dystonia, Familial, With Visual Failure And Striatal Lucencies

Leber Optic Atrophy With Dystonia

Dystonia Familial, With Visual Failure And Striatal Lucencies

Lhon And Dystonia

Leber'S Hereditary Optic Neuropathy With Dystonia

Macular Holes

Macular Hole

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

Sorsby Fundus Dystrophy

SFD

Fundus Dystrophy, Pseudoinflammatory, Of Sorsby

Sorsby'S Fundus Dystrophy

Macular Dystrophy, Hemorrhagic

Hemorrhagic Macular Dystrophy

Pseudoinflammatory Fundus Dystrophy Of Sorsby

Sorsby'S Pseudoinflammatory Macular Dystrophy

Sorsby Pseudoinflammatory Fundus Dystrophy

Dystrophy, Fundus, Sorsby

Stargardt Disease

Stargardt Disease 1

Stargardt Macular Dystrophy

Stargardt Disease-1

Juvenile Onset Macular Degeneration

Stargardt Macular Degeneration

Juvenile Macular Degeneration

Macular Dystrophy With Flecks, Type 1

Stgd

Fundus Flavimaculatus

Stargardt 1

Stargardts Disease

Macular Degeneration, Age-Related, 1

Macular Degeneration

Age-Related Macular Degeneration

Macular Degeneration, Age-Related

Age Related Macular Degeneration

Age Related Macular Degeneration 1

ARMD1

Senile Macular Degeneration

Maculopathy, Age-Related, 1

Macular Degeneration, Age-Related, Reduced Risk Of

Age Related Maculopathy 1

Age Related Maculopathies

Age Related Maculopathy

Senile Macular Retinal Degeneration

Macular Degeneration Of Retina

Age-Related Maculopathy

Amd

Armd

Age-Related Maculopathy, Susceptibility To

Maculopathy Age-Related

Macular Degeneration, Age-Related, 1, Susceptibility To

Maculopathy, Age-Related

Macular Degeneration, Age-Related, Type 1

Macular Degeneration, Age-Related, 2

Achromatopsia

Achm

Rod Monochromatism

Total Color Blindness

Rod Monochromacy

Monochromatism

Achromatism

Complete Or Incomplete Color Blindness

Pingelapese Blindness

Achromatopsia 1

Achromatopsia 2

Achromatopsia 3

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy

Leber Hereditary Optic Neuropathy

LHON

Leber'S Hereditary Optic Neuropathy

Leber Optic Atrophy, Susceptibility To

Leber'S Optic Atrophy

LOAM

Loas

Leber'S Disease

Leber'S Optic Neuropathy

Optic Atrophy, Hereditary, Leber

Lhon, Modifier Of

Optic Atrophy, Leber Type

Hereditary Optic Neuroretinopathy

Leber Hereditary Optic Atrophy

Loa

Optic Atrophy Leber Type

Leber Hereditary Optic Neuropathy, Modifier

Leber Hereditary Optic Neuropathy Susceptibility

Modifier Of Leber Hereditary Optic Neuropathy

Lebers Hereditary Optic Neuropathy

Leber Congenital Amaurosis

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes

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
Rattus norvegicus CHM RGD RGD:2340
Canis familiaris CHM VGNC VGNC:39220
Mus musculus CHM MGD MGI:892979
Macaca mulatta CHM VGNC VGNC:71040
Bos taurus CHM VGNC VGNC:27297
Felis catus CHM VGNC VGNC:60861
Others CHM NCBI