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  2. GNGT1 - G protein subunit gamma transducin 1 Gene

GNGT1 - G protein subunit gamma transducin 1 Gene

中文名称:G 蛋白亚基γ转导蛋白 1

种属: Homo sapiens

同用名: GNG1; HG3G1

基因 ID: 2792 | 基因类型: protein coding

关于 GNGT1

Cytogenetic location: 7q21.3 Genomic coordinates (GRCh38): 7:93,906,567-93,911,265 (from NCBI)

This gene has 5 transcripts (splice variants), 143 orthologues and 11 paralogues. Restricted expression toward placenta (RPKM 1.6).

功能概要

该基因编码转导蛋白的 γ 亚基,转导蛋白是一种存在于视杆外段的鸟嘌呤核苷酸结合蛋白 (G 蛋白) 。转导蛋白,也称为 GMPase,介导视紫红质对环 GTP 特异性 (鸟苷一磷酸) 磷酸二酯酶的激活。[RefSeq 提供,2016 年 7 月]

This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin. [provided by RefSeq, Jul 2016]

GNGT1 基因产物(2)

mRNA Protein Name
NM_001329426.2 NP_001316355.1 guanine nucleotide-binding protein G(T) subunit gamma-T1 precursor
NM_021955.5 NP_068774.1 guanine nucleotide-binding protein G(T) subunit gamma-T1 precursor

GNGT1 蛋白结构

G-gamma

G-gamma: GGL domain (10 - 73)

  • 0
  • 74 a.a.
蛋白主名 其他名称

guanine nucleotide-binding protein G(T) subunit gamma-T1

guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1

重组 GNGT1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76369 GNGT1 Protein, Human (His) P63211 (P2-C71) ≥95%

关联疾病

疾病名称 别名
Night Blindness, Congenital Stationary, Autosomal Dominant 2

Congenital Stationary Night Blindness Autosomal Dominant 2

CSNBAD2

Hemeralopia

Night Blindness, Congenital Stationary, Rambusch Type

Rambusch Type Congenital Stationary Night Blindness

Congenital Stationary Night Blindness Rambusch Type

Hemeralopia Congenital Essential

Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 2

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

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

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 GNGT1 VGNC VGNC:73098
Mus musculus GNGT1 MGD MGI:109165
Felis catus GNGT1 VGNC VGNC:62624
Bos taurus GNGT1 VGNC VGNC:29470
Rattus norvegicus GNGT1 RGD RGD:1595475
Canis familiaris GNGT1 VGNC VGNC:41324
Others GNGT1 NCBI