1. Gene
  2. GOLGB1 - golgin B1 Gene

GOLGB1 - golgin B1 Gene

中文名称:高尔金 B1

种属: Homo sapiens

同用名: GCP; GCP372; GOLIM1

基因 ID: 2804 | 基因类型: protein coding

关于 GOLGB1

Cytogenetic location: 3q13.33 Genomic coordinates (GRCh38): 3:121,663,201-121,749,966 (from NCBI)

This gene has 58 transcripts (splice variants) and 204 orthologues. Ubiquitous expression in thyroid (RPKM 16.1), prostate (RPKM 15.7) and 25 other tissues.

功能概要

启用 RNA 结合活性。参与蛋白质定位到中心粒周围物质。位于高尔基体和内质网-高尔基体中间室。 [由基因组资源联盟提供,2022 年 4 月]

Enables RNA binding activity. Involved in protein localization to pericentriolar material. Located in Golgi apparatus and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Apr 2022]

GOLGB1 基因产物(8)

mRNA Protein Name
NM_001256486.2 NP_001243415.1 golgin subfamily B member 1 isoform 1
NM_001256487.2 NP_001243416.1 golgin subfamily B member 1 isoform 3
NM_001256488.2 NP_001243417.1 golgin subfamily B member 1 isoform 4
NM_001366282.2 NP_001353211.1 golgin subfamily B member 1 isoform 5
NM_001366283.2 NP_001353212.1 golgin subfamily B member 1 isoform 6
NM_001366284.2 NP_001353213.1 golgin subfamily B member 1 isoform 7
NM_001389631.1 NP_001376560.1 golgin subfamily B member 1 isoform 8
NM_004487.5 NP_004478.3 golgin subfamily B member 1 isoform 2
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
14980500 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein localization to pericentriolar material IMP
IMP: 通过突变表型推断
25205765 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
22572157 GOA
located in endoplasmic reticulum-Golgi intermediate compartment IDA
IDA: 通过直接分析推断
15308636 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

golgin subfamily B member 1

372 kDa Golgi complex-associated protein

GOLGB1 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
GOLGB1 Q14789 PFN2 Homo sapiens P35080 16169070
种属内
GOLGB1 Q14789 PFN2 Homo sapiens P35080 16169070
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
Immunodeficiency 47

Congenital Disorder Of Glycosylation Type Ii

CDG2E

Congenital Disorder Of Glycosylation Type Iie

IMD47

Cdg2s

Cdg Iis

Cdgiis

Immunodeficiency And Hepatopathy With Or Without Neurologic Features

Congenital Disorder Of Glycosylation, Type Ii

CDG1I

Congenital Disorder Of Glycosylation, Type Iie

Cdg Iie

Congenital Disorder Of Glycosylation Type 2e

Congenital Disorder Of Glycosylation, Type Iis

Cdg Ii

Cdgii

Cdgiie

Carbohydrate Deficient Glycoprotein Syndrome Type Iie

Cdg Syndrome Type Iie

Congenital Disorder Of Glycosylation Ii

Congenital Disorder Of Glycosylation 1i

Cdg-Iie

Alg2-Cdg

Cdg-Ii

Glycosylation, Congenital Disorder Of, Type Ii

Cdgiide

Congenital Disorder Of Glycosylation Type Iis

Cog7-Cdg

Cdg Syndrome Type Ii

Carbohydrate Deficient Glycoprotein Syndrome Type Ii

Congenital Disorder Of Glycosylation Type 1i

Mannosyltransferase 2 Deficiency

Congenital Disorder Of Glycosylation 2e

Congenital Disorder Of Glycosylation 2s

Congenital Disorders Of Glycosylation Type Ii

Glycosylation, Congenital Disorder Of, Type Iie

Immunodeficiency, Type 47

Congenital Disorder Of Glycosylation Type 2a

Neuropathy, Hereditary Sensory And Autonomic, Type Iib

HSAN2B

Hereditary Sensory And Autonomic Neuropathy Type 2b

Hereditary Sensory And Autonomic Neuropathy Type Iib

Neuropathy, Hereditary Sensory And Autonomic, Type 2b

Neuropathy, Hereditary Sensory And Autonomic, 2b

Neuropathy, Sensory And Autonomic, Hereditary, Type Iib

Neuropathy, Hereditary Sensory And Autonomic, Type Iia

Hereditary Sensory And Autonomic Neuropathy Type 2

Hsan2

HSAN2A

Morvan Disease

Hereditary Sensory And Autonomic Neuropathy Type Ii

Neurogenic Acroosteolysis

Hsan Iia

Hsn2a

Hsn Iia

Neuropathy, Progressive Sensory, Of Children

Neuropathy, Congenital Sensory

Neuropathy, Hereditary Sensory And Autonomic, Type Ii

Hereditary Sensory And Autonomic Neuropathy Type 2a

Hereditary Sensory And Autonomic Neuropathy Type Iia

Hsanii

Congenital Sensory Neuropathy

Hsan Type Ii

Morvan Syndrome

Neuropathy, Hereditary Sensory And Autonomic, Type 2a

Morvan'S Disease

Neuropathy, Hereditary Sensory, Type Iia

Acroosteolysis, Neurogenic

Acroosteolysis, Giaccai Type

Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive

Hereditary Sensory Autonomic Neuropathy Type 2

Giaccai Type Acroosteolysis

Hereditary Sensory Neuropathy Type 2

Hereditary Sensory Radicular Neuropathy, Recessive Form

Hsan2b

Hsan2c

Hsan2d

Hsn Type Ii

Autosomal Recessive Sensory Radicular Neuropathy

Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome

Morvan Fibrillary Chorea

Neuropathy, Hereditary Sensory And Autonomic, 2a

Acroosteolysis Giaccai Type

Hereditary Sensory Neuropathy Type Iia

Hereditary Sensory Radicular Neuropathy Autosomal Recessive

Progressive Sensory Neuropathy Of Children

Neuropathy Congenital Sensory

Charcot-Marie-Tooth Disease

Neuropathy, Sensory And Autonomic, Hereditary, Type Iia

Hereditary Sensory Autonomic Neuropathy, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii

Sensory Neuropathy, Hereditary

Neuropathy, Hereditary Sensory And Autonomic, Type Iib

Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Osmed

Otospondylomegaepiphyseal Dysplasia

Chondrodystrophy With Sensorineural Deafness

Nance-Insley Syndrome

Nance-Sweeney Chondrodysplasia

OSMEDB

Insley-Astley Syndrome

Osmed Syndrome

Mega-Epiphyseal Dwarfism

Weissenbacher-Zweymuller Syndrome, Formerly

Wzs, Formerly

Nance Sweeney Chondrodysplasia

Oto-Spondylo-Mega-Epiphyseal Dysplasia

Oto-Spondylo-Megaepiphyseal Dysplasia

Megaepiphyseal Dwarfism

Achondrogenesis

Achondrogenesis Syndrome

Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation

CDG1N

Congenital Disorders Of Glycosylation

Cdg In

Cdgin

Congenital Disorder Of Glycosylation 1n

Carbohydrate-Deficient Glycoprotein Syndrome

Cdg

Rft1-Cdg

Cdg-In

Congenital Disorder Of Glycosylation Type In

Carbohydrate Deficient Glycoprotein Syndrome

Cdg Syndrome

Congenital Disorder Of Glycosylation In

Carbohydrate-Deficient Glycoprotein Syndromes

Cdg Syndrome Type In

Carbohydrate Deficient Glycoprotein Syndrome Type In

Congenital Disorder Of Glycosylation Type 1n

Man5glcnac2-Pp-Dol Flippase Deficiency

Glycosylation, Congenital Disorder Of

Glycosylation, Congenital Disorder Of, Type In

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
Canis familiaris GOLGB1 VGNC VGNC:41343
Rattus norvegicus GOLGB1 RGD RGD:708429
Mus musculus GOLGB1 MGD MGI:1099447
Macaca mulatta GOLGB1 VGNC VGNC:73109
Bos taurus GOLGB1 VGNC VGNC:29489
Felis catus GOLGB1 VGNC VGNC:62641