1. Gene
  2. GGCX - gamma-glutamyl carboxylase Gene

GGCX - gamma-glutamyl carboxylase Gene

中文名称:γ-谷氨酰羧化酶

种属: Homo sapiens

同用名: VKCFD1

基因 ID: 2677 | 基因类型: protein coding

关于 GGCX

Cytogenetic location: 2p11.2 Genomic coordinates (GRCh38): 2:85,544,720-85,561,493 (from NCBI)

This gene has 25 transcripts (splice variants), 205 orthologues and is associated with 6 phenotypes. Ubiquitous expression in liver (RPKM 18.5), thyroid (RPKM 16.4) and 25 other tissues.

功能概要

该基因编码粗面内质网的完整膜蛋白,可将维生素 K 依赖性蛋白的谷氨酸残基羧化为 γ 羧基谷氨酸,这是其活性所需的修饰。维生素 K 依赖性蛋白质底物具有结合酶的前肽,二氧化碳、二氧化碳和还原型维生素 K 作为共底物。维生素 K 依赖性蛋白质影响许多生理过程,包括凝血、预防血管钙化和炎症。该基因的等位基因变异与弹性假黄瘤样疾病相关,并伴有多种凝血因子缺乏症。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 8 月]

This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

GGCX 基因产物(3)

mRNA Protein Name
NM_000821.7 NP_000812.2 vitamin K-dependent gamma-carboxylase isoform 1
NM_001142269.4 NP_001135741.1 vitamin K-dependent gamma-carboxylase isoform 2
NM_001311312.2 NP_001298241.1 vitamin K-dependent gamma-carboxylase isoform 3
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 gamma-glutamyl carboxylase activity IDA
IDA: 通过直接分析推断
17073445 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in vitamin K metabolic process IDA
IDA: 通过直接分析推断
17073445 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
10910912 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

GGCX 蛋白结构

VKG_Carbox

VKG_Carbox: Vitamin K-dependent gamma-carboxylase (65 - 504)

  • 0
  • 200
  • 400
  • 600
  • 758 a.a.
蛋白主名 其他名称

vitamin K-dependent gamma-carboxylase

peptidyl-glutamate 4-carboxylase

关联疾病

疾病名称 别名
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency

Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency

Pxe-Like Disorder With Multiple Coagulation Factor Deficiency

Pxe-Like Syndrome

Pseudoxanthoma Elasticum-Like Syndrome

PXEL-MCFD

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1

VKCFD1

Combined Deficiency Of Vitamin K-Dependent Clotting Factors 1

Vitamin K-Dependent Coagulation Defect

Multiple Coagulation Factor Deficiency Iii

Mcfd3

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 1

Vkcfd

Familial Multiple Coagulation Factor Deficiency Iii

Fmfd Iii

Factors Ii, Vii, Ix, And X, Combined Deficiency Of

Glutamic Acid, Deficient Gamma-Carboxylation Of

Hereditary Combined Deficiency Of Vitamin K-Dependent Clotting Factors

Hereditary Combined Deficiency Of Factors Ii, Vii, Ix And X

Vkcfd

Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa

Pxe-Like Syndrome With Retinitis Pigmentosa

Pseudoxanthoma Elasticum

PXE

Gronblad-Strandberg Syndrome

Pseudoxanthoma Elasticum, Modifier Of Severity Of

Gronblad-Strandberg-Touraine Syndrome

Gronblad Strandberg Syndrome

Groenblad-Strandberg Syndrome

Nevus Elasticus

Pxe - [Pseudoxanthoma Elasticum]

Coumarin Resistance

Warfarin Resistance

Warfarin Sensitivity

Coumadin Sensitivity

Warfarin Response

Poor Metabolism Of Coumarin

Coumarin, Poor Metabolism Of

CMRES

Urolithiasis
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 2

VKCFD2

Combined Deficiency Of Vitamin K-Dependent Clotting Factors 2

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2

Hemophilia B

Christmas Disease

Factor Ix Deficiency

F9 Deficiency

HEMB

Plasma Thromboplastin Component Deficiency

Congenital Factor Ix Deficiency

Mild Hemophilia B

Severe Hemophilia B

Congenital Factor Ix Disorder

Deficiency, Functional Factor Ix

Hem B

Mild Congenital F9 Deficiency

Mild Congenital Factor Ix Deficiency

Moderate Hemophilia B

Moderate Congenital F9 Deficiency

Moderate Congenital Factor Ix Deficiency

Severe Congenital F9 Deficiency

Severe Congenital Factor Ix Deficiency

Bleeding Disorder In Hemophilia B Carriers

Congenital F9 Deficiency

Recessive X-Linked Hemophilia B

Angioid Streaks
Vitamin K Deficiency Bleeding

Vitamin K Deficiency

Deficiency Of Vitamin K

Vitamin K

Vitamin K Deficiency Hemorrhagic Disease

Cutis Laxa

Generalized Elastolysis

Loose Skin

Dermatolysis

Dermatomegaly

Cutis Laxa Syndrome

Calcification Of Joints And Arteries

Hereditary Arterial And Articular Multiple Calcification Syndrome

CALJA

Arterial Calcification Due To Cd73 Deficiency

Arterial Calcification Due To Deficiency Of Cd73

Acdc

Arterial Calcification And Distal Joint Calcification

Arterial Calcification Due To Deficiency Of Cd73:Acdc

Calcification Of Joints And Arteries

Calja

Deafness, Autosomal Recessive 88

DFNB88

Autosomal Recessive Nonsyndromic Deafness 88

Autosomal Recessive Deafness 88

Deafness, Autosomal Recessive, 88

Deafness, Autosomal Recessive, Type 88

Prothrombin Deficiency

Factor Ii Deficiency

Hypoprothrombinemia

Dysprothrombinemia

Deficiency, Prothrombin

Inherited Factor Ii Deficiency

Hereditary Factor Ii Deficiency Disease

Arterial Calcification Of Infancy

Idiopathic Infantile Arterial Calcification

Generalized Arterial Calcification Of Infancy

Iiac

Occlusive Infantile Arteriopathy

Infantile Arteriosclerosis

Gaci

Idiopathic Obliterative Arteriopathy

Generalized Arterial Calcification In Infancy

Arteriopathia Calcificans Infantum

Diffuse Arterial Calcifying Elastopathy Of Infancy

Infantile Calcifying Arteriopathy

Medial Coronary Sclerosis Of Infancy

Coronary Sclerosis, Medial, Of Infancy

Calcification, Arterial, Generalized, Infancy

Calciphylaxis

Idiopathic Calciphylaxis

Meckel Syndrome, Type 7

Meckel Syndrome 7

Nphp3-Related Meckel-Like Syndrome

MKS7

Goldston Syndrome

Meckel Syndrome Type 7

Meckel-Like Syndrome Type 1

Renal-Hepatic-Pancreatic Dysplasia-Dandy-Walker Cysts Syndrome

Renal Hepatic Pancreatic Dysplasia Dandy Walker Cyst

Renal-Hepatic-Pancreatic Dysplasia With Dandy-Walker Cyst

Meckel-Gruber Syndrome, Type 7

Dandy-Walker Cyst With Renal-Hepatic-Pancreatic Dysplasia

Cutis Laxa, Autosomal Dominant 1

Cutis Laxa, Autosomal Dominant

Autosomal Dominant Cutis Laxa

ADCL1

Adcl

Autosomal Dominant Cutis Laxa 1

Cutis Laxa, Autosomal Dominant, 1

Cutis Laxa, Autosomal Dominant, Type 1

Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

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
Rattus norvegicus GGCX RGD RGD:68383
Felis catus GGCX VGNC VGNC:62536
Bos taurus GGCX VGNC VGNC:29339
Mus musculus GGCX MGD MGI:1927655
Macaca mulatta GGCX VGNC VGNC:72920
Canis familiaris GGCX VGNC VGNC:41197
Others GGCX NCBI