GGCX - gamma-glutamyl carboxylase Gene

Also Known as VKCFD1

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 2677

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables gamma-glutamyl carboxylase activity	IDA IDA: Inferred from direct assay	17073445	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in vitamin K metabolic process	IDA IDA: Inferred from direct assay	17073445	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
is active in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	10910912	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GGCX Protein Structure

VKG_Carbox

0
200
400
600
758 a.a.

Protein Preferred Names	Protein Names
vitamin K-dependent gamma-carboxylase	peptidyl-glutamate 4-carboxylase

関連疾患

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS05398	GGCX Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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