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GGCX (gamma-glutamyl carboxylase)

Gene

2677

Gamma-glutamyl carboxylase

GGCX

VKCFD1

2p11.2

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]

Show/Hide all(13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11676382	C>G	Drug-response	Intron variant, genic downstream transcript variant
rs28928872	C>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs121909675	A>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121909676	C>A,G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121909677	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121909678	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121909679	C>A,G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121909680	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs121909681	G>A,C	Pathogenic	Intron variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121909682	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121909683	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant, genic downstream transcript variant
rs121909684	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs786205096	C>A	Pathogenic	Splice acceptor variant

Show/Hide all(160)

miRTarBase ID	miRNA	Experiments	Reference
MIRT523559	hsa-miR-3149	PAR-CLIP	23446348
MIRT523560	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT523560	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT523561	hsa-miR-4775	PAR-CLIP	23446348
MIRT523562	hsa-miR-19b-2-5p	PAR-CLIP	23446348
MIRT523562	hsa-miR-19b-2-5p	PAR-CLIP	22012620
MIRT523563	hsa-miR-19b-1-5p	PAR-CLIP	23446348
MIRT523563	hsa-miR-19b-1-5p	PAR-CLIP	22012620
MIRT523564	hsa-miR-6832-5p	PAR-CLIP	23446348
MIRT523564	hsa-miR-6832-5p	PAR-CLIP	22012620
MIRT523565	hsa-miR-19a-5p	PAR-CLIP	23446348
MIRT523565	hsa-miR-19a-5p	PAR-CLIP	22012620
MIRT523566	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT523566	hsa-miR-193b-5p	PAR-CLIP	22012620
MIRT523567	hsa-miR-6770-5p	PAR-CLIP	23446348
MIRT523567	hsa-miR-6770-5p	PAR-CLIP	22012620
MIRT523568	hsa-miR-3179	PAR-CLIP	23446348
MIRT523568	hsa-miR-3179	PAR-CLIP	22012620
MIRT523569	hsa-miR-3925-5p	PAR-CLIP	23446348
MIRT523569	hsa-miR-3925-5p	PAR-CLIP	22012620
MIRT523570	hsa-miR-3123	PAR-CLIP	23446348
MIRT523570	hsa-miR-3123	PAR-CLIP	22012620
MIRT523571	hsa-miR-3154	PAR-CLIP	23446348
MIRT523571	hsa-miR-3154	PAR-CLIP	22012620
MIRT523572	hsa-miR-590-3p	PAR-CLIP	23446348
MIRT523573	hsa-miR-3936	PAR-CLIP	23446348
MIRT523573	hsa-miR-3936	PAR-CLIP	22012620
MIRT537160	hsa-miR-4776-3p	PAR-CLIP	22012620
MIRT537161	hsa-miR-4659b-5p	PAR-CLIP	22012620
MIRT537162	hsa-miR-4659a-5p	PAR-CLIP	22012620
MIRT537163	hsa-miR-5590-5p	PAR-CLIP	22012620
MIRT545629	hsa-miR-3190-3p	PAR-CLIP	21572407
MIRT545630	hsa-miR-6851-5p	PAR-CLIP	21572407
MIRT545630	hsa-miR-6851-5p	PAR-CLIP	27292025
MIRT545631	hsa-miR-3689d	PAR-CLIP	21572407
MIRT545631	hsa-miR-3689d	PAR-CLIP	27292025
MIRT545632	hsa-miR-6077	PAR-CLIP	21572407
MIRT545633	hsa-miR-7-5p	PAR-CLIP	21572407
MIRT545634	hsa-miR-6840-3p	PAR-CLIP	21572407
MIRT545634	hsa-miR-6840-3p	PAR-CLIP	27292025
MIRT545635	hsa-miR-6134	PAR-CLIP	21572407
MIRT545635	hsa-miR-6134	PAR-CLIP	27292025
MIRT545636	hsa-miR-665	PAR-CLIP	21572407
MIRT545636	hsa-miR-665	PAR-CLIP	27292025
MIRT545637	hsa-miR-4459	PAR-CLIP	21572407
MIRT545637	hsa-miR-4459	PAR-CLIP	27292025
MIRT545638	hsa-miR-6771-3p	PAR-CLIP	21572407
MIRT612974	hsa-miR-8055	HITS-CLIP	23824327
MIRT612975	hsa-miR-580-3p	HITS-CLIP	23824327
MIRT612976	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT616106	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT616107	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT616108	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT616109	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT616110	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT616111	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT616112	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT616113	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT623811	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT623812	hsa-miR-145-3p	HITS-CLIP	23824327
MIRT623813	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT623814	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT623815	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT623816	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT623817	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT638652	hsa-miR-7977	HITS-CLIP	23824327
MIRT638653	hsa-miR-3656	HITS-CLIP	23824327
MIRT638654	hsa-miR-3975	HITS-CLIP	23824327
MIRT638655	hsa-miR-3621	HITS-CLIP	23824327
MIRT638656	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT638657	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT638658	hsa-miR-4284	HITS-CLIP	23824327
MIRT638659	hsa-miR-564	HITS-CLIP	23824327
MIRT638660	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT638661	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT638662	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT638663	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT638664	hsa-miR-376c-5p	HITS-CLIP	23824327
MIRT638665	hsa-miR-376b-5p	HITS-CLIP	23824327
MIRT638666	hsa-miR-3165	HITS-CLIP	23824327
MIRT638667	hsa-miR-4736	HITS-CLIP	23824327
MIRT638668	hsa-miR-3665	HITS-CLIP	23824327
MIRT638669	hsa-miR-940	HITS-CLIP	23824327
MIRT638669	hsa-miR-940	PAR-CLIP	27292025
MIRT638670	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT638670	hsa-miR-6893-5p	PAR-CLIP	27292025
MIRT638671	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT638671	hsa-miR-6808-5p	PAR-CLIP	27292025
MIRT638672	hsa-miR-3714	HITS-CLIP	23824327
MIRT657874	hsa-miR-3974	HITS-CLIP	23824327
MIRT657874	hsa-miR-3974	HITS-CLIP	23313552
MIRT672497	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT672498	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT672499	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT672500	hsa-miR-3122	HITS-CLIP	23824327
MIRT672501	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT672502	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT672503	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT672504	hsa-miR-3689c	HITS-CLIP	23824327
MIRT672505	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT672506	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT672507	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT672508	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT672509	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT672510	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT672511	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT672512	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT672513	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT672514	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT672515	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT672516	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT703300	hsa-miR-548s	HITS-CLIP	23313552
MIRT703301	hsa-miR-3926	HITS-CLIP	23313552
MIRT703302	hsa-miR-769-5p	HITS-CLIP	23313552
MIRT703303	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT703304	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT703305	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT761533	hsa-miR-1247-3p	PAR-CLIP	27292025
MIRT761837	hsa-miR-1273e	PAR-CLIP	27292025
MIRT761891	hsa-miR-1273f	PAR-CLIP	27292025
MIRT763048	hsa-miR-1827	PAR-CLIP	27292025
MIRT763286	hsa-miR-1910-3p	PAR-CLIP	27292025
MIRT764085	hsa-miR-2467-3p	PAR-CLIP	27292025
MIRT764171	hsa-miR-25-3p	PAR-CLIP	27292025
MIRT765118	hsa-miR-3160-3p	PAR-CLIP	27292025
MIRT765586	hsa-miR-32-5p	PAR-CLIP	27292025
MIRT765908	hsa-miR-3612	PAR-CLIP	27292025
MIRT766191	hsa-miR-363-3p	PAR-CLIP	27292025
MIRT766470	hsa-miR-3664-3p	PAR-CLIP	27292025
MIRT766630	hsa-miR-367-3p	PAR-CLIP	27292025
MIRT767397	hsa-miR-377-5p	PAR-CLIP	27292025
MIRT768123	hsa-miR-4257	PAR-CLIP	27292025
MIRT768635	hsa-miR-4325	PAR-CLIP	27292025
MIRT768668	hsa-miR-4327	PAR-CLIP	27292025
MIRT769001	hsa-miR-4433a-3p	PAR-CLIP	27292025
MIRT770154	hsa-miR-4537	PAR-CLIP	27292025
MIRT770325	hsa-miR-455-3p	PAR-CLIP	27292025
MIRT770494	hsa-miR-4633-3p	PAR-CLIP	27292025
MIRT771186	hsa-miR-4695-5p	PAR-CLIP	27292025
MIRT771548	hsa-miR-4722-5p	PAR-CLIP	27292025
MIRT772079	hsa-miR-4768-3p	PAR-CLIP	27292025
MIRT773327	hsa-miR-510-5p	PAR-CLIP	27292025
MIRT773364	hsa-miR-512-5p	PAR-CLIP	27292025
MIRT774829	hsa-miR-558	PAR-CLIP	27292025
MIRT774932	hsa-miR-566	PAR-CLIP	27292025
MIRT775528	hsa-miR-6086	PAR-CLIP	27292025
MIRT775738	hsa-miR-6089	PAR-CLIP	27292025
MIRT776263	hsa-miR-6499-3p	PAR-CLIP	27292025
MIRT776488	hsa-miR-6500-5p	PAR-CLIP	27292025
MIRT776666	hsa-miR-650	PAR-CLIP	27292025
MIRT776784	hsa-miR-6511a-5p	PAR-CLIP	27292025
MIRT777123	hsa-miR-6516-5p	PAR-CLIP	27292025
MIRT777268	hsa-miR-652-3p	PAR-CLIP	27292025
MIRT779272	hsa-miR-6789-3p	PAR-CLIP	27292025
MIRT779409	hsa-miR-6799-5p	PAR-CLIP	27292025
MIRT780730	hsa-miR-6874-5p	PAR-CLIP	27292025
MIRT780828	hsa-miR-6880-5p	PAR-CLIP	27292025
MIRT782006	hsa-miR-7703	PAR-CLIP	27292025
MIRT782682	hsa-miR-92a-3p	PAR-CLIP	27292025
MIRT782721	hsa-miR-92b-3p	PAR-CLIP	27292025

Show/Hide all(10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006464	Process	Cellular protein modification process	TAS	1749935
GO:0007596	Process	Blood coagulation	TAS	9845520
GO:0008488	Function	Gamma-glutamyl carboxylase activity	IBA	21873635
GO:0008488	Function	Gamma-glutamyl carboxylase activity	TAS
GO:0016020	Component	Membrane	TAS	1749935
GO:0016021	Component	Integral component of membrane	IEA
GO:0017187	Process	Peptidyl-glutamic acid carboxylation	IBA	21873635
GO:0017187	Process	Peptidyl-glutamic acid carboxylation	TAS
GO:0019842	Function	Vitamin binding	IBA	21873635

MIM	HGNC	e!Ensembl
137167	4247	ENSG00000115486

Protein

UniProt ID

P38435

Protein name

Vitamin K-dependent gamma-carboxylase (EC 4.1.1.90) (Gamma-glutamyl carboxylase) (Peptidyl-glutamate 4-carboxylase) (Vitamin K gamma glutamyl carboxylase)

Protein function

Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin K to vitamin K epoxide.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05090	VKG_Carbox	66 → 504	Vitamin K-dependent gamma-carboxylase	Family

Sequence

MAVSAGSARTSPSSDKVQKDKAELISGPRQDSRIGKLLGFEWTDLSSWRRLVTLLNRPTD
PASLAVFRFLFGFLMVLDIPQERGLSSLDRKYLDGLDVCRFPLLDALRPLPLDWMYLVYT
IMFLGALGMMLGLCYRISCVLFLLPYWYVFLLDKTSWNNHSYLYGLLAFQLTFMDANHYW
SVDGLLNAHRRNAHVPLWNYAVLRGQIFIVYFIAGVKKLDADWVEGYSMEYLSRHWLFSP
FKLLLSEELTSLLVVHWGGLLLDLSAGFLLFFDVSRSIGLFFVSYFHCMNSQLFSIGMFS
YVMLASSPLFCSPEWPRKLVSYCPRRLQQLLPLKAAPQPSVSCVYKRSRGKSGQKPGLRH
QLGAAFTLLYLLEQLFLPYSHFLTQGYNNWTNGLYGYSWDMMVHSRSHQHVKITYRDGRT
GELGYLNPGVFTQSRRWKDHADMLKQYATCLSRLLPKYNVTEPQIYFDIWVSINDRFQQR
IFDPRVDIVQAAWSPFQRTSWVQPLLMDLSPWRAKLQEIKSSLDNHTEVVFIADFPGLHL
ENFVSEDLGNTSIQLLQGEVTVELVAEQKNQTLREGEKMQLPAGEYHKVYTTSPSPSCYM
YVYVNTTELALEQDLAYLQELKEKVENGSETGPLPPELQPLLEGEVKGGPEPTPLVQTFL
RRQQRLQEIERRRNTPFHERFFRFLLRKLYVFRRSFLMTCISLRNLILGRPSLEQLAQEV
TYANLRPFEAVGELNPSNTDSSHSNPPESNPDPVHSEF

Sequence length

758

Interactions

View interactions

	KEGG		Reactome
	Ubiquinone and other terpenoid-quinone biosynthesis Metabolic pathways Biosynthesis of cofactors		Gamma-carboxylation of protein precursors

Associated diseases

Show/Hide Causal Diseases (5)

Causal
Disease name	Disease term	dbSNP ID	References
Cutis laxa	Cutis Laxa	rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811, rs-1, rs80356756, rs367543007, rs80356751, rs80356753, rs193302868, rs193302867, rs193302869, rs193302870, rs193302864, rs193302866, rs1566294545, rs397514683, rs794729201, rs752669339, rs863225044, rs863225045, rs886039351, rs745590426, rs144346996, rs1060505031, rs1028534806, rs1060505037, rs139751598, rs762218403, rs755867227, rs1555042727, rs888015688, rs1591064775, rs1598358440, rs752297179, rs1180294322
Rod-cone dystrophy	Rod-Cone Dystrophy	rs267606641, rs199476133, rs193302849, rs777668842, rs775518991, rs752300607, rs142759730, rs756225251, rs536742386, rs1588830568, rs778907433
Combined deficiency of vitamin k-dependent clotting factors	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, Hereditary combined deficiency of vitamin K-dependent clotting factors	rs72547528, rs121909675, rs28928872, rs121909676, rs786205096	15287948, 10934213, 11071668, 16720838, 21435120, 9845520
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	28714975, 26343387
Body skin hyperlaxity	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	rs121909677, rs121909678, rs121909679, rs121909680, rs-1, rs121909681, rs121909682, rs121909683

Show/Hide Unknown Diseases (8)

Unknown
Disease name	Disease term	dbSNP ID	References
Atherosclerosis	Atherosclerosis	rs699947, rs59439148
Angioid streaks	Angioid Streaks
Blood coagulation disorders	Blood Coagulation Disorders		19141161
Nyctalopia	Nyctalopia
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency	Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency		17110937, 19116367
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
Strabismus	Strabismus
Urolithiasis	Urolithiasis		9471053

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