KEGG   Homo sapiens (human): 2677
Entry
2677              CDS       T01001                                 

Gene name
GGCX, VKCFD1
Definition
(RefSeq) gamma-glutamyl carboxylase
  KO
K10106  vitamin K-dependent gamma-carboxylase [EC:4.1.1.90]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00130  Ubiquinone and other terpenoid-quinone biosynthesis
hsa01100  Metabolic pathways
Disease
H00560  Pseudoxanthoma elasticum
H00995  Combined deficiency of vitamin K-dependent clotting factors
H01205  Coumarin resistance
Drug target
Anisindione: D07457
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00130 Ubiquinone and other terpenoid-quinone biosynthesis
    2677 (GGCX)
Enzymes [BR:hsa01000]
 4. Lyases
  4.1  Carbon-carbon lyases
   4.1.1  Carboxy-lyases
    4.1.1.90  peptidyl-glutamate 4-carboxylase
     2677 (GGCX)
SSDB
Motif
Pfam: VKG_Carbox Cupin_2 Ppnp
Other DBs
NCBI-GeneID: 2677
NCBI-ProteinID: NP_000812
OMIM: 137167
HGNC: 4247
Ensembl: ENSG00000115486
Vega: OTTHUMG00000130173
Pharos: P38435(Tclin)
UniProt: P38435
Position
2p11.2
AA seq 758 aa
MAVSAGSARTSPSSDKVQKDKAELISGPRQDSRIGKLLGFEWTDLSSWRRLVTLLNRPTD
PASLAVFRFLFGFLMVLDIPQERGLSSLDRKYLDGLDVCRFPLLDALRPLPLDWMYLVYT
IMFLGALGMMLGLCYRISCVLFLLPYWYVFLLDKTSWNNHSYLYGLLAFQLTFMDANHYW
SVDGLLNAHRRNAHVPLWNYAVLRGQIFIVYFIAGVKKLDADWVEGYSMEYLSRHWLFSP
FKLLLSEELTSLLVVHWGGLLLDLSAGFLLFFDVSRSIGLFFVSYFHCMNSQLFSIGMFS
YVMLASSPLFCSPEWPRKLVSYCPRRLQQLLPLKAAPQPSVSCVYKRSRGKSGQKPGLRH
QLGAAFTLLYLLEQLFLPYSHFLTQGYNNWTNGLYGYSWDMMVHSRSHQHVKITYRDGRT
GELGYLNPGVFTQSRRWKDHADMLKQYATCLSRLLPKYNVTEPQIYFDIWVSINDRFQQR
IFDPRVDIVQAAWSPFQRTSWVQPLLMDLSPWRAKLQEIKSSLDNHTEVVFIADFPGLHL
ENFVSEDLGNTSIQLLQGEVTVELVAEQKNQTLREGEKMQLPAGEYHKVYTTSPSPSCYM
YVYVNTTELALEQDLAYLQELKEKVENGSETGPLPPELQPLLEGEVKGGPEPTPLVQTFL
RRQQRLQEIERRRNTPFHERFFRFLLRKLYVFRRSFLMTCISLRNLILGRPSLEQLAQEV
TYANLRPFEAVGELNPSNTDSSHSNPPESNPDPVHSEF
NT seq 2277 nt   +upstreamnt  +downstreamnt
atggcggtgtctgccgggtccgcgcggacctcgcccagctcagataaagtacagaaagac
aaggctgaactgatctcagggcccaggcaggacagccgaatagggaaactcttgggtttt
gagtggacagatttgtccagttggcggaggctggtgaccctgctgaatcgaccaacggac
cctgcaagcttagctgtctttcgttttctttttgggttcttgatggtgctagacattccc
caggagcgggggctcagctctctggaccggaaataccttgatgggctggatgtgtgccgc
ttccccttgctggatgccctacgcccactgccacttgactggatgtatcttgtctacacc
atcatgtttctgggggcactgggcatgatgctgggcctgtgctaccggataagctgtgtg
ttattcctgctgccatactggtatgtgtttctcctggacaagacatcatggaacaaccac
tcctatctgtatgggttgttggcctttcagctaacattcatggatgcaaaccactactgg
tctgtggacggtctgctgaatgcccataggaggaatgcccacgtgcccctttggaactat
gcagtgctccgtggccagatcttcattgtgtacttcattgcgggtgtgaaaaagctggat
gcagactgggttgaaggctattccatggaatatttgtcccggcactggctcttcagtccc
ttcaaactgctgttgtctgaggagctgactagcctgctggtcgtgcactggggtgggctg
ctgcttgacctctcagctggtttcctgctcttttttgatgtctcaagatccattggcctg
ttctttgtgtcctacttccactgcatgaattcccagcttttcagcattggtatgttctcc
tacgtcatgctggccagcagccctctcttctgctcccctgagtggcctcggaagctggtg
tcctactgcccccgaaggttgcaacaactgttgcccctcaaggcagcccctcagcccagt
gtttcctgtgtgtataagaggagccggggcaaaagtggccagaagccagggctgcgccat
cagctgggagctgccttcaccctgctctacctcctggagcagctattcctgccctattct
cattttctcacccagggctataacaactggacaaatgggctgtatggctattcctgggac
atgatggtgcactcccgctcccaccagcacgtgaagatcacctaccgtgatggccgcact
ggcgaactgggctaccttaaccctggggtatttacacagagtcggcgatggaaggatcat
gcagacatgctgaagcaatatgccacttgcctgagccgcctgcttcccaagtataatgtc
actgagccccagatctactttgatatttgggtctccatcaatgaccgcttccagcagagg
atttttgaccctcgtgtggacatcgtgcaggccgcttggtcaccctttcagcgcacatcc
tgggtgcaaccactcttgatggacctgtctccctggagggccaagttacaggaaatcaag
agcagcctagacaaccacactgaggtggtcttcattgcagatttccctggactgcacttg
gagaattttgtgagtgaagacctgggcaacactagcatccagctgctgcagggggaagtg
actgtggagcttgtggcagaacagaagaaccagactcttcgagagggagaaaaaatgcag
ttgcctgctggtgagtaccataaggtgtatacgacatcacctagcccttcttgctacatg
tacgtctatgtcaacactacagagcttgcactggagcaagacctggcatatctgcaagaa
ttaaaggaaaaggtggagaatggaagtgaaacagggcctctacccccagagctgcagcct
ctgttggaaggggaagtaaaagggggccctgagccaacacctctggttcagacctttctt
agacgccaacaaaggctccaggagattgaacgccggcgaaatactcctttccatgagcga
ttcttccgcttcttgttgcgaaagctctatgtctttcgccgcagcttcctgatgacttgt
atctcacttcgaaatctgatattaggccgtccttccctggagcagctggcccaggaggtg
acttatgcaaacttgagaccctttgaggcagttggagaactgaatccctcaaacacggat
tcttcacattctaatcctcctgagtcaaatcctgatcctgtccactcagagttctga

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