Details for: GGCX

Gene ID: 2677

Symbol: GGCX

Ensembl ID: ENSG00000115486

Description: gamma-glutamyl carboxylase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 2.41
    Marker Score: 2578
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.44
    Marker Score: 3039
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.35
    Marker Score: 787.5
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.29
    Marker Score: 5054
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.23
    Marker Score: 1491
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.2
    Marker Score: 5033
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.2
    Marker Score: 1260
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.14
    Marker Score: 1834
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.14
    Marker Score: 360
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.13
    Marker Score: 1657
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1.09
    Marker Score: 5720
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.07
    Marker Score: 1427
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.06
    Marker Score: 1423
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.04
    Marker Score: 2374
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.02
    Marker Score: 4414
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71693
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47918
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30390
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2395
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 479
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 434
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2699
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.9
    Marker Score: 932
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.9
    Marker Score: 2937
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.88
    Marker Score: 1365
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.88
    Marker Score: 2154
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5293
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.87
    Marker Score: 1086
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.86
    Marker Score: 5615
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.85
    Marker Score: 13364
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 305
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.84
    Marker Score: 5417.5
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.84
    Marker Score: 4781
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.83
    Marker Score: 235
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.83
    Marker Score: 1952
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.8
    Marker Score: 1039
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.79
    Marker Score: 6802
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1263
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.78
    Marker Score: 311
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.78
    Marker Score: 712
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.77
    Marker Score: 223
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.77
    Marker Score: 489.5
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.76
    Marker Score: 579
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.76
    Marker Score: 505
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.75
    Marker Score: 280
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.74
    Marker Score: 7030
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.73
    Marker Score: 45095
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.73
    Marker Score: 3939
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.73
    Marker Score: 774
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.72
    Marker Score: 1151
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.72
    Marker Score: 493
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 372
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.7
    Marker Score: 388
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.7
    Marker Score: 238
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.7
    Marker Score: 375
  • Cell Name: ionocyte (CL0005006)
    Fold Change: 0.7
    Marker Score: 212
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.69
    Marker Score: 342
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.69
    Marker Score: 223
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.69
    Marker Score: 170
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.69
    Marker Score: 2537
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2872
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.68
    Marker Score: 1502.5
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.68
    Marker Score: 156
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.67
    Marker Score: 335
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.67
    Marker Score: 610
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.67
    Marker Score: 251
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.66
    Marker Score: 439
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.65
    Marker Score: 1364
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.65
    Marker Score: 806
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.65
    Marker Score: 156
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.65
    Marker Score: 356
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.65
    Marker Score: 313.5
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.64
    Marker Score: 481.5
  • Cell Name: NKp44-negative group 3 innate lymphoid cell, human (CL0001080)
    Fold Change: 0.64
    Marker Score: 141
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.64
    Marker Score: 737
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.64
    Marker Score: 422
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.64
    Marker Score: 5490.5
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.64
    Marker Score: 149
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.63
    Marker Score: 6418
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.63
    Marker Score: 610
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.63
    Marker Score: 427
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.63
    Marker Score: 2426
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.62
    Marker Score: 21596
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.62
    Marker Score: 556
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.62
    Marker Score: 253.5
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.62
    Marker Score: 1563
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.62
    Marker Score: 158
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.62
    Marker Score: 1831
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.61
    Marker Score: 623
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.61
    Marker Score: 5339.5
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.61
    Marker Score: 192
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.61
    Marker Score: 612
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.61
    Marker Score: 12960
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.61
    Marker Score: 1073
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.6
    Marker Score: 281.5
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.6
    Marker Score: 207
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.6
    Marker Score: 143
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.6
    Marker Score: 1603.5
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.59
    Marker Score: 1555

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Other Information

**Key characteristics** * Gene name: GGCX * Ensembl ID: ENSG00000115486 * Protein name: Gamma-glutamyl carboxylase * Protein length: 137 amino acids * Subcellular location: Membrane **Pathways and functions** * Gamma-glutamyl carboxylase is involved in the blood coagulation cascade, where it catalyzes the carboxylation of f9 to produce f10, which is essential for the activation of factor IX. * It also plays a role in the defective factor ix (DFIX) causes hemophilia b disorder, where mutations in the GGCX gene can lead to a deficiency of FIX. * The enzyme is also involved in the defects of contact activation system (cas) and kallikrein/kinin system (kks) pathways, where it helps to regulate blood volume and pressure. * Additionally, GGCX is involved in the degradation of damaged proteins and the maintenance of cellular homeostasis. **Clinical significance** * Mutations in the GGCX gene have been linked to several diseases, including hemophilia b, DFIX deficiency, and other coagulation disorders. * Inhibition of GGCX activity has been shown to be effective in treating these diseases. **Additional notes** * GGCX is a highly conserved enzyme with important roles in various organisms. * It is a key regulator of blood volume and pressure and is involved in the regulation of inflammation. * Mutations in the GGCX gene have been linked to a number of human diseases, underscoring its importance in human health.

Genular Protein ID: 3309924266

Symbol: VKGC_HUMAN

Name: Vitamin K-dependent gamma-carboxylase

UniProtKB Accession Codes:

P38435 B4DMC5 E9PEE1 Q14415 Q6GU45

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEBI 8 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 8 DrugCentral 1 EC 1 EMBL 6 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 7 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 2 RefSeq 2 Rhea 4 SAM 1 SIGNOR 1 SMART 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1749935

Title: Cloning and expression of the cDNA for human gamma-glutamyl carboxylase.

PubMed ID: 1749935

DOI: 10.1126/science.1749935

PubMed ID: 9166845

Title: Genomic sequence and transcription start site for the human gamma-glutamyl carboxylase.

PubMed ID: 9166845

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10910912

Title: A topological study of the human gamma-glutamyl carboxylase.

PubMed ID: 10910912

PubMed ID: 11570873

Title: A novel fluorescence assay to study propeptide interaction with gamma-glutamyl carboxylase.

PubMed ID: 11570873

DOI: 10.1021/bi010332w

PubMed ID: 12963724

Title: Determination of disulfide bond assignment of human vitamin K-dependent gamma-glutamyl carboxylase by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.

PubMed ID: 12963724

DOI: 10.1074/jbc.m309164200

PubMed ID: 16011462

Title: The vitamin K-dependent carboxylase.

PubMed ID: 16011462

DOI: 10.1146/annurev.nutr.25.050304.092713

PubMed ID: 17073445

Title: Bronsted analysis reveals Lys218 as the carboxylase active site base that deprotonates vitamin K hydroquinone to initiate vitamin K-dependent protein carboxylation.

PubMed ID: 17073445

DOI: 10.1021/bi0609523

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 9845520

Title: A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors.

PubMed ID: 9845520

PubMed ID: 11071668

Title: Novel mutation in the gamma-glutamyl carboxylase gene resulting in congenital combined deficiency of all vitamin K-dependent blood coagulation factors.

PubMed ID: 11071668

PubMed ID: 10934213

Title: Expression and characterization of the naturally occurring mutation L394R in human gamma-glutamyl carboxylase.

PubMed ID: 10934213

DOI: 10.1074/jbc.m006808200

PubMed ID: 15287948

Title: Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors.

PubMed ID: 15287948

DOI: 10.1111/j.1365-2141.2004.05071.x

PubMed ID: 17110937

Title: Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.

PubMed ID: 17110937

DOI: 10.1038/sj.jid.5700610

Sequence Information:

  • Length: 758
  • Mass: 87561
  • Checksum: 720D5B08E9B558C8
  • Sequence:
    • MAVSAGSART SPSSDKVQKD KAELISGPRQ DSRIGKLLGF EWTDLSSWRR LVTLLNRPTD 
PASLAVFRFL FGFLMVLDIP QERGLSSLDR KYLDGLDVCR FPLLDALRPL PLDWMYLVYT 
IMFLGALGMM LGLCYRISCV LFLLPYWYVF LLDKTSWNNH SYLYGLLAFQ LTFMDANHYW 
SVDGLLNAHR RNAHVPLWNY AVLRGQIFIV YFIAGVKKLD ADWVEGYSME YLSRHWLFSP 
FKLLLSEELT SLLVVHWGGL LLDLSAGFLL FFDVSRSIGL FFVSYFHCMN SQLFSIGMFS 
YVMLASSPLF CSPEWPRKLV SYCPRRLQQL LPLKAAPQPS VSCVYKRSRG KSGQKPGLRH 
QLGAAFTLLY LLEQLFLPYS HFLTQGYNNW TNGLYGYSWD MMVHSRSHQH VKITYRDGRT 
GELGYLNPGV FTQSRRWKDH ADMLKQYATC LSRLLPKYNV TEPQIYFDIW VSINDRFQQR 
IFDPRVDIVQ AAWSPFQRTS WVQPLLMDLS PWRAKLQEIK SSLDNHTEVV FIADFPGLHL 
ENFVSEDLGN TSIQLLQGEV TVELVAEQKN QTLREGEKMQ LPAGEYHKVY TTSPSPSCYM 
YVYVNTTELA LEQDLAYLQE LKEKVENGSE TGPLPPELQP LLEGEVKGGP EPTPLVQTFL 
RRQQRLQEIE RRRNTPFHER FFRFLLRKLY VFRRSFLMTC ISLRNLILGR PSLEQLAQEV 
TYANLRPFEA VGELNPSNTD SSHSNPPESN PDPVHSEF

Genular Protein ID: 1485034695

Symbol: A0A8I5QJA4_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A8I5QJA4

Database IDs:

ARBA 1 CTD 1 EMBL 4 EPD 1 Ensembl 2 GO 1 GeneTree 1 HGNC 1 InterPro 1 MaxQB 1 NCBI Taxonomy 1 PANTHER 2 Pfam 1 Proteomes 2 RefSeq 1 SAM 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

Sequence Information:

  • Length: 132
  • Mass: 14904
  • Checksum: EBF377130AFFA592
  • Sequence:
    • MAVSAGSART SPSSDKVQKD KAELISGPRQ DSRIGKLLGF EWTDLSSWRR LVTLLNRPTD 
PASLAVFRFL FGFLMVLDIP QERGLSSLDR KYLDGLDVCR FPLLDALRPL PLDWMYLVYT 
IMFLGEGNCG KY

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.