Gene
ggcx
- ID
- ZDB-GENE-030826-27
- Name
- gamma-glutamyl carboxylase
- Symbol
- ggcx Nomenclature History
- Previous Names
-
- cb751 (1)
- si:ch1073-230p18.3
- zgc:158736
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to enable gamma-glutamyl carboxylase activity and vitamin binding activity. Predicted to be involved in vitamin K metabolic process. Predicted to act upstream of or within peptidyl-glutamic acid carboxylation. Predicted to be located in endoplasmic reticulum membrane. Is expressed in several structures, including axis; digestive system; fin; otic placode; and polster. Human ortholog(s) of this gene implicated in combined deficiency of vitamin K-dependent clotting factors 1. Orthologous to human GGCX (gamma-glutamyl carboxylase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb751 (20 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| combined deficiency of vitamin K-dependent clotting factors 1 | Alliance | Vitamin K-dependent clotting factors, combined deficiency of, 1 | 277450 |
| Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency | 610842 |
1 - 2 of 2
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | HTTM domain | HTTM-like | RmlC-like cupin domain superfamily | RmlC-like jelly roll fold | Vitamin K-dependent gamma-carboxylase | Vitamin K-dependent gamma-carboxylase, lumenal domain |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M1RIV5 | InterPro | 770 |
1 - 1 of 1
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | Fosmid | CH1073-230P18 | ZFIN Curated Data | |
| Encodes | EST | cb751 | Thisse et al., 2001 | |
| Encodes | cDNA | MGC:158736 | ZFIN Curated Data |
1 - 3 of 3
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001080677 (1) | 1368 nt | ||
| Genomic | GenBank:CU633977 (2) | 36310 nt | ||
| Polypeptide | UniProtKB:A0A8M1RIV5 (1) | 770 aa |
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Fernández, I., Vijayakumar, P., Marques, C., Cancela, M.L., Gavaia, P.J., Laizé, V. (2015) Zebrafish vitamin K epoxide reductases: expression in vivo, along extracellular matrix mineralization and under phylloquinone and warfarin in vitro exposure. Fish physiology and biochemistry. 41(3):745-59
- Mackay, E.W., Apschner, A., Schulte-Merker, S. (2015) Vitamin K reduces hypermineralisation in zebrafish models of PXE and GACI. Development (Cambridge, England). 142:1095-101
- Fernández, I., Santos, A., Cancela, M.L., Laizé, V., Gavaia, P.J. (2014) Warfarin, a potential pollutant in aquatic environment acting through Pxr signaling pathway and γ-glutamyl carboxylation of vitamin K-dependent proteins. Environmental pollution (Barking, Essex : 1987). 194C:86-95
- Lu, H., Ma, J., Yang, Y., Shi, W., and Luo, L. (2013) EpCAM Is an Endoderm-Specific Wnt Derepressor that Licenses Hepatic Development. Developmental Cell. 24(5):543-553
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
1 - 6 of 6
Show