ZFIN is now using GRCz12tu for Genomic Data
Gene
ccdc47
- ID
- ZDB-GENE-040912-15
- Name
- coiled-coil domain containing 47
- Symbol
- ccdc47 Nomenclature History
- Previous Names
-
- zgc:92099
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable calcium ion binding activity; protein folding chaperone; and ribosome binding activity. Predicted to be involved in multi-pass transmembrane protein insertion into ER membrane. Predicted to be located in endoplasmic reticulum membrane. Predicted to be part of multi-pass translocon complex. Predicted to be active in endoplasmic reticulum. Orthologous to human CCDC47 (coiled-coil domain containing 47).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:92099 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa20044 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-ccdc47 | Varshney et al., 2015 | |
| CRISPR2-ccdc47 | Varshney et al., 2015 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Trichohepatoneurodevelopmental syndrome | 618268 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR012879 | PAT complex subunit CCDC47 |
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Domain Details Per Protein
| Protein | Additional Resources | Length | PAT complex subunit CCDC47 |
|---|---|---|---|
| UniProtKB:Q66I12 | InterPro | 486 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ccdc47-201
(1)
|
Ensembl | 2,461 nt | ||
| mRNA |
ccdc47-202
(1)
|
Ensembl | 3,814 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-194J22 | ||
| Encodes | cDNA | MGC:92099 | ZFIN Curated Data |
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| Type | Accession # | Genome Assembly | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001004551 (1) | 2424 nt | ||
| Genomic | GenBank:CU062431 (1) | 183293 nt | ||
| Polypeptide | UniProtKB:Q66I12 (1) | 486 aa |
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Smith, L.C., Clark, J.C., Bisesi, J.H., Ferguson, P.L., Sabo-Attwood, T. (2016) Differential recruitment of co-regulatory proteins to the human estrogen receptor 1 in response to xenoestrogens. Comparative biochemistry and physiology. Part D, Genomics & proteomics. 19:159-73
- 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
- Leong, I.U., Skinner, J.R., Shelling, A.N., and Love, D.R. (2010) Identification and expression analysis of kcnh2 genes in the zebrafish. Biochemical and Biophysical Research Communications. 396(4):817-824
- Hassel, D., Scholz, E.P., Trano, N., Friedrich, O., Just, S., Meder, B., Weiss, D.L., Zitron, E., Marquart, S., Vogel, B., Karle, C.A., Seemann, G., Fishman, M.C., Katus, H.A., and Rottbauer, W. (2008) Deficient zebrafish ether-à-go-go-related gene channel gating causes short-QT syndrome in zebrafish reggae mutants. Circulation. 117(7):866-875
- Valencia, C.A., Bailey, C., and Liu, R. (2007) Novel zebrafish caspase-3 substrates. Biochemical and Biophysical Research Communications. 361(2):311-316
- 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
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