Gene
tubgcp4
- ID
- ZDB-GENE-081022-124
- Name
- tubulin gamma complex component 4
- Symbol
- tubgcp4 Nomenclature History
- Previous Names
-
- zgc:194561
- zgc:194580
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable gamma-tubulin binding activity. Predicted to contribute to microtubule minus-end binding activity. Acts upstream of or within retinal cone cell differentiation and retinal rod cell differentiation. Predicted to be located in cytoplasm and microtubule cytoskeleton. Predicted to be part of gamma-tubulin complex. Human ortholog(s) of this gene implicated in microcephaly and chorioretinopathy 3. Orthologous to human TUBGCP4 (tubulin gamma complex component 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Scheidecker et al., 2015
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Scheidecker et al., 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa2377 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa8846 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa21080 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa41027 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-tubgcp4 | N/A | Scheidecker et al., 2015 |
| MO2-tubgcp4 | N/A | Scheidecker et al., 2015 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| microcephaly and chorioretinopathy 3 | Alliance | Microcephaly and chorioretinopathy, autosomal recessive, 3 | 616335 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR040457 | Gamma tubulin complex component, C-terminal |
| Domain | IPR041470 | Gamma tubulin complex component protein, N-terminal |
| Family | IPR007259 | Gamma-tubulin complex component protein |
| Homologous_superfamily | IPR042241 | Gamma-tubulin complex component, C-terminal domain superfamily |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Gamma tubulin complex component, C-terminal | Gamma-tubulin complex component, C-terminal domain superfamily | Gamma-tubulin complex component protein | Gamma tubulin complex component protein, N-terminal |
|---|---|---|---|---|---|---|
| UniProtKB:B3DIU9 | InterPro | 668 | ||||
| UniProtKB:A0AB32TU29 | InterPro | 621 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tubgcp4-201
(1)
|
Ensembl | 5,829 nt | ||
| mRNA |
tubgcp4-202
(1)
|
Ensembl | 3,185 nt | ||
| ncRNA |
tubgcp4-002
(1)
|
Ensembl | 436 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 |
|---|---|---|---|---|
| Encodes | cDNA | MGC:194561 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:194580 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001135130 (1) | 2200 nt | ||
| Genomic | GenBank:CU469544 (1) | 69896 nt | ||
| Polypeptide | UniProtKB:B3DIU9 (1) | 668 aa |
- Covello, G., Rossello, F.J., Filosi, M., Gajardo, F., Duchemin, A.L., Tremonti, B.F., Eichenlaub, M., Polo, J.M., Powell, D., Ngai, J., Allende, M.L., Domenici, E., Ramialison, M., Poggi, L. (2020) Transcriptome analysis of the zebrafish atoh7-/- Mutant, lakritz, highlights Atoh7-dependent genetic networks with potential implications for human eye diseases. FASEB bioAdvances. 2:434-448
- 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
- Scheidecker, S., Etard, C., Haren, L., Stoetzel, C., Hull, S., Arno, G., Plagnol, V., Drunat, S., Passemard, S., Toutain, A., Obringer, C., Koob, M., Geoffroy, V., Marion, V., Strähle, U., Ostergaard, P., Verloes, A., Merdes, A., Moore, A.T., Dollfus, H. (2015) Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy. American journal of human genetics. 96(4):666-74
- 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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