Gene
cep41
- ID
- ZDB-GENE-040704-35
- Name
- centrosomal protein 41
- Symbol
- cep41 Nomenclature History
- Previous Names
-
- tsga14
- zgc:91859
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Enables tubulin-glutamic acid ligase activity. Involved in cilium assembly and protein polyglutamylation. Acts upstream of or within angiogenesis; axoneme assembly; and neural crest cell migration. Predicted to be located in centriole and cilium. Predicted to be active in ciliary basal body. Is expressed in several structures, including Kupffer's vesicle; forerunner cell group; immature eye; nervous system; and pronephric duct. Human ortholog(s) of this gene implicated in Joubert syndrome 15. Orthologous to human CEP41 (centrosomal protein 41).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:91859 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 14 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
skk1 | Allele with one deletion | Unknown | Frameshift, Premature Stop | CRISPR |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-cep41 | Ki et al., 2019 | |
MO1-cep41 | N/A | (3) |
MO2-cep41 | N/A | Ki et al., 2019 |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Joubert syndrome 15 | Alliance | Joubert syndrome 15 | 614464 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Centrosomal protein 41 | Rhodanese-like domain | Rhodanese-like domain superfamily |
---|---|---|---|---|---|
UniProtKB:Q6GQN0 | InterPro | 374 |
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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 | CH211-194I19 | ZFIN Curated Data | |
Encodes | cDNA | MGC:91859 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001002194 (1) | 1253 nt | ||
Genomic | GenBank:CT033837 (1) | 65306 nt | ||
Polypeptide | UniProtKB:Q6GQN0 (1) | 374 aa |
- Ki, S.M., Kim, J.H., Won, S.Y., Oh, S.J., Lee, I.Y., Bae, Y.K., Chung, K.W., Choi, B.O., Park, B., Choi, E.J., Lee, J.E. (2019) CEP41-mediated ciliary tubulin glutamylation drives angiogenesis through AURKA-dependent deciliation. EMBO reports. 21(2):e48290
- Patowary, A., Won, S.Y., Oh, S.J., Nesbitt, R.R., Archer, M., Nickerson, D., Raskind, W.H., Bernier, R., Lee, J.E., Brkanac, Z. (2019) Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene. Translational psychiatry. 9:4
- Yao, Q., Wang, L., Mittal, R., Yan, D., Richmond, M.T., Denyer, S., Requena, T., Liu, K., Varshney, G.K., Lu, Z., Liu, X. (2019) Transcriptomic Analyses of Inner Ear Sensory Epithelia in Zebrafish. Anatomical record (Hoboken, N.J. : 2007). 303(3):527-543
- Lee, J.E., Silhavy, J.L., Zaki, M.S., Schroth, J., Bielas, S.L., Marsh, S.E., Olvera, J., Brancati, F., Iannicelli, M., Ikegami, K., Schlossman, A.M., Merriman, B., Attié-Bitach, T., Logan, C.V., Glass, I.A., Cluckey, A., Louie, C.M., Lee, J.H., Raynes, H.R., Rapin, I., Castroviejo, I.P., Setou, M., Barbot, C., Boltshauser, E., Nelson, S.F., Hildebrandt, F., Johnson, C.A., Doherty, D.A., Valente, E.M., and Gleeson, J.G. (2012) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nature Genetics. 44(2):193-199
- 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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