Gene
cep104
- ID
- ZDB-GENE-060503-195
- Name
- centrosomal protein 104
- Symbol
- cep104 Nomenclature History
- Previous Names
-
- si:ch211-147a11.5
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Acts upstream of or within cilium assembly; cranial nerve development; and heart looping. Predicted to be active in cilium. Human ortholog(s) of this gene implicated in Joubert syndrome 25 and autosomal recessive intellectual developmental disorder 77. Orthologous to human CEP104 (centrosomal protein 104).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Di Stazio et al., 2020
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Frikstad et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-cep104 | Frikstad et al., 2019 | |
| CRISPR2-cep104 | Frikstad et al., 2019 | |
| MO1-cep104 | N/A | Frikstad et al., 2019 |
| MO2-cep104 | N/A | Frikstad et al., 2019 |
1 - 4 of 4
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive intellectual developmental disorder 77 | Alliance | Intellectual developmental disorder, autosomal recessive 77 | 619988 |
| Joubert syndrome 25 | Alliance | Joubert syndrome 25 | 616781 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
| Protein | Additional Resources | Length |
|---|---|---|
| UniProtKB:A0A8M1RIT0 | InterPro | 972 |
| UniProtKB:A0A8M2BEF8 | InterPro | 973 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cep104-201
(1)
|
Ensembl | 2,883 nt | ||
| mRNA |
cep104-202
(1)
|
Ensembl | 2,970 nt | ||
| ncRNA |
cep104-002
(1)
|
Ensembl | 720 nt | ||
| ncRNA |
cep104-003
(1)
|
Ensembl | 779 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-147A11 | ZFIN Curated Data |
1 - 1 of 1
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_003199077 (1) | |||
| Genomic | GenBank:CR352301 (1) | 176256 nt | ||
| Polypeptide | UniProtKB:A0A8M2BEF8 (1) | 973 aa |
| Species | Symbol | Chromosome | Accession # | Evidence |
|---|---|---|---|---|
| Human | CEP104 | 1 | Nucleotide sequence comparison (1) Conserved genome location (synteny) (2) Amino acid sequence comparison (2) Functional complementation (1) Phylogenetic tree (1) | |
| Mouse | Cep104 | 4 | Phylogenetic tree (1) Conserved genome location (synteny) (1) Amino acid sequence comparison (2) |
- Di Stazio, M., Morgan, A., Brumat, M., Bassani, S., Dell'Orco, D., Marino, V., Garagnani, P., Giuliani, C., Gasparini, P., Girotto, G. (2020) New age-related hearing loss candidate genes in humans: an ongoing challenge. Gene. 742:144561
- Frikstad, K.M., Molinari, E., Thoresen, M., Ramsbottom, S.A., Hughes, F., Letteboer, S.J.F., Gilani, S., Schink, K.O., Stokke, T., Geimer, S., Pedersen, L.B., Giles, R.H., Akhmanova, A., Roepman, R., Sayer, J.A., Patzke, S. (2019) A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling. Cell Reports. 28:1907-1922.e6
- Shi, W., Shao, T., Li, J.Y., Fan, D.D., Lin, A.F., Xiang, L.X., Shao, J.Z. (2019) BTLA-HVEM Checkpoint Axis Regulates Hepatic Homeostasis and Inflammation in a ConA-Induced Hepatitis Model in Zebrafish. Journal of immunology (Baltimore, Md. : 1950). 203(9):2425-2442
- 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
1 - 4 of 4
Show