Gene
adcy6a
- ID
- ZDB-GENE-060221-1
- Name
- adenylate cyclase 6a
- Symbol
- adcy6a Nomenclature History
- Previous Names
-
- adcy6
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable adenylate cyclase activity. Acts upstream of or within myelination in peripheral nervous system. Predicted to be located in membrane. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in lethal congenital contracture syndrome. Orthologous to human ADCY6 (adenylate cyclase 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Baird et al., 2024
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Lethal congenital contracture syndrome 8 | 616287 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018297 | Adenylyl cyclase class-4/guanylyl cyclase, conserved site |
| Domain | IPR001054 | Adenylyl cyclase class-3/4/guanylyl cyclase |
| Domain | IPR009398 | Adenylate cyclase, conserved domain |
| Domain | IPR032628 | Adenylate cyclase, N-terminal |
| Family | IPR030672 | Adenylate cyclase |
| Homologous_superfamily | IPR029787 | Nucleotide cyclase |
Domain Details Per Protein
| Protein | Additional Resources | Length | Adenylate cyclase | Adenylate cyclase, conserved domain | Adenylate cyclase, N-terminal | Adenylyl cyclase class-3/4/guanylyl cyclase | Adenylyl cyclase class-4/guanylyl cyclase, conserved site | Nucleotide cyclase |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9Q3J4 | InterPro | 901 | ||||||
| UniProtKB:A0A8M6Z3Y2 | InterPro | 1203 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
adcy6a-201
(1)
|
Ensembl | 4,066 nt | ||
| mRNA |
adcy6a-202
(1)
|
Ensembl | 3,441 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-90A13 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-207A6 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_021474498 (1) | 9050 nt | ||
| Genomic | GenBank:BX897727 (2) | 236277 nt | ||
| Polypeptide | UniProtKB:A0A8M6Z3Y2 (1) | 1203 aa |
- Baird, D.A., Mubeen, H., Doganli, C., Miltenburg, J.B., Thomsen, O.K., Ali, Z., Naveed, T., Rehman, A.U., Baig, S.M., Christensen, S.T., Farooq, M., Larsen, L.A. (2024) Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients. Human genetics. 143(11):1323-1339
- Zhang, L., Wan, M., Tohti, R., Jin, D., Zhong, T.P. (2022) Requirement of Zebrafish Adcy3a and Adcy5 in Melanosome Dispersion and Melanocyte Stripe Formation. International Journal of Molecular Sciences. 23(22):
- 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
- 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
- Laquérriere, A., Maluenda, J., Camus, A., Fontenas, L., Dieterich, K., Nolent, F., Zhou, J., Monnier, N., Latour, P., Gentil, D., Héron, D., Desguerres, I., Landrieu, P., Beneteau, C., Delaporte, B., Bellesme, C., Baumann, C., Capri, Y., Goldenberg, A., Lyonnet, S., Bonneau, D., Estournet, B., Quijano-Roy, S., Francannet, C., Odent, S., Saint-Frison, M.H., Sigaudy, S., Figarella-Branger, D., Gelot, A., Mussini, J.M., Lacroix, C., Drouin-Garraud, V., Malinge, M.C., Attié-Bitach, T., Bessieres, B., Bonniere, M., Encha-Razavi, F., Beaufrère, A.M., Khung-Savatovsky, S., Perez, M.J., Vasiljevic, A., Mercier, S., Roume, J., Trestard, L., Saugier-Veber, P., Cordier, M.P., Layet, V., Legendre, M., Vigouroux-Castera, A., Lunardi, J., Bayes, M., Jouk, P.S., Rigonnot, L., Granier, M., Sternberg, D., Warszawski, J., Gut, I., Gonzales, M., Tawk, M., and Melki, J. (2014) Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Human molecular genetics. 23(9):2279-89
- Sato, Y., Hashiguchi, Y., and Nishida, M. (2009) Temporal pattern of loss/persistence of duplicate genes involved in signal transduction and metabolic pathways after teleost-specific genome duplication. BMC Evolutionary Biology. 9:127
- Lo, J., Lee, S., Xu, M., Liu, F., Ruan, H., Eun, A., He, Y., Ma, W., Wang, W., Wen, Z., and Peng, J. (2003) 15,000 unique zebrafish EST clusters and their future use in microarray for profiling gene expression patterns during embryogenesis. Genome research. 13(3):455-466
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