Gene
dtnbp1a
- ID
- ZDB-GENE-040426-1036
- Name
- dystrobrevin binding protein 1a
- Symbol
- dtnbp1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to be involved in several processes, including anterograde synaptic vesicle transport; platelet dense granule organization; and regulation of synaptic vesicle exocytosis. Predicted to be located in several cellular components, including cytoplasmic vesicle membrane; endoplasmic reticulum; and postsynaptic density. Predicted to be part of BLOC-1 complex. Predicted to be active in neuron projection; plasma membrane; and synaptic vesicle membrane. Is expressed in several structures, including epidermis; neural crest; periderm; pigment cell; and retina. Used to study Hermansky-Pudlak syndrome. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 7 and schizophrenia. Orthologous to human DTNBP1 (dystrobrevin binding protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:56462 (13 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Chen et al., 2018
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Hermansky-Pudlak syndrome 7 | Alliance | Hermansky-Pudlak syndrome 7 | 614076 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Hermansky-Pudlak syndrome | dtnbp1aihb819/ihb819 | standard conditions | Chen et al., 2018 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR007531 | Dysbindin |
1 - 1 of 1
Domain Details Per Protein
| Protein | Additional Resources | Length | Dysbindin |
|---|---|---|---|
| UniProtKB:E9QDJ9 | InterPro | 206 | |
| UniProtKB:A0A8M2B4X1 | InterPro | 362 | |
| UniProtKB:A0A8M2B4E5 | InterPro | 361 | |
| UniProtKB:A0A8M2B510 | InterPro | 363 | |
| UniProtKB:A0A8M2B4E7 | InterPro | 204 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
dtnbp1a-201
(1)
|
Ensembl | 2,027 nt | ||
| mRNA |
dtnbp1a-203
(1)
|
Ensembl | 885 nt | ||
| mRNA |
dtnbp1a-205
(1)
|
Ensembl | 880 nt | ||
| mRNA |
dtnbp1a-207
(1)
|
Ensembl | 741 nt | ||
| ncRNA |
dtnbp1a-003
(1)
|
Ensembl | 804 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-25O19 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:56462 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:174073 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_201134 (1) | 1794 nt | ||
| Genomic | GenBank:CR391941 (2) | 187002 nt | ||
| Polypeptide | UniProtKB:A0A8M2B510 (1) | 363 aa |
- Vauti, F., Vögele, V., Deppe, I., Hahnenstein, S.T., Köster, R.W. (2021) Structural Analysis and Spatiotemporal Expression of Atxn1 Genes in Zebrafish Embryos and Larvae. International Journal of Molecular Sciences. 22(21):
- Chen, T., Song, G., Yang, H., Mao, L., Cui, Z., Huang, K. (2018) Development of the Swimbladder Surfactant System and Biogenesis of Lysosome-Related Organelles Is Regulated by BLOS1 in Zebrafish. Genetics. 208(3):1131-1146
- 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
- Hsu, C.C., Pai, W.Y., Lai, C.Y., Lu, M.W., and Her, G.M. (2013) Genetic characterization and in vivo image analysis of novel zebrafish Danio rerio pigment mutants. Journal of Fish Biology. 82(5):1671-1683
- Hensley, M.R., Emran, F., Bonilla, S., Zhang, L., Zhong, W., Grosu, P., Dowling, J.E., and Leung, Y.F. (2011) Cellular Expression of Smarca4 (Brg1)-regulated Genes in Zebrafish Retinas. BMC Developmental Biology. 11(1):45
- Braasch, I., Brunet, F., Volff, J.N., and Schartl, M. (2009) Pigmentation pathway evolution after whole-genome duplication in fish. Genome biology and evolution. 1:479-493
- 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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