Gene
ap1b1
- ID
- ZDB-GENE-061025-1
- Name
- adaptor related protein complex 1 subunit beta 1
- Symbol
- ap1b1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable clathrin binding activity. Acts upstream of or within several processes, including detection of mechanical stimulus involved in sensory perception; hair cell differentiation; and regulation of sodium ion transmembrane transporter activity. Predicted to be located in cytoplasmic vesicle; endomembrane system; and membrane. Predicted to be part of clathrin adaptor complex. Is expressed in brain; eye; female organism; inner ear; and otic vesicle. Orthologous to human AP1B1 (adaptor related protein complex 1 subunit beta 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa18117 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa20411 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa26468 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| t20325 | Allele with one point mutation | Unknown | Premature Stop | not specified | |
| tm246a | Allele with one deletion | Unknown | Unknown | not specified |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Keratitis-ichthyosis-deafness syndrome, autosomal recessive | 242150 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR002553 | Clathrin/coatomer adaptor, adaptin-like, N-terminal |
| Domain | IPR008152 | Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain |
| Domain | IPR015151 | Beta-adaptin appendage, C-terminal subdomain |
| Family | IPR016342 | AP-1/2/4 complex subunit beta |
| Family | IPR026739 | AP complex subunit beta |
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Domain Details Per Protein
| Protein | Length | AP-1/2/4 complex subunit beta | AP complex subunit beta | Armadillo | Armadillo-like helical | Armadillo-type fold | Beta-adaptin appendage, C-terminal subdomain | Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain | Clathrin adaptor, appendage, Ig-like subdomain superfamily | Clathrin adaptor, beta-adaptin, appendage, Ig-like subdomain | Clathrin/coatomer adaptor, adaptin-like, N-terminal | Coatomer/calthrin adaptor appendage, C-terminal subdomain | TBP domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3AZG4
|
995 | ||||||||||||
|
UniProtKB:A0A8M2BCC8
|
966 | ||||||||||||
|
UniProtKB:A5PMS9
|
947 | ||||||||||||
|
UniProtKB:A0A8M2BCH0
|
963 | ||||||||||||
|
UniProtKB:A0A8M2BCE3
|
992 |
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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 | CH211-149D1 | ZFIN Curated Data | |
| Encodes | EST | fa11e04 | ||
| Encodes | EST | fc18c08 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001128530 (1) | 4387 nt | ||
| Genomic | GenBank:BX664747 (1) | 188525 nt | ||
| Polypeptide | UniProtKB:A0A8M3AZG4 (1) | 995 aa |
- Newman, M., Hin, N., Pederson, S., Lardelli, M. (2019) Brain transcriptome analysis of a familial Alzheimer's disease-like mutation in the zebrafish presenilin 1 gene implies effects on energy production. Molecular brain. 12:43
- 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
- Grisham, R.C., Kindt, K., Finger-Baier, K., Schmid, B., and Nicolson, T. (2013) Mutations in ap1b1 Cause Mistargeting of the Na(+)/K(+)-ATPase Pump in Sensory Hair Cells. PLoS One. 8(4):e60866
- Seiler, C. and Nicolson, T. (1999) Defective calmodulin-dependent rapid apical endocytosis in zebrafish sensory hair cell mutants. Journal of neurobiology. 41(3):424-434
- Nicolson, T., Rüsch, A., Friedrich, R.W., Granato, M., Ruppersberg, J.P., and Nüsslein-Volhard, C. (1998) Genetic analysis of vertebrate sensory hair cell mechanosensation: the zebrafish circler mutants. Neuron. 20:271-283
- Granato, M., van Eeden, F.J., Schach, U., Trowe, T., Brand, M., Furutani-Seiki, M., Haffter, P., Hammerschmidt, M., Heisenberg, C.P., Jiang, Y.J., Kane, D.A., Kelsh, R.N., Mullins, M.C., Odenthal, J., and Nüsslein-Volhard, C. (1996) Genes controlling and mediating locomotion behavior of the zebrafish embryo and larva. Development (Cambridge, England). 123:399-413
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