Gene
nherf1a
- ID
- ZDB-GENE-031006-7
- Name
- NHERF family PDZ scaffold protein 1a
- Symbol
- nherf1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to enable membrane-membrane adaptor activity and signaling receptor binding activity. Acts upstream of or within several processes, including otic vesicle development; protein localization to membrane; and ventricular system development. Predicted to be located in several cellular components, including filopodium; microvillus; and ruffle. Predicted to be active in apical plasma membrane. Is expressed in several structures, including anterior neural keel; central nervous system; mesoderm; neural tube; and pronephros. Used to study ciliopathy and sensorineural hearing loss. Human ortholog(s) of this gene implicated in hypophosphatemic nephrolithiasis/osteoporosis 2. Orthologous to human NHERF1 (NHERF family PDZ scaffold protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 15 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb895 (36 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la018224Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| ze001 | Allele with one delins | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-nherf1a | Girotto et al., 2019 | |
| MO1-nherf1a | N/A | (2) |
| MO2-nherf1a | N/A | Treat et al., 2016 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hypophosphatemic nephrolithiasis/osteoporosis 2 | Alliance | Nephrolithiasis/osteoporosis, hypophosphatemic, 2 | 612287 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | EBP50, C-terminal | Na+/H+ exchange regulatory cofactor | Na(+)/H(+) exchange regulatory cofactor NHERF-1/2 | PDZ domain | PDZ superfamily |
|---|---|---|---|---|---|---|---|
| UniProtKB:Q6P2U7 | InterPro | 384 | |||||
| UniProtKB:Q7ZVX1 | InterPro | 386 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc9a3r1a-201
(1)
|
Ensembl | 2,033 nt | ||
| ncRNA |
slc9a3r1-002
(1)
|
Ensembl | 901 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 | CH211-13L14 | ZFIN Curated Data | |
| Contains | STS | chunp30607 | ||
| Encodes | EST | cb895 | ZFIN Curated Data | |
| Encodes | EST | fd20a02 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:55541 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:77629 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191987 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_212707 (1) | 2072 nt | ||
| Genomic | GenBank:BX088589 (1) | 242558 nt | ||
| Polypeptide | UniProtKB:Q7ZVX1 (1) | 386 aa |
- Chambers, B.E., Gerlach, G.F., Clark, E.G., Chen, K.H., Levesque, A.E., Leshchiner, I., Goessling, W., Wingert, R.A. (2019) Tfap2a is a novel gatekeeper of nephron differentiation during kidney development. Development (Cambridge, England). 146(13):
- Girotto, G., Morgan, A., Krishnamoorthy, N., Cocca, M., Brumat, M., Bassani, S., La Bianca, M., Di Stazio, M., Gasparini, P. (2019) Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss. Frontiers in genetics. 10:142
- Yang, L., Jiang, H., Chen, J., Lei, Y., Sun, N., Lv, W., Near, T.J., He, S. (2019) Comparative Genomics Reveals Accelerated Evolution of Fright Reaction Genes in Ostariophysan Fishes. Frontiers in genetics. 10:1283
- 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
- Hsu, L.S., Chiou, B.H., Hsu, T.W., Wang, C.C., Chen, S.C. (2017) The regulation of transcriptome responses in zebrafish embryo exposure to triadimefon. Environmental toxicology. 32(1):217-226
- Treat, A.C., Wheeler, D.S., Stolz, D.B., Tsang, M., Friedman, P.A., Romero, G. (2016) The PDZ Protein Na+/H+ Exchanger Regulatory Factor-1 (NHERF1) Regulates Planar Cell Polarity and Motile Cilia Organization. PLoS One. 11(4):e0153144
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Shieh, Y.S., Chang, Y.S., Hong, J.R., Chen, L.J., Jou, L.K., Hsu, C.C., and Her, G.M. (2010) Increase of hepatic fat accumulation by liver specific expression of Hepatitis B virus X protein in zebrafish. Biochimica et biophysica acta. Molecular and cell biology of lipids. 1801(7):721-730
- Flynt, A.S., Thatcher, E.J., Burkewitz, K., Li, N., Liu, Y., and Patton, J.G. (2009) miR-8 microRNAs regulate the response to osmotic stress in zebrafish embryos. The Journal of cell biology. 185(1):115-127
- Mishima, Y., Abreu-Goodger, C., Staton, A.A., Stahlhut, C., Shou, C., Cheng, C., Gerstein, M., Enright, A.J., and Giraldez, A.J. (2009) Zebrafish miR-1 and miR-133 shape muscle gene expression and regulate sarcomeric actin organization. Genes & Development. 23(5):619-632
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