Gene
prps1a
- ID
- ZDB-GENE-011212-5
- Name
- phosphoribosyl pyrophosphate synthetase 1A
- Symbol
- prps1a Nomenclature History
- Previous Names
-
- prps1
- cb96 (1)
- wu:fa18f03
- wu:fb33h12
- wu:fd26g08
- zgc:55299
- zgc:76932
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable ribose phosphate diphosphokinase activity. Involved in actin filament bundle organization. Acts upstream of or within inner ear development. Predicted to be part of ribose phosphate diphosphokinase complex. Predicted to be active in cytoplasm. Is expressed in several structures, including alar plate midbrain region; caudal hematopoietic tissue; immature eye; nervous system; and yolk. Used to study Charcot-Marie-Tooth disease X-linked recessive 5 and X-linked deafness 1. Human ortholog(s) of this gene implicated in Arts syndrome; X-linked deafness 1; X-linked recessive disease (multiple); gout; and retinitis pigmentosa. Orthologous to several human genes including PRPS1 (phosphoribosyl pyrophosphate synthetase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb96 (15 images)
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la015591Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sd59 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| sd60 | Allele with one deletion | Unknown | Unknown | CRISPR |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Arts syndrome | Alliance | Arts syndrome | 301835 |
| Charcot-Marie-Tooth disease X-linked recessive 5 | Alliance | Charcot-Marie-Tooth disease, X-linked recessive, 5 | 311070 |
| phosphoribosylpyrophosphate synthetase superactivity | Alliance | Gout, PRPS-related | 300661 |
| phosphoribosylpyrophosphate synthetase superactivity | Alliance | Phosphoribosylpyrophosphate synthetase superactivity | 300661 |
| X-linked deafness 1 | Alliance | Deafness, X-linked 1 | 304500 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR000842 | Phosphoribosyl pyrophosphate synthetase, conserved site |
| Domain | IPR000836 | Phosphoribosyltransferase domain |
| Domain | IPR029099 | Ribose-phosphate pyrophosphokinase, N-terminal domain |
| Family | IPR005946 | Ribose-phosphate pyrophosphokinase |
| Family | IPR037515 | Ribose-phosphate pyrophosphokinase, bacterial-type |
| Homologous_superfamily | IPR029057 | Phosphoribosyltransferase-like |
Domain Details Per Protein
| Protein | Additional Resources | Length | Phosphoribosyl pyrophosphate synthetase, conserved site | Phosphoribosyltransferase domain | Phosphoribosyltransferase-like | Ribose-phosphate pyrophosphokinase | Ribose-phosphate pyrophosphokinase, bacterial-type | Ribose-phosphate pyrophosphokinase, N-terminal domain |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q4KME9 | InterPro | 320 | ||||||
| UniProtKB:A0A8M3B9F9 | InterPro | 323 | ||||||
| UniProtKB:Q6NYR9 | InterPro | 299 | ||||||
| UniProtKB:A0A8M3AS85 | InterPro | 321 | ||||||
| UniProtKB:Q7ZW39 | InterPro | 318 | ||||||
| UniProtKB:A0A8M9QDH9 | InterPro | 207 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
prps1a-201
(1)
|
Ensembl | 2,311 nt | ||
| mRNA |
prps1a-202
(1)
|
Ensembl | 1,282 nt | ||
| mRNA |
prps1a-203
(1)
|
Ensembl | 1,276 nt | ||
| mRNA |
prps1a-204
(1)
|
Ensembl | 2,292 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-114C15 | ZFIN Curated Data | |
| Encodes | EST | cb96 | Thisse et al., 2001 | |
| Encodes | EST | fa18f03 | ||
| Encodes | EST | fb33h12 | ||
| Encodes | EST | fd26g08 | ||
| Encodes | cDNA | MGC:55299 | ||
| Encodes | cDNA | MGC:76932 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:111881 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001359894 (1) | 2314 nt | ||
| Genomic | GenBank:BX640539 (1) | 86752 nt | ||
| Polypeptide | UniProtKB:A0A8M3B9F9 (1) | 323 aa |
- LaCoursiere, C.M., Ullmann, J.F.P., Koh, H.Y., Turner, L., Baker, C.M., Robens, B., Shao, W., Rotenberg, A., McGraw, C.M., Poduri, A.H. (2024) Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability. iScience. 27:110172110172
- Postlethwait, J.H., Massaquoi, M.S., Farnsworth, D.R., Yan, Y.L., Guillemin, K., Miller, A.C. (2021) The SARS-CoV-2 receptor and other key components of the Renin-Angiotensin-Aldosterone System related to COVID-19 are expressed in enterocytes in larval zebrafish. Biology Open. 10(3):
- Begovich, K., Yelon, D., Wilhelm, J.E. (2020) Phosphoribosyl pyrophosphate synthetase polymerization influences lens fiber organization in zebrafish. Developmental Dynamics : an official publication of the American Association of Anatomists. 249(8):1018-1031
- Kasper, D.M., Hintzen, J., Wu, Y., Ghersi, J.J., Mandl, H.K., Salinas, K.E., Armero, W., He, Z., Sheng, Y., Xie, Y., Heindel, D.W., Park, E.J., Sessa, W.C., Mahal, L.K., Lebrilla, C., Hirschi, K.K., Nicoli, S. (2020) The N-glycome regulates the endothelial-to-hematopoietic transition. Science (New York, N.Y.). 370:1186-1191
- DeSmidt, A.A., Zou, B., Grati, M., Yan, D., Mittal, R., Yao, Q., Richmond, M.T., Denyer, S., Liu, X.Z., Lu, Z. (2019) Zebrafish Model for Non-Syndromic X-linked Sensorineural Deafness, DFNX1. Anatomical record (Hoboken, N.J. : 2007). 303(3):544-555
- Pei, W., Xu, L., Huang, S.C., Pettie, K., Idol, J., Rissone, A., Jimenez, E., Sinclair, J.W., Slevin, C., Varshney, G.K., Jones, M., Carrington, B., Bishop, K., Huang, H., Sood, R., Lin, S., Burgess, S.M. (2018) Guided genetic screen to identify genes essential in the regeneration of hair cells and other tissues. NPJ Regenerative medicine. 3:11
- 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
- Pei, W., Xu, L., Varshney, G.K., Carrington, B., Bishop, K., Jones, M., Huang, S.C., Idol, J., Pretorius, P.R., Beirl, A., Schimmenti, L.A., Kindt, K.S., Sood, R., Burgess, S.M. (2016) Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases. Scientific Reports. 6:29946
- 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
- Grati, M., Chakchouk, I., Ma, Q., Bensaid, M., DeSmidt, A., Turki, N., Yan, D., Baanannou, A., Mittal, R., Driss, N., Blanton, S., Farooq, A., Lu, Z., Liu, X.Z., Masmoudi, S. (2015) A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation. Human molecular genetics. 24(9):2482-91
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