Gene
prps1b
- ID
- ZDB-GENE-030131-4011
- Name
- phosphoribosyl pyrophosphate synthetase 1B
- Symbol
- prps1b Nomenclature History
- Previous Names
-
- fc64g03
- im:6909503
- wu:fc64g03
- zgc:153331
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable ribose phosphate diphosphokinase activity. 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 brain; caudal hematopoietic tissue; eye; semicircular canal; and yolk syncytial layer. Used to study 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 human PRPS1 (phosphoribosyl pyrophosphate synthetase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hg19 | Allele with one deletion | Exon 2 | Frameshift, Premature Stop | zinc finger nuclease | |
| hg20 | Allele with one deletion | Exon 2 | Frameshift, Premature Stop | zinc finger nuclease | |
| hg21 | Allele with one delins | Exon 2 | Frameshift, Premature Stop | zinc finger nuclease | |
| sa42360 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sd61 | Allele with one delins | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-prps1b | (2) | |
| CRISPR2-prps1b | (3) | |
| CRISPR3-prps1b | (2) | |
| CRISPR4-prps1b | LaCoursiere et al., 2024 | |
| CRISPR5-prps1b | LaCoursiere et al., 2024 | |
| MO1-prps1b | N/A | DeSmidt et al., 2019 |
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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 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| X-linked deafness 1 | AB + MO1-prps1b | control | DeSmidt et al., 2019 |
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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 |
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Domain Details Per Protein
| Protein | 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:Q08CA5
|
318 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
prps1b-201
(1)
|
Ensembl | 1,537 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-152P16 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:6909503 | Thisse et al., 2004 | |
| Encodes | EST | IMAGE:7160487 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:153331 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:174219 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191518 | ZFIN Curated Data | |
| Has Artifact | EST | fc64g03 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001076568 (1) | 1580 nt | ||
| Genomic | GenBank:AL935304 (1) | 243836 nt | ||
| Polypeptide | UniProtKB:Q08CA5 (1) | 318 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
- 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
- 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
- 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
- Carrington, B., Varshney, G.K., Burgess, S.M., Sood, R. (2015) CRISPR-STAT: an easy and reliable PCR-based method to evaluate target-specific sgRNA activity. Nucleic acids research. 43(22):e157
- Varshney, G.K., Pei, W., LaFave, M.C., Idol, J., Xu, L., Gallardo, V., Carrington, B., Bishop, K., Jones, M., Li, M., Harper, U., Huang, S.C., Prakash, A., Chen, W., Sood, R., Ledin, J., Burgess, S.M. (2015) High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9. Genome research. 25(7):1030-42
- Davey, C., Tallafuss, A., and Washbourne, P. (2010) Differential expression of neuroligin genes in the nervous system of zebrafish. Developmental Dynamics : an official publication of the American Association of Anatomists. 239(2):703-714
- 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
- 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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