Gene
prss12
- ID
- ZDB-GENE-090313-45
- Name
- serine protease 12
- Symbol
- prss12 Nomenclature History
- Previous Names
-
- si:ch211-152j23.2
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have serine-type endopeptidase activity. Predicted to be involved in zymogen activation. Predicted to localize to plasma membrane. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability and intellectual disability. Orthologous to human PRSS12 (serine protease 12).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 1 figure from Anderson et al., 2020
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
la021031Tg | Transgenic insertion | Unknown | Unknown | DNA | |
sa14034 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
zko389a | Allele with one deletion | Unknown | Unknown | CRISPR |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-prss12 | China Zebrafish Resource Center (CZRC) |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
autosomal recessive intellectual developmental disorder 1 | Alliance | Intellectual developmental disorder, autosomal recessive 1 | 249500 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Kringle | Kringle, conserved site | Kringle-like fold | Kringle superfamily | Peptidase S1A, chymotrypsin family | Peptidase S1, PA clan | Peptidase S1, PA clan, chymotrypsin-like fold | Serine proteases, trypsin domain | Serine proteases, trypsin family, serine active site | SRCR domain | SRCR-like domain superfamily |
---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M1QHD3
|
818 | |||||||||||
UniProtKB:A0A8M9PPR7
|
818 | |||||||||||
UniProtKB:A0A8M9Q8F7
|
660 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
prss12-201
(1)
|
Ensembl | 2,451 nt | ||
mRNA |
prss12-202
(1)
|
Ensembl | 5,200 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 | CH211-152J23 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_001920264 (1) | |||
Genomic | GenBank:BX119979 (1) | 194023 nt | ||
Polypeptide | UniProtKB:A0A8M1QHD3 (1) | 818 aa |
- Anderson, R.A., Schwalbach, K.T., Mui, S.R., LeClair, E.E., Topczewska, J.M., Topczewski, J. (2020) Zebrafish models of skeletal dysplasia induced by cholesterol biosynthesis deficiency. Disease models & mechanisms. 13(6):
- 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
- Filipek-Górniok, B., Carlsson, P., Haitina, T., Habicher, J., Ledin, J., Kjellén, L. (2015) The Ndst Gene Family in Zebrafish: Role of Ndst1b in Pharyngeal Arch Formation. PLoS One. 10:e0119040
- 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
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
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