Gene
pkd1b
- ID
- ZDB-GENE-100707-2
- Name
- polycystic kidney disease 1b
- Symbol
- pkd1b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to contribute to monoatomic cation channel activity. Acts upstream of or within lymphangiogenesis and regulation of collagen biosynthetic process. Predicted to be located in cilium and membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including lateral mesoderm; nervous system; neural plate; neural tube; and posterior neural rod. Human ortholog(s) of this gene implicated in autosomal dominant polycystic kidney disease; intracranial aneurysm; and polycystic kidney disease 1. Orthologous to human PKD1 (polycystin 1, transient receptor potential channel interacting).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Zhu et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa2656 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17144 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17876 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa27948 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa35281 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa35282 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa35283 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38886 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38887 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa42019 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| polycystic kidney disease 1 | Alliance | Polycystic kidney disease 1 | 173900 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | C-type lectin, conserved site | C-type lectin fold | C-type lectin-like | C-type lectin-like/link domain superfamily | GPS motif | Immunoglobulin-like fold | PKD/Chitinase domain | PKD domain | PKD domain superfamily | PKD/REJ-like domain | PLAT/LH2 domain | PLAT/LH2 domain superfamily | Polycystic kidney disease type 1 protein | Polycystin-1 like, PLAT/LH2 domain | Polycystin cation channel, PKD1/PKD2 | Polycystin domain | REJ domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9QJ55
|
3989 | |||||||||||||||||
|
UniProtKB:A0A8M9QMX0
|
4007 |
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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 | CH211-194J3 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_021480305 (1) | 12324 nt | ||
| Genomic | GenBank:BX510316 (2) | 189720 nt | ||
| Polypeptide | UniProtKB:A0A8M9QMX0 (1) | 4007 aa |
- Ellis, J.L., Evason, K.J., Zhang, C., Fourman, M.N., Liu, J., Ninov, N., Delous, M., Vanhollebeke, B., Fiddes, I., Otis, J.P., Houvras, Y., Farber, S.A., Xu, X., Lin, X., Stainier, D.Y.R., Yin, C. (2022) A missense mutation in the proprotein convertase gene furinb causes hepatic cystogenesis during liver development in zebrafish. Hepatology communications. 6(11):3083-3097
- Lefkopoulos, S., Polyzou, A., Derecka, M., Bergo, V., Clapes, T., Cauchy, P., Jerez-Longres, C., Onishi-Seebacher, M., Yin, N., Martagon-Calderón, N.A., Potts, K.S., Klaeylé, L., Liu, F., Bowman, T.V., Jenuwein, T., Mione, M.C., Trompouki, E. (2020) Repetitive Elements Trigger RIG-I-like Receptor Signaling that Regulates the Emergence of Hematopoietic Stem and Progenitor Cells. Immunity. 53:934-951.e9
- Merrick, D., Mistry, K., Wu, J., Gresko, N., Baggs, J.E., Hogenesch, J.B., Sun, Z., Caplan, M.J. (2018) Polycystin-1 regulates bone development through an interaction with the transcriptional co-activator taz. Human molecular genetics. 28(1):16-30
- Chang, M.Y., Ma, T.L., Hung, C.C., Tian, Y.C., Chen, Y.C., Yang, C.W., Cheng, Y.C. (2017) Metformin Inhibits Cyst Formation in a Zebrafish Model of Polycystin-2 Deficiency. Scientific Reports. 7:7161
- England, S.J., Campbell, P.C., Banerjee, S., Swanson, A.J., Lewis, K.E. (2017) Identification and Expression Analysis of the Complete Family of Zebrafish pkd Genes.. Frontiers in cell and developmental biology. 5:5
- Zhu, P., Sieben, C.J., Xu, X., Harris, P.C., Lin, X. (2017) Autophagy Activators Suppress Cystogenesis in an Autosomal Dominant Polycystic Kidney Disease Model. Human molecular genetics. 26(1):158-172
- 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
- Coxam, B., Sabine, A., Bower, N.I., Smith, K.A., Pichol-Thievend, C., Skoczylas, R., Astin, J.W., Frampton, E., Jaquet, M., Crosier, P.S., Parton, R.G., Harvey, N.L., Petrova, T.V., Schulte-Merker, S., Francois, M., Hogan, B.M. (2014) Pkd1 Regulates Lymphatic Vascular Morphogenesis during Development. Cell Reports. 7:623-33
- Merrick, D., Chapin, H., Baggs, J.E., Yu, Z., Somlo, S., Sun, Z., Hogenesch, J.B., and Caplan, M.J. (2012) The γ-Secretase Cleavage Product of Polycystin-1 Regulates TCF and CHOP-Mediated Transcriptional Activation through a p300-Dependent Mechanism. Developmental Cell. 22(1):197-210
- Mangos, S., Lam, P.Y., Zhao, A., Liu, Y., Mudumana, S., Vasilyev, A., Liu, A., and Drummond, I.A. (2010) The ADPKD genes pkd1a/b and pkd2 regulate extracellular matrix formation. Disease models & mechanisms. 3(5-6):354-365
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