Gene
si:ch211-196h16.5
- ID
- ZDB-GENE-081029-8
- Name
- si:ch211-196h16.5
- Symbol
- si:ch211-196h16.5 Nomenclature History
- Previous Names
-
- Gene1133 (1)
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to be located in cytoplasm. Human ortholog(s) of this gene implicated in several diseases, including CINCA Syndrome; Muckle-Wells syndrome; autosomal dominant nonsyndromic deafness 34; familial cold autoinflammatory syndrome (multiple); and gestational trophoblastic neoplasm. Orthologous to several human genes including NLRP12 (NLR family pyrin domain containing 12); NLRP13 (NLR family pyrin domain containing 13); and NLRP14 (NLR family pyrin domain containing 14).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-nlrp16 | Kenyon et al., 2017 | |
| CRISPR1-si:ch211-196h16.5 | Sun et al., 2019 |
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Human Disease
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Leucine-rich repeat | Leucine-rich repeat, cysteine-containing subtype | Leucine-rich repeat domain superfamily | NACHT-associated domain | NACHT, LRR and PYD domains-containing protein, helical domain HD2 | NACHT nucleoside triphosphatase | NOD1/2, winged helix domain | NOD-like receptor | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8N7UUW9 | InterPro | 1041 | |||||||||
| UniProtKB:A0AB32TRH4 | InterPro | 926 | |||||||||
| UniProtKB:A0AB32TVJ5 | InterPro | 984 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
si:ch211-196h16.5-201
(1)
|
Ensembl | 4,105 nt | ||
| mRNA |
si:ch211-196h16.5-202
(1)
|
Ensembl | 1,656 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 | CH211-196H16 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_685006 (1) | 3858 nt | ||
| Genomic | GenBank:AL929150 (1) | 210602 nt | ||
| Polypeptide | UniProtKB:A0A8N7UUW9 (1) | 1041 aa |
No data available
- Sun, Y., Zhang, B., Luo, L., Shi, D.L., Wang, H., Cui, Z., Huang, H., Cao, Y., Shu, X., Zhang, W., Zhou, J., Li, Y., Du, J., Zhao, Q., Chen, J., Zhong, H., Zhong, T.P., Li, L., Xiong, J.W., Peng, J., Xiao, W., Zhang, J., Yao, J., Yin, Z., Mo, X., Peng, G., Zhu, J., Chen, Y., Zhou, Y., Liu, D., Pan, W., Zhang, Y., Ruan, H., Liu, F., Zhu, Z., Meng, A., ZAKOC Consortium (2019) Systematic genome editing of the genes on zebrafish Chromosome 1 by CRISPR/Cas9. Genome research. 30(1):118-26
- Hu, Y.W., Wu, X.M., Ren, S.S., Cao, L., Nie, P., Chang, M.X. (2017) NOD1 deficiency impairs CD44a/Lck as well as PI3K/Akt pathway. Scientific Reports. 7:2979
- Kenyon, A., Gavriouchkina, D., Zorman, J., Napolitani, G., Cerundolo, V., Sauka-Spengler, T. (2017) Active nuclear transcriptome analysis reveals inflammasome-dependent mechanism for early neutrophil response to Mycobacterium marinum. Scientific Reports. 7:6505
- 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
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