Gene
si:ch211-181d7.1
- ID
- ZDB-GENE-121214-14
- Name
- si:ch211-181d7.1
- Symbol
- si:ch211-181d7.1 Nomenclature History
- Previous Names
-
- gene26712F (1)
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to be involved in intracellular signal transduction. 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa28534 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Leucine-rich repeat | 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:A0A8M9P7G6 | InterPro | 942 | ||||||||
| UniProtKB:A0A8M9PCK2 | InterPro | 941 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
si:ch211-181d7.1-201
(1)
|
Ensembl | 2,171 nt | ||
| mRNA |
si:ch211-181d7.1-202
(1)
|
Ensembl | 3,464 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 | CH211-181D7 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_021466493 (1) | |||
| Genomic | GenBank:CR457441 (1) | 135398 nt | ||
| Polypeptide | UniProtKB:A0A8M9P7G6 (1) | 942 aa |
- Comparative Orthology
- Alliance
No data available
- Bergen, D.J.M., Tong, Q., Shukla, A., Newham, E., Zethof, J., Lundberg, M., Ryan, R., Youlten, S.E., Frysz, M., Croucher, P.I., Flik, G., Richardson, R.J., Kemp, J.P., Hammond, C.L., Metz, J.R. (2022) Regenerating zebrafish scales express a subset of evolutionary conserved genes involved in human skeletal disease. BMC Biology. 20:21
- 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
- Tsai, H.Y., Hamilton, A., Tinch, A.E., Guy, D.R., Gharbi, K., Stear, M.J., Matika, O., Bishop, S.C., Houston, R.D. (2015) Genome wide association and genomic prediction for growth traits in juvenile farmed Atlantic salmon using a high density SNP array. BMC Genomics. 16:969
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