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 involved in intracellular signal transduction. Human ortholog(s) of this gene implicated in several diseases, including Muckle-Wells syndrome; autoimmune disease (multiple); 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
Human Disease
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR007111 | NACHT nucleoside triphosphatase |
| Domain | IPR029495 | NACHT-associated domain |
| Domain | IPR041075 | NOD1/2, winged helix domain |
| Domain | IPR041267 | NACHT, LRR and PYD domains-containing protein, helical domain HD2 |
| Family | IPR051261 | NOD-like receptor |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR032675 | Leucine-rich repeat domain superfamily |
| Repeat | IPR001611 | Leucine-rich repeat |
| Repeat | IPR006553 | Leucine-rich repeat, cysteine-containing subtype |
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 |
- Genome Browsers
| 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 |
Interactions and Pathways
No data available
Plasmids
No data available