Gene
si:cabz01069012.2
- ID
- ZDB-GENE-161017-152
- Name
- si:cabz01069012.2
- Symbol
- si:cabz01069012.2 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to be located in cytoplasm. Human ortholog(s) of this gene implicated in Muckle-Wells syndrome; autoimmune disease (multiple); autosomal dominant nonsyndromic deafness 34; familial cold autoinflammatory syndrome (multiple); and urticaria. Orthologous to several human genes including NLRP1 (NLR family pyrin domain containing 1); NLRP12 (NLR family pyrin domain containing 12); and NLRP13 (NLR family pyrin domain containing 13).
- 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
No data available
No data available
Human Disease
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | B30.2/SPRY domain | B30.2/SPRY domain superfamily | Butyrophylin-like, SPRY domain | Concanavalin A-like lectin/glucanase domain superfamily | 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 | P-loop containing nucleoside triphosphate hydrolase | SPRY-associated | SPRY domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:E7F4S5
|
1088 | |||||||||||||
|
UniProtKB:A0A8M9PV76
|
1084 | |||||||||||||
|
UniProtKB:A0A8M9PHY6
|
1045 |
1 - 3 of 3
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
si:cabz01069012.2-201
(1)
|
Ensembl | 9,858 nt | ||
| mRNA |
si:cabz01069012.2-202
(1)
|
Ensembl | 2,383 nt |
1 - 2 of 2
Interactions and Pathways
No data available
Plasmids
No data available
No data available
No data available
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_021475303 (1) | 12080 nt | ||
| Genomic | GenBank:LO018205 (1) | 103411 nt | ||
| Polypeptide | UniProtKB:E7F4S5 (1) | 1088 aa |
No data available