Gene

si:dkey-61p9.9

ID
ZDB-GENE-041210-240
Name
si:dkey-61p9.9
Symbol
si:dkey-61p9.9 Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 4 Mapping Details/Browsers
Description
Predicted to be located in membrane. Human ortholog(s) of this gene implicated in CINCA Syndrome; Muckle-Wells syndrome; autosomal dominant nonsyndromic deafness 34; familial cold autoinflammatory syndrome (multiple); and urticaria. 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
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With si:dkey-61p9.9 Human Ortholog
No data available
Associated With si:dkey-61p9.9 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001870 B30.2/SPRY domain
Domain IPR003877 SPRY domain
Domain IPR003879 Butyrophylin-like, SPRY domain
Domain IPR004020 DAPIN domain
Domain IPR006574 SPRY-associated
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 IPR051051 E3 ubiquitin-protein ligase TRIM/RNF
Family IPR051261 NOD-like receptor (NLR)
Homologous_superfamily IPR011029 Death-like domain superfamily
Homologous_superfamily IPR013320 Concanavalin A-like lectin/glucanase domain superfamily
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily IPR043136 B30.2/SPRY domain superfamily
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 DAPIN domain Death-like domain superfamily E3 ubiquitin-protein ligase TRIM/RNF NACHT-associated domain NACHT, LRR and PYD domains-containing protein, helical domain HD2 NACHT nucleoside triphosphatase NOD1/2, winged helix domain NOD-like receptor (NLR) P-loop containing nucleoside triphosphate hydrolase SPRY-associated SPRY domain
UniProtKB:F1QIT1 694
UniProtKB:A0A8M3AZ67 181
UniProtKB:A0A8M9PQT4 181
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA si:dkey-61p9.9-201 (1) Ensembl 2,186 nt
mRNA si:dkey-61p9.9-202 (1) Ensembl 3,406 nt
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Citations