ZFIN is now using GRCz12tu for Genomic Data
Gene

si:ch211-114l13.1

ID
ZDB-GENE-070424-109
Name
si:ch211-114l13.1
Symbol
si:ch211-114l13.1 Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 1 Mapping Details/Browsers
Genome Assembly
GRCz12tu
Annotation Status
Current
Description
Predicted to be located in cytoplasm. 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:ch211-114l13.1 Human Ortholog
No data available
Associated With si:ch211-114l13.1 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 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 IPR051261 NOD-like receptor
Homologous_superfamily IPR013320 Concanavalin A-like lectin/glucanase domain superfamily
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily IPR032675 Leucine-rich repeat domain superfamily
Homologous_superfamily IPR043136 B30.2/SPRY domain superfamily
Repeat IPR001611 Leucine-rich repeat
Domain Details Per Protein
Protein Additional Resources 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 NOD-like receptor P-loop containing nucleoside triphosphate hydrolase SPRY-associated SPRY domain
UniProtKB:A0A8M2B723 InterPro 979
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA si:ch211-114l13.1-201 (1)
Ensembl
Ensembl 3,288 nt
ZFIN BLAST
mRNA si:ch211-114l13.1-202 (1)
Ensembl
Ensembl 684 nt
ZFIN BLAST
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Genome Browsers
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations
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