Gene
nlrp12l
- ID
- ZDB-GENE-090313-181
- Name
- NLR family pyrin domain containing 12-like
- Symbol
- nlrp12l Nomenclature History
- Previous Names
-
- si:dkey-126g1.6
- si:dkey-126g1.7 (1)
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- 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
-
- All Expression Data
- 1 figure from Novoa et al., 2019
- 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
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:A0A8M6YXY0 | InterPro | 812 | ||||||||
UniProtKB:A0A8M2B981 | InterPro | 1046 |
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- Genome Browsers
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
si:dkey-126g1.7-201
(1)
|
Ensembl | 3,290 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | DKEY-126G1 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_068216925 (1) | 4596 nt | ||
Genomic | GenBank:BX927210 (1) | 175627 nt | ||
Polypeptide | UniProtKB:A0A8M2B981 (1) | 1046 aa |
- Novoa, B., Pereiro, P., López-Muñoz, A., Varela, M., Forn-Cuní, G., Anchelin, M., Dios, S., Romero, A., Martinez-López, A., Medina-Gali, R.M., Collado, M., Coll, J., Estepa, A., Cayuela, M.L., Mulero, V., Figueras, A. (2019) Rag1 immunodeficiency-induced early aging and senescence in zebrafish are dependent on chronic inflammation and oxidative stress. Aging Cell. 18(5):e13020
- Jiménez-Amilburu, V., Jong-Raadsen, S., Bakkers, J., Spaink, H.P., Marín-Juez, R. (2015) GLUT12 deficiency during early development results in heart failure and a diabetic phenotype. The Journal of endocrinology. 224(1):1-15
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