Description
NLR family, pyrin domain containing 1 [Source:HGNC Symbol;Acc:14374]
Gene Synonyms
CARD7, CIDED, CLR17.1, DEFCAP, DEFCAP-L/S, DKFZp586O1822, KIAA0926, NAC, NALP1, PP1044, SLEV1, VAMAS1
Location
Chromosome 17: 5,402,747-5,522,744 reverse strand.
GRCh37:CM000679.1
About this gene
This gene has 14 transcripts (splice variants), 6 paralogues and is associated with 7 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000572272.1 | NLRP1-011 | 4422 | 1473aa | ENSP00000460475.1 | Protein coding | CCDS42246 | I3L0S2 I3L2G5 Q9C000 | - | Ensembl Canonical, GENCODE Basic, |
ENST00000345221.3 | NLRP1-201 | 5480 | 1429aa | ENSP00000324366.3 | Protein coding | CCDS42245 | I3L0S2 I3L2G5 Q9C000 | NM_033007.3 | GENCODE Basic, |
ENST00000262467.5 | NLRP1-001 | 5131 | 1375aa | ENSP00000262467.5 | Protein coding | CCDS32537 | E9PE50 I3L0S2 Q9H5Z7 | NM_001033053.2 | GENCODE Basic, |
ENST00000269280.4 | NLRP1-010 | 5075 | 1429aa | ENSP00000269280.4 | Protein coding | CCDS42245 | I3L0S2 I3L2G5 Q9C000 | - | GENCODE Basic, |
ENST00000354411.3 | NLRP1-012 | 4332 | 1443aa | ENSP00000346390.3 | Protein coding | CCDS42244 | I3L0S2 Q9C000 | NM_033006.3 | GENCODE Basic, |
ENST00000577119.1 | NLRP1-009 | 4200 | 1399aa | ENSP00000460216.1 | Protein coding | CCDS58508 | I3L0S2 Q9C000 | - | GENCODE Basic, |
ENST00000576905.1 | NLRP1-014 | 555 | 35aa | ENSP00000458303.1 | Protein coding | I3L0S2 | - | CDS 3' incomplete, | |
ENST00000571451.2 | NLRP1-008 | 5444 | 1051aa | ENSP00000459661.2 | Nonsense mediated decay | I3L0S2 I3L2G5 | - | - | |
ENST00000544378.2 | NLRP1-002 | 5281 | 1375aa | ENSP00000442029.2 | Nonsense mediated decay | CCDS32537 | E9PE50 I3L0S2 Q9H5Z7 | - | - |
ENST00000571307.1 | NLRP1-007 | 4050 | No protein | - | Processed transcript | - | - | - | |
ENST00000574406.1 | NLRP1-003 | 1750 | No protein | - | Processed transcript | - | - | - | |
ENST00000568641.1 | NLRP1-004 | 1627 | No protein | - | Processed transcript | - | - | - | |
ENST00000572143.1 | NLRP1-013 | 578 | No protein | - | Processed transcript | - | - | - | |
ENST00000574512.1 | NLRP1-005 | 4506 | No protein | - | Retained intron | - | - | - |