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 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS42246 | I3L0S2 I3L2G5 Q9C000 | - | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000345221.3 | NLRP1-201 | 5480 | 1429aa | ENSP00000324366.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS42245 | I3L0S2 I3L2G5 Q9C000 | NM_033007.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000262467.5 | NLRP1-001 | 5131 | 1375aa | ENSP00000262467.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS32537 | E9PE50 I3L0S2 Q9H5Z7 | NM_001033053.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000269280.4 | NLRP1-010 | 5075 | 1429aa | ENSP00000269280.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS42245 | I3L0S2 I3L2G5 Q9C000 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000354411.3 | NLRP1-012 | 4332 | 1443aa | ENSP00000346390.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS42244 | I3L0S2 Q9C000 | NM_033006.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000577119.1 | NLRP1-009 | 4200 | 1399aa | ENSP00000460216.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS58508 | I3L0S2 Q9C000 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000576905.1 | NLRP1-014 | 555 | 35aa | ENSP00000458303.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | I3L0S2 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.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 | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000574406.1 | NLRP1-003 | 1750 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000568641.1 | NLRP1-004 | 1627 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000572143.1 | NLRP1-013 | 578 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000574512.1 | NLRP1-005 | 4506 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
