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NLRP7 NLR family pyrin domain containing 7 [ Homo sapiens (human) ]

Gene ID: 199713, updated on 24-Nov-2020

Summary

Official Symbol
NLRP7provided by HGNC
Official Full Name
NLR family pyrin domain containing 7provided by HGNC
Primary source
HGNC:HGNC:22947
See related
Ensembl:ENSG00000167634 MIM:609661
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HYDM; PAN7; NALP7; NOD12; PYPAF3; CLR19.4
Summary
This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression
Biased expression in testis (RPKM 2.5), lung (RPKM 0.4) and 7 other tissues See more
Orthologs

Genomic context

See NLRP7 in Genome Data Viewer
Location:
19q13.42
Exon count:
13
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (54923509..54965184, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55434857..55477611, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 222, pseudogene Neighboring gene Fc fragment of IgA receptor Neighboring gene natural cytotoxicity triggering receptor 1 Neighboring gene ribosomal protein L36a pseudogene 50 Neighboring gene NLR family pyrin domain containing 2 Neighboring gene GP6 antisense RNA 1 Neighboring gene glycoprotein VI platelet

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Hydatidiform mole, recurrent, 1
MedGen: C3463897 OMIM: 231090 GeneReviews: Not available
Compare labs

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ94610, MGC126470, MGC126471

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
aspartic-type endopeptidase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
caspase binding IPI
Inferred from Physical Interaction
more info
PubMed 
interleukin-1 binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 

General protein information

Preferred Names
NACHT, LRR and PYD domains-containing protein 7
Names
NACHT, LRR and PYD containing protein 7
NACHT, leucine rich repeat and PYD containing 7
PYRIN-containing Apaf1-like protein 3
nucleotide-binding oligomerization domain protein 12
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008056.1 RefSeqGene

    Range
    5001..28997
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127255.1NP_001120727.1  NACHT, LRR and PYD domains-containing protein 7 isoform 3

    See identical proteins and their annotated locations for NP_001120727.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    AF464765, AY154462, BC109125, DC425389
    Consensus CDS
    CCDS46183.1
    UniProtKB/Swiss-Prot
    Q8WX94
    Related
    ENSP00000468706.1, ENST00000592784.5
    Conserved Domains (5) summary
    COG1100
    Location:172256
    Gem1; GTPase SAR1 family domain [General function prediction only]
    cd00116
    Location:730997
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08320
    Location:1093
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:791814
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:172340
    NACHT; NACHT domain
  2. NM_139176.3NP_631915.2  NACHT, LRR and PYD domains-containing protein 7 isoform 1

    See identical proteins and their annotated locations for NP_631915.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate in-frame splice site in the 5' coding region, compared to variant 3, resulting in a shorter protein (isoform 1), compared to isoform 3.
    Source sequence(s)
    AF464765, BK001113, DC425389
    Consensus CDS
    CCDS12912.1
    UniProtKB/Swiss-Prot
    Q8WX94
    Related
    ENSP00000329568.5, ENST00000328092.9
    Conserved Domains (5) summary
    COG1100
    Location:172256
    Gem1; GTPase SAR1 family domain [General function prediction only]
    cd00116
    Location:702969
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08320
    Location:1093
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:763786
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:172340
    NACHT; NACHT domain
  3. NM_206828.3NP_996611.2  NACHT, LRR and PYD domains-containing protein 7 isoform 2

    See identical proteins and their annotated locations for NP_996611.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 3, resulting in a shorter protein (isoform 2), compared to isoform 3.
    Source sequence(s)
    AF464765, AY154462, DC425389
    Consensus CDS
    CCDS33109.1
    UniProtKB/Swiss-Prot
    Q8WX94
    Related
    ENSP00000339491.2, ENST00000340844.6
    Conserved Domains (5) summary
    COG1100
    Location:172256
    Gem1; GTPase SAR1 family domain [General function prediction only]
    cd00116
    Location:751940
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08320
    Location:1093
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:791814
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:172340
    NACHT; NACHT domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    54923509..54965184 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723076.3XP_006723139.1  NACHT, LRR and PYD domains-containing protein 7 isoform X2

    See identical proteins and their annotated locations for XP_006723139.1

    UniProtKB/Swiss-Prot
    Q8WX94
    Conserved Domains (5) summary
    COG1100
    Location:172256
    Gem1; GTPase SAR1 family domain [General function prediction only]
    cd00116
    Location:730997
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08320
    Location:1093
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:791814
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:172340
    NACHT; NACHT domain
  2. XM_006723075.3XP_006723138.1  NACHT, LRR and PYD domains-containing protein 7 isoform X2

    See identical proteins and their annotated locations for XP_006723138.1

    UniProtKB/Swiss-Prot
    Q8WX94
    Conserved Domains (5) summary
    COG1100
    Location:172256
    Gem1; GTPase SAR1 family domain [General function prediction only]
    cd00116
    Location:730997
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08320
    Location:1093
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:791814
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:172340
    NACHT; NACHT domain
  3. XM_011526601.2XP_011524903.1  NACHT, LRR and PYD domains-containing protein 7 isoform X3

    See identical proteins and their annotated locations for XP_011524903.1

    Conserved Domains (5) summary
    COG1100
    Location:200284
    Gem1; GTPase SAR1 family domain [General function prediction only]
    cd00116
    Location:779968
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08320
    Location:38121
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:819842
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:200368
    NACHT; NACHT domain
  4. XM_011526596.2XP_011524898.1  NACHT, LRR and PYD domains-containing protein 7 isoform X1

    See identical proteins and their annotated locations for XP_011524898.1

    Conserved Domains (5) summary
    COG1100
    Location:200284
    Gem1; GTPase SAR1 family domain [General function prediction only]
    cd00116
    Location:7581025
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08320
    Location:38121
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:819842
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:200368
    NACHT; NACHT domain
  5. XM_011526599.2XP_011524901.1  NACHT, LRR and PYD domains-containing protein 7 isoform X2

    See identical proteins and their annotated locations for XP_011524901.1

    UniProtKB/Swiss-Prot
    Q8WX94
    Conserved Domains (5) summary
    COG1100
    Location:172256
    Gem1; GTPase SAR1 family domain [General function prediction only]
    cd00116
    Location:730997
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08320
    Location:1093
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:791814
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:172340
    NACHT; NACHT domain

RNA

  1. XR_935761.1 RNA Sequence

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003571054.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    826907..850903 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NW_003571055.2 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    568712..592707 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NW_003571056.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    903495..927491 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NW_003571057.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    931032..955028 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NW_003571058.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    905581..929577 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NW_003571059.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    841874..865870 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NW_003571060.1 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    827859..851863 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_8

Genomic

  1. NW_003571061.2 Reference GRCh38.p13 ALT_REF_LOCI_8

    Range
    635670..659666 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_9

Genomic

  1. NT_187693.1 Reference GRCh38.p13 ALT_REF_LOCI_9

    Range
    905991..929987 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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