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

Gene ID: 199713, updated on 3-Apr-2024

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; AllianceGenome:HGNC:22947
Gene type
protein coding
RefSeq status
VALIDATED
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
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Genomic context

Location:
19q13.42
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54923515..54966243, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58017788..58060691, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55434877..55458873, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak3560 silencer Neighboring gene RNA, U6 small nuclear 222, pseudogene Neighboring gene Sharpr-MPRA regulatory region 15416 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55404005-55404755 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55404756-55405506 Neighboring gene Fc alpha receptor Neighboring gene natural cytotoxicity triggering receptor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55431695-55432196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55432197-55432696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55450505-55451214 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:55461990-55462680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55463371-55464060 Neighboring gene ribosomal protein L36a pseudogene 50 Neighboring gene NLR family pyrin domain containing 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55523225-55523784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55526346-55526910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55527390-55527890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55527891-55528391 Neighboring gene GP6 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55538985-55539689 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
Hydatidiform mole, recurrent, 1
MedGen: C3463897 OMIM: 231090 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ94610, MGC126470, MGC126471

Gene Ontology Provided by GOA

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

NEW Try the new Transcript table

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_008056.2 RefSeqGene

    Range
    23739..47735
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127255.2NP_001120727.1  NACHT, LRR and PYD domains-containing protein 7 isoform 3

    See identical proteins and their annotated locations for NP_001120727.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    AC011476
    Consensus CDS
    CCDS46183.1
    UniProtKB/TrEMBL
    B4DYY2
    Related
    ENSP00000468706.1, ENST00000592784.6
    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_001405531.1NP_001392460.1  NACHT, LRR and PYD domains-containing protein 7 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC011476
    Related
    ENSP00000467123.1, ENST00000588756.5
  3. NM_139176.4NP_631915.2  NACHT, LRR and PYD domains-containing protein 7 isoform 1

    See identical proteins and their annotated locations for NP_631915.2

    Status: VALIDATED

    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)
    AC011476
    Consensus CDS
    CCDS12912.1
    UniProtKB/TrEMBL
    A0A0G2JPH3
    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
  4. NM_206828.4NP_996611.2  NACHT, LRR and PYD domains-containing protein 7 isoform 2

    See identical proteins and their annotated locations for NP_996611.2

    Status: VALIDATED

    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)
    AC011476
    Consensus CDS
    CCDS33109.1
    UniProtKB/Swiss-Prot
    E9PE16, Q32MH8, Q7RTR1, Q8WX94
    UniProtKB/TrEMBL
    A0A0G2JMB6
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    54923515..54966243 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047438386.1XP_047294342.1  NACHT, LRR and PYD domains-containing protein 7 isoform X1

    UniProtKB/TrEMBL
    K7ERG0
    Related
    ENSP00000468243.1, ENST00000586379.5

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    826907..869641 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329669.1XP_054185644.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  2. XM_054329667.1XP_054185642.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  3. XM_054329670.1XP_054185645.1  NACHT, LRR and PYD domains-containing protein 7 isoform X3

  4. XM_054329666.1XP_054185641.1  NACHT, LRR and PYD domains-containing protein 7 isoform X2

  5. XM_054329668.1XP_054185643.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  6. XM_054329671.1XP_054185646.1  NACHT, LRR and PYD domains-containing protein 7 isoform X4

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    568712..611445 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330148.1XP_054186123.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  2. XM_054330146.1XP_054186121.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  3. XM_054330149.1XP_054186124.1  NACHT, LRR and PYD domains-containing protein 7 isoform X7

  4. XM_054330145.1XP_054186120.1  NACHT, LRR and PYD domains-containing protein 7 isoform X6

  5. XM_054330147.1XP_054186122.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  6. XM_054330150.1XP_054186125.1  NACHT, LRR and PYD domains-containing protein 7 isoform X8

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NW_003571056.2 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    903495..946229 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330461.1XP_054186436.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  2. XM_054330459.1XP_054186434.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  3. XM_054330462.1XP_054186437.1  NACHT, LRR and PYD domains-containing protein 7 isoform X10

  4. XM_054330458.1XP_054186433.1  NACHT, LRR and PYD domains-containing protein 7 isoform X9

  5. XM_054330460.1XP_054186435.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  6. XM_054330463.1XP_054186438.1  NACHT, LRR and PYD domains-containing protein 7 isoform X11

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

  1. NW_003571057.2 Reference GRCh38.p14 ALT_REF_LOCI_4

    Range
    931032..973766 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330714.1XP_054186689.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  2. XM_054330712.1XP_054186687.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  3. XM_054330715.1XP_054186690.1  NACHT, LRR and PYD domains-containing protein 7 isoform X13

  4. XM_054330711.1XP_054186686.1  NACHT, LRR and PYD domains-containing protein 7 isoform X12

  5. XM_054330713.1XP_054186688.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  6. XM_054330716.1XP_054186691.1  NACHT, LRR and PYD domains-containing protein 7 isoform X14

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

  1. NW_003571058.2 Reference GRCh38.p14 ALT_REF_LOCI_5

    Range
    905581..948315 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330945.1XP_054186920.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  2. XM_054330943.1XP_054186918.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  3. XM_054330946.1XP_054186921.1  NACHT, LRR and PYD domains-containing protein 7 isoform X16

  4. XM_054330942.1XP_054186917.1  NACHT, LRR and PYD domains-containing protein 7 isoform X15

  5. XM_054330944.1XP_054186919.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  6. XM_054330947.1XP_054186922.1  NACHT, LRR and PYD domains-containing protein 7 isoform X17

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NW_003571059.2 Reference GRCh38.p14 ALT_REF_LOCI_6

    Range
    841874..884608 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331223.1XP_054187198.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  2. XM_054331221.1XP_054187196.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  3. XM_054331224.1XP_054187199.1  NACHT, LRR and PYD domains-containing protein 7 isoform X19

  4. XM_054331220.1XP_054187195.1  NACHT, LRR and PYD domains-containing protein 7 isoform X18

  5. XM_054331222.1XP_054187197.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  6. XM_054331225.1XP_054187200.1  NACHT, LRR and PYD domains-containing protein 7 isoform X20

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

  1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

    Range
    827859..868985 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331493.1XP_054187468.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    UniProtKB/TrEMBL
    A0A0G2JNK3
  2. XM_054331495.1XP_054187470.1  NACHT, LRR and PYD domains-containing protein 7 isoform X21

  3. XM_054331492.1XP_054187467.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    UniProtKB/TrEMBL
    A0A0G2JNK3
  4. XM_054331494.1XP_054187469.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

    UniProtKB/TrEMBL
    A0A0G2JNK3
  5. XM_054331496.1XP_054187471.1  NACHT, LRR and PYD domains-containing protein 7 isoform X22

Reference GRCh38.p14 ALT_REF_LOCI_8

Genomic

  1. NW_003571061.2 Reference GRCh38.p14 ALT_REF_LOCI_8

    Range
    635670..678404 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333534.1XP_054189509.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  2. XM_054333532.1XP_054189507.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  3. XM_054333535.1XP_054189510.1  NACHT, LRR and PYD domains-containing protein 7 isoform X24

  4. XM_054333531.1XP_054189506.1  NACHT, LRR and PYD domains-containing protein 7 isoform X23

  5. XM_054333533.1XP_054189508.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  6. XM_054333536.1XP_054189511.1  NACHT, LRR and PYD domains-containing protein 7 isoform X25

Reference GRCh38.p14 ALT_REF_LOCI_9

Genomic

  1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

    Range
    905991..948725 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333632.1XP_054189607.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  2. XM_054333630.1XP_054189605.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  3. XM_054333633.1XP_054189608.1  NACHT, LRR and PYD domains-containing protein 7 isoform X27

  4. XM_054333629.1XP_054189604.1  NACHT, LRR and PYD domains-containing protein 7 isoform X26

  5. XM_054333631.1XP_054189606.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  6. XM_054333634.1XP_054189609.1  NACHT, LRR and PYD domains-containing protein 7 isoform X28

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    58017788..58060691 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054320156.1XP_054176131.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  2. XM_054320154.1XP_054176129.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  3. XM_054320157.1XP_054176132.1  NACHT, LRR and PYD domains-containing protein 7 isoform X30

  4. XM_054320153.1XP_054176128.1  NACHT, LRR and PYD domains-containing protein 7 isoform X29

  5. XM_054320155.1XP_054176130.1  NACHT, LRR and PYD domains-containing protein 7 isoform X5

  6. XM_054320158.1XP_054176133.1  NACHT, LRR and PYD domains-containing protein 7 isoform X31