NLRP5 NLR family pyrin domain containing 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NLRP5provided by HGNC
Official Full Name: NLR family pyrin domain containing 5provided by HGNC
Primary source: HGNC:HGNC:21269
See related: Ensembl:ENSG00000171487 MIM:609658; AllianceGenome:HGNC:21269
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: MATER; NALP5; PAN11; PYPAF8; CLR19.8; OZEMA19
Summary: The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.43

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (55999726..56061810)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (59098923..59161007)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (56511092..56573176)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest.
Title: Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest.
Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.
Title: Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.
Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.
Title: Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.
Deubiquitination and Activation of the NLRP3 Inflammasome by UCHL5 in HCV-Infected Cells.
Title: Deubiquitination and Activation of the NLRP3 Inflammasome by UCHL5 in HCV-Infected Cells.
A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family.
Title: A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family.
The identification of two novel maternal-effect variants of NLRP5 associated with poly-abortivity and s multi-locus imprinting disturbances (MLID) adds further evidence to its role in the maintenance of genomic imprinting in early embryos.
Title: The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype.
NLRP2 and NLRP5 are novel mutant genes responsible for human early embryonic arrest.
Title: Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest.
PSMG4 and NLRP5 appear of particular interest as they were found to be associated with more than one clinical phenotype and are implicated in biological processes considered relevant to the pathophysiology of MS. Also, PSMG4 p.W99R and NLRP5 p.R761L were found to correlate with an earlier age of MS clinical onset. Our data suggests PSMG4 and NLPR5 as potential targets for the development of modifying therapies for MS.
Title: Genetic modifiers of multiple sclerosis progression, severity and onset.
expression of MATER and NOX4 proteins are closely related to the follicular development and ovulation with particular regard for ovarian aging
Title: NADPH oxidase-4 and MATER expressions in granulosa cells: Relationships with ovarian aging.
NLRP5 mutation is associated with multilocus imprinting disorders and reproductive wastage.
Title: Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Oocyte/zygote/embryo maturation arrest 19 MedGen: C5830442 OMIM: 620333 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tubulin binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in cortical granule exocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of organelle localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of spindle localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in exocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of embryonic development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell division	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of localization	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell cortex	IBA Inferred from Biological aspect of Ancestor more info
located_in cell cortex	ISS Inferred from Sequence or Structural Similarity more info
located_in cortical granule	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleolus	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of subcortical maternal complex	IBA Inferred from Biological aspect of Ancestor more info
part_of subcortical maternal complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: NACHT, LRR and PYD domains-containing protein 5

Names: NACHT, leucine rich repeat and PYD containing 5; mater protein homolog; maternal antigen that embryos require; nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5

NCBI Reference Sequences (RefSeq)

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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

NG_046924.1 RefSeqGene

Range

17944..80028

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_153447.4 → NP_703148.4 NACHT, LRR and PYD domains-containing protein 5

See identical proteins and their annotated locations for NP_703148.4

Status: REVIEWED

Source sequence(s)

AC024580, AY154460

Consensus CDS

CCDS12938.1

UniProtKB/Swiss-Prot

A8MTY4, P59047, Q86W29

Related

ENSP00000375063.3, ENST00000390649.8

Conserved Domains (5) summary

cd00116
Location:897 → 1159

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:65 → 148

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00033
Location:839 → 863

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:868 → 895

LRR_AMN1; leucine-rich repeat [structural motif]

pfam05729
Location:280 → 443

NACHT; NACHT domain