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

Gene ID: 126206, updated on 25-Jan-2022

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
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
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Genomic context

See NLRP5 in Genome Data Viewer
Location:
19q13.43
Exon count:
15
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (55999726..56061810)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (56511092..56573176)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NLR family pyrin domain containing 13 Neighboring gene NLR family pyrin domain containing 8 Neighboring gene long intergenic non-protein coding RNA 1864 Neighboring gene zinc finger protein 787 Neighboring gene Sharpr-MPRA regulatory region 1998

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 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 
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
 
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
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of subcortical maternal complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

  1. NG_046924.1 RefSeqGene

    Range
    17944..80028
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_153447.4NP_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
    P59047
    Related
    ENSP00000375063.3, ENST00000390649.8
    Conserved Domains (5) summary
    cd00116
    Location:8971159
    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:65148
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:839863
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:868895
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:280443
    NACHT; NACHT domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    55999726..56061810
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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