Human Gene NLRP5 (ENST00000390649.8_6) from GENCODE V47lift37
  Description: NLR family pyrin domain containing 5 (from RefSeq NM_153447.4)
Gencode Transcript: ENST00000390649.8_6
Gencode Gene: ENSG00000171487.16_13
Transcript (Including UTRs)
   Position: hg19 chr19:56,511,092-56,573,176 Size: 62,085 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr19:56,511,092-56,572,894 Size: 61,803 Coding Exon Count: 15 

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Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:56,511,092-56,573,176)mRNA (may differ from genome)Protein (1200 aa)
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-  Comments and Description Text from UniProtKB
  ID: NALP5_HUMAN
DESCRIPTION: RecName: Full=NACHT, LRR and PYD domains-containing protein 5; AltName: Full=Mater protein homolog;
FUNCTION: As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions (By similarity).
SUBUNIT: Component of the SCMC which also includes at least OOEP and TLE6 (By similarity).
SUBCELLULAR LOCATION: Mitochondrion (By similarity). Nucleus, nucleolus (By similarity). Cytoplasm (By similarity). Note=In the subcortical cytoplasm of early embryos from the 1-cell to the blastocyst stages. From the 2-cell stage, still detected in the subcortex, but excluded from cell-cell contact regions (By similarity).
TISSUE SPECIFICITY: Oocyte-specific.
SIMILARITY: Belongs to the NLRP family.
SIMILARITY: Contains 1 DAPIN domain.
SIMILARITY: Contains 13 LRR (leucine-rich) repeats.
SIMILARITY: Contains 1 NACHT domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NLRP5
Diseases sorted by gene-association score: autoimmune polyendocrine syndrome (11), autoimmune polyendocrine syndrome type 1 (9), gestational trophoblastic neoplasm (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.27 RPKM in Testis
Total median expression: 0.32 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -69.20282-0.245 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004020 - DAPIN
IPR011029 - DEATH-like
IPR007111 - NACHT_NTPase

Pfam Domains:
PF02758 - PAAD/DAPIN/Pyrin domain
PF05729 - NACHT domain
PF13516 - Leucine Rich repeat
PF17776 - NLRC4 helical domain HD2
PF17779 - NOD2 winged helix domain

SCOP Domains:
47986 - DEATH domain
52047 - RNI-like
52058 - L domain-like
52075 - Outer arm dynein light chain 1
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like

ModBase Predicted Comparative 3D Structure on P59047
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005524 ATP binding

Biological Process:
GO:0070997 neuron death

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005739 mitochondrion


-  Descriptions from all associated GenBank mRNAs
  AB527195 - Synthetic construct DNA, clone: pF1KB7318, Homo sapiens NALP5 gene for NLR family, pyrin domain containing 5, without stop codon, in Flexi system.
BC141431 - Synthetic construct Homo sapiens clone IMAGE:100014773, MGC:175375 NLR family, pyrin domain containing 5 (NLRP5) mRNA, encodes complete protein.
AY054986 - Homo sapiens maternal-antigen-that-embryos-require protein (MATER) mRNA, complete cds.
AY154460 - Homo sapiens NALP5 (NALP5) mRNA, complete cds.
JD486397 - Sequence 467421 from Patent EP1572962.
JD037053 - Sequence 18077 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8MTY4, ENST00000390649.1, ENST00000390649.2, ENST00000390649.3, ENST00000390649.4, ENST00000390649.5, ENST00000390649.6, ENST00000390649.7, MATER , NALP5, NALP5_HUMAN, NM_153447, P59047, Q86W29, uc318txj.1, uc318txj.2
UCSC ID: ENST00000390649.8_6
RefSeq Accession: NM_153447.4
Protein: P59047 (aka NALP5_HUMAN or NAL5_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.