NLRP5 (NLR family pyrin domain containing 5)

Gene

• Entrez ID: 126206
• Gene name: NLR family pyrin domain containing 5
• Gene symbol: NLRP5
• Synonyms (NCBI Gene): CLR19.8, MATER, NALP5, OZEMA19, PAN11, PYPAF8
• Chromosome: 19
• Chromosome location: 19q13.43
• 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).

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1187285	hsa-miR-4326	CLIP-seq
MIRT1187286	hsa-miR-4691-5p	CLIP-seq
MIRT1187287	hsa-miR-561	CLIP-seq
MIRT1187288	hsa-miR-570	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	19542546, 25542835
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19192343, 25542835
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IEA
GO:0005730	Component	Nucleolus	ISS
GO:0005737	Component	Cytoplasm	IDA	19192343, 19542546, 25542835
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	19192343
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005794	Component	Golgi apparatus	IDA	19192343
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005938	Component	Cell cortex	IBA
GO:0005938	Component	Cell cortex	ISS
GO:0006887	Process	Exocytosis	ISS
GO:0007015	Process	Actin filament organization	ISS
GO:0015631	Function	Tubulin binding	IPI	24374158
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032880	Process	Regulation of protein localization	ISS
GO:0040019	Process	Positive regulation of embryonic development	ISS
GO:0050727	Process	Regulation of inflammatory response	IBA
GO:0051293	Process	Establishment of spindle localization	ISS
GO:0051302	Process	Regulation of cell division	ISS
GO:0051656	Process	Establishment of organelle localization	ISS
GO:0060471	Process	Cortical granule exocytosis	ISS
GO:0060473	Component	Cortical granule	IDA	19192343
GO:0060473	Component	Cortical granule	IEA
GO:0106333	Component	Subcortical maternal complex	IBA
GO:0106333	Component	Subcortical maternal complex	IDA	25542835
GO:0140089	Process	Protein storage	ISS
GO:0140094	Function	Structural constituent of cytoplasmic lattice	ISS
GO:0140095	Component	Cytoplasmic lattice	IDA	37922900

Other IDs

• MIM: 609658
• HGNC: 21269
• e!Ensembl: ENSG00000171487

Protein

• UniProt ID: P59047
• Protein name: NACHT, LRR and PYD domains-containing protein 5 (Mater protein homolog) (Maternal Antigen that Embryos Require)
• Protein function: Component of the subcortical maternal complex (SCMC), a multiprotein complex that plays a key role in early embryonic development. The SCMC complex is a structural constituent of cytoplasmic lattices, which consist in fibrous structures found in
• PDB: 8X7V, 8X7W
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02758	PYRIN	64 → 140	PAAD/DAPIN/Pyrin domain	Domain
  PF05729	NACHT	280 → 446	NACHT domain	Domain
  PF17779	NOD2_WH	527 → 582	NOD2 winged helix domain	Domain
  PF17776	NLRC4_HD2	584 → 702	NLRC4 helical domain HD2	Domain
  PF13516	LRR_6	892 → 915	Leucine Rich repeat	Repeat
  PF13516	LRR_6	1006 → 1029	Leucine Rich repeat	Repeat
  PF13516	LRR_6	1063 → 1086	Leucine Rich repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in cumulus cells (at protein level) (PubMed:19542546). Highly abundant in oocytes and early embryos, however poorly expressed in somatic tissues such as the liver and spinal cord (PubMed:11925379, PubMed:30877238). {ECO:00002
• Sequence:

  MKVAGGLELGAAALLSASPRALVTLSTGPTCSILPKNPLFPQNLSSQPCIKMEGDKSLTF
  SSYGLQWCLYELDKEEFQTFKELLKKKSSESTTCSIPQFEIENANVECLALLLHEYYGAS
  LAWATSISIFENMNLRTLSEKARDDMKRHSPEDPEATMTDQGPSKEKVPGISQAVQQDSA
  TAAETKEQEISQAMEQEGATAAETEEQEISQAMEQEGATAAETEEQGHGGDTWDYKSHVM
  TKFAEEEDVRRSFENTAADWPEMQTLAGAFDSDRWGFRPRTVVLHGKSGIGKSALARRIV
  LCWAQGGLYQGMFSYVFFLPVREMQRKKESSVTEFISREWPDSQAPVTEIMSRPERLLFI
  IDGFDDLGSVLNNDTKLCKDWAEKQPPFTLIRSLLRKVLLPESFLIVTVRDVGTEKLKSE
  VVSPRYLLVRGISGEQRIHLLLERGIGEHQKTQGLRAIMNNRELLDQCQVPAVGSLICVA
  LQLQDVVGESVAPFNQTLTGLHAAFVFHQLTPRGVVRRCLNLEERVVLKRFCRMAVEGVW
  NRKSVFDGDDLMVQGLGESELRALFHMNILLPDSHCEEYYTFFHLSLQDFCAALYYVLEG
  LEIEPALCPLYVEKTKRSMELKQAGFHIHSLWMKRFLFGLVSEDVRRPLEVLLGCPVPLG
  VKQKLLHWVSLLGQQPNATTPGDTLDAFHCLFETQDKEFVRLALNSFQEVWLPINQNLDL
  IASSFCLQHCPYLRKIRVDVKGIFPRDESAEACPVVPLWMRDKTLIEEQWEDFCSMLGTH
  PHLRQLDLGSSILTERAMKTLCAKLRHPTCKIQTLMFRNAQITPGVQHLWRIVMANRNLR
  SLNLGGTHLKEEDVRMACEALKHPKCLLESLRLDCCGLTHACYLKISQILTTSPSLKSLS
  LAGNKVTDQGVMPLSDALRVSQCALQKLILEDCGITATGCQSLASALVSNRSLTHLCLSN
  NSLGNEGVNLLCRSMRLPHCSLQRLMLNQCHLDTAGCGFLALALMGNSWLTHLSLSMNPV
  EDNGVKLLCEVMREPSCHLQDLELVKCHLTAACCESLSCVISRSRHLKSLDLTDNALGDG
  GVAALCEGLKQKNSVLARLGLKACGLTSDCCEALSLALSCNRHLTSLNLVQNNFSPKGMM
  KLCSAFACPTSNLQIIGLWKWQYPVQIRKLLEEVQLLKPRVVIDGSWHSFDEDDRYWWKN
  

• Sequence length: 1200

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Inherited oocyte maturation defect	Likely pathogenic; Pathogenic	rs1411539218, rs759339985	RCV002267584 RCV002267586	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oocyte/zygote/embryo maturation arrest 19	Likely pathogenic; Pathogenic	rs1411539218, rs759339985, rs1255066720, rs1235069213, rs2514452515, rs1381057964, rs769276313	RCV003222409 RCV003222410 RCV003221759 RCV003221760 RCV003221761 RCV003221762 RCV003221763	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Preimplantation lethality	Likely pathogenic	rs1982970899	RCV003160161	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHIC MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NLRP5-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Toriello-Lacassie-Droste syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Abortion Habitual	Associate	31829238	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Associate	26323243	★☆☆☆☆ Found in Text Mining only
Autoimmune polyendocrinopathy syndrome type 1	Associate	18322283	★☆☆☆☆ Found in Text Mining only
Beckwith Wiedemann Syndrome	Associate	31829238	★☆☆☆☆ Found in Text Mining only
Beta ketothiolase deficiency	Associate	30218098	★☆☆☆☆ Found in Text Mining only
Birk Barel Mental Retardation Dysmorphism Syndrome	Associate	26323243, 31829238, 35296332	★☆☆☆☆ Found in Text Mining only
Blindness	Associate	33877510	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Associate	35091966, 35946397, 40225929	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	29928061	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Associate	26323243	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Associate	35946397	★☆☆☆☆ Found in Text Mining only
Early Onset Glaucoma	Associate	35946397	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	33237934	★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Associate	18322283	★☆☆☆☆ Found in Text Mining only
Infertility	Associate	26323243, 35091966	★☆☆☆☆ Found in Text Mining only
Infertility Female	Associate	33073652, 35091966, 40225929	★☆☆☆☆ Found in Text Mining only
Pre Eclampsia	Associate	35296332	★☆☆☆☆ Found in Text Mining only
Primary Ovarian Insufficiency	Associate	17140574	★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Associate	33073652, 35946397	★☆☆☆☆ Found in Text Mining only
Reproductive Tract Infections	Associate	26323243	★☆☆☆☆ Found in Text Mining only
Voice Disorders	Associate	31829238	★☆☆☆☆ Found in Text Mining only