NLRP5 - NLR family pyrin domain containing 5 Gene

Also Known as MATER; NALP5; PAN11; PYPAF8; CLR19.8

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 126206

About NLRP5

Cytogenetic location: 19q13.43 Genomic coordinates (GRCh38): 19:55,999,726-56,061,810 (from NCBI)

This gene has 2 transcripts (splice variants), 77 orthologues and 20 paralogues. Low expression observed in reference dataset.

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]

NLRP5 Products (1)

mRNA	Protein	Name
NM_153447.4	NP_703148.4	NACHT, LRR and PYD domains-containing protein 5

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19542546	GOA
enables tubulin binding	IPI IPI: Inferred from physical interaction	24374158	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	19192343	GOA
located in cortical granule	IDA IDA: Inferred from direct assay	19192343	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	19192343	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	19192343	GOA
located in nucleus	IDA IDA: Inferred from direct assay	19192343	GOA
part of subcortical maternal complex	IDA IDA: Inferred from direct assay	25542835	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NLRP5 Protein Structure

PYRIN

NACHT

LRR_6

0
200
400
600
800
1000
1200 a.a.

Protein Preferred Names	Protein Names
NACHT, LRR and PYD domains-containing protein 5	NACHT, leucine rich repeat and PYD containing 5

NLRP5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NLRP5	P59047	OOEP	Homo sapiens	A6NGQ2	Anti Tag CoIP	25542835
Intra	NLRP5	P59047	KHDC3L	Homo sapiens	Q587J8	Anti Tag CoIP	25542835
Intra	NLRP5	P59047	TLE6	Homo sapiens	Q9H808-1	Anti Tag CoIP	25542835

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Preimplantation Embryonic Lethality 1	Preimplantation Embryonic Lethality PREMBL1 Prembl Lethality, Embryonic, Preimplantation Lethality, Embryonic, Preimplantation, Type 1
Autoimmune Polyendocrine Syndrome Type 1	Whitaker Syndrome Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Autoimmune Polyglandular Syndrome I Polyglandular Type I Autoimmune Syndrome
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Autoimmune Polyendocrine Syndrome	Autoimmune Polyendocrinopathy Autoimmune Polyglandular Failure Autoimmune Polyglandular Syndrome Polyendocrinopathies, Autoimmune Lloyd'S Syndrome Aps Polyendocrinopathies Autoimmune Polyendocrine Autoimmunity Syndrome Lloyd Syndrome Polyglandular Autoimmune Deficiency Progressive Pluriglandular Insufficiency Pluriglandular Autoimmune Atrophy Pluriglandular Autoimmune Syndrome Thyroid-Adrenocortical Insufficiency Syndrome
Familial Cold Autoinflammatory Syndrome 1	Cold Hypersensitivity Cold-Induced Autoinflammatory Syndrome, Familial FCAS1 Fcas Fcu Cryopyrin-Associated Periodic Syndrome 1 Caps1 Familial Cold Urticaria Cold Urticaria, Familial Familial Cold Inflammatory Syndrome 1 Familial Cold-Induced Autoinflammatory Syndrome Autoinflammatory Syndrome, Cold, Familial, Type 1
Gestational Trophoblastic Neoplasm	Hydatidiform Mole Molar Pregnancy Gestational Trophoblastic Neoplasia Gestational Trophoblastic Tumor Gtn Gestational Trophoblastic Disease Gestational Trophoblastic Neoplasms Hydatidiform Mole, Recurrent, 1 Hydatidiform Mole Benign Trophoblastic Disease Trophoblastic Disease Nos Trophoblastic Disorder Vesicular Mole Nos Vesicular Mole Hydatidiform Mole Nos
Night Blindness, Congenital Stationary, Type 1d	Congenital Stationary Night Blindness 1d CSNB1D Csnb, Complete, Autosomal Recessive Night Blindness, Congenital Stationary , 1d, Autosomal Recessive Congenital Stationary Night Blindness 1d Autosomal Recessive Night Blindness, Congenital Stationary, 1d Complete Autosomal Recessive Csnb Blindness, Night, Stationary, Congenital, Type 1d
Trophoblastic Neoplasm	Trophoblastic Tumor Trophoblastic Neoplasms
Substernal Goiter	Retrosternal Thyroid Goiter Retrosternal Thyroid Goitre Substernal Goitre Goiter, Substernal
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism Type 1b PHP1B Pseudohypoparathyroidism Ib Pseudohypoparathyroidism Type Ib Php Ib Pseudohypoparathyroidism 1b
Adrenal Cortical Hypofunction	Adrenal Cortical Insufficiency Corticoadrenal Insufficiency
Transient Neonatal Diabetes Mellitus	Diabetes Mellitus, Transient Neonatal Tndm Chromosome 6-Associated Transient Diabetes Mellitus Dmtn Diabetes Mellitus, 6q24-Related Transient Neonatal Tndm1 Neonatal Diabetes Mellitus, Transient Tndm -[Transient Neonatal Diabetes Mellitus]
Chronic Mucocutaneous Candidiasis	Candidiasis, Chronic Mucocutaneous Cmc Candidiasis Chronic Mucocutaneous
Temple Syndrome	Uniparental Disomy, Maternal, Chromosome 14 Temple Syndrome Due To Paternal 14q32.2 Microdeletion Paternal Del(14)(Q32.2) Temple Syndrome Due To Paternal 14q32.2 Hypomethylation Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 Upd(14)Mat
Kagami-Ogata Syndrome	Paternal Uniparental Disomy Of Chromosome 14 Uniparental Disomy, Paternal, Chromosome 14 Kos Mca Due To 14q32.2 Maternally Expressed Gene Defect Paternal Uniparental Disomy 14 Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion Maternal Del(14)(Q32.2) Maternal Monosomy 14q32.2 Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 Upd(14)Pat
Silver-Russell Syndrome 1	Silver-Russell Syndrome Russell-Silver Syndrome Silver-Russell Dwarfism Rss SRS1 Srs Silver Russell Dwarfism Russell Silver Syndrome Silver Russell Syndrome
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Nail Disease	Nail Diseases Abnormality Of The Nail Nail Anomaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09361	NLRP5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NLRP5	VGNC	VGNC:43849
Felis catus	NLRP5	VGNC	VGNC:63832
Bos taurus	NLRP5	VGNC	VGNC:32118
Rattus norvegicus	NLRP5	RGD	RGD:1307446
Mus musculus	NLRP5	MGD	MGI:1345193
Others	NLRP5	NCBI