2. Gene
  3. NLRP5 - NLR family pyrin domain containing 5 Gene

NLRP5 - NLR family pyrin domain containing 5 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 126206 | Gene type: protein coding

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

NLRP5 Protein Structure

PYRIN

PYRIN: PAAD/DAPIN/Pyrin domain (62 - 143)

NACHT

NACHT: NACHT domain (280 - 443)

LRR_6

LRR_6: Leucine Rich repeat (894 - 915)

LRR_6

LRR_6: Leucine Rich repeat (924 - 945)

LRR_6

LRR_6: Leucine Rich repeat (950 - 972)

LRR_6

LRR_6: Leucine Rich repeat (1007 - 1030)

LRR_6

LRR_6: Leucine Rich repeat (1065 - 1087)

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Protein Preferred Names Protein Names

NACHT, LRR and PYD domains-containing protein 5

NACHT, leucine rich repeat and PYD containing 5

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS09361 NLRP5 Human Pre-designed siRNA Set A / 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