NLRP5 - NLR family pyrin domain containing 5 Gene

中文名称：含 NLR 家族 pyrin 结构域 5

种属: Homo sapiens

同用名: MATER; NALP5; PAN11; PYPAF8; CLR19.8

基因 ID: 126206 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质属于 NALP 蛋白家族。 NALP 蛋白家族的成员通常包含一个 NACHT 结构域、一个 NACHT 相关结构域 (NAD) 、一个 C 末端富含亮氨酸重复序列 (LRR) 区域和一个 N 末端热蛋白结构域 (PYD) 。该基因的表达仅限于卵母细胞。小鼠基因编码母体卵母细胞蛋白，类似于这种编码蛋白，是正常早期胚胎发生所必需的。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

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

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	19542546	GOA
enables tubulin binding	IPI IPI: 通过物理相互作用推断	24374158	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in Golgi apparatus	IDA IDA: 通过直接分析推断	19192343	GOA
located in cortical granule	IDA IDA: 通过直接分析推断	19192343	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	19192343	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	19192343	GOA
located in nucleus	IDA IDA: 通过直接分析推断	19192343	GOA
part of subcortical maternal complex	IDA IDA: 通过直接分析推断	25542835	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

NLRP5 蛋白结构

PYRIN

NACHT

LRR_6

0
200
400
600
800
1000
1200 a.a.

蛋白主名

其他名称

NACHT, LRR and PYD domains-containing protein 5

NACHT, leucine rich repeat and PYD containing 5

NLRP5 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	NLRP5	P59047	OOEP	Homo sapiens	A6NGQ2	Anti Tag CoIP	25542835
种属内	NLRP5	P59047	KHDC3L	Homo sapiens	Q587J8	Anti Tag CoIP	25542835
种属内	NLRP5	P59047	TLE6	Homo sapiens	Q9H808-1	Anti Tag CoIP	25542835

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS09361	NLRP5 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

NLRP5 - NLR family pyrin domain containing 5 Gene

关于 NLRP5

功能概要

NLRP5 基因产物(1)

NLRP5 蛋白结构

NLRP5 蛋白互作信息

关联疾病

直系同源

热门区域

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NLRP5 - NLR family pyrin domain containing 5 Gene

关于 NLRP5

功能概要

NLRP5 基因产物(1)

NLRP5 蛋白结构

NLRP5 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z