NMNAT1 - nicotinamide nucleotide adenylyltransferase 1 Gene

中文名称：烟酰胺核苷酸腺苷酸转移酶 1

种属: Homo sapiens

同用名: LCA9; NMNAT; PNAT1; SHILCA

基因 ID: 64802 | 基因类型: protein coding

关于 NMNAT1

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:9,942,923-9,996,892 (from NCBI)

This gene has 5 transcripts (splice variants), 203 orthologues, 2 paralogues and is associated with 5 phenotypes. Ubiquitous expression in colon (RPKM 3.7), kidney (RPKM 3.0) and 25 other tissues.

功能概要

该基因编码一种酶，该酶催化烟酰胺腺嘌呤二核苷酸 (NAD) 生物合成中的关键步骤。编码的酶是几种烟酰胺核苷酸腺苷酸转移酶中的一种，专门定位于细胞核。这种蛋白质的活性导致核脱乙酰酶的激活，该酶的作用是保护受损的神经元。该基因的突变与 Leber 先天性黑蒙症 9 有关。可变剪接导致多个转录本变异。该基因的假基因位于 1、3、4、14 和 15 号染色体上。[RefSeq 提供，2014 年 7 月]

This gene encodes an Enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded Enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014]

NMNAT1 基因产物(3)

mRNA	Protein	Name
NM_001297778.1	NP_001284707.1	nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform 1
NM_001297779.2	NP_001284708.1	nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform 2
NM_022787.4	NP_073624.2	nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 isoform 1

NMNAT1 蛋白结构

CTP_transf_like

0
100
200
279 a.a.

蛋白主名

其他名称

nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1

NMN adenylyltransferase 1

重组 NMNAT1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P75941	NMNAT1 Protein, Human (sf9, His)	Q9HAN9 (M1-T279)	≥95%

关联疾病

疾病名称

别名

Leber Congenital Amaurosis 9

LCA9	Leber Congenital Amaurosis, Type 9

Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis

Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Intellectual Developmental Disorder, And Leber Congenital Amaurosis	Shilca Syndrome
SHILCA	Spondyloepiphyseal Dysplasia-Sensorineural Hearing Loss-Intellectual Disability-Leber Congenital Amaurosis Syndrome

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Wallerian Degeneration

Wallerian Degeneration Of The Pyramidal Tract

Diarrhea

Diarrhoea

Diarrhea Of Presumed Infectious Origin

Cone Dystrophy

Retinal Cone Dystrophy	Dystrophy, Cone
Cone Dystrophy 3

Pellagra

Niacin Deficiency	Niacin-Tryptophan Deficiency
Pellagroid Syndrome

Retinal Degeneration

Degeneration Of Retina

Keratoconus

Kc	Conical Cornea
Noninflammatory Corneal Thining	Bulging Cornea
Cornea Conical	Acquired Conus Of Cornea

Adult Hepatocellular Carcinoma

Adult Primary Hepatocellular Carcinoma	Adult Hepatoma
Adult Hcc

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Achromatopsia

Achm	Rod Monochromatism
Total Color Blindness	Rod Monochromacy
Monochromatism	Achromatism
Complete Or Incomplete Color Blindness	Pingelapese Blindness
Achromatopsia 1	Achromatopsia 2
Achromatopsia 3

Coloboma Of Macula

Coloboma	Congenital Ocular Coloboma
Microphthalmia, Isolated, With Coloboma	Agenesis Of Macula
Hereditary Macular Coloboma	Ocular Coloboma
Coloboma Of Eye	Macular Coloboma
Uveoretinal Coloboma

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary	Congenital Essential Nyctalopia
Oguchi Disease	Blindness, Night, Stationary, Congenital

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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-RS09382	NMNAT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	NMNAT1	VGNC	VGNC:63840
Mus musculus	NMNAT1	MGD	MGI:1913704
Macaca mulatta	NMNAT1	VGNC	VGNC:75204
Canis familiaris	NMNAT1	VGNC	VGNC:43862
Bos taurus	NMNAT1	VGNC	VGNC:32132
Rattus norvegicus	NMNAT1	RGD	RGD:1310996
Others	NMNAT1	NCBI

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。沪(浦)应急管危经许[2021]201709(QFYS)

站点地图隐私声明

NMNAT1 - nicotinamide nucleotide adenylyltransferase 1 Gene

关于 NMNAT1

功能概要

NMNAT1 基因产物(3)

NMNAT1 蛋白结构

重组 NMNAT1 蛋白

关联疾病

直系同源

热门区域

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NMNAT1 - nicotinamide nucleotide adenylyltransferase 1 Gene

关于 NMNAT1

功能概要

NMNAT1 基因产物(3)

NMNAT1 蛋白结构

重组 NMNAT1 蛋白

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z