NANS - N-acetylneuraminate synthase Gene

中文名称：N-乙酰神经氨酸合酶

种属: Homo sapiens

同用名: SAS; SEMDG; SEMDCG; HEL-S-100

基因 ID: 54187 | 基因类型: protein coding

关于 NANS

Cytogenetic location: 9q22.33 Genomic coordinates (GRCh38): 9:98,056,732-98,083,077 (from NCBI)

This gene has 6 transcripts (splice variants), 260 orthologues and is associated with 3 phenotypes. Broad expression in colon (RPKM 65.2), prostate (RPKM 43.3) and 25 other tissues.

功能概要

该基因编码一种在唾液酸生物合成途径中起作用的酶。在体外，编码的蛋白质使用 N-乙酰甘露糖胺 6-磷酸和甘露糖 6-磷酸作为底物，生成磷酸化形式的 N-乙酰神经氨酸 (Neu5Ac) 和 2-keto-3-deoxy-D-glycero-D-galacto-nononic 酸 (KDN) ；然而，它对 Neu5Ac 磷酸盐产物表现出更高的活性。在昆虫细胞中，该基因的表达导致 Neu5Ac 和 KDN 的产生。该基因与大肠杆菌唾液酸合成酶基因 neuB 有关，它可以部分恢复大肠杆菌 neuB 阴性突变体中的唾液酸合成酶活性。[RefSeq 提供，2008 年 7 月]

This gene encodes an Enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN), respectively; however, it exhibits much higher activity toward the Neu5Ac phosphate product. In insect cells, expression of this gene results in Neu5Ac and KDN production. This gene is related to the E. coli sialic acid synthase gene neuB, and it can partially restore sialic acid synthase activity in an E. coli neuB-negative mutant. [provided by RefSeq, Jul 2008]

NANS 基因产物(1)

mRNA	Protein	Name
NM_018946.4	NP_061819.2	sialic acid synthase

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables N-acylneuraminate-9-phosphate synthase activity	IDA IDA: 通过直接分析推断	10749855	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in CMP-N-acetylneuraminate biosynthetic process	IMP IMP: 通过突变表型推断	31121216	GOA
involved in N-acetylneuraminate biosynthetic process	IMP IMP: 通过突变表型推断	31121216	GOA
involved in glycosylation	IMP IMP: 通过突变表型推断	31121216	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

NANS 蛋白结构

NeuB

SAF

0
100
200
300
359 a.a.

蛋白主名

其他名称

sialic acid synthase

N-acetylneuraminate-9-phosphate synthase

重组 NANS 蛋白

目录号	产品名	蛋白编号	纯度
HY-P70959	NANS Protein, Human (His)	AAH19315.1 (M1-S359)	≥95%

关联疾病

疾病名称

别名

Spondyloepimetaphyseal Dysplasia, Genevieve Type

SEMDG	Semd, Genevieve Type
Nans Deficiency	Semd Genevieve Type
Spondyloepimetaphyseal Dysplasia, Camera-Genevieve Type	Spondyloepimetaphyseal Dysplasia, Genevieve-Type
Spondyloepimetaphyseal Dysplasia Genevieve Type	Dysplasia, Spondyloepimetaphyseal, Camera-Genevieve Type

Spondyloepimetaphyseal Dysplasia

Dysplasia, Spondyloepimetaphyseal

Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Sponastrime Dysplasia	Spondylar And Nasal Alterations With Striated Metaphyses
SEMDSP	Short-Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation
Spondylar And Nasal Alterations-Striated Metaphyses Syndrome	Spondyloepimetaphyseal Dysplasia Sponastrime Type
Short Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation	Spondylar And Nasal Changes With Striations Of The Metaphyses Dysplasia
Short Limb Dwarfism With Saddle Nose, Spinal Alterations And Metaphyseal Striation	Dysplasia, Spondyloepimetaphyseal, Sponastrime Type

Developmental And Epileptic Encephalopathy 36

Congenital Disorder Of Glycosylation Type I	Epileptic Encephalopathy, Early Infantile, 36
Congenital Disorder Of Glycosylation, Type Is	Cdg1s
Congenital Disorder Of Glycosylation, Type Ie	CDG1E
Congenital Disorder Of Glycosylation Type 1e	DEE36
Eiee36	Cdg Is
Cdgis	Congenital Disorder Of Glycosylation Ie
Congenital Disorder Of Glycosylation 1e	Cdg-Is
Congenital Disorder Of Glycosylation Type Is	Developmental And Epileptic Encephalopathy, 36
Cdg Ie	Cdgie
Early Infantile Epileptic Encephalopathy 36	Alg13-Cdg
Cdg Syndrome Type Is	Congenital Disorder Of Glycosylation Type 1s
Dpm1-Cdg	Cdg Syndrome Type Ie
Cdg-Ie	Carbohydrate Deficient Glycoprotein Syndrome Type Ie
Congenital Disorder Of Glycosylation Type Ie	Dol-P-Mannosyltransferase Deficiency
Congenital Disorder Of Glycosylation 1s	Glycosylation, Congenital Disorder Of, Type I
Glycosylation, Congenital Disorder Of, Type Ie	Congenital Disorder Of Glycosylation Type 1a
Congenital Disorder Of Glycosylation, Type Iu

Adenoid Hypertrophy

Hypertrophy Of Adenoids	Adenoidal Hypertrophy
Enlarged Adenoids	Enlargement Of Adenoids
Adenoidal Enlargement	Adenoids, Hypertrophy
Hypertrophy Of Adenoids Alone	Adenoid Growth
Hyperplasia Of Adenoids	Hypertrophy Of Pharyngeal Tonsil

Developmental And Epileptic Encephalopathy 42

DEE42	Epileptic Encephalopathy, Early Infantile, 42
Eiee42	Developmental And Epileptic Encephalopathy, 42
Early Infantile Epileptic Encephalopathy 42	Encephalopathy, Epileptic, Early Infantile, Type 42

Immunodeficiency 23

Cid Due To Pgm3 Deficiency	Combined Immunodeficiency Due To Pgm3 Deficiency
Pgm3-Cdg	Pgm3-Related Congenital Disorder Of Glycosylation
IMD23	Immunodeficiency With Hyper Ige And Cognitive Impairment
Immunodeficiency-Vasculitis-Myoclonus Syndrome	Ivms
Phosphoglucomutase 3 Deficiency	Phosphoglucomutase Deficiency Type 3
Pgm3-Congenital Disorder Of Glycosylation	Agm1 Deficiency
Deficiency Of N-Acetylglucosamine-Phosphate Mutase 1	Deficiency Of Phosphoglucomutase 3
Pgm3 Deficiency	Immunodeficiency, Type 23

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg Syndrome	Congenital Disorder Of Glycosylation In
Carbohydrate-Deficient Glycoprotein Syndromes	Cdg Syndrome Type In
Carbohydrate Deficient Glycoprotein Syndrome Type In	Congenital Disorder Of Glycosylation Type 1n
Man5glcnac2-Pp-Dol Flippase Deficiency	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

Orofacial Cleft

Cleft, Orofacial

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-19818A	NAN-190 hydrobromide	Antagonist	99.11%	否
HY-19818	NAN-190		/	否
HY-RS09025	NANS Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-124449	Afidopyropen	Modulator	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	NANS	VGNC	VGNC:43615
Mus musculus	NANS	MGD	MGI:2149820
Rattus norvegicus	NANS	RGD	RGD:1311943
Bos taurus	NANS	VGNC	VGNC:31878
Felis catus	NANS	VGNC	VGNC:102954
Others	NANS	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）

NANS - N-acetylneuraminate synthase Gene

关于 NANS

功能概要

NANS 基因产物(1)

NANS 蛋白结构

重组 NANS 蛋白

关联疾病

直系同源

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NANS - N-acetylneuraminate synthase Gene

关于 NANS

功能概要

NANS 基因产物(1)

NANS 蛋白结构

重组 NANS 蛋白

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

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