2. Gene
  3. CMAS - cytidine monophosphate N-acetylneuraminic acid synthetase Gene

CMAS - cytidine monophosphate N-acetylneuraminic acid synthetase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：胞苷一磷酸 N-乙酰神经氨酸合成酶

种属: Homo sapiens

同用名: CSS

基因 ID: 55907 | 基因类型: protein coding

关于 CMAS

Cytogenetic location: 12p12.1 Genomic coordinates (GRCh38): 12:22,046,218-22,065,668 (from NCBI)

This gene has 5 transcripts (splice variants) and 249 orthologues. Ubiquitous expression in testis (RPKM 46.2), colon (RPKM 38.5) and 25 other tissues.

功能概要

该基因编码一种酶，可将 N-乙酰神经氨酸 (NeuNAc) 转化为胞苷 5'-单磷酸 N-乙酰神经氨酸 (CMP-NeuNAc) 。这个过程对于唾液酸化糖蛋白和糖脂的形成很重要。这种修饰在细胞间通讯和免疫反应中发挥作用。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 2 月]

This gene encodes an Enzyme that converts N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc). This process is important in the formation of sialylated glycoprotein and glycolipids. This modification plays a role in cell-cell communications and immune responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

CMAS 基因产物(1)

mRNA Protein Name
NM_018686.6 NP_061156.1 N-acylneuraminate cytidylyltransferase
基因本体论
  • 生物过程
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 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

CMAS 蛋白结构

CTP_transf_3

CTP_transf_3: Cytidylyltransferase (46 - 276)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 434 a.a.
蛋白主名 其他名称

N-acylneuraminate cytidylyltransferase

CMP-N-acetylneuraminic acid synthase

关联疾病

疾病名称 别名
Palmoplantar Keratoderma And Congenital Alopecia 2

Cataract-Alopecia-Sclerodactyly Syndrome

Cass

Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia

PPKCA2

Autosomal Recessive Palmoplantar Hyperkeratosis And Congenital Alopecia

Palmoplantar Keratoderma And Congenital Alopecia, Wallis Type

Ppk-Ca, Wallis Type

Cataract, Alopecia, Sclerodactyly

Ppkca, Wallis Type

Ppkca Wallis Type

Cataract, Alopecia, Sclerodactyly Syndrome
Coffin-Siris Syndrome 2

CSS2

Mrd14

Mental Retardation, Autosomal Dominant 14

Autosomal Dominant Mental Retardation 14

Coffin-Siris Syndrome, Type 2
Coffin-Siris Syndrome 4

CSS4

Mrd16

Mental Retardation, Autosomal Dominant 16

Autosomal Dominant Mental Retardation 16

Coffin-Siris Syndrome, Type 4
Brooke-Spiegler Syndrome

Cyld Cutaneous Syndrome

Spiegler-Brooke Syndrome

Familial Cylindromatosis

BRSS

Bss

Sbs

Multiple Familial Trichoepithelioma

Ancell-Spiegler Cylindromas

Familial Multiple Trichoepithelioma

Trichoepithelioma

Fc

Mft

Multiple Familial Trichoepitheliomas

Ccs

Turban Tumor Syndrome

Schilbach-Rott Syndrome

Eccrine Dermal Cylindroma

Familial Multiple Trichoepitheliomata
Parotid Disease

Parotid Diseases
Siderosis

Pulmonary Siderosis

Deposition Of Iron

Arc-Welders' Disease

Arc-Welders' Lung

Arc-Welders' Nodulation

Arc-Welders' Pneumoconiosis

Iron Oxide Lung

Iron Pneumoconiosis

Pneumoconiosis Siderotico

Siderotic Lung Disease

Steel Grinders' Disease

Welders' Lung

Welders' Siderosis

Lung Fibrosis With Siderosis
Hemosiderosis

Haemosiderosis

Iron Overload
Parotitis
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

相关产品

Pre-clinical Phase
生物活性分子 (8)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-134923 CA77.1 Inducer 99.98% 否
HY-101106 AR7 Antagonist 99.38% 否
HY-112483 QX77 Inducer 99.48% 否
HY-112486 TA-316 98.04% 否
HY-155747 FDW028 Inhibitor 99.51% 否
HY-P1098B Ac2-26 ammonium Degrader 97.22% 否
HY-RS02853 CMA1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS02854 CMAS 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 CMAS VGNC VGNC:60993
Rattus norvegicus CMAS RGD RGD:1310911
Mus musculus CMAS MGD MGI:1337124
Macaca mulatta CMAS VGNC VGNC:71201
Canis familiaris CMAS VGNC VGNC:39375
Bos taurus CMAS VGNC VGNC:27476
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