2. Gene
  3. PMM1 - phosphomannomutase 1 Gene

PMM1 - phosphomannomutase 1 Gene

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

中文名称：磷酸甘露糖变位酶 1

种属: Homo sapiens

同用名: PMM 1; Sec53; PMMH-22

基因 ID: 5372 | 基因类型: protein coding

关于 PMM1

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:41,576,900-41,589,840 (from NCBI)

This gene has 9 transcripts (splice variants), 212 orthologues and 1 paralogue. Ubiquitous expression in kidney (RPKM 25.6), ovary (RPKM 25.1) and 25 other tissues.

功能概要

磷酸甘露糖变位酶催化 D-甘露糖 6-磷酸和 D-甘露糖 1-磷酸之间的转化，D-甘露糖 1-磷酸是 GDP-甘露糖合成的底物。 GDP-甘露糖用于合成多萜醇-磷酸-甘露糖，它对于 N-连接糖基化以及多种糖蛋白的分泌以及糖基-磷脂酰-肌醇 (GPI) 锚定蛋白的合成至关重要。[RefSeq 提供，2008 年 7 月]

Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins. [provided by RefSeq, Jul 2008]

PMM1 基因产物(1)

mRNA Protein Name
NM_002676.3 NP_002667.2 phosphomannomutase 1
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 phosphomannomutase activity EXP
EXP: 通过实验结果推断
16540464 GOA
enables phosphomannomutase activity IDA
IDA: 通过直接分析推断
16540464 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mannose metabolic process IDA
IDA: 通过直接分析推断
16540464 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

PMM1 蛋白结构

PMM

PMM: Eukaryotic phosphomannomutase (36 - 255)

  • 0
  • 100
  • 200
  • 262 a.a.
蛋白主名 其他名称

phosphomannomutase 1

brain glucose-1,6-bisphosphatase

重组 PMM1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71216 PMM1 Protein, Human (His) Q92871 (M1-A262) ≥95%

关联疾病

疾病名称 别名
Immunodeficiency 24

Severe Combined Immunodeficiency Due To Ctps1 Deficiency

IMD24

Scid Due To Ctps1 Deficiency

Immunodeficiency, Type 24
Non-Syndromic X-Linked Intellectual Disability 14

Mrx14
Congenital Disorder Of Glycosylation, Type Ia

CDG1A

Cdg Ia

Phosphomannomutase 2 Deficiency

Jaeken Syndrome

Pmm2-Congenital Disorder Of Glycosylation

Congenital Disorder Of Glycosylation Type Ia

Cdgia

Congenital Disorder Of Glycosylation Ia

Congenital Disorder Of Glycosylation 1a

Carbohydrate-Deficient Glycoprotein Syndrome Type Ia

Cdgs1a

Pmm2-Cdg

Cdg-Ia

Congenital Disorder Of Glycosylation Type 1a

Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly

Pmm Deficiency

Cdg Syndrome Type Ia

Carbohydrate Deficient Glycoprotein Syndrome Type Ia

Cdg Syndrome Type 1a

Jaeken'S Syndrome

Pmm2 Deficiency

Glycosylation, Congenital Disorder Of, Type Ia
Wrinkly Skin Syndrome

WSS

Wrinkled Skin Syndrome
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
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10766 PMM1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus PMM1 VGNC VGNC:33072
Felis catus PMM1 VGNC VGNC:68921
Canis familiaris PMM1 VGNC VGNC:44733
Rattus norvegicus PMM1 RGD RGD:1310897
Macaca mulatta PMM1 VGNC VGNC:76192
Mus musculus PMM1 MGD MGI:1353418
Others PMM1 NCBI
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