1. Gene
  2. PGM5 - phosphoglucomutase 5 Gene

PGM5 - phosphoglucomutase 5 Gene

中文名称:磷酸葡萄糖变位酶 5

种属: Homo sapiens

同用名: PGMRP

基因 ID: 5239 | 基因类型: protein coding

关于 PGM5

Cytogenetic location: 9q21.11 Genomic coordinates (GRCh38): 9:68,356,611-68,531,061 (from NCBI)

This gene has 7 transcripts (splice variants), 208 orthologues and 6 paralogues. Broad expression in prostate (RPKM 50.4), esophagus (RPKM 35.1) and 15 other tissues.

功能概要

磷酸葡萄糖变位酶 (EC 5.2.2.2.) ,例如 PGM5,是参与 1-磷酸葡萄糖和 6-磷酸葡萄糖相互转化的磷酸转移酶。 PGM 活性对于从 6-磷酸葡萄糖形成碳水化合物以及从半乳糖和糖原形成 6-磷酸葡萄糖是必不可少的 (Edwards 等人,1995 [PubMed 8586438]) 。[OMIM 提供,2008 年 3 月]

Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are phosphotransferases involved in interconversion of glucose-1-phosphate and glucose-6-phosphate. PGM activity is essential in formation of carbohydrates from glucose-6-phosphate and in formation of glucose-6-phosphate from galactose and glycogen (Edwards et al., 1995 [PubMed 8586438]).[supplied by OMIM, Mar 2008]

PGM5 基因产物(1)

mRNA Protein Name
NM_021965.4 NP_068800.2 phosphoglucomutase-like 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
NOT enables phosphoglucomutase activity IDA
IDA: 通过直接分析推断
8175905 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in adherens junction IDA
IDA: 通过直接分析推断
8175905 GOA
located in costamere IDA
IDA: 通过直接分析推断
8175905 GOA
located in cytoplasmic side of plasma membrane IDA
IDA: 通过直接分析推断
10867799 GOA
located in focal adhesion IDA
IDA: 通过直接分析推断
8175905 GOA
located in intercalated disc IDA
IDA: 通过直接分析推断
8175905 GOA
located in sarcolemma IDA
IDA: 通过直接分析推断
10867799 GOA
located in spot adherens junction IDA
IDA: 通过直接分析推断
8175905 GOA
located in stress fiber IDA
IDA: 通过直接分析推断
8175905 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

PGM5 蛋白结构

PGM_PMM_I

PGM_PMM_I: Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I (23 - 162)

PGM_PMM_II

PGM_PMM_II: Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain II (218 - 305)

PGM_PMM_III

PGM_PMM_III: Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain III (312 - 425)

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  • 500
  • 567 a.a.
蛋白主名 其他名称

phosphoglucomutase-like protein 5

PGM-RP

关联疾病

疾病名称 别名
Noonan Syndrome 10

NS10

Noonan Syndrome, Type 10

Breast Angiosarcoma

Angiosarcoma Of The Breast

Hemangiosarcoma Of The Breast

Primary Angiosarcoma Of Breast

Myopathy, Myofibrillar, 5

Myofibrillar Myopathy 5

MFM5

Myopathy, Myofibrillar, Filamin C-Related

Filaminopathy, Autosomal Dominant

Filaminopathy

Muscle Filaminopathy

Autosomal Dominant Filaminopathy

Mfm Filamin C-Related

Myopathy Myofibrillar Filamin C-Related

Myopathy, Myofibrillar, Type 5

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

直系同源

种属 基因名 来源 基因 ID
Felis catus PGM5 VGNC VGNC:68820
Rattus norvegicus PGM5 RGD RGD:1307969
Mus musculus PGM5 MGD MGI:1925668
Canis familiaris PGM5 VGNC VGNC:49942
Macaca mulatta PGM5 VGNC VGNC:75971
Bos taurus PGM5 VGNC VGNC:32797