1. Gene
  2. PGGHG - protein-glucosylgalactosylhydroxylysine glucosidase Gene

PGGHG - protein-glucosylgalactosylhydroxylysine glucosidase Gene

中文名称:蛋白质-葡萄糖基半乳糖基羟赖氨酸葡糖苷酶

种属: Homo sapiens

同用名: ATHL1

基因 ID: 80162 | 基因类型: protein coding

关于 PGGHG

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:289,126-296,107 (from NCBI)

This gene has 8 transcripts (splice variants) and 190 orthologues. Broad expression in lymph node (RPKM 33.9), pancreas (RPKM 29.5) and 24 other tissues.

功能概要

启用蛋白质-葡萄糖基半乳糖基羟赖氨酸葡萄糖苷酶活性。参与碳水化合物代谢过程。位于胞质溶胶中。 [由基因组资源联盟提供,2022 年 4 月]

Enables protein-glucosylgalactosylhydroxylysine glucosidase activity. Involved in carbohydrate metabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

PGGHG 基因产物(1)

mRNA Protein Name
NM_025092.5 NP_079368.3 protein-glucosylgalactosylhydroxylysine glucosidase
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 protein-glucosylgalactosylhydroxylysine glucosidase activity IDA
IDA: 通过直接分析推断
26682924 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in carbohydrate metabolic process IDA
IDA: 通过直接分析推断
26682924 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

PGGHG 蛋白结构

Glyco_hydro_65m

Glyco_hydro_65m: Glycosyl hydrolase family 65 central catalytic domain (259 - 605)

  • 0
  • 200
  • 400
  • 600
  • 737 a.a.
蛋白主名 其他名称

protein-glucosylgalactosylhydroxylysine glucosidase

ATH1, acid trehalase-like 1

关联疾病

疾病名称 别名
Hemophagocytic Lymphohistiocytosis, Familial, 3

Familial Hemophagocytic Lymphohistiocytosis 3

FHL3

Hplh3

Hlh3

Lymphohistiocytosis, Hemophagocytic, Familial, Type 3

Hypoparathyroidism, X-Linked

HYPX

X-Linked Hypoparathyroidism

Parathyroid Glands, Agenesis Of

Agenesis Of Parathyroid Glands

Hypoparathyroidism X-Linked

Hypoparathyroidism - X-Linked

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
Bos taurus PGGHG VGNC VGNC:57356
Felis catus PGGHG VGNC VGNC:64122
Canis familiaris PGGHG VGNC VGNC:44458
Rattus norvegicus PGGHG RGD RGD:1306015
Macaca mulatta PGGHG VGNC VGNC:75870
Mus musculus PGGHG MGD MGI:2444047