1. Gene
  2. GDPD5 - glycerophosphodiester phosphodiesterase domain containing 5 Gene

GDPD5 - glycerophosphodiester phosphodiesterase domain containing 5 Gene

中文名称:含甘油磷酸二酯磷酸二酯酶结构域 5

种属: Homo sapiens

同用名: GDE2; PP1665

基因 ID: 81544 | 基因类型: protein coding

关于 GDPD5

Cytogenetic location: 11q13.4-q13.5 Genomic coordinates (GRCh38): 11:75,434,640-75,525,941 (from NCBI)

This gene has 17 transcripts (splice variants), 274 orthologues and 5 paralogues. Broad expression in spleen (RPKM 16.9), fat (RPKM 8.6) and 14 other tissues.

功能概要

甘油磷酸二酯磷酸二酯酶 (GDPDs;EC 3.1.4.46) ,例如 GDPD5,参与甘油代谢 (Lang 等人,2008 [PubMed 17578682]) 。[OMIM 提供,2010 年 1 月]

Glycerophosphodiester phosphodiesterases (GDPDs; EC 3.1.4.46), such as GDPD5, are involved in glycerol metabolism (Lang et al., 2008 [PubMed 17578682]).[supplied by OMIM, Jan 2010]

GDPD5 基因产物(3)

mRNA Protein Name
NM_001351167.2 NP_001338096.1 glycerophosphodiester phosphodiesterase domain-containing protein 5 isoform 2
NM_001351168.1 NP_001338097.1 glycerophosphodiester phosphodiesterase domain-containing protein 5 isoform 3
NM_030792.8 NP_110419.5 glycerophosphodiester phosphodiesterase domain-containing protein 5 isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 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

GDPD5 蛋白结构

GDPD

GDPD: Glycerophosphoryl diester phosphodiesterase family (233 - 359)

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  • 605 a.a.
蛋白主名 其他名称

glycerophosphodiester phosphodiesterase domain-containing protein 5

glycerophosphocholine phosphodiesterase GDPD5

GDPD5 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra GDPD5 Q8WTR4 PEX5 Homo sapiens P50542
Validated Y2H
25416956
Intra GDPD5 Q8WTR4 PEX5 Homo sapiens P50542
Y2H Array
25416956
Intra GDPD5 Q8WTR4 SIAH1 Homo sapiens Q8IUQ4
Validated Y2H
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Dominant 41

MRD41

Autosomal Dominant Non-Syndromic Intellectual Disability 41

Mental Retardation, Autosomal Dominant 41

Autosomal Dominant Intellectual Developmental Disorder 41

Autosomal Dominant Mental Retardation 41

Mental Retardation, Autosomal Dominant, Type 41

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

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
Rattus norvegicus GDPD5 RGD RGD:1559673
Felis catus GDPD5 VGNC VGNC:62511
Macaca mulatta GDPD5 VGNC VGNC:72801
Canis familiaris GDPD5 VGNC VGNC:41170
Bos taurus GDPD5 VGNC VGNC:29313
Mus musculus GDPD5 MGD MGI:2686926