1. Gene
  2. GAPDHS - glyceraldehyde-3-phosphate dehydrogenase, spermatogenic Gene

GAPDHS - glyceraldehyde-3-phosphate dehydrogenase, spermatogenic Gene

中文名称:3-磷酸甘油醛脱氢酶,生精

种属: Homo sapiens

同用名: GAPD2; GAPDS; HSD-35; GAPDH-2; HEL-S-278

基因 ID: 26330 | 基因类型: protein coding

关于 GAPDHS

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:35,533,456-35,545,319 (from NCBI)

This gene has 3 transcripts (splice variants), 189 orthologues and 1 paralogue. Biased expression in testis (RPKM 87.7) and thyroid (RPKM 2.9).

功能概要

该基因编码的蛋白质属于甘油醛-3-磷酸脱氢酶家族,在碳水化合物代谢中起重要作用。与其体细胞对应物一样,这种精子特异性酶以烟酰胺腺嘌呤二核苷酸依赖性方式发挥作用,以去除氢并将磷酸添加到甘油醛 3-磷酸中以形成 1,3-二磷酸甘油酸。在精子发生过程中,这种酶可能在调节不同能量产生途径之间的转换中发挥重要作用,并且是精子活力和男性生育能力所必需的。[RefSeq 提供,2008 年 7 月]

This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of Enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific Enzyme functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this Enzyme may play an important role in regulating the switch between different energy-producing pathways, and it is required for sperm motility and male fertility. [provided by RefSeq, Jul 2008]

GAPDHS 基因产物(1)

mRNA Protein Name
NM_014364.5 NP_055179.1 glyceraldehyde-3-phosphate dehydrogenase, testis-specific

GAPDHS 蛋白结构

Gp_dh_N

Gp_dh_N: Glyceraldehyde 3-phosphate dehydrogenase, NAD binding domain (77 - 224)

Gp_dh_C

Gp_dh_C: Glyceraldehyde 3-phosphate dehydrogenase, C-terminal domain (229 - 386)

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  • 408 a.a.
蛋白主名 其他名称

glyceraldehyde-3-phosphate dehydrogenase, testis-specific

epididymis secretory protein Li 278

关联疾病

疾病名称 别名
Ovarian Dysgenesis 2

Premature Ovarian Failure 4

ODG2

Ovarian Dysgenesis, Hypergonadotropic, X-Linked

Ovarian Failure, Hypergonadotropic, Due To Ovarian Dysgenesis

Ovarian Failure Hypergonadotropic Due To Ovarian Dysgenesis

X-Linked Hypergonadotropic Ovarian Dysgenesis

POF4

Dysgenesis, Ovarian, Type 2

Retinitis Pigmentosa 38

RP38

Rod-Cone Dystrophy, Childhood-Onset

Retinitis Pigmentosa, Type 38

Corneal Dystrophy And Perceptive Deafness

Corneal Dystrophy-Perceptive Deafness Syndrome

CDPD

Harboyan Syndrome

Cdpd1

Corneal Dystrophy And Sensorineural Deafness

Corneal Endothelial Dystrophy And Perceptive Deafness

Corneal Dystrophy With Progressive Deafness

Congenital Corneal Dystrophy, Progressive Sensorineural Deafness

Corneal Dystrophy With Progressive Hearing Loss

Corneal Dystrophy-Perceptive Hearing Loss Syndrome

Dystrophy, Corneal, Endothelial, And Perceptive Deafness

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

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 GAPDHS VGNC VGNC:29248
Macaca mulatta GAPDHS VGNC VGNC:72778
Mus musculus GAPDHS MGD MGI:95653
Rattus norvegicus GAPDHS RGD RGD:620150
Felis catus GAPDHS VGNC VGNC:62460
Canis familiaris GAPDHS VGNC VGNC:41109