GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic [Homo sapiens (human)] - Gene

Summary

Official Symbol: GAPDHSprovided by HGNC
Official Full Name: glyceraldehyde-3-phosphate dehydrogenase, spermatogenicprovided by HGNC
Primary source: HGNC:HGNC:24864
See related: Ensembl:ENSG00000105679 MIM:609169; AllianceGenome:HGNC:24864
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GAPD2; GAPDS; HSD-35; GAPDH-2; HEL-S-278
Summary: 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]
Expression: Biased expression in testis (RPKM 87.7) and thyroid (RPKM 2.9) See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.12

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (35533456..35545319)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (38078404..38090265)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (36024358..36036221)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Short Isoform of Spermatogenic Enzyme GAPDHS Functions as a Metabolic Switch and Limits Metastasis in Melanoma.
Title: A Short Isoform of Spermatogenic Enzyme GAPDHS Functions as a Metabolic Switch and Limits Metastasis in Melanoma.
GAPDS overexpression antagonize high glucose-induced apoptosis by controlling reactive oxygen species accumulation in TM3 cells.
Title: Effect of GAPDS overexpression on high glucose-induced oxidative damage.
It is assumed that the deficiency in GAPDS observed in most dysplasia of the fibrous sheath sperm samples is ascribable to a disorder in the regulation of GAPDS expression caused by the mutation in the intron region of GAPDS gene.
Title: Detection of a mutation in the intron of Sperm-specific glyceraldehyde-3-phosphate dehydrogenase gene in patients with fibrous sheath dysplasia of the sperm flagellum.
This result implies that GAPDHS participates in specific signal-transduction pathways.
Title: The proline-rich region of glyceraldehyde-3-phosphate dehydrogenase from human sperm may bind SH3 domains, as revealed by a bioinformatic study of low-complexity protein segments.
Structural basis for the NAD binding cooperativity and catalytic characteristics of sperm-specific glyceraldehyde-3-phosphate dehydrogenase
Title: Structural basis for the NAD binding cooperativity and catalytic characteristics of sperm-specific glyceraldehyde-3-phosphate dehydrogenase.
GAPDS protein was expressed in both Sertoli cells and elongated sperms. The expression of GAPDS gradually increased with age in the epididymis.
Title: Location and characterization of GAPDS in male reproduction.
Data indicate that the positive expression of studied genes fertilization rate for GAPDHS positive subset was 66%, ACR - 71%, SPATA22 - 68%, MND1 - 70%, pregnancy rates were 8%, 6%, 18% and 36% respectively.
Title: Expression analysis of MND1/GAJ, SPATA22, GAPDHS and ACR genes in testicular biopsies from non-obstructive azoospermia (NOA) patients.
the expression of GAPDS in melanoma cells may facilitate glycolysis and prevent the induction of apoptosis.
Title: Sperm-specific glyceraldehyde-3-phosphate dehydrogenase is expressed in melanoma cells.
The chaperonin TRiC was shown to assist an ATP-dependent refolding of recombinant forms of GAPDS.
Title: Chaperonin TRiC assists the refolding of sperm-specific glyceraldehyde-3-phosphate dehydrogenase.
Structure and kinetic characterization of human sperm-specific glyceraldehyde-3-phosphate dehydrogenase, GAPDS.
Title: Structure and kinetic characterization of human sperm-specific glyceraldehyde-3-phosphate dehydrogenase, GAPDS.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAD binding	IEA Inferred from Electronic Annotation more info
enables NADP binding	IEA Inferred from Electronic Annotation more info
enables glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity	IBA Inferred from Biological aspect of Ancestor more info
enables glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in flagellated sperm motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in glucose metabolic process	IEA Inferred from Electronic Annotation more info
involved_in glycolytic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycolytic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of glycolytic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: glyceraldehyde-3-phosphate dehydrogenase, testis-specific

Names: epididymis secretory protein Li 278; spermatogenic cell-specific glyceraldehyde 3-phosphate dehydrogenase 2; spermatogenic glyceraldehyde-3-phosphate dehydrogenase

NP_055179.1

EC 1.2.1.12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_046898.1 RefSeqGene

Range

5045..16908

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014364.5 → NP_055179.1 glyceraldehyde-3-phosphate dehydrogenase, testis-specific

See identical proteins and their annotated locations for NP_055179.1

Status: REVIEWED

Source sequence(s)

AC002389, BC036373, BP370184

Consensus CDS

CCDS12465.1

UniProtKB/Swiss-Prot

B2RC82, O14556, O60823, Q6JTT9, Q9HCU6

UniProtKB/TrEMBL

A0A0K0K1K1

Related

ENSP00000222286.3, ENST00000222286.9

Conserved Domains (3) summary

COG0057
Location:78 → 408

GapA; Glyceraldehyde-3-phosphate dehydrogenase/erythrose-4-phosphate dehydrogenase [Carbohydrate transport and metabolism]

pfam00044
Location:78 → 224

Gp_dh_N; Glyceraldehyde 3-phosphate dehydrogenase, NAD binding domain

pfam02800
Location:229 → 386

Gp_dh_C; Glyceraldehyde 3-phosphate dehydrogenase, C-terminal domain