H6PD

Last updated
H6PD
Identifiers
Aliases H6PD , CORTRD1, G6PDH, GDH, hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase, H6PDH
External IDs OMIM: 138090 MGI: 2140356 HomoloGene: 48275 GeneCards: H6PD
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001282587
NM_004285

NM_001291004
NM_173371

RefSeq (protein)

NP_001269516
NP_004276

NP_001277933
NP_775547

Location (UCSC) Chr 1: 9.23 – 9.27 Mb Chr 4: 150.06 – 150.09 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

GDH/6PGL endoplasmic bifunctional protein is a protein that in humans is encoded by the H6PD gene. [5] [6]

Contents

Function

There are two forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [6]

Related Research Articles

<span class="mw-page-title-main">Glucose-6-phosphate isomerase</span> Mammalian protein found in Homo sapiens

Glucose-6-phosphate isomerase (GPI), alternatively known as phosphoglucose isomerase/phosphoglucoisomerase (PGI) or phosphohexose isomerase (PHI), is an enzyme that in humans is encoded by the GPI gene on chromosome 19. This gene encodes a member of the glucose phosphate isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In the cytoplasm, the gene product functions as a glycolytic enzyme that interconverts glucose-6-phosphate (G6P) and fructose-6-phosphate (F6P). Extracellularly, the encoded protein functions as a neurotrophic factor that promotes survival of skeletal motor neurons and sensory neurons, and as a lymphokine that induces immunoglobulin secretion. The encoded protein is also referred to as autocrine motility factor (AMF) based on an additional function as a tumor-secreted cytokine and angiogenic factor. Defects in this gene are the cause of nonspherocytic hemolytic anemia, and a severe enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

<span class="mw-page-title-main">Glucose-6-phosphate dehydrogenase</span> Enzyme involved in the production of energy by cells

Glucose-6-phosphate dehydrogenase (G6PD or G6PDH) (EC 1.1.1.49) is a cytosolic enzyme that catalyzes the chemical reaction

<span class="mw-page-title-main">Glyceraldehyde 3-phosphate dehydrogenase</span> Enzyme of the glycolysis metabolic pathway

Glyceraldehyde 3-phosphate dehydrogenase is an enzyme of about 37kDa that catalyzes the sixth step of glycolysis and thus serves to break down glucose for energy and carbon molecules. In addition to this long established metabolic function, GAPDH has recently been implicated in several non-metabolic processes, including transcription activation, initiation of apoptosis, ER to Golgi vesicle shuttling, and fast axonal, or axoplasmic transport. In sperm, a testis-specific isoenzyme GAPDHS is expressed.

<span class="mw-page-title-main">Inosine monophosphate synthase</span>

Bifunctional purine biosynthesis protein PURH is a protein that in humans is encoded by the ATIC gene.

<span class="mw-page-title-main">GFPT1</span>

Glucosamine—fructose-6-phosphate aminotransferase isomerizing 1 is an enzyme that in humans is encoded by the GFPT1 gene.

<span class="mw-page-title-main">DLST</span> Protein-coding gene in the species Homo sapiens

Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial is an enzyme that in humans is encoded by the DLST gene.

<span class="mw-page-title-main">PHKG2</span>

Phosphorylase b kinase gamma catalytic chain, testis/liver isoform is an enzyme that in humans is encoded by the PHKG2 gene.

<span class="mw-page-title-main">NAGPA</span>

N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase is an enzyme that in humans is encoded by the NAGPA gene.

<span class="mw-page-title-main">HSD17B8</span>

Estradiol 17 beta-dehydrogenase 8 is an enzyme that in humans is encoded by the HSD17B8 gene.

<span class="mw-page-title-main">ALDH1A2</span>

Aldehyde dehydrogenase 1 family, member A2, also known as ALDH1A2 or retinaldehyde dehydrogenase 2 (RALDH2), is an enzyme that in humans is encoded by the ALDH1A2 gene.

<span class="mw-page-title-main">MTHFD2</span>

Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial is an enzyme that in humans is encoded by the MTHFD2 gene.

<span class="mw-page-title-main">BDH1</span>

D-beta-hydroxybutyrate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the BDH1 gene.

<span class="mw-page-title-main">PFKFB1</span> Protein-coding gene in the species Homo sapiens

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 is an enzyme that in humans is encoded by the PFKFB1 gene.

<span class="mw-page-title-main">NANS</span> Protein-coding gene in the species Homo sapiens

Sialic acid synthase is an enzyme that in humans is encoded by the NANS gene.

<span class="mw-page-title-main">FOXK1</span> Protein-coding gene in the species Homo sapiens

Forkhead box protein K1 is a transcription factor of the forkhead box family that in humans is encoded by the FOXK1 gene.

<span class="mw-page-title-main">UBL4A</span> Protein-coding gene in the species Homo sapiens

Ubiquitin-like protein 4A is a protein that in humans is encoded by the UBL4A gene.

<span class="mw-page-title-main">ALDH1A3</span>

Aldehyde dehydrogenase 1 family, member A3, also known as ALDH1A3 or retinaldehyde dehydrogenase 3 (RALDH3), is an enzyme that in humans is encoded by the ALDH1A3 gene,

<span class="mw-page-title-main">Pyruvate dehydrogenase (lipoamide) alpha 2</span>

Pyruvate dehydrogenase (lipoamide) alpha 2, also known as pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial or PDHE1-A type II, is an enzyme that in humans is encoded by the PDHA2 gene.

<span class="mw-page-title-main">G6PC3</span> Protein-coding gene in the species Homo sapiens

Glucose-6-phosphatase 3, also known as glucose-6-phosphatase beta, is an enzyme that in humans is encoded by the G6PC3 gene.

<span class="mw-page-title-main">SRD5A3</span>

Steroid 5-alpha-reductase 3, also known as 3-oxo-5-alpha-steroid 4-dehydrogenase 3, is an enzyme that in humans is encoded by the SRD5A3 gene. It is one of three forms of 5α-reductase.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000049239 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028980 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Mason PJ, Stevens D, Diez A, Knight SW, Scopes DA, Vulliamy TJ (Jul 1999). "Human hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) encoded at 1p36: coding sequence and expression". Blood Cells Mol Dis. 25 (1): 30–7. doi:10.1006/bcmd.1999.0224. PMID   10349511.
  6. 1 2 "Entrez Gene: H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)".

Further reading