H6PD

Protein identityUniProt · HPA

UniProt accession

O95479

Gene

H6PD

Ensembl

ENSG00000049239

Chromosome

1

Canonical length

791 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Cytosol

Secretome location

Intracellular and membrane

Quaternary structure

Homodimer

OverviewNCBI Gene

There are 2 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. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

791 residues, UniProt reviewed canonical sequence.

>O95479|H6PD
     1  MWNMLIVAMC LALLGCLQAQ ELQGHVSIIL LGATGDLAKK YLWQGLFQLY LDEAGRGHSF
    61  SFHGAALTAP KQGQELMAKA LESLSCPKDM APSHCAEHKD QFLQLSQYRQ LKTAEDYQAL
   121  NKDIEAQLQH AGLREAGRIF YFSVPPFAYE DIARNINSSC RPGPGAWLRV VLEKPFGHDH
   181  FSAQQLATEL GTFFQEEEMY RVDHYLGKQA VAQILPFRDQ NRKALDGLWN RHHVERVEII
   241  MKETVDAEGR TSFYEEYGVI RDVLQNHLTE VLTLVAMELP HNVSSAEAVL RHKLQVFQAL
   301  RGLQRGSAVV GQYQSYSEQV RRELQKPDSF HSLTPTFAAV LVHIDNLRWE GVPFILMSGK
   361  ALDERVGYAR ILFKNQACCV QSEKHWAAAQ SQCLPRQLVF HIGHGDLGSP AVLVSRNLFR
   421  PSLPSSWKEM EGPPGLRLFG SPLSDYYAYS PVRERDAHSV LLSHIFHGRK NFFITTENLL
   481  ASWNFWTPLL ESLAHKAPRL YPGGAENGRL LDFEFSSGRL FFSQQQPEQL VPGPGPAPMP
   541  SDFQVLRAKY RESPLVSAWS EELISKLAND IEATAVRAVR RFGQFHLALS GGSSPVALFQ
   601  QLATAHYGFP WAHTHLWLVD ERCVPLSDPE SNFQGLQAHL LQHVRIPYYN IHPMPVHLQQ
   661  RLCAEEDQGA QIYAREISAL VANSSFDLVL LGMGADGHTA SLFPQSPTGL DGEQLVVLTT
   721  SPSQPHRRMS LSLPLINRAK KVAVLVMGRM KREITTLVSR VGHEPKKWPI SGVLPHSGQL
   781  VWYMDYDAFL G

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against H6PD can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.24

Highest tissue expression

89 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about H6PD.

Disease | AllUniProt

Conditions H6PD is implicated in, by any mechanism.

• Cortisone reductase deficiency 1 (CORTRD1) MIM:604931

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 325 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Cortisone reductase deficiency 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.94

gnomAD pLI

0

gnomAD missense Z

-1.13

DepMap mean gene effect

0.07

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• glucose metabolic process
• pentose-phosphate shunt, oxidative branch
• regulation of cortisol biosynthetic process
• response to alcohol
• response to nutrient levels

Molecular functions

• 6-phosphogluconolactonase activity
• carbohydrate binding
• glucose-6-phosphate dehydrogenase activity
• NADP binding
• glucose 1-dehydrogenase (NAD+) activity
• glucose 1-dehydrogenase (NADP+) activity

Cellular components

• endoplasmic reticulum
• endoplasmic reticulum lumen
• sarcoplasmic reticulum

Protein domainsUniProt · Pfam · InterPro

• Glucose-6-phosphate dehydrogenase
• 6-phosphogluconolactonase, DevB-type
• Glucosamine/galactosamine-6-phosphate isomerase
• Glucose-6-phosphate dehydrogenase, active site
• Glucose-6-phosphate dehydrogenase, NAD-binding
• Glucose-6-phosphate dehydrogenase, C-terminal
• NAD(P)-binding domain superfamily
• NagB/RpiA transferase-like
• Glucose-6-phosphate dehydrogenase, NAD binding domain
• Glucosamine-6-phosphate isomerases/6-phosphogluconolactonase
• Glucose-6-phosphate dehydrogenase, C-terminal domain

KeywordsUniProt

• Carbohydrate metabolism
• Endoplasmic reticulum
• Glucose metabolism
• Glycoprotein
• Hydrolase
• Multifunctional enzyme
• NAD
• NADP
• Oxidoreductase
• Pyrrolidone carboxylic acid
• Signal

InteractionsUniProt · HPA

Protein binding partners of H6PD in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• FBXO6