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H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase [ Homo sapiens (human) ]

Gene ID: 9563, updated on 7-Jan-2024

Summary

Official Symbol
H6PDprovided by HGNC
Official Full Name
hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenaseprovided by HGNC
Primary source
HGNC:HGNC:4795
See related
Ensembl:ENSG00000049239 MIM:138090; AllianceGenome:HGNC:4795
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
GDH; G6PDH; H6PDH; CORTRD1
Summary
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]
Expression
Ubiquitous expression in ovary (RPKM 12.8), skin (RPKM 11.6) and 25 other tissues See more
Orthologs
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Genomic context

See H6PD in Genome Data Viewer
Location:
1p36.22
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (9234774..9271337)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (8769418..8805954)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (9294833..9331396)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr1:9211645-9211881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 120 Neighboring gene MIR34A host gene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9229591-9230092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9230093-9230592 Neighboring gene microRNA 34a Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9240951-9241812 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9241813-9242673 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9243535-9244395 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 214 Neighboring gene long non coding transcriptional activator of miR34a Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9258086-9258606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9275966-9276493 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 216 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9300874-9301539 Neighboring gene uncharacterized LOC124903836 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9308569-9309492 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9309493-9310416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9311341-9312263 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:9312526-9313085 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_9566 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 217 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9364927-9365774 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:9376867-9377040 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:9377645-9378844 Neighboring gene splA/ryanodine receptor domain and SOCS box containing 1 Neighboring gene Sharpr-MPRA regulatory region 3390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9410201-9410702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9410703-9411202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9412777-9413692 Neighboring gene VISTA enhancer hs1615 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9445249-9445882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9445883-9446516 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_9573 and experimental_9584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9459188-9460031 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9460032-9460874 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9460875-9461717 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9472665-9473598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9473599-9474530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9477117-9477617 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 125 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9487788-9488422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 127 Neighboring gene long intergenic non-protein coding RNA 2606

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cortisone reductase deficiency 1
MedGen: C3551716 OMIM: 604931 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat 47-59 peptide upregulates gene expression of hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase; H6PD) in U-937 macrophages PubMed
Vif vif HIV-1 Vif downregulates the expression of hexose-6-phosphate dehydrogenase (H6PD, glucose 1-dehydrogenase) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC87643, DKFZp686A01246

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 6-phosphogluconolactonase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables NADP binding IEA
Inferred from Electronic Annotation
more info
 
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
enables glucose 1-dehydrogenase (NAD+) activity IEA
Inferred from Electronic Annotation
more info
 
enables glucose 1-dehydrogenase (NADP+) activity IEA
Inferred from Electronic Annotation
more info
 
enables glucose 1-dehydrogenase [NAD(P)] activity IEA
Inferred from Electronic Annotation
more info
 
enables glucose-6-phosphate dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables glucose-6-phosphate dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in glucose metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in pentose-phosphate shunt, oxidative branch IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in pentose-phosphate shunt, oxidative branch IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cortisol biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to alcohol IEA
Inferred from Electronic Annotation
more info
 
involved_in response to nutrient levels IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
GDH/6PGL endoplasmic bifunctional protein
Names
6-phosphogluconolactonase
G6PD, H form
glucose 1- dehydrogenase
glucose dehydrogenase
glucose dehyrogenase
glucose-6-phosphate dehydrogenase, salivary
NP_001269516.1
NP_004276.2
XP_005263597.1
XP_006711115.1
XP_016858354.1
XP_016858355.1
XP_047290958.1
XP_047290959.1
XP_047290961.1
XP_054195686.1
XP_054195687.1
XP_054195688.1
XP_054195689.1
XP_054195690.1

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

  1. NG_012218.1 RefSeqGene

    Range
    4971..41534
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282587.2NP_001269516.1  GDH/6PGL endoplasmic bifunctional protein isoform 1 precursor

    See identical proteins and their annotated locations for NP_001269516.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BM974986, Z98044
    Consensus CDS
    CCDS72697.1
    UniProtKB/TrEMBL
    R4GMU1
    Related
    ENSP00000473348.1, ENST00000602477.1
    Conserved Domains (4) summary
    COG0364
    Location:33515
    Zwf; Glucose-6-phosphate 1-dehydrogenase [Carbohydrate transport and metabolism]
    TIGR01198
    Location:567802
    pgl; 6-phosphogluconolactonase
    pfam00479
    Location:40222
    G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain
    pfam02781
    Location:236515
    G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain
  2. NM_004285.4NP_004276.2  GDH/6PGL endoplasmic bifunctional protein isoform 2 precursor

    See identical proteins and their annotated locations for NP_004276.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' most exon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AJ012590, BC081559, Z98044
    Consensus CDS
    CCDS101.1
    UniProtKB/Swiss-Prot
    O95479, Q4TT33, Q66I35, Q68DT3, R4GMU1
    Related
    ENSP00000366620.2, ENST00000377403.7
    Conserved Domains (4) summary
    COG0364
    Location:22504
    Zwf; Glucose-6-phosphate 1-dehydrogenase [Carbohydrate transport and metabolism]
    TIGR01198
    Location:556791
    pgl; 6-phosphogluconolactonase
    pfam00479
    Location:29211
    G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain
    pfam02781
    Location:225504
    G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    9234774..9271337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435002.1XP_047290958.1  GDH/6PGL endoplasmic bifunctional protein isoform X1

  2. XM_006711052.5XP_006711115.1  GDH/6PGL endoplasmic bifunctional protein isoform X4

    See identical proteins and their annotated locations for XP_006711115.1

    UniProtKB/Swiss-Prot
    O95479, Q4TT33, Q66I35, Q68DT3, R4GMU1
    Conserved Domains (4) summary
    COG0364
    Location:22504
    Zwf; Glucose-6-phosphate 1-dehydrogenase [Carbohydrate transport and metabolism]
    TIGR01198
    Location:556791
    pgl; 6-phosphogluconolactonase
    pfam00479
    Location:29211
    G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain
    pfam02781
    Location:225504
    G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain
  3. XM_017002865.3XP_016858354.1  GDH/6PGL endoplasmic bifunctional protein isoform X4

    UniProtKB/Swiss-Prot
    O95479, Q4TT33, Q66I35, Q68DT3, R4GMU1
    Conserved Domains (4) summary
    COG0364
    Location:22504
    Zwf; Glucose-6-phosphate 1-dehydrogenase [Carbohydrate transport and metabolism]
    TIGR01198
    Location:556791
    pgl; 6-phosphogluconolactonase
    pfam00479
    Location:29211
    G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain
    pfam02781
    Location:225504
    G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain
  4. XM_047435005.1XP_047290961.1  GDH/6PGL endoplasmic bifunctional protein isoform X4

    UniProtKB/Swiss-Prot
    O95479, Q4TT33, Q66I35, Q68DT3, R4GMU1
  5. XM_005263540.6XP_005263597.1  GDH/6PGL endoplasmic bifunctional protein isoform X2

    Conserved Domains (4) summary
    COG0364
    Location:31513
    Zwf; Glucose-6-phosphate 1-dehydrogenase [Carbohydrate transport and metabolism]
    TIGR01198
    Location:565800
    pgl; 6-phosphogluconolactonase
    pfam00479
    Location:38220
    G6PD_N; Glucose-6-phosphate dehydrogenase, NAD binding domain
    pfam02781
    Location:234513
    G6PD_C; Glucose-6-phosphate dehydrogenase, C-terminal domain
  6. XM_047435003.1XP_047290959.1  GDH/6PGL endoplasmic bifunctional protein isoform X3

  7. XM_017002866.3XP_016858355.1  GDH/6PGL endoplasmic bifunctional protein isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    8769418..8805954
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339711.1XP_054195686.1  GDH/6PGL endoplasmic bifunctional protein isoform X1

  2. XM_054339713.1XP_054195688.1  GDH/6PGL endoplasmic bifunctional protein isoform X4

  3. XM_054339714.1XP_054195689.1  GDH/6PGL endoplasmic bifunctional protein isoform X4

  4. XM_054339712.1XP_054195687.1  GDH/6PGL endoplasmic bifunctional protein isoform X2

  5. XM_054339715.1XP_054195690.1  GDH/6PGL endoplasmic bifunctional protein isoform X5