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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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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)

    NEW Try the new Transcript table

    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