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    HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [ Homo sapiens (human) ]

    Gene ID: 80270, updated on 2-Nov-2024

    Summary

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    Official Symbol
    HSD3B7provided by HGNC
    Official Full Name
    hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7provided by HGNC
    Primary source
    HGNC:HGNC:18324
    See related
    Ensembl:ENSG00000099377 MIM:607764; AllianceGenome:HGNC:18324
    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
    CBAS1; PFIC4; SDR11E3
    Summary
    This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
    Expression
    Ubiquitous expression in liver (RPKM 10.0), kidney (RPKM 6.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HSD3B7 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30985207..30989147)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31372649..31376589)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30996528..31000468)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7403 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30960708-30961226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30961745-30962262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30964322-30964887 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30968383-30969146 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7405 Neighboring gene ORAI calcium release-activated calcium modulator 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7406 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30974870-30975017 Neighboring gene SET domain containing 1A, histone lysine methyltransferase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30995997-30996509 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30999355-30999854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31001361-31002004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31002005-31002648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7407 Neighboring gene syntaxin 1B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31011808-31012308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31012309-31012809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31021995-31022496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31044203-31044714 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31045227-31045737 Neighboring gene syntaxin 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ(5)-C(27)-steroid oxidoreductase (HSD3B7) deficiency in China. Zhao J, et al. Orphanet J Rare Dis, 2021 Oct 9. PMID 34627351, Free PMC Article
    2. Molecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency. Mizuochi T, et al. Pediatr Res, 2010 Sep. PMID 20531254
    3. Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology. Molho-Pessach V, et al. Hepatology, 2012 Apr. PMID 22095780, Free PMC Article
    4. The association between HSD3B7 gene variant and Parkinson's disease in ethnic Chinese. Lu ZJ, et al. Brain Behav, 2018 Apr. PMID 29670816, Free PMC Article
    5. Novel Mutations in the 3β-hydroxy-∆5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis. Huang HY, et al. Chin Med J (Engl), 2016 Jan 5. PMID 26712441, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic spectrum and clinical characteristics of 3beta-hydroxy-Delta(5)-C27-steroid oxidoreductase (HSD3B7) deficiency in China.
      Title: Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ(5)-C(27)-steroid oxidoreductase (HSD3B7) deficiency in China.
    2. In the classical pathway, HSD3B7 catalyzes the second step of bile acid formation and its mutations may reduce the synthetic capability.
      Title: The association between HSD3B7 gene variant and Parkinson's disease in ethnic Chinese.
    3. Novel Mutations in the 3beta-hydroxy-5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis.
      Title: Novel Mutations in the 3β-hydroxy-∆5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis.
    4. Expression of steroid sulfated transporters and 3beta-HSD activity in endometrium of polycystic ovary syndrome
      Title: Expression of steroid sulfated transporters and 3β-HSD activity in endometrium of women having polycystic ovary syndrome.
    5. Homozygosity mapping identifies a bile acid biosynthetic defect (3beta-HSD deficiency due to a frameshift mutation in HSD3B7) in an adult with cirrhosis of unknown etiology.
      Title: Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: An integrative method for scoring candidate genes from association studies: application to warfarin dosing.
    7. Mutations in the HSD3B7 gene account for autosomal recessive neonatal cholestasis caused by 3[beta]-hydroxy-[DELTA]5-C27-steroid dehydrogenase/isomerase deficiency.
      Title: Molecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Congenital bile acid synthesis defect 1
    MedGen: C1843116 OMIM: 607765 GeneReviews: Pediatric Genetic Cholestatic Liver Disease Overview
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-beta-hydroxy-delta5-steroid dehydrogenase (NAD+) activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables 3-beta-hydroxy-delta5-steroid dehydrogenase (NAD+) activity TAS
    Traceable Author Statement
    more info
    		  
    enables cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in B cell chemotaxis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in bile acid biosynthetic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    3 beta-hydroxysteroid dehydrogenase type 7
    Names
    3 beta-hydroxy-delta 5-C27-steroid oxidoreductase
    3 beta-hydroxysteroid dehydrogenase type VII
    3-beta-HSD VII
    3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase
    C(27)-3BETA-HSD
    c(27) 3-beta-HSD
    cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase
    short chain dehydrogenase/reductase family 11E, member 3
    NP_001136249.1
    NP_001136250.1
    NP_079469.2
    XP_005255658.2
    XP_011544262.1
    XP_011544263.1
    XP_011544264.1
    XP_016879221.1
    XP_047290672.1
    XP_054170021.1
    XP_054170022.1
    XP_054170023.1
    XP_054170024.1
    XP_054170025.1
    XP_054170026.1

    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_012346.1 RefSeqGene

      Range
      5010..8950
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142777.2 → NP_001136249.1  3 beta-hydroxysteroid dehydrogenase type 7 isoform b

      See identical proteins and their annotated locations for NP_001136249.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5'UTR and lacks an exon in the 3' coding region which results in a frameshift and an early stop codon, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a. Variants 2 and 3 encode the same protein.
      Source sequence(s)
      AC135048, AK057436, AK292068, CA413388
      Consensus CDS
      CCDS45466.1
      UniProtKB/TrEMBL
      I3L2H6
      Related
      ENSP00000262520.6, ENST00000262520.10
      Conserved Domains (1) summary
      cl21454
      Location:11 → 177
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. NM_001142778.2 → NP_001136250.1  3 beta-hydroxysteroid dehydrogenase type 7 isoform b

      See identical proteins and their annotated locations for NP_001136250.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 3' coding region which results in a frameshift and an early stop codon, compared to variant (1), resulting in a shorter protein (isoform b), compared to isoform a. Variants 2 and 3 encode the same protein.
      Source sequence(s)
      AC135048, AK290950, BM744211, CA413388, DB336146
      Consensus CDS
      CCDS45466.1
      UniProtKB/TrEMBL
      I3L2H6
      Conserved Domains (1) summary
      cl21454
      Location:11 → 177
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    3. NM_025193.4 → NP_079469.2  3 beta-hydroxysteroid dehydrogenase type 7 isoform a

      See identical proteins and their annotated locations for NP_079469.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC135048, BC004929
      Consensus CDS
      CCDS10698.1
      UniProtKB/Swiss-Prot
      Q96M28, Q9BSN9, Q9H2F3
      Related
      ENSP00000297679.5, ENST00000297679.10
      Conserved Domains (2) summary
      cd09811
      Location:11 → 361
      3b-HSD_HSDB1_like_SDR_e; human 3beta-HSD (hydroxysteroid dehydrogenase) and HSD3B1(delta 5-delta 4-isomerase)-like, extended (e) SDRs
      pfam01073
      Location:13 → 291
      3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      30985207..30989147
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545961.2 → XP_011544263.1  3 beta-hydroxysteroid dehydrogenase type 7 isoform X1

      See identical proteins and their annotated locations for XP_011544263.1

      UniProtKB/Swiss-Prot
      Q96M28, Q9BSN9, Q9H2F3
      Conserved Domains (2) summary
      cd09811
      Location:11 → 361
      3b-HSD_HSDB1_like_SDR_e; human 3beta-HSD (hydroxysteroid dehydrogenase) and HSD3B1(delta 5-delta 4-isomerase)-like, extended (e) SDRs
      pfam01073
      Location:13 → 291
      3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family

    2. XM_011545960.3 → XP_011544262.1  3 beta-hydroxysteroid dehydrogenase type 7 isoform X1

      See identical proteins and their annotated locations for XP_011544262.1

      UniProtKB/Swiss-Prot
      Q96M28, Q9BSN9, Q9H2F3
      Conserved Domains (2) summary
      cd09811
      Location:11 → 361
      3b-HSD_HSDB1_like_SDR_e; human 3beta-HSD (hydroxysteroid dehydrogenase) and HSD3B1(delta 5-delta 4-isomerase)-like, extended (e) SDRs
      pfam01073
      Location:13 → 291
      3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family

    3. XM_017023732.2 → XP_016879221.1  3 beta-hydroxysteroid dehydrogenase type 7 isoform X2

      UniProtKB/TrEMBL
      I3L2H6
      Related
      ENSP00000459689.1, ENST00000574447.1
      Conserved Domains (1) summary
      cl21454
      Location:11 → 177
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    4. XM_047434716.1 → XP_047290672.1  3 beta-hydroxysteroid dehydrogenase type 7 isoform X1

      UniProtKB/Swiss-Prot
      Q96M28, Q9BSN9, Q9H2F3

    5. XM_005255601.4 → XP_005255658.2  3 beta-hydroxysteroid dehydrogenase type 7 isoform X1

      See identical proteins and their annotated locations for XP_005255658.2

      UniProtKB/Swiss-Prot
      Q96M28, Q9BSN9, Q9H2F3
      Conserved Domains (2) summary
      cd09811
      Location:11 → 361
      3b-HSD_HSDB1_like_SDR_e; human 3beta-HSD (hydroxysteroid dehydrogenase) and HSD3B1(delta 5-delta 4-isomerase)-like, extended (e) SDRs
      pfam01073
      Location:13 → 291
      3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family

    6. XM_011545962.3 → XP_011544264.1  3 beta-hydroxysteroid dehydrogenase type 7 isoform X2

      See identical proteins and their annotated locations for XP_011544264.1

      UniProtKB/TrEMBL
      I3L2H6
      Conserved Domains (1) summary
      cl21454
      Location:11 → 177
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      31372649..31376589
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314048.1 → XP_054170023.1  3 beta-hydroxysteroid dehydrogenase type 7 isoform X1

    2. XM_054314047.1 → XP_054170022.1  3 beta-hydroxysteroid dehydrogenase type 7 isoform X1

    3. XM_054314051.1 → XP_054170026.1  3 beta-hydroxysteroid dehydrogenase type 7 isoform X2

    4. XM_054314049.1 → XP_054170024.1  3 beta-hydroxysteroid dehydrogenase type 7 isoform X1

    5. XM_054314046.1 → XP_054170021.1  3 beta-hydroxysteroid dehydrogenase type 7 isoform X1

    6. XM_054314050.1 → XP_054170025.1  3 beta-hydroxysteroid dehydrogenase type 7 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H2F3.2 GenPept UniProtKB/Swiss-Prot:Q9H2F3

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