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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 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30985207..30989147)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31372649..31376589)
105.20220307 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
  • 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. 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
  3. 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
  4. Expression of steroid sulfated transporters and 3β-HSD activity in endometrium of women having polycystic ovary syndrome. Plaza-Parrochia F, et al. Steroids, 2015 Dec. PMID 26450365
  5. 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

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

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 activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables 3-beta-hydroxy-delta5-steroid dehydrogenase 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_2023_10

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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