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Aliases for HSD3B7 Gene

Aliases for HSD3B7 Gene

  • Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 7 2 3 5
  • Cholest-5-Ene-3-Beta,7-Alpha-Diol 3-Beta-Dehydrogenase 3 4
  • 3-Beta-Hydroxy-Delta(5)-C27 Steroid Oxidoreductase 3 4
  • 3 Beta-Hydroxysteroid Dehydrogenase Type VII 3 4
  • C(27) 3-Beta-HSD 3 4
  • 3-Beta-HSD VII 3 4
  • Short Chain Dehydrogenase/Reductase Family 11E, Member 3 3
  • 3 Beta-Hydroxy-Delta 5-C27-Steroid Oxidoreductase 3
  • Short Chain Dehydrogenase/Reductase Family 11E 2
  • C(27)-3BETA-HSD 3
  • EC 1.1.1.181 4
  • EC 1.1.1.- 4
  • Member 3 2
  • SDR11E3 3
  • CBAS1 3
  • PFIC4 3

External Ids for HSD3B7 Gene

Previous GeneCards Identifiers for HSD3B7 Gene

  • GC16P031493
  • GC16P030993
  • GC16P031032
  • GC16P030905
  • GC16P030907
  • GC16P028558

Summaries for HSD3B7 Gene

Entrez Gene Summary for HSD3B7 Gene

  • 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]

GeneCards Summary for HSD3B7 Gene

HSD3B7 (Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 7) is a Protein Coding gene. Diseases associated with HSD3B7 include bile acid synthesis defect, congenital, 1 and cholestasis, progressive familial intrahepatic 4. Among its related pathways are Metabolism and Synthesis of bile acids and bile salts. GO annotations related to this gene include oxidoreductase activity and coenzyme binding. An important paralog of this gene is NSDHL.

UniProtKB/Swiss-Prot for HSD3B7 Gene

  • The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSD3B7 Gene

Genomics for HSD3B7 Gene

Regulatory Elements for HSD3B7 Gene

Promoters for HSD3B7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HSD3B7 on UCSC Golden Path with GeneCards custom track

Genomic Location for HSD3B7 Gene

Chromosome:
16
Start:
30,985,110 bp from pter
End:
30,989,152 bp from pter
Size:
4,043 bases
Orientation:
Plus strand

Genomic View for HSD3B7 Gene

Genes around HSD3B7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD3B7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD3B7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD3B7 Gene

Proteins for HSD3B7 Gene

  • Protein details for HSD3B7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2F3-3BHS7_HUMAN
    Recommended name:
    3 beta-hydroxysteroid dehydrogenase type 7
    Protein Accession:
    Q9H2F3
    Secondary Accessions:
    • Q96M28
    • Q9BSN9

    Protein attributes for HSD3B7 Gene

    Size:
    369 amino acids
    Molecular mass:
    41016 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HSD3B7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSD3B7 Gene

Proteomics data for HSD3B7 Gene at MOPED

Post-translational modifications for HSD3B7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSD3B7 Gene

Antibody Products

No data available for DME Specific Peptides for HSD3B7 Gene

Domains & Families for HSD3B7 Gene

Gene Families for HSD3B7 Gene

Protein Domains for HSD3B7 Gene

Suggested Antigen Peptide Sequences for HSD3B7 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H2F3

UniProtKB/Swiss-Prot:

3BHS7_HUMAN :
  • Belongs to the 3-beta-HSD family.
Family:
  • Belongs to the 3-beta-HSD family.
genes like me logo Genes that share domains with HSD3B7: view

Function for HSD3B7 Gene

Molecular function for HSD3B7 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
3-beta-hydroxy-Delta(5)-steroid + NAD(+) = 3-oxo-Delta(5)-steroid + NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
Cholest-5-ene-3-beta,7-alpha-diol + NAD(+) = 7-alpha-hydroxycholest-4-en-3-one + NADH.
UniProtKB/Swiss-Prot Function:
The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis.

Enzyme Numbers (IUBMB) for HSD3B7 Gene

Gene Ontology (GO) - Molecular Function for HSD3B7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with HSD3B7: view
genes like me logo Genes that share phenotypes with HSD3B7: view

Human Phenotype Ontology for HSD3B7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HSD3B7 Gene

MGI Knock Outs for HSD3B7:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for HSD3B7 Gene

Localization for HSD3B7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD3B7 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HSD3B7 Gene COMPARTMENTS Subcellular localization image for HSD3B7 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 1
extracellular 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for HSD3B7 Gene

Pathways & Interactions for HSD3B7 Gene

genes like me logo Genes that share pathways with HSD3B7: view

UniProtKB/Swiss-Prot Q9H2F3-3BHS7_HUMAN

  • Pathway: Lipid metabolism; steroid biosynthesis.

Gene Ontology (GO) - Biological Process for HSD3B7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006694 steroid biosynthetic process IEA --
GO:0008206 bile acid metabolic process TAS --
genes like me logo Genes that share ontologies with HSD3B7: view

No data available for SIGNOR curated interactions for HSD3B7 Gene

Drugs & Compounds for HSD3B7 Gene

(2) Drugs for HSD3B7 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NAD Pharma Full agonist, Agonist 0
NADH Nutra 0

(13) Additional Compounds for HSD3B7 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(24S)-7alpha,24-Dihydroxycholesterol
3 beta,7 alpha-Dihydroxy-5-cholestenoate
  • (3beta,7alpha)-3,7-dihydroxy-Cholest-5-en-26-oate
  • (3beta,7alpha)-3,7-dihydroxy-Cholest-5-en-26-oic acid
  • 3 beta,7 alpha-Dihydroxy-5-cholesten-26-oate
  • 3 beta,7 alpha-Dihydroxy-5-cholesten-26-oic acid
  • 3,7-Dihydroxy-5-cholestenoate
115538-84-6
7 alpha,24-Dihydroxy-4-cholesten-3-one
7 alpha,26-Dihydroxy-4-cholesten-3-one
  • (7alpha)-7,26-dihydroxy-Cholest-4-en-3-one
  • 4-Cholesten-7alpha,26-diol-3-one
  • 7,26-Dhxyclso
  • 7alpha,26-Dihydroxy-4-cholesten-3-one
  • 7alpha,26-dihydroxycholest-4-en-3-one
4675-38-1
7 alpha-Hydroxy-3-oxo-4-cholestenoate
  • (7alpha)7-hydroxy-3-oxo--Cholest-4-en-26-oate
  • (7alpha)7-hydroxy-3-oxo--Cholest-4-en-26-oic acid
  • 7-Hoca
  • 7alpha-hydroxy-3-oxo-4-cholestenoate
  • 7alpha-hydroxy-3-oxo-4-cholestenoic acid
115538-85-7
genes like me logo Genes that share compounds with HSD3B7: view

Transcripts for HSD3B7 Gene

Unigene Clusters for HSD3B7 Gene

Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HSD3B7 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1: - - - -
SP2: - -
SP3: - - - -
SP4: - -
SP5: - - -
SP6: - - -

Relevant External Links for HSD3B7 Gene

GeneLoc Exon Structure for
HSD3B7
ECgene alternative splicing isoforms for
HSD3B7

Expression for HSD3B7 Gene

mRNA expression in normal human tissues for HSD3B7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HSD3B7 Gene

This gene is overexpressed in Liver (x10.6).

Protein differential expression in normal tissues from HIPED for HSD3B7 Gene

This gene is overexpressed in Testis (18.7), Liver (15.6), Islet of Langerhans (14.9), Adrenal (10.3), and Gallbladder (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HSD3B7 Gene



SOURCE GeneReport for Unigene cluster for HSD3B7 Gene Hs.460618

genes like me logo Genes that share expression patterns with HSD3B7: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for HSD3B7 Gene

Orthologs for HSD3B7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HSD3B7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HSD3B7 35
  • 87.14 (n)
  • 90.22 (a)
HSD3B7 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSD3B7 35
  • 87.9 (n)
  • 89.7 (a)
HSD3B7 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hsd3b7 35
  • 83.83 (n)
  • 86.99 (a)
Hsd3b7 16
Hsd3b7 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HSD3B7 35
  • 99.28 (n)
  • 98.92 (a)
HSD3B7 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hsd3b7 35
  • 83.98 (n)
  • 87.24 (a)
oppossum
(Monodelphis domestica)
Mammalia HSD3B7 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HSD3B7 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSD3B7 36
  • 39 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HSD3B7 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd3b7 35
  • 63.55 (n)
  • 62.61 (a)
zebrafish
(Danio rerio)
Actinopterygii hsd3b7 35
  • 58.05 (n)
  • 55.34 (a)
wufi12g10 35
hsd3b7 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7724 36
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C32D5.12 36
  • 20 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG26 36
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
OneToMany
Species with no ortholog for HSD3B7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HSD3B7 Gene

ENSEMBL:
Gene Tree for HSD3B7 (if available)
TreeFam:
Gene Tree for HSD3B7 (if available)

Paralogs for HSD3B7 Gene

Paralogs for HSD3B7 Gene

(3) SIMAP similar genes for HSD3B7 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with HSD3B7: view

Variants for HSD3B7 Gene

Sequence variations from dbSNP and Humsavar for HSD3B7 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs9938550 - 30,987,821(+) GGGCA(A/G/T)CCCTG reference, synonymous-codon, missense
rs34212827 - 30,988,113(-) AGAAC(A/G)GGGGC downstream-variant-500B, reference, missense, utr-variant-3-prime
VAR_054775 Congenital bile acid synthesis defect 1 (CBAS1)
VAR_054776 Congenital bile acid synthesis defect 1 (CBAS1)
rs2305880 -- 30,988,141(-) ATGGT(A/G)CGGGT downstream-variant-500B, reference, synonymous-codon, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for HSD3B7 Gene

Variant ID Type Subtype PubMed ID
nsv905729 CNV Loss 21882294
nsv905733 CNV Loss 21882294
dgv35n68 CNV Loss 17160897
dgv2670n71 CNV Loss 21882294
dgv2671n71 CNV Loss 21882294
nsv457483 CNV Loss 19166990
nsv833193 CNV Gain+Loss 17160897
nsv905739 CNV Loss 21882294

Variation tolerance for HSD3B7 Gene

Residual Variation Intolerance Score: 37.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.24; 90.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HSD3B7 Gene

HapMap Linkage Disequilibrium report
HSD3B7
Human Gene Mutation Database (HGMD)
HSD3B7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD3B7 Gene

Disorders for HSD3B7 Gene

MalaCards: The human disease database

(7) MalaCards diseases for HSD3B7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bile acid synthesis defect, congenital, 1
  • cholestasis, progressive familial intrahepatic 4
cholestasis, progressive familial intrahepatic 4
  • bile acid synthesis defect, congenital, 1
hypercholanemia, familial
  • familial hypercholanemia
congenital bile acid synthesis defect
  • 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency
cholestasis
  • bile occlusion
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

3BHS7_HUMAN
  • Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765]: A primary defect in bile synthesis leading to progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis, cirrhosis. {ECO:0000269 PubMed:11067870, ECO:0000269 PubMed:12679481}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HSD3B7

Human Genome Epidemiology (HuGE) Navigator
HSD3B7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSD3B7
genes like me logo Genes that share disorders with HSD3B7: view

No data available for Genatlas for HSD3B7 Gene

Publications for HSD3B7 Gene

  1. The bile acid synthetic gene 3beta-hydroxy-delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis. (PMID: 11067870) Schwarz M. … Russell D.W. (J. Clin. Invest. 2000) 2 3 4 67
  2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  3. Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease. (PMID: 12679481) Cheng J.B. … Russell D.W. (J. Clin. Endocrinol. Metab. 2003) 3 23
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology. (PMID: 22095780) Molho-Pessach V. … Hobbs H.H. (Hepatology 2012) 3

Products for HSD3B7 Gene

Sources for HSD3B7 Gene

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