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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
  • 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
  • CBAS1 3 6
  • 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
  • 3 Beta-Hydroxysteroid Dehydrogenase Type 7 3
  • C(27)-3BETA-HSD 3
  • EC 1.1.1.181 4
  • EC 1.1.1.- 4
  • Member 3 2
  • SDR11E3 3
  • PFIC4 3

External Ids for HSD3B7 Gene

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 congenital bile acid synthesis defect and bile acid synthesis defect, congenital, 1. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include 3-beta-hydroxy-delta5-steroid dehydrogenase activity and cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity. 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

Genomic Location for HSD3B7 Gene

Start:
30,984,668 bp from pter
End:
30,989,152 bp from pter
Size:
4,485 bases
Orientation:
Plus strand

Genomic View for HSD3B7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HSD3B7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD3B7 Gene

Regulatory Elements 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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for HSD3B7 Gene

Domains for HSD3B7 Gene

Gene Families for HSD3B7 Gene

HGNC:
  • SDRE :Short chain dehydrogenase/reductase superfamily / Extended SDR fold

Protein Domains for HSD3B7 Gene

UniProtKB/Swiss-Prot:

3BHS7_HUMAN
Family:
  • Belongs to the 3-beta-HSD family.:
    • Q9H2F3
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:0003824 catalytic activity --
GO:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity NAS 11067870
GO:0005515 protein binding IPI 25416956
GO:0016491 oxidoreductase activity --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor --
genes like me logo Genes that share ontologies with HSD3B7: view
genes like me logo Genes that share phenotypes with HSD3B7: view

Animal Models for HSD3B7 Gene

MGI Knock Outs for HSD3B7:

miRNA for HSD3B7 Gene

miRTarBase miRNAs that target HSD3B7

No data available for Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for HSD3B7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HSD3B7: view

Pathways 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 --
GO:0006699 bile acid biosynthetic process TAS 11067870
GO:0008152 metabolic process --
GO:0008206 bile acid metabolic process TAS --
GO:0009058 biosynthetic process --
genes like me logo Genes that share ontologies with HSD3B7: view

Compounds for HSD3B7 Gene

(5) HMDB Compounds for HSD3B7 Gene

Compound Synonyms Cas Number PubMed IDs
7 alpha,24-Dihydroxy-4-cholesten-3-one
Not Available
7 alpha,26-Dihydroxy-4-cholesten-3-one
  • 4-cholesten-7alpha,26-diol-3-one
4675-38-1
Campest-4-en-3-one
  • (24R)-ergost-4-en-3-one
Not Available
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
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 (10.6).

Integrated Proteomics: protein expression 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 expressions with HSD3B7: view

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
chimpanzee
(Pan troglodytes)
Mammalia HSD3B7 36
  • 99.28 (n)
  • 98.92 (a)
HSD3B7 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HSD3B7 36
  • 87.14 (n)
  • 90.22 (a)
HSD3B7 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSD3B7 36
  • 87.9 (n)
  • 89.7 (a)
HSD3B7 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hsd3b7 36
  • 83.83 (n)
  • 86.99 (a)
Hsd3b7 16
Hsd3b7 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HSD3B7 37
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HSD3B7 37
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hsd3b7 36
  • 83.98 (n)
  • 87.24 (a)
chicken
(Gallus gallus)
Aves HSD3B7 37
  • 39 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HSD3B7 37
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd3b7 36
  • 63.55 (n)
  • 62.61 (a)
zebrafish
(Danio rerio)
Actinopterygii hsd3b7 36
  • 58.05 (n)
  • 55.34 (a)
hsd3b7 37
  • 54 (a)
OneToOne
wufi12g10 36
fruit fly
(Drosophila melanogaster)
Insecta CG7724 37
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C32D5.12 37
  • 20 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG26 37
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs897987 -- 30,986,000(-) CAGAG(C/G)GCAGA intron-variant
rs2305880 -- 30,988,141(-) ATGGT(A/G)CGGGT utr-variant-3-prime, synonymous-codon, reference
rs4467098 -- 30,986,934(-) GCAGG(C/T)CCTGG intron-variant, missense, reference
rs4508431 -- 30,986,746(-) GTGCA(G/T)GGCAG intron-variant
rs9938550 - 30,987,821(+) GGGCA(A/G)CCCTG reference, synonymous-codon, missense

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

Relevant External Links for HSD3B7 Gene

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

Disorders for HSD3B7 Gene

(1) OMIM Diseases for HSD3B7 Gene (607764)

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.

(2) Novoseek inferred disease relationships for HSD3B7 Gene

Disease -log(P) Hits PubMed IDs
cholestasis 69.5 1
liver diseases 40.5 2

Relevant External Links for HSD3B7

Human Genome Epidemiology (HuGE) Navigator
HSD3B7
genes like me logo Genes that share disorders with HSD3B7: view

Publications for HSD3B7 Gene

  1. 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 4 23
  2. 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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3

Products for HSD3B7 Gene

Sources for HSD3B7 Gene

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