Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 80270, updated on 5-Aug-2018

    Summary

    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; Vega:OTTHUMG00000132417
    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

    Genomic context

    See HSD3B7 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (30985189..30989152)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30995949..31000473)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ORAI calcium release-activated calcium modulator 3 Neighboring gene SET domain containing 1A Neighboring gene syntaxin 1B Neighboring gene syntaxin 4

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3-beta-hydroxy-delta5-steroid dehydrogenase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    3-beta-hydroxy-delta5-steroid dehydrogenase activity TAS
    Traceable Author Statement
    more info
     
    cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    oxidoreductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    B cell chemotaxis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    bile acid biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    cholesterol catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lipid droplet IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    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
      5001..8955
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142777.1NP_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/Swiss-Prot
      Q9H2F3
      Related
      ENSP00000262520.6, OTTHUMP00000255053, ENST00000262520.10, OTTHUMT00000433646
      Conserved Domains (1) summary
      cl21454
      Location:11177
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    2. NM_001142778.1NP_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/Swiss-Prot
      Q9H2F3
      Conserved Domains (1) summary
      cl21454
      Location:11177
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    3. NM_025193.3NP_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, CA413388
      Consensus CDS
      CCDS10698.1
      UniProtKB/Swiss-Prot
      Q9H2F3
      Related
      ENSP00000297679.5, OTTHUMP00000163254, ENST00000297679.9, OTTHUMT00000255554
      Conserved Domains (2) summary
      cd09811
      Location:11361
      3b-HSD_HSDB1_like_SDR_e; human 3beta-HSD (hydroxysteroid dehydrogenase) and HSD3B1(delta 5-delta 4-isomerase)-like, extended (e) SDRs
      pfam01073
      Location:13291
      3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

      Range
      30985189..30989152
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for XP_011544262.1

      UniProtKB/Swiss-Prot
      Q9H2F3
      Conserved Domains (2) summary
      cd09811
      Location:11361
      3b-HSD_HSDB1_like_SDR_e; human 3beta-HSD (hydroxysteroid dehydrogenase) and HSD3B1(delta 5-delta 4-isomerase)-like, extended (e) SDRs
      pfam01073
      Location:13291
      3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family
    2. XM_017023732.1XP_016879221.1  3 beta-hydroxysteroid dehydrogenase type 7 isoform X2

      UniProtKB/Swiss-Prot
      Q9H2F3
      Related
      ENSP00000459689.1, OTTHUMP00000257515, ENST00000574447.1, OTTHUMT00000438647
      Conserved Domains (1) summary
      cl21454
      Location:11177
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    3. XM_011545961.1XP_011544263.1  3 beta-hydroxysteroid dehydrogenase type 7 isoform X1

      See identical proteins and their annotated locations for XP_011544263.1

      UniProtKB/Swiss-Prot
      Q9H2F3
      Conserved Domains (2) summary
      cd09811
      Location:11361
      3b-HSD_HSDB1_like_SDR_e; human 3beta-HSD (hydroxysteroid dehydrogenase) and HSD3B1(delta 5-delta 4-isomerase)-like, extended (e) SDRs
      pfam01073
      Location:13291
      3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family
    4. XM_005255601.3XP_005255658.2  3 beta-hydroxysteroid dehydrogenase type 7 isoform X1

      See identical proteins and their annotated locations for XP_005255658.2

      UniProtKB/Swiss-Prot
      Q9H2F3
      Conserved Domains (2) summary
      cd09811
      Location:11361
      3b-HSD_HSDB1_like_SDR_e; human 3beta-HSD (hydroxysteroid dehydrogenase) and HSD3B1(delta 5-delta 4-isomerase)-like, extended (e) SDRs
      pfam01073
      Location:13291
      3Beta_HSD; 3-beta hydroxysteroid dehydrogenase/isomerase family
    5. XM_011545962.2XP_011544264.1  3 beta-hydroxysteroid dehydrogenase type 7 isoform X2

      See identical proteins and their annotated locations for XP_011544264.1

      UniProtKB/Swiss-Prot
      Q9H2F3
      Conserved Domains (1) summary
      cl21454
      Location:11177
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    Support Center