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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 8-May-2016
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 HPRD:09680; 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]
Orthologs
Location:
16p11.2
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (30985110..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 FBXL19 antisense RNA 1 (head to head) Neighboring gene F-box and leucine-rich repeat protein 19 Neighboring gene SET domain containing 1A Neighboring gene ORAI calcium release-activated calcium modulator 3 Neighboring gene syntaxin 1B Neighboring gene syntaxin 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

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 IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
bile acid biosynthetic process TAS
Traceable Author Statement
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
 
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

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, OTTHUMP00000255053, ENST00000262520, OTTHUMT00000433646
    Conserved Domains (2) summary
    COG0451
    Location:13185
    WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]
    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 (2) summary
    COG0451
    Location:13185
    WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]
    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, OTTHUMP00000163254, ENST00000297679, 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
    COG0451
    Location:13360
    WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    30985110..30989152
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545960.1XP_011544262.1  

    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
    COG0451
    Location:13360
    WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]
  2. XM_011545961.1XP_011544263.1  

    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
    COG0451
    Location:13360
    WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]
  3. XM_005255601.3XP_005255658.2  

    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
    COG0451
    Location:13360
    WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]
  4. XM_011545962.1XP_011544264.1  

    See identical proteins and their annotated locations for XP_011544264.1

    UniProtKB/Swiss-Prot
    Q9H2F3
    Related
    ENSP00000459689, OTTHUMP00000257515, ENST00000574447, OTTHUMT00000438647
    Conserved Domains (2) summary
    COG0451
    Location:13185
    WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]
    cl21454
    Location:11177
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    32313519..32317473
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)