Human Gene HSD17B7 (uc001gci.3)
  Description: Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 (HSD17B7), mRNA.
RefSeq Summary (NM_016371): HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010].
Transcript (Including UTRs)
   Position: hg19 chr1:162,760,496-162,782,608 Size: 22,113 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr1:162,760,591-162,782,210 Size: 21,620 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:162,760,496-162,782,608)mRNA (may differ from genome)Protein (341 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DHB7_HUMAN
DESCRIPTION: RecName: Full=3-keto-steroid reductase; EC=1.1.1.270; AltName: Full=17-beta-hydroxysteroid dehydrogenase 7; Short=17-beta-HSD 7; AltName: Full=Estradiol 17-beta-dehydrogenase 7; EC=1.1.1.62;
FUNCTION: Responsible for the reduction of the keto group on the C-3 of sterols.
CATALYTIC ACTIVITY: 4-alpha-methyl-5-alpha-cholest-7-en-3-beta-ol + NADP(+) = 4-alpha-methyl-5-alpha-cholest-7-en-3-one + NADPH.
CATALYTIC ACTIVITY: Estradiol-17-beta + NAD(P)(+) = estrone + NAD(P)H.
PATHWAY: Steroid biosynthesis; estrogen biosynthesis.
PATHWAY: Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 5/6.
SUBCELLULAR LOCATION: Cell membrane; Single-pass membrane protein.
TISSUE SPECIFICITY: Highly expressed in adrenal gland, liver, lung and thymus. Expressed in breast, ovaries, pituitary gland, pregnant uterus, prostate, kidney, lymph node, small intestine, spinal cord and trachea. Weakly expressed in all other tissues tested. Isoform 3 is expressed in eye ciliary epithelial cells and neuroendocrine cells.
PTM: Phosphorylated.
SIMILARITY: Belongs to the short-chain dehydrogenases/reductases (SDR) family. ERG27 subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): HSD17B7
CDC HuGE Published Literature: HSD17B7

-  MalaCards Disease Associations
  MalaCards Gene Search: HSD17B7
Diseases sorted by gene-association score: x-linked chondrodysplasia punctata (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D004051 Diethylhexyl Phthalate
  • D010634 Phenobarbital
  • D013749 Tetrachlorodibenzodioxin
  • C028474 1,4-bis(2-(3,5-dichloropyridyloxy))benzene
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C404910 2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane
  • C023035 3,4,5,3',4'-pentachlorobiphenyl
  • C009505 4,4'-diaminodiphenylmethane
  • C105260 4-tert-octylphenol
  • D015124 8-Bromo Cyclic Adenosine Monophosphate
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.94 RPKM in Liver
Total median expression: 171.04 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -28.0095-0.295 Picture PostScript Text
3' UTR -125.80398-0.316 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002198 - DH_sc/Rdtase_SDR
IPR002347 - Glc/ribitol_DH
IPR016040 - NAD(P)-bd_dom

Pfam Domains:
PF00106 - short chain dehydrogenase
PF08659 - KR domain
PF13561 - Enoyl-(Acyl carrier protein) reductase

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains

ModBase Predicted Comparative 3D Structure on P56937
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGDEnsembl  SGD
 Protein SequenceProtein Sequence  Protein Sequence
 AlignmentAlignment  Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000253 3-keto sterol reductase activity
GO:0004303 estradiol 17-beta-dehydrogenase activity
GO:0016491 oxidoreductase activity

Biological Process:
GO:0006629 lipid metabolic process
GO:0006694 steroid biosynthetic process
GO:0006695 cholesterol biosynthetic process
GO:0006703 estrogen biosynthetic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  LF205442 - JP 2014500723-A/12945: Polycomb-Associated Non-Coding RNAs.
AK022929 - Homo sapiens cDNA FLJ12867 fis, clone NT2RP2003702, highly similar to Homo sapiens 17 beta-hydroxysteroid dehydrogenase type VII (HSD17B7) mRNA.
AF145023 - Homo sapiens ovarian-specific protein mRNA, complete cds.
BC065246 - Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7, mRNA (cDNA clone MGC:75018 IMAGE:6062803), complete cds.
AK290741 - Homo sapiens cDNA FLJ76137 complete cds, highly similar to Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 (HSD17B7), mRNA.
BC007068 - Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7, mRNA (cDNA clone MGC:12523 IMAGE:3997494), complete cds.
LF320583 - JP 2014500723-A/128086: Polycomb-Associated Non-Coding RNAs.
AJ249179 - Homo sapiens mRNA for 17beta-hydroxysteroid dehydrogenase type 7.
AF098786 - Homo sapiens 17 beta-hydroxysteroid dehydrogenase type VII (HSD17B7) mRNA, complete cds.
AY358962 - Homo sapiens clone DNA108935 HSD17B7 (UNQ2563) mRNA, complete cds.
CU688024 - Synthetic construct Homo sapiens gateway clone IMAGE:100021664 5' read HSD17B7 mRNA.
CU675533 - Synthetic construct Homo sapiens gateway clone IMAGE:100019017 5' read HSD17B7 mRNA.
GQ129366 - Synthetic construct Homo sapiens clone HAIB:100068693; DKFZo004E0736 hydroxysteroid (17-beta) dehydrogenase 7 protein (HSD17B7) gene, partial cds.
BT007075 - Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 mRNA, complete cds.
KJ893920 - Synthetic construct Homo sapiens clone ccsbBroadEn_03314 HSD17B7 gene, encodes complete protein.
KJ898903 - Synthetic construct Homo sapiens clone ccsbBroadEn_08297 HSD17B7 gene, encodes complete protein.
GQ129367 - Synthetic construct Homo sapiens clone HAIB:100068596; DKFZo008E0735 hydroxysteroid (17-beta) dehydrogenase 7 protein (HSD17B7) gene, complete cds.
JD168724 - Sequence 149748 from Patent EP1572962.
JD039940 - Sequence 20964 from Patent EP1572962.
JD481213 - Sequence 462237 from Patent EP1572962.
JD179312 - Sequence 160336 from Patent EP1572962.
JD380900 - Sequence 361924 from Patent EP1572962.
JD380901 - Sequence 361925 from Patent EP1572962.
JD380902 - Sequence 361926 from Patent EP1572962.
JD361884 - Sequence 342908 from Patent EP1572962.
JD186030 - Sequence 167054 from Patent EP1572962.
JD340668 - Sequence 321692 from Patent EP1572962.
JD499632 - Sequence 480656 from Patent EP1572962.
JD286626 - Sequence 267650 from Patent EP1572962.
JD511473 - Sequence 492497 from Patent EP1572962.
JD522285 - Sequence 503309 from Patent EP1572962.
JD079468 - Sequence 60492 from Patent EP1572962.
JD266511 - Sequence 247535 from Patent EP1572962.
JD178707 - Sequence 159731 from Patent EP1572962.
JD341218 - Sequence 322242 from Patent EP1572962.
JD431251 - Sequence 412275 from Patent EP1572962.
JD155943 - Sequence 136967 from Patent EP1572962.
JD229464 - Sequence 210488 from Patent EP1572962.
JD366720 - Sequence 347744 from Patent EP1572962.
JD518004 - Sequence 499028 from Patent EP1572962.
JD518003 - Sequence 499027 from Patent EP1572962.
JD220052 - Sequence 201076 from Patent EP1572962.
MA441019 - JP 2018138019-A/12945: Polycomb-Associated Non-Coding RNAs.
MA556160 - JP 2018138019-A/128086: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00100 - Steroid biosynthesis
hsa00140 - Steroid hormone biosynthesis
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY3DJ-2 - biosynthesis of estrogens
PWY3DJ-8 - biosynthesis of androgens
PWY66-3 - cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
PWY66-341 - cholesterol biosynthesis I
PWY66-4 - cholesterol biosynthesis III (via desmosterol)

Reactome (by CSHL, EBI, and GO)

Protein P56937 (Reactome details) participates in the following event(s):

R-HSA-194632 Zymosterone (cholesta-8(9),24-dien-3-one) is reduced to zymosterol (cholesta-8(9),24-dien-3beta-ol)
R-HSA-194689 4-methylcholesta-8(9),24-dien-3-one is reduced to 4-methylcholesta-8(9),24-dien-3beta-ol
R-HSA-191273 Cholesterol biosynthesis
R-HSA-8957322 Metabolism of steroids
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: DHB7_HUMAN, NM_016371, NP_057455, P56937, Q5T246, Q7Z4V9, Q8WWS2, Q9UF00, UNQ2563/PRO6243
UCSC ID: uc001gci.3
RefSeq Accession: NM_016371
Protein: P56937 (aka DHB7_HUMAN)
CCDS: CCDS1242.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_016371.2
exon count: 9CDS single in 3' UTR: no RNA size: 1533
ORF size: 1026CDS single in intron: no Alignment % ID: 99.93
txCdsPredict score: 2159.00frame shift in genome: no % Coverage: 99.09
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.