Cell atlas - HSD3B7 - The Human Protein Atlas

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HSD3B7

TISSUE

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CELL

CANCER

CELL ATLAS RNA EXPRESSION HUMAN CELLS MOUSE CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Lipid droplets

Human cell
	Vesicles

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GENERAL INFORMATION
Gene name	HSD3B7
Gene description	Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Protein class	Disease related genes Enzymes Potential drug targets Predicted intracellular proteins Predicted membrane proteins
Predicted localization	Intracellular,Membrane
Number of transcripts	4
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to the lipid droplets.
RNA cell category	Cell line enhanced (U-2197, HMC-1, HDLM-2)
Protein evidence	Evidence at protein level
Main location	Localized to the Lipid droplets (supported)

DATA RELIABILITY
Reliability score	Supported based on 2 antibodies. HPA050521 , HPA060847
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (U-2197, HMC-1, HDLM-2) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the lipid droplets.

Main location

Lipid droplets (supported)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA050521	Hep G2	Lipid droplets
	HPA050521	MCF7	No staining
	HPA050521	U-2 OS	No staining
	HPA060847	Hep G2	Lipid droplets
	HPA060847	MCF7	Lipid droplets
	HPA060847	U-2 OS	No staining

MOUSE CELLS

Main location

Not available

Mouse gene

ENSMUSG00000042289 (version 83)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location
	HPA050521	NIH 3T3	No staining

GENE INFORMATION
Gene name	HSD3B7 (HGNC Symbol)
Synonyms	C(27)-3BETA-HSD, SDR11E3
Description	Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 (HGNC Symbol)
Entrez gene 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]
Chromosome	16
Cytoband	p11.2
Chromosome location (bp)	30985207 - 30989152
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000099377 (version 83.38)
Entrez gene	80270
UniProt	Q9H2F3 (UniProt - Evidence at protein level)
neXtProt	NX_Q9H2F3
Antibodypedia	HSD3B7 antibodies

PROTEIN BROWSER

HSD3B7-001	HSD3B7-002	HSD3B7-003	HSD3B7-004

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
HSD3B7-001 ENSP00000297679 ENST00000297679	Q9H2F3 [Direct mapping] 3 beta-hydroxysteroid dehydrogenase type 7 Show all	Enzymes ENZYME proteins Oxidoreductases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003854 [3-beta-hydroxy-delta5-steroid dehydrogenase activity] GO:0005515 [protein binding] GO:0005575 [cellular_component] GO:0005789 [endoplasmic reticulum membrane] GO:0006694 [steroid biosynthetic process] GO:0006699 [bile acid biosynthetic process] GO:0008206 [bile acid metabolic process] GO:0016021 [integral component of membrane] GO:0016616 [oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0044281 [small molecule metabolic process] GO:0047016 [cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity] GO:0055114 [oxidation-reduction process] Show all	369 aa 41 kDa	No	1
HSD3B7-002 ENSP00000262520 ENST00000262520	Q9H2F3 [Direct mapping] 3 beta-hydroxysteroid dehydrogenase type 7 Show all	Enzymes ENZYME proteins Oxidoreductases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003854 [3-beta-hydroxy-delta5-steroid dehydrogenase activity] GO:0005515 [protein binding] GO:0005575 [cellular_component] GO:0005789 [endoplasmic reticulum membrane] GO:0006694 [steroid biosynthetic process] GO:0006699 [bile acid biosynthetic process] GO:0008206 [bile acid metabolic process] GO:0016021 [integral component of membrane] GO:0016616 [oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0044281 [small molecule metabolic process] GO:0047016 [cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity] GO:0055114 [oxidation-reduction process] Show all	196 aa 21.3 kDa	No	0
HSD3B7-003 ENSP00000459852 ENST00000562932	I3L2Q9 [Direct mapping] 3 beta-hydroxysteroid dehydrogenase type 7 Show all	SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0003854 [3-beta-hydroxy-delta5-steroid dehydrogenase activity] GO:0006694 [steroid biosynthetic process] GO:0016616 [oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0055114 [oxidation-reduction process] Show all	219 aa 24 kDa	No	0
HSD3B7-004 ENSP00000459689 ENST00000574447	I3L2H6 [Direct mapping] 3 beta-hydroxysteroid dehydrogenase type 7 Show all	SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0003854 [3-beta-hydroxy-delta5-steroid dehydrogenase activity] GO:0006694 [steroid biosynthetic process] GO:0016616 [oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0055114 [oxidation-reduction process] Show all	176 aa 19.2 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.