HSD3B7

Protein identityUniProt · HPA

UniProt accession

Q9H2F3

Gene

HSD3B7

Ensembl

ENSG00000099377

Chromosome

16

Canonical length

369 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Lipid droplets

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

369 residues, UniProt reviewed canonical sequence.

>Q9H2F3|HSD3B7
     1  MADSAQAQKL VYLVTGGCGF LGEHVVRMLL QREPRLGELR VFDQHLGPWL EELKTGPVRV
    61  TAIQGDVTQA HEVAAAVAGA HVVIHTAGLV DVFGRASPKT IHEVNVQGTR NVIEACVQTG
   121  TRFLVYTSSM EVVGPNTKGH PFYRGNEDTP YEAVHRHPYP CSKALAEWLV LEANGRKVRG
   181  GLPLVTCALR PTGIYGEGHQ IMRDFYRQGL RLGGWLFRAI PASVEHGRVY VGNVAWMHVL
   241  AARELEQRAT LMGGQVYFCY DGSPYRSYED FNMEFLGPCG LRLVGARPLL PYWLLVFLAA
   301  LNALLQWLLR PLVLYAPLLN PYTLAVANTT FTVSTDKAQR HFGYEPLFSW EDSRTRTILW
   361  VQAATGSAQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HSD3B7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

2

Mean surface accessibility (rSASA)

0.24

Highest tissue expression

132 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HSD3B7.

Disease | AllUniProt

Conditions HSD3B7 is implicated in, by any mechanism.

• Congenital bile acid synthesis defect 1 (CBAS1) MIM:607765

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 211 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital bile acid synthesis defect 1
• HSD3B7-related disorder
• Congenital bile acid synthesis defect

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.33

gnomAD pLI

0

gnomAD missense Z

0.77

DepMap mean gene effect

-0.15

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• B cell chemotaxis
• bile acid biosynthetic process
• steroid biosynthetic process

Molecular functions

• 3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity
• oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
• cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity

Cellular components

• endoplasmic reticulum membrane
• lipid droplet

Protein domainsUniProt · Pfam · InterPro

• 3-beta hydroxysteroid dehydrogenase/isomerase
• NAD(P)-binding domain superfamily
• 3-beta hydroxysteroid dehydrogenase/isomerase family
• NAD(P)-dependent dehydratase-like

KeywordsUniProt

• Endoplasmic reticulum
• Intrahepatic cholestasis
• Lipid metabolism
• Membrane
• NAD
• Oxidoreductase
• Steroidogenesis
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of HSD3B7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• REEP4
• RUSF1
• TMX2