Gene: Hsd17b7

Basic information

Tag Content
Uniprot ID O88736; Q8K5C9; Q921L1;
Entrez ID 15490
Genbank protein ID BAC34124.1; CAC88119.1; CAA75742.1; BAC25918.1; AAM21211.1;
Genbank nucleotide ID NM_010476.3
Ensembl protein ID ENSMUSP00000027989
Ensembl nucleotide ID ENSMUSG00000026675
Gene name 3-keto-steroid reductase
Gene symbol Hsd17b7
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 21515572
Functional description Responsible for the reduction of the keto group on the C-3 of sterols.
Sequence
MRKVVLITGA SSGIGLALCG RLLAEDDDLH LCLACRNLSK ARAVRDTLLA SHPSAEVSIV 60
QMDVSSLQSV VRGAEEVKQK FQRLDYLYLN AGILPNPQFN LKAFFCGIFS RNVIHMFTTA 120
EGILTQNDSV TADGLQEVFE TNLFGHFILI RELEPLLCHA DNPSQLIWTS SRNAKKANFS 180
LEDIQHSKGP EPYSSSKYAT DLLNVALNRN FNQKGLYSSV MCPGVVMTNM TYGILPPFIW 240
TLLLPIMWLL RFFVNALTVT PYNGAEALVW LFHQKPESLN PLTKYASATS GFGTNYVTGQ 300
KMDIDEDTAE KFYEVLLELE KRVRTTVQKS DHPS 334

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologHSD17B7505212A4FUD2Bos taurusPredictionMore>>
1:1 orthologHSD17B7609364E2RNT4Canis lupus familiarisPredictionMore>>
1:1 orthologHSD17B7102179058A0A452DSV0Capra hircusPredictionMore>>
1:1 orthologHSD17B751478P56937Homo sapiensPredictionMore>>
1:1 orthologHsd17b715490O88736CPOMus musculusPublicationMore>>
1:1 orthologHSD17B7H2Q1T6Pan troglodytesPredictionMore>>
1:1 orthologHSD17B7F1S213Sus scrofaPredictionMore>>
1:1 orthologHsd17b729540Q62904Rattus norvegicusPredictionMore>>
1:1 orthologhsd17b7768185Q08BC5Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000253 3-keto sterol reductase activityIDA
GO:0000253 3-keto sterol reductase activityIBA
GO:0004303 estradiol 17-beta-dehydrogenase activityIEA
GO:0005148 prolactin receptor bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0006695 cholesterol biosynthetic processIDA
GO:0006695 cholesterol biosynthetic processIBA
GO:0006703 estrogen biosynthetic processIEA
GO:0007399 nervous system developmentIMP
GO:0030154 cell differentiationIMP
GO:0048706 embryonic skeletal system developmentIMP
GO:0055114 oxidation-reduction processIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005783 endoplasmic reticulumIDA
GO:0005783 endoplasmic reticulumIBA
GO:0005886 plasma membraneIEA
GO:0016020 membraneISO
GO:0016021 integral component of membraneIEA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1430728 MetabolismIEA
R-MMU-191273 Cholesterol biosynthesisIEA
R-MMU-556833 Metabolism of lipidsIEA
R-MMU-8957322 Metabolism of steroidsIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-1003 Cell membrane
KW-0325 Glycoprotein
KW-0444 Lipid biosynthesis
KW-0443 Lipid metabolism
KW-0472 Membrane
KW-0520 NAD
KW-0521 NADP
KW-0560 Oxidoreductase
KW-1185 Reference proteome
KW-0752 Steroid biosynthesis
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR042829 HSD17B7
IPR036291 NAD(P)-bd_dom_sf
IPR002347 SDR_fam

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF00106 adh_short

Protein-protein interaction

Protein-miRNA interaction