Gene: Sc5d

Basic information

Tag Content
Uniprot ID O88822; Q8BGI0;
Entrez ID 235293
Genbank protein ID BAC36944.1; BAC31666.1; BAA33730.1;
Genbank nucleotide ID XM_006510253.2; NM_172769.2;
Ensembl protein ID ENSMUSP00000057354; ENSMUSP00000130438;
Ensembl nucleotide ID ENSMUSG00000032018
Gene name Lathosterol oxidase
Gene symbol Sc5d
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 12812989
Functional description Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol in cholesterol biosynthesis.
Sequence
MDLVLSAADY YFFTPYVYPA TWPEDNIIRQ TISLLIVTNL GAYILYFFCA TLSYYFVYDH 60
SLMKHPQFLK NQVSREIVFT VKSLPWISIP TVSLFLLELR GYSKLYDDIG DFPNGWIHLM 120
VSVVSFLFFT DMLIYWIHRG LHHRLVYKRI HKPHHIWKIP TPFASHAFHP VDGFLQSLPY 180
HIYPFVFPLH KVVYLGLYVL VNVWTISIHD GDFRVPQILR PFINGSAHHT DHHMFFDYNY 240
GQYFTLWDRI GGSFKHPSSF EGKGPHSYVK NMTEKESNSF AENGCKGKKV GNGEFTKNK 299

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 orthologSC5D525154Q3SYX8Bos taurusPredictionMore>>
1:1 orthologSC5DE2R5C8Canis lupus familiarisPredictionMore>>
1:1 orthologSC5DA0A452DVT9Capra hircusPredictionMore>>
1:1 orthologSC5D100063543F6PHM2Equus caballusPredictionMore>>
1:1 orthologSC5D6309O75845Homo sapiensPredictionMore>>
1:1 orthologSc5d235293O88822CPOMus musculusPublicationMore>>
1:1 orthologSC5D451624A0A2J8N215Pan troglodytesPredictionMore>>
1:1 ortholog100520925A0A4X1VKK3Sus scrofaPredictionMore>>
1:1 orthologSc5d114100Q9EQS5Rattus norvegicusPredictionMore>>
1:1 orthologsc5dF1QG97Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000248 C-5 sterol desaturase activityISO
GO:0000248 C-5 sterol desaturase activityIBA
GO:0005506 iron ion bindingIEA
GO:0016491 oxidoreductase activityIBA

GO:Biological Process

GO ID GO Term Evidence
GO:0016126 sterol biosynthetic processIBA
GO:0033490 cholesterol biosynthetic process via lathosterolISO
GO:0033490 cholesterol biosynthetic process via lathosterolIBA
GO:0055114 oxidation-reduction processIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005789 endoplasmic reticulum membraneIBA
GO:0016020 membraneIBA
GO:0016021 integral component of membraneIEA
GO:0043231 intracellular membrane-bounded organelleISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1430728 MetabolismIEA
R-MMU-191273 Cholesterol biosynthesisIEA
R-MMU-556833 Metabolism of lipidsIEA
R-MMU-6807047 Cholesterol biosynthesis via desmosterolIEA
R-MMU-6807062 Cholesterol biosynthesis via lathosterolIEA
R-MMU-8957322 Metabolism of steroidsIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0256 Endoplasmic reticulum
KW-0408 Iron
KW-0444 Lipid biosynthesis
KW-0443 Lipid metabolism
KW-0472 Membrane
KW-0560 Oxidoreductase
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0752 Steroid biosynthesis
KW-0753 Steroid metabolism
KW-0756 Sterol biosynthesis
KW-1207 Sterol metabolism
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR006694 Fatty_acid_hydroxylase

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF04116 FA_hydroxylase

Protein-miRNA interaction