Gene: Sc5d

Basic information

Tag Content
Uniprot ID Q9EQS5
Entrez ID 114100
Genbank protein ID EDL95251.1; AAH81704.1; BAB19798.1;
Genbank nucleotide ID NM_053642.2; XM_017595406.1;
Ensembl protein ID ENSRNOP00000011284
Ensembl nucleotide ID ENSRNOG00000008305
Gene name Lathosterol oxidase
Gene symbol Sc5d
Organism Rattus norvegicus
NCBI taxa ID 10116
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol in cholesterol biosynthesis.
Sequence
MDLVLSAADY YFFTPYVYPA TWPEDNIIRQ TVSLLVVTNL GAYILYFFCA TLSYYFVYDH 60
SLMKHPQFLK NQVSREIMFT VKSLPWISIP TVSLFLLELR GYSKLYDDIG DFPNGWIHLI 120
MSVISFLFFT DMLIYWIHRG LHHRLLYKHI HKPHHIWKIP TPFASHAFHP VDGFLQSLPY 180
HIYPFVFPLH KVVYLGLYVL VNVWTISIHD GDFRVPQIFR PFINGSAHHT DHHMLFDYNY 240
GQYFTLWDRI GGSFKHPSSF EGKGPHSYVK NMTEKESNSL AENGCKSKKL CNGEFTKNE 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 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>>

Gene ontology

GO ID GO Term
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0016020 membrane
GO:0000248 C-5 sterol desaturase activity
GO:0005506 iron ion binding
GO:0050046 lathosterol oxidase activity
GO:0016491 oxidoreductase activity
GO:0033490 cholesterol biosynthetic process via lathosterol
GO:0006631 fatty acid metabolic process
GO:0016126 sterol biosynthetic process

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