Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Lathosterol oxidase

Gene

SC5D

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol.

Catalytic activityi

A Delta7-sterol + 2 ferrocytochrome b5 + O2 + 2 H+ = a Delta(5,7)-sterol + 2 ferricytochrome b5 + 2 H2O.By similarity

Cofactori

Fe cationBy similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
Biological processLipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism
LigandIron

Enzyme and pathway databases

BioCyciMetaCyc:HS03271-MONOMER
ReactomeiR-HSA-2426168 Activation of gene expression by SREBF (SREBP)
R-HSA-6807047 Cholesterol biosynthesis via desmosterol
R-HSA-6807062 Cholesterol biosynthesis via lathosterol

Chemistry databases

SwissLipidsiSLP:000001259

Names & Taxonomyi

Protein namesi
Recommended name:
Lathosterol oxidase (EC:1.14.19.20)
Alternative name(s):
C-5 sterol desaturase
Delta(7)-sterol 5-desaturase
Delta(7)-sterol C5(6)-desaturase
Lathosterol 5-desaturase
Sterol-C5-desaturase
Gene namesi
Name:SC5D
Synonyms:SC5DL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000109929.9
HGNCiHGNC:10547 SC5D
MIMi602286 gene
neXtProtiNX_O75845

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei32 – 52HelicalSequence analysisAdd BLAST21
Transmembranei79 – 99HelicalSequence analysisAdd BLAST21
Transmembranei117 – 137HelicalSequence analysisAdd BLAST21
Transmembranei186 – 206HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Lathosterolosis (LATHST)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive disorder characterized by a complex phenotype, including multiple congenital anomalies, mental retardation, and liver disease.
See also OMIM:607330
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01442329R → Q in LATHST. 1 PublicationCorresponds to variant dbSNP:rs104894295EnsemblClinVar.1
Natural variantiVAR_02082946Y → S in LATHST. 1 PublicationCorresponds to variant dbSNP:rs104894297EnsemblClinVar.1
Natural variantiVAR_014424211G → D in LATHST. 1 PublicationCorresponds to variant dbSNP:rs104894296EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6309
MalaCardsiSC5D
MIMi607330 phenotype
OpenTargetsiENSG00000109929
Orphaneti46059 Lathosterolosis
PharmGKBiPA34957

Chemistry databases

ChEMBLiCHEMBL3509588

Polymorphism and mutation databases

BioMutaiSC5D

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001170281 – 299Lathosterol oxidaseAdd BLAST299

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei253PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO75845
PaxDbiO75845
PeptideAtlasiO75845
PRIDEiO75845
ProteomicsDBi50227
TopDownProteomicsiO75845

PTM databases

iPTMnetiO75845
PhosphoSitePlusiO75845

Expressioni

Gene expression databases

BgeeiENSG00000109929
CleanExiHS_SC5DL
ExpressionAtlasiO75845 baseline and differential
GenevisibleiO75845 HS

Organism-specific databases

HPAiHPA066283
HPA070248

Interactioni

Protein-protein interaction databases

BioGridi112216, 16 interactors
STRINGi9606.ENSP00000264027

Structurei

3D structure databases

ProteinModelPortaliO75845
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi138 – 143Histidine box-16
Motifi151 – 155Histidine box-25
Motifi228 – 233Histidine box-36

Domaini

The histidine box domains may contain the active site and/or be involved in metal ion binding.

Sequence similaritiesi

Belongs to the sterol desaturase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0872 Eukaryota
COG3000 LUCA
GeneTreeiENSGT00550000075101
HOGENOMiHOG000200579
HOVERGENiHBG012628
InParanoidiO75845
KOiK00227
OMAiFINGSAH
OrthoDBiEOG091G0C85
PhylomeDBiO75845
TreeFamiTF300797

Family and domain databases

InterProiView protein in InterPro
IPR006694 Fatty_acid_hydroxylase
PfamiView protein in Pfam
PF04116 FA_hydroxylase, 1 hit

Sequencei

Sequence statusi: Complete.

O75845-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDLVLRVADY YFFTPYVYPA TWPEDDIFRQ AISLLIVTNV GAYILYFFCA
60 70 80 90 100
TLSYYFVFDH ALMKHPQFLK NQVRREIKFT VQALPWISIL TVALFLLEIR
110 120 130 140 150
GYSKLHDDLG EFPYGLFELV VSIISFLFFT DMFIYWIHRG LHHRLVYKRL
160 170 180 190 200
HKPHHIWKIP TPFASHAFHP IDGFLQSLPY HIYPFIFPLH KVVYLSLYIL
210 220 230 240 250
VNIWTISIHD GDFRVPQILQ PFINGSAHHT DHHMFFDYNY GQYFTLWDRI
260 270 280 290
GGSFKNPSSF EGKGPLSYVK EMTEGKRSSH SGNGCKNEKL FNGEFTKTE
Length:299
Mass (Da):35,301
Last modified:January 23, 2007 - v2
Checksum:i9EF8B20D522FAA56
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti216 – 299PQILQ…FTKTE → RMKNYSMESLQRLNRLLPSY S in BAA18970 (PubMed:8976377).CuratedAdd BLAST84
Sequence conflicti280H → P in BAA33729 (PubMed:10786622).Curated1
Sequence conflicti280H → P in BAB68218 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01442329R → Q in LATHST. 1 PublicationCorresponds to variant dbSNP:rs104894295EnsemblClinVar.1
Natural variantiVAR_02082946Y → S in LATHST. 1 PublicationCorresponds to variant dbSNP:rs104894297EnsemblClinVar.1
Natural variantiVAR_014424211G → D in LATHST. 1 PublicationCorresponds to variant dbSNP:rs104894296EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D85181 mRNA Translation: BAA18970.1
AF187981 mRNA Translation: AAF00544.1
AB016247 mRNA Translation: BAA33729.1
AB057650 Genomic DNA Translation: BAB68218.1
AK312634 mRNA Translation: BAG35518.1
AK222686 mRNA Translation: BAD96406.1
AK223141 mRNA Translation: BAD96861.1
CH471065 Genomic DNA Translation: EAW67520.1
BC012333 mRNA Translation: AAH12333.1
BC050427 mRNA Translation: AAH50427.1
CCDSiCCDS8435.1
RefSeqiNP_001020127.1, NM_001024956.2
NP_008849.2, NM_006918.4
UniGeneiHs.287749

Genome annotation databases

EnsembliENST00000264027; ENSP00000264027; ENSG00000109929
ENST00000392789; ENSP00000376539; ENSG00000109929
GeneIDi6309
KEGGihsa:6309
UCSCiuc001pxu.4 human

Similar proteinsi

Entry informationi

Entry nameiSC5D_HUMAN
AccessioniPrimary (citable) accession number: O75845
Secondary accession number(s): O00119, Q6GTM5, Q9UK15
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 23, 2007
Last modified: June 20, 2018
This is version 158 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health