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Protein

Lathosterol oxidase

Gene

SC5D

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

Catalytic activityi

A Delta(7)-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

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism

Keywords - Ligandi

Iron, NAD, NADP

Enzyme and pathway databases

BioCyciMetaCyc:HS03271-MONOMER.
ZFISH: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

HGNCiHGNC:10547. SC5D.

Subcellular locationi

Topology

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

GO - Cellular componenti

Complete GO annotation...

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 rs104894295dbSNPEnsembl.1
Natural variantiVAR_02082946Y → S in LATHST. 1 PublicationCorresponds to variant rs104894297dbSNPEnsembl.1
Natural variantiVAR_014424211G → D in LATHST. 1 PublicationCorresponds to variant rs104894296dbSNPEnsembl.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.
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. 12 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.
OMAiHHKLIYK.
OrthoDBiEOG091G0C85.
PhylomeDBiO75845.
TreeFamiTF300797.

Family and domain databases

InterProiIPR006694. Fatty_acid_hydroxylase.
[Graphical view]
PfamiPF04116. FA_hydroxylase. 1 hit.
[Graphical view]

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 rs104894295dbSNPEnsembl.1
Natural variantiVAR_02082946Y → S in LATHST. 1 PublicationCorresponds to variant rs104894297dbSNPEnsembl.1
Natural variantiVAR_014424211G → D in LATHST. 1 PublicationCorresponds to variant rs104894296dbSNPEnsembl.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.

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliO75845.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112216. 12 interactors.
STRINGi9606.ENSP00000264027.

Chemistry databases

ChEMBLiCHEMBL3509588.
SwissLipidsiSLP:000001259.

PTM databases

iPTMnetiO75845.
PhosphoSitePlusiO75845.

Polymorphism and mutation databases

BioMutaiSC5D.

Proteomic databases

EPDiO75845.
PaxDbiO75845.
PeptideAtlasiO75845.
PRIDEiO75845.
TopDownProteomicsiO75845.

Protocols and materials databases

DNASUi6309.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi6309.
DisGeNETi6309.
GeneCardsiSC5D.
HGNCiHGNC:10547. SC5D.
HPAiHPA066283.
HPA070248.
MalaCardsiSC5D.
MIMi602286. gene.
607330. phenotype.
neXtProtiNX_O75845.
OpenTargetsiENSG00000109929.
Orphaneti46059. Lathosterolosis.
PharmGKBiPA34957.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciMetaCyc:HS03271-MONOMER.
ZFISH: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.

Miscellaneous databases

GeneWikiiSterol-C5-desaturase-like.
GenomeRNAii6309.
PROiO75845.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000109929.
CleanExiHS_SC5DL.
ExpressionAtlasiO75845. baseline and differential.
GenevisibleiO75845. HS.

Family and domain databases

InterProiIPR006694. Fatty_acid_hydroxylase.
[Graphical view]
PfamiPF04116. FA_hydroxylase. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSC5D_HUMAN
AccessioniPrimary (citable) accession number: O75845
Secondary accession number(s): O00119, Q6GTM5, Q9UK15
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 23, 2007
Last modified: November 2, 2016
This is version 148 of the entry and version 2 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.