O75845 (SC5D_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Lathosterol oxidase
EC=1.14.21.6

Alternative name(s):
C-5 sterol desaturase
Delta(7)-sterol 5-desaturase
Lathosterol 5-desaturase
Sterol-C5-desaturase

Gene names

Name:

SC5DL

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	299 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol.
Catalytic activity	5-alpha-cholest-7-en-3-beta-ol + NAD(P)H + O2 = cholesta-5,7-dien-3-beta-ol + NAD(P)+ + 2 H2O.
Cofactor	Iron By similarity.
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane protein Probable.
Domain	The histidine box domains may contain the active site and/or be involved in metal ion binding.
Involvement in disease	Defects in SC5DL are the cause of lathosterolosis (LATHST) [MIM:607330]. This autosomal recessive disorder is characterized by a complex phenotype, including multiple congenital anomalies, mental retardation, and liver disease. Ref.6 Ref.7
Sequence similarities	Belongs to the sterol desaturase family.

Ontologies

Keywords
Biological process	Lipid synthesis Steroid biosynthesis Sterol biosynthesis
Cellular component	Endoplasmic reticulum Membrane
Disease	Disease mutation
Domain	Transmembrane Transmembrane helix
Ligand	Iron NAD NADP
Molecular function	Oxidoreductase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	fatty acid biosynthetic process Inferred from electronic annotation. Source: InterPro
Cellular component	endoplasmic reticulum membrane Traceable author statement. Source: Reactome integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	C-5 sterol desaturase activity Traceable author statement. Source: ProtInc iron ion binding Inferred from electronic annotation. Source: InterPro lathosterol oxidase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 299	299	Lathosterol oxidase		PRO_0000117028
Regions
	Transmembrane	32 – 52	21	Helical; Potential
	Transmembrane	79 – 99	21	Helical; Potential
	Transmembrane	117 – 137	21	Helical; Potential
	Transmembrane	186 – 206	21	Helical; Potential
	Motif	138 – 143	6	Histidine box-1
	Motif	151 – 155	5	Histidine box-2
	Motif	228 – 233	6	Histidine box-3
Natural variations
	Natural variant	29	1	R → Q in LATHST. Ref.6		VAR_014423
	Natural variant	46	1	Y → S in LATHST. Ref.7		VAR_020829
	Natural variant	211	1	G → D in LATHST. Ref.6		VAR_014424
Experimental info
	Sequence conflict	216 – 299	84	PQILQ…FTKTE → RMKNYSMESLQRLNRLLPSY S in BAA18970. Ref.1
	Sequence conflict	280	1	H → P in BAA33729. Ref.3
	Sequence conflict	280	1	H → P in BAB68218. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	O75845 [UniParc]. Last modified January 23, 2007. Version 2. Checksum: 9EF8B20D522FAA56	FASTA	299	35,301
	10 20 30 40 50 60 MDLVLRVADY YFFTPYVYPA TWPEDDIFRQ AISLLIVTNV GAYILYFFCA TLSYYFVFDH 70 80 90 100 110 120 ALMKHPQFLK NQVRREIKFT VQALPWISIL TVALFLLEIR GYSKLHDDLG EFPYGLFELV 130 140 150 160 170 180 VSIISFLFFT DMFIYWIHRG LHHRLVYKRL HKPHHIWKIP TPFASHAFHP IDGFLQSLPY 190 200 210 220 230 240 HIYPFIFPLH KVVYLSLYIL VNIWTISIHD GDFRVPQILQ PFINGSAHHT DHHMFFDYNY 250 260 270 280 290 GQYFTLWDRI GGSFKNPSSF EGKGPLSYVK EMTEGKRSSH SGNGCKNEKL FNGEFTKTE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and mapping of a human cDNA(SC5DL) encoding a protein homologous to fungal sterol-C5-desaturase." Matsushima M., Inazawa J., Takahashi E., Suzumori K., Nakamura Y. Cytogenet. Cell Genet. 74:252-254(1996) [PubMed: 8976377] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Delta7-sterol-C5-desaturase: molecular characterization and functional expression of wild-type and mutant alleles." Husselstein T., Schaller H., Gachotte D., Benveniste P. Plant Mol. Biol. 39:891-906(1999) [PubMed: 10344195] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: B-cell.
[3]	"cDNA cloning of the mammalian sterol C5-desaturase and the expression in yeast mutant." Nishi S., Nishino H., Ishibashi T. Biochim. Biophys. Acta 1490:106-108(2000) [PubMed: 10786622] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Liver.
[4]	"Human sterol C5 desaturase promoter." Sugawara T. Submitted (MAR-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Lung.
[6]	"Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase." Brunetti-Pierri N., Corso G., Rossi M., Ferrari P., Balli F., Rivasi F., Annunziata I., Ballabio A., Dello Russo A., Andria G., Parenti G. Am. J. Hum. Genet. 71:952-958(2002) [PubMed: 12189593] [Abstract] Cited for: VARIANTS LATHST GLN-29 AND ASP-211.
[7]	"Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency." Krakowiak P.A., Wassif C.A., Kratz L., Cozma D., Kovarova M., Harris G., Grinberg A., Yang Y., Hunter A.G.W., Tsokos M., Kelley R.I., Porter F.D. Hum. Mol. Genet. 12:1631-1641(2003) [PubMed: 12812989] [Abstract] Cited for: VARIANT LATHST SER-46.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	D85181 mRNA. Translation: BAA18970.1. AF187981 mRNA. Translation: AAF00544.1. AB016247 mRNA. Translation: BAA33729.1. AB057650 Genomic DNA. Translation: BAB68218.1. BC012333 mRNA. Translation: AAH12333.1.
IPI	IPI00027181.
RefSeq	NP_001020127.1. NM_001024956.2. NP_008849.2. NM_006918.4.
UniGene	Hs.287749.
3D structure databases
ProteinModelPortal	O75845.
ModBase	Search...
Protein-protein interaction databases
STRING	O75845.
Proteomic databases
PRIDE	O75845.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000264027; ENSP00000264027; ENSG00000109929. ENST00000392789; ENSP00000376539; ENSG00000109929.
GeneID	6309.
KEGG	hsa:6309.
UCSC	uc001pxu.1. human.
Organism-specific databases
CTD	6309.
GeneCards	GC11P121197.
H-InvDB	HIX0010205.
HGNC	HGNC:10547. SC5DL.
MIM	602286. gene. 607330. phenotype.
neXtProt	NX_O75845.
Orphanet	46059. Lathosterolosis.
PharmGKB	PA34957.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG18049.
HOGENOM	HBG559159.
HOVERGEN	HBG012628.
InParanoid	O75845.
OMA	PWISIPT.
OrthoDB	EOG43JC5C.
PhylomeDB	O75845.
Enzyme and pathway databases
BioCyc	MetaCyc:ENSG00000109929-MONOMER.
Reactome	REACT_22258. Metabolism of lipids and lipoproteins.
Gene expression databases
ArrayExpress	O75845.
Bgee	O75845.
CleanEx	HS_SC5DL.
Genevestigator	O75845.
GermOnline	ENSG00000109929. Homo sapiens.
Family and domain databases
InterPro	IPR006694. Fatty_acid_hydroxylase. [Graphical view]
KO	K00227.
Pfam	PF04116. FA_hydroxylase. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	24491.
SOURCE	Search...

Entry information

Entry name

SC5D_HUMAN

Accession

Primary (citable) accession number: O75845
Secondary accession number(s): O00119, Q9UK15

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	January 23, 2007
Last modified:	January 25, 2012
This is version 106 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.