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O75845 (SC5D_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 127. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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:SC5D
Synonyms:SC5DL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length299 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Lathosterolosis (LATHST) [MIM:607330]: Autosomal recessive disorder characterized by a complex phenotype, including multiple congenital anomalies, mental retardation, and liver disease.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.11

Sequence similarities

Belongs to the sterol desaturase family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 299299Lathosterol oxidase
PRO_0000117028

Regions

Transmembrane32 – 5221Helical; Potential
Transmembrane79 – 9921Helical; Potential
Transmembrane117 – 13721Helical; Potential
Transmembrane186 – 20621Helical; Potential
Motif138 – 1436Histidine box-1
Motif151 – 1555Histidine box-2
Motif228 – 2336Histidine box-3

Amino acid modifications

Modified residue2531Phosphoserine Ref.9

Natural variations

Natural variant291R → Q in LATHST. Ref.10
VAR_014423
Natural variant461Y → S in LATHST. Ref.11
VAR_020829
Natural variant2111G → D in LATHST. Ref.10
VAR_014424

Experimental info

Sequence conflict216 – 29984PQILQ…FTKTE → RMKNYSMESLQRLNRLLPSY S in BAA18970. Ref.1
Sequence conflict2801H → P in BAA33729. Ref.3
Sequence conflict2801H → P in BAB68218. Ref.4

Sequences

Sequence LengthMass (Da)Tools
O75845 [UniParc].

Last modified January 23, 2007. Version 2.
Checksum: 9EF8B20D522FAA56

FASTA29935,301
        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 

« Hide

References

« Hide '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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[6]Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain and Kidney.
[7]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Lung.
[9]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-253, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS LATHST GLN-29 AND ASP-211.
[11]"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] [Europe PMC] [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.
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.
CCDSCCDS8435.1.
RefSeqNP_001020127.1. NM_001024956.2.
NP_008849.2. NM_006918.4.
UniGeneHs.287749.

3D structure databases

ProteinModelPortalO75845.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112216. 1 interaction.
STRING9606.ENSP00000264027.

PTM databases

PhosphoSiteO75845.

Proteomic databases

PaxDbO75845.
PRIDEO75845.

Protocols and materials databases

DNASU6309.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000264027; ENSP00000264027; ENSG00000109929.
ENST00000392789; ENSP00000376539; ENSG00000109929.
GeneID6309.
KEGGhsa:6309.
UCSCuc001pxu.3. human.

Organism-specific databases

CTD6309.
GeneCardsGC11P121163.
HGNCHGNC:10547. SC5D.
MIM602286. gene.
607330. phenotype.
neXtProtNX_O75845.
Orphanet46059. Lathosterolosis.
PharmGKBPA34957.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG3000.
HOGENOMHOG000200579.
HOVERGENHBG012628.
InParanoidO75845.
KOK00227.
OMAFFCATLS.
OrthoDBEOG7NSB2T.
PhylomeDBO75845.
TreeFamTF300797.

Enzyme and pathway databases

BioCycMetaCyc:HS03271-MONOMER.
ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressO75845.
BgeeO75845.
CleanExHS_SC5DL.
GenevestigatorO75845.

Family and domain databases

InterProIPR006694. Fatty_acid_hydroxylase.
[Graphical view]
PfamPF04116. FA_hydroxylase. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSC5DL. human.
GeneWikiSterol-C5-desaturase-like.
GenomeRNAi6309.
NextBio24491.
PROO75845.
SOURCESearch...

Entry information

Entry nameSC5D_HUMAN
AccessionPrimary (citable) accession number: O75845
Secondary accession number(s): O00119, Q6GTM5, Q9UK15
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 23, 2007
Last modified: July 9, 2014
This is version 127 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM