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Q14534

- ERG1_HUMAN

UniProt

Q14534 - ERG1_HUMAN

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Protein

Squalene monooxygenase

Gene
SQLE, ERG1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Catalyzes the first oxygenation step in sterol biosynthesis and is suggested to be one of the rate-limiting enzymes in this pathway.

Catalytic activityi

Squalene + NADPH + O2 = (3S)-2,3-epoxy-2,3-dihydrosqualene + NADP+ + H2O.

Cofactori

FAD.

Pathwayi

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi126 – 15328FAD Reviewed predictionAdd
BLAST

GO - Molecular functioni

  1. flavin adenine dinucleotide binding Source: InterPro
  2. squalene monooxygenase activity Source: UniProtKB

GO - Biological processi

  1. cellular aromatic compound metabolic process Source: Ensembl
  2. cholesterol biosynthetic process Source: Reactome
  3. response to organic substance Source: Ensembl
  4. small molecule metabolic process Source: Reactome
  5. sterol biosynthetic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

FAD, Flavoprotein, NADP

Enzyme and pathway databases

BioCyciMetaCyc:HS02595-MONOMER.
ReactomeiREACT_147904. Activation of gene expression by SREBF (SREBP).
REACT_9405. Cholesterol biosynthesis.
SABIO-RKQ14534.
UniPathwayiUPA00767; UER00752.

Names & Taxonomyi

Protein namesi
Recommended name:
Squalene monooxygenase (EC:1.14.13.132)
Alternative name(s):
Squalene epoxidase
Short name:
SE
Gene namesi
Name:SQLE
Synonyms:ERG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:11279. SQLE.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei20 – 4021Helical; Reviewed predictionAdd
BLAST
Transmembranei61 – 8121Helical; Reviewed predictionAdd
BLAST
Transmembranei123 – 14321Helical; Reviewed predictionAdd
BLAST
Transmembranei546 – 56621Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: Reactome
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA36108.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 574574Squalene monooxygenasePRO_0000209838Add
BLAST

Proteomic databases

MaxQBiQ14534.
PaxDbiQ14534.
PRIDEiQ14534.

PTM databases

PhosphoSiteiQ14534.

Expressioni

Gene expression databases

ArrayExpressiQ14534.
BgeeiQ14534.
CleanExiHS_SQLE.
GenevestigatoriQ14534.

Organism-specific databases

HPAiHPA018038.
HPA020762.

Interactioni

Subunit structurei

May form a complex with squalene synthase.

Protein-protein interaction databases

BioGridi112591. 5 interactions.
IntActiQ14534. 3 interactions.
STRINGi9606.ENSP00000265896.

Structurei

3D structure databases

ProteinModelPortaliQ14534.
SMRiQ14534. Positions 116-182.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0654.
HOGENOMiHOG000174713.
HOVERGENiHBG005603.
InParanoidiQ14534.
KOiK00511.
OMAiFITLANR.
OrthoDBiEOG7J446G.
PhylomeDBiQ14534.
TreeFamiTF331056.

Family and domain databases

InterProiIPR001327. Pyr_OxRdtase_NAD-bd_dom.
IPR003042. Rng_hydrolase-like.
IPR013698. Squalene_epoxidase.
[Graphical view]
PfamiPF00070. Pyr_redox. 1 hit.
PF08491. SE. 1 hit.
[Graphical view]
PRINTSiPR00420. RNGMNOXGNASE.

Sequencei

Sequence statusi: Complete.

Q14534-1 [UniParc]FASTAAdd to Basket

« Hide

MWTFLGIATF TYFYKKFGDF ITLANREVLL CVLVFLSLGL VLSYRCRHRN    50
GGLLGRQQSG SQFALFSDIL SGLPFIGFFW AKSPPESENK EQLEARRRRK 100
GTNISETSLI GTAACTSTSS QNDPEVIIVG AGVLGSALAA VLSRDGRKVT 150
VIERDLKEPD RIVGEFLQPG GYHVLKDLGL GDTVEGLDAQ VVNGYMIHDQ 200
ESKSEVQIPY PLSENNQVQS GRAFHHGRFI MSLRKAAMAE PNAKFIEGVV 250
LQLLEEDDVV MGVQYKDKET GDIKELHAPL TVVADGLFSK FRKSLVSNKV 300
SVSSHFVGFL MKNAPQFKAN HAELILANPS PVLIYQISSS ETRVLVDIRG 350
EMPRNLREYM VEKIYPQIPD HLKEPFLEAT DNSHLRSMPA SFLPPSSVKK 400
RGVLLLGDAY NMRHPLTGGG MTVAFKDIKL WRKLLKGIPD LYDDAAIFEA 450
KKSFYWARKT SHSFVVNILA QALYELFSAT DDSLHQLRKA CFLYFKLGGE 500
CVAGPVGLLS VLSPNPLVLI GHFFAVAIYA VYFCFKSEPW ITKPRALLSS 550
GAVLYKACSV IFPLIYSEMK YMVH 574
Length:574
Mass (Da):63,923
Last modified:May 18, 2010 - v3
Checksum:i6957F5CF1F1624C8
GO

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti43 – 431S → F in BX647400. 1 Publication
Sequence conflicti58 – 581Q → R in BAA22372. 1 Publication
Sequence conflicti94 – 941E → G in BAA22372. 1 Publication
Sequence conflicti139 – 1391A → V in BAA22372. 1 Publication
Sequence conflicti247 – 2471E → G in BAA11209. 1 Publication
Sequence conflicti334 – 3341I → T in BX647400. 1 Publication
Sequence conflicti336 – 3361Q → R in BAA22372. 1 Publication
Sequence conflicti379 – 3802AT → VA in BX647400. 1 Publication
Sequence conflicti389 – 3891P → L in BAA22372. 1 Publication
Sequence conflicti451 – 4511K → N in BAA22372. 1 Publication
Sequence conflicti518 – 5181V → A in BAA22372. 1 Publication
Sequence conflicti551 – 5511G → S in BAA22372. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D78130 mRNA. Translation: BAA22372.1.
BX647400 mRNA. No translation available.
AC009908 Genomic DNA. No translation available.
FJ695197 Genomic DNA. No translation available.
D78129 mRNA. Translation: BAA11209.1.
CCDSiCCDS47918.1.
RefSeqiNP_003120.2. NM_003129.3.
UniGeneiHs.71465.

Genome annotation databases

EnsembliENST00000265896; ENSP00000265896; ENSG00000104549.
GeneIDi6713.
KEGGihsa:6713.
UCSCiuc011liq.2. human.

Polymorphism databases

DMDMi296439362.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D78130 mRNA. Translation: BAA22372.1 .
BX647400 mRNA. No translation available.
AC009908 Genomic DNA. No translation available.
FJ695197 Genomic DNA. No translation available.
D78129 mRNA. Translation: BAA11209.1 .
CCDSi CCDS47918.1.
RefSeqi NP_003120.2. NM_003129.3.
UniGenei Hs.71465.

3D structure databases

ProteinModelPortali Q14534.
SMRi Q14534. Positions 116-182.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112591. 5 interactions.
IntActi Q14534. 3 interactions.
STRINGi 9606.ENSP00000265896.

Chemistry

ChEMBLi CHEMBL3592.
DrugBanki DB01091. Butenafine.
DB00735. Naftifine.
DB00857. Terbinafine.

PTM databases

PhosphoSitei Q14534.

Polymorphism databases

DMDMi 296439362.

Proteomic databases

MaxQBi Q14534.
PaxDbi Q14534.
PRIDEi Q14534.

Protocols and materials databases

DNASUi 6713.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000265896 ; ENSP00000265896 ; ENSG00000104549 .
GeneIDi 6713.
KEGGi hsa:6713.
UCSCi uc011liq.2. human.

Organism-specific databases

CTDi 6713.
GeneCardsi GC08P126010.
H-InvDB HIX0007779.
HGNCi HGNC:11279. SQLE.
HPAi HPA018038.
HPA020762.
MIMi 602019. gene.
neXtProti NX_Q14534.
PharmGKBi PA36108.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0654.
HOGENOMi HOG000174713.
HOVERGENi HBG005603.
InParanoidi Q14534.
KOi K00511.
OMAi FITLANR.
OrthoDBi EOG7J446G.
PhylomeDBi Q14534.
TreeFami TF331056.

Enzyme and pathway databases

UniPathwayi UPA00767 ; UER00752 .
BioCyci MetaCyc:HS02595-MONOMER.
Reactomei REACT_147904. Activation of gene expression by SREBF (SREBP).
REACT_9405. Cholesterol biosynthesis.
SABIO-RK Q14534.

Miscellaneous databases

GeneWikii Squalene_monooxygenase.
GenomeRNAii 6713.
NextBioi 26182.
PROi Q14534.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q14534.
Bgeei Q14534.
CleanExi HS_SQLE.
Genevestigatori Q14534.

Family and domain databases

InterProi IPR001327. Pyr_OxRdtase_NAD-bd_dom.
IPR003042. Rng_hydrolase-like.
IPR013698. Squalene_epoxidase.
[Graphical view ]
Pfami PF00070. Pyr_redox. 1 hit.
PF08491. SE. 1 hit.
[Graphical view ]
PRINTSi PR00420. RNGMNOXGNASE.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Localization of the squalene epoxidase gene (SQLE) to human chromosome region 8q24.1."
    Nagai M., Sakakibara J., Wakui K., Fukushima Y., Igarashi S., Tsuji S., Arakawa M., Ono T.
    Genomics 44:141-143(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Colon endothelium.
  3. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Transcriptional regulation of squalene epoxidase by sterols and inhibitors in HeLa cells."
    Nakamura Y., Sakakibara J., Izumi T., Shibata A., Ono T.
    J. Biol. Chem. 271:8053-8056(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 187-535.
    Tissue: Liver.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiERG1_HUMAN
AccessioniPrimary (citable) accession number: Q14534
Secondary accession number(s): Q9UEK6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 18, 2010
Last modified: September 3, 2014
This is version 123 of the entry and version 3 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 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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