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Protein

Methylsterol monooxygenase 1

Gene

MSMO1

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

Functioni

Catalyzes the first step in the removal of the two C-4 methyl groups of 4,4-dimethylzymosterol.By similarity

Catalytic activityi

4,4-dimethyl-5-alpha-cholest-7-en-3-beta-ol + 6 ferrocytochrome b5 + 3 O2 + 6 H+ = 3-beta-hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylate + 6 ferricytochrome b5 + 4 H2O.By similarity

Cofactori

Fe cationBy similarity

Pathwayi: zymosterol biosynthesis

This protein is involved in step 3 of the subpathway that synthesizes zymosterol from lanosterol.
Proteins known to be involved in the 6 steps of the subpathway in this organism are:
  1. Lanosterol 14-alpha demethylase (CYP51A1)
  2. no protein annotated in this organism
  3. Methylsterol monooxygenase 1 (MSMO1)
  4. Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating (NSDHL)
  5. 3-keto-steroid reductase (HSD17B7)
  6. no protein annotated in this organism
This subpathway is part of the pathway zymosterol biosynthesis, which is itself part of Steroid biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes zymosterol from lanosterol, the pathway zymosterol biosynthesis and in Steroid biosynthesis.

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

BioCyciMetaCyc:HS00650-MONOMER
BRENDAi1.14.13.72 2681
ReactomeiR-HSA-191273 Cholesterol biosynthesis
UniPathwayi
UPA00770;UER00756

Chemistry databases

SwissLipidsiSLP:000001244

Names & Taxonomyi

Protein namesi
Recommended name:
Methylsterol monooxygenase 1 (EC:1.14.18.9By similarity)
Alternative name(s):
C-4 methylsterol oxidase
Gene namesi
Name:MSMO1
Synonyms:DESP4, ERG25, SC4MOL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000052802.12
HGNCiHGNC:10545 MSMO1
MIMi607545 gene
neXtProtiNX_Q15800

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
Transmembranei55 – 75HelicalSequence analysisAdd BLAST21
Transmembranei100 – 120HelicalSequence analysisAdd BLAST21
Transmembranei199 – 219HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive inborn error of cholesterol metabolism characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected individuals. Patients manifest psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay.
See also OMIM:616834
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076531115G → R in MCCPD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1310714454Ensembl.1
Natural variantiVAR_076532173H → Q in MCCPD. 1 PublicationCorresponds to variant dbSNP:rs869025576EnsemblClinVar.1
Natural variantiVAR_076533244Y → C in MCCPD. 1 PublicationCorresponds to variant dbSNP:rs760048191EnsemblClinVar.1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNETi6307
MalaCardsiMSMO1
MIMi616834 phenotype
OpenTargetsiENSG00000052802
PharmGKBiPA34955

Chemistry databases

DrugBankiDB00157 NADH

Polymorphism and mutation databases

BioMutaiMSMO1
DMDMi2498340

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001170331 – 293Methylsterol monooxygenase 1Add BLAST293

Proteomic databases

EPDiQ15800
MaxQBiQ15800
PaxDbiQ15800
PeptideAtlasiQ15800
PRIDEiQ15800
ProteomicsDBi60767

PTM databases

iPTMnetiQ15800
PhosphoSitePlusiQ15800
SwissPalmiQ15800

Expressioni

Gene expression databases

BgeeiENSG00000052802 Expressed in 235 organ(s), highest expression level in metanephros
CleanExiHS_SC4MOL
ExpressionAtlasiQ15800 baseline and differential
GenevisibleiQ15800 HS

Organism-specific databases

HPAiHPA056127

Interactioni

Protein-protein interaction databases

BioGridi112214, 12 interactors
IntActiQ15800, 11 interactors
STRINGi9606.ENSP00000261507

Structurei

3D structure databases

ProteinModelPortaliQ15800
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi157 – 161Histidine box-15
Motifi170 – 174Histidine box-25
Motifi249 – 255Histidine box-37

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

eggNOGiKOG0873 Eukaryota
COG3000 LUCA
GeneTreeiENSGT00530000063017
HOGENOMiHOG000162289
HOVERGENiHBG051504
InParanoidiQ15800
KOiK07750
OMAiWSGAEHH
OrthoDBiEOG091G0BM3
PhylomeDBiQ15800
TreeFamiTF354294

Family and domain databases

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

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q15800-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MATNESVSIF SSASLAVEYV DSLLPENPLQ EPFKNAWNYM LNNYTKFQIA
60 70 80 90 100
TWGSLIVHEA LYFLFCLPGF LFQFIPYMKK YKIQKDKPET WENQWKCFKV
110 120 130 140 150
LLFNHFCIQL PLICGTYYFT EYFNIPYDWE RMPRWYFLLA RCFGCAVIED
160 170 180 190 200
TWHYFLHRLL HHKRIYKYIH KVHHEFQAPF GMEAEYAHPL ETLILGTGFF
210 220 230 240 250
IGIVLLCDHV ILLWAWVTIR LLETIDVHSG YDIPLNPLNL IPFYAGSRHH
260 270 280 290
DFHHMNFIGN YASTFTWWDR IFGTDSQYNA YNEKRKKFEK KTE
Length:293
Mass (Da):35,216
Last modified:November 1, 1997 - v1
Checksum:iD88E0DDBE85DE0BF
GO
Isoform 2 (identifier: Q15800-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-131: Missing.

Show »
Length:162
Mass (Da):19,470
Checksum:iEFA578AF15EDB678
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6R952D6R952_HUMAN
Methylsterol monooxygenase 1
MSMO1
229Annotation score:
D6RDP9D6RDP9_HUMAN
Methylsterol monooxygenase 1
MSMO1
220Annotation score:
D6REA2D6REA2_HUMAN
Methylsterol monooxygenase 1
MSMO1
85Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076531115G → R in MCCPD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1310714454Ensembl.1
Natural variantiVAR_048898124N → S. Corresponds to variant dbSNP:rs34499452Ensembl.1
Natural variantiVAR_076532173H → Q in MCCPD. 1 PublicationCorresponds to variant dbSNP:rs869025576EnsemblClinVar.1
Natural variantiVAR_076533244Y → C in MCCPD. 1 PublicationCorresponds to variant dbSNP:rs760048191EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0445851 – 131Missing in isoform 2. 1 PublicationAdd BLAST131

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U60205 mRNA Translation: AAC50587.1
U93162 mRNA Translation: AAB81566.1
AK292418 mRNA Translation: BAF85107.1
AK295432 mRNA Translation: BAH12066.1
AC012504 Genomic DNA No translation available.
CH471056 Genomic DNA Translation: EAX04820.1
CH471056 Genomic DNA Translation: EAX04821.1
BC010653 mRNA Translation: AAH10653.1
BC107879 mRNA Translation: AAI07880.1
CCDSiCCDS3809.1 [Q15800-1]
CCDS43280.1 [Q15800-2]
RefSeqiNP_001017369.1, NM_001017369.2 [Q15800-2]
NP_006736.1, NM_006745.4 [Q15800-1]
XP_005263233.1, XM_005263176.2 [Q15800-1]
UniGeneiHs.105269

Genome annotation databases

EnsembliENST00000261507; ENSP00000261507; ENSG00000052802 [Q15800-1]
ENST00000393766; ENSP00000377361; ENSG00000052802 [Q15800-2]
GeneIDi6307
KEGGihsa:6307
UCSCiuc003ire.4 human [Q15800-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U60205 mRNA Translation: AAC50587.1
U93162 mRNA Translation: AAB81566.1
AK292418 mRNA Translation: BAF85107.1
AK295432 mRNA Translation: BAH12066.1
AC012504 Genomic DNA No translation available.
CH471056 Genomic DNA Translation: EAX04820.1
CH471056 Genomic DNA Translation: EAX04821.1
BC010653 mRNA Translation: AAH10653.1
BC107879 mRNA Translation: AAI07880.1
CCDSiCCDS3809.1 [Q15800-1]
CCDS43280.1 [Q15800-2]
RefSeqiNP_001017369.1, NM_001017369.2 [Q15800-2]
NP_006736.1, NM_006745.4 [Q15800-1]
XP_005263233.1, XM_005263176.2 [Q15800-1]
UniGeneiHs.105269

3D structure databases

ProteinModelPortaliQ15800
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112214, 12 interactors
IntActiQ15800, 11 interactors
STRINGi9606.ENSP00000261507

Chemistry databases

DrugBankiDB00157 NADH
SwissLipidsiSLP:000001244

PTM databases

iPTMnetiQ15800
PhosphoSitePlusiQ15800
SwissPalmiQ15800

Polymorphism and mutation databases

BioMutaiMSMO1
DMDMi2498340

Proteomic databases

EPDiQ15800
MaxQBiQ15800
PaxDbiQ15800
PeptideAtlasiQ15800
PRIDEiQ15800
ProteomicsDBi60767

Protocols and materials databases

DNASUi6307
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261507; ENSP00000261507; ENSG00000052802 [Q15800-1]
ENST00000393766; ENSP00000377361; ENSG00000052802 [Q15800-2]
GeneIDi6307
KEGGihsa:6307
UCSCiuc003ire.4 human [Q15800-1]

Organism-specific databases

CTDi6307
DisGeNETi6307
EuPathDBiHostDB:ENSG00000052802.12
GeneCardsiMSMO1
HGNCiHGNC:10545 MSMO1
HPAiHPA056127
MalaCardsiMSMO1
MIMi607545 gene
616834 phenotype
neXtProtiNX_Q15800
OpenTargetsiENSG00000052802
PharmGKBiPA34955
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0873 Eukaryota
COG3000 LUCA
GeneTreeiENSGT00530000063017
HOGENOMiHOG000162289
HOVERGENiHBG051504
InParanoidiQ15800
KOiK07750
OMAiWSGAEHH
OrthoDBiEOG091G0BM3
PhylomeDBiQ15800
TreeFamiTF354294

Enzyme and pathway databases

UniPathwayi
UPA00770;UER00756

BioCyciMetaCyc:HS00650-MONOMER
BRENDAi1.14.13.72 2681
ReactomeiR-HSA-191273 Cholesterol biosynthesis

Miscellaneous databases

ChiTaRSiMSMO1 human
GenomeRNAii6307
PROiPR:Q15800
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000052802 Expressed in 235 organ(s), highest expression level in metanephros
CleanExiHS_SC4MOL
ExpressionAtlasiQ15800 baseline and differential
GenevisibleiQ15800 HS

Family and domain databases

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

Entry informationi

Entry nameiMSMO1_HUMAN
AccessioniPrimary (citable) accession number: Q15800
Secondary accession number(s): A8K8Q3
, A8MYF6, D3DP32, Q32Q24
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: October 10, 2018
This is version 164 of the entry and version 1 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 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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