Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains a set of putative metal binding motifs with similarity to that seen in a family of membrane desaturases-hydroxylases. The protein is localized to the endoplasmic reticulum membrane and is believed to function in cholesterol biosynthesis. Alternatively spliced trans... See more...

Aliases for MSMO1 Gene

Aliases for MSMO1 Gene

  • Methylsterol Monooxygenase 1 2 3 4 5
  • DESP4 2 3 4
  • ERG25 2 3 4
  • C-4 Methylsterol Oxidase 3 4
  • Sterol-C4-Methyl Oxidase 3 4
  • SC4MOL 3 4
  • Sterol-C4-Methyl Oxidase-Like 2
  • EC 1.14.18.9 4
  • MCCPD 3
  • MSMO1 5

External Ids for MSMO1 Gene

Previous HGNC Symbols for MSMO1 Gene

  • SC4MOL

Previous GeneCards Identifiers for MSMO1 Gene

  • GC04P166249

Summaries for MSMO1 Gene

Entrez Gene Summary for MSMO1 Gene

  • Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains a set of putative metal binding motifs with similarity to that seen in a family of membrane desaturases-hydroxylases. The protein is localized to the endoplasmic reticulum membrane and is believed to function in cholesterol biosynthesis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for MSMO1 Gene

MSMO1 (Methylsterol Monooxygenase 1) is a Protein Coding gene. Diseases associated with MSMO1 include Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis and Dermatitis. Among its related pathways are cholesterol biosynthesis III (via desmosterol) and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and C-4 methylsterol oxidase activity. An important paralog of this gene is CH25H.

UniProtKB/Swiss-Prot Summary for MSMO1 Gene

  • Catalyzes the three-step monooxygenation required for the demethylation of 4,4-dimethyl and 4alpha-methylsterols, which can be subsequently metabolized to cholesterol (PubMed:21285510, PubMed:28673550, PubMed:23583456, PubMed:26114596). Also involved in drug metabolism, as it can metabolize eldecalcitol (ED-71 or 1alpha,25-dihydroxy-2beta-(3-hydroxypropoxy)-cholecalciferol), a second-generation vitamin D analog, into 1alpha,2beta,25-trihydroxy vitamin D3; this reaction occurs via enzymatic hydroxylation and spontaneous O-dehydroxypropylation (PubMed:26038696).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MSMO1 Gene

Genomics for MSMO1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MSMO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J165323 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +0.5 474 10.1 BRCA1 SP1 CREB1 GATAD2A HNRNPL REST TFE3 RFX1 SOX13 IKZF1 MSMO1 lnc-GK3P-6 KLHL2 TMEM192 NACA3P MIR578 RPL21P51 CPE LOC105377519
GH04J165251 Enhancer 0.9 Ensembl ENCODE 11.4 -69.6 -69565 12.6 IKZF2 CEBPA SOX13 ARID3A TCF7 PAX8 DPF2 NFE2 ZNF316 MAFG KLHL2 TMEM192 MSMO1 L13713-173 RNU4-87P RF00015-056 piR-55194-282
GH04J165132 Enhancer 0.8 Ensembl ENCODE 11.5 -194.7 -194665 3.6 CTCF JUND ZNF143 REST RAD21 TRIM22 PKNOX1 ZNF316 SMC3 MAFG KLHL2 TMEM192 MSMO1 MIR578 piR-38920-014 piR-35674-402 TRIM60
GH04J165359 Enhancer 0.7 Ensembl 11.1 +32.1 32134 5.6 IKZF1 JUND EP300 ZNF766 ZXDB CEBPB ZNF316 JUN MAFF MAFK CPE MIR578 MSMO1 LOC105377519
GH04J165355 Enhancer 0.7 Ensembl 11.2 +28.5 28535 0.8 GATAD2A CTCF PKNOX1 RXRB REST CEBPA RAD21 CEBPB CREB1 SMC3 MIR578 MSMO1 CPE KLHL2 LOC105377519
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MSMO1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MSMO1

Genomic Locations for MSMO1 Gene

Genomic Locations for MSMO1 Gene
chr4:165,327,666-165,343,164
(GRCh38/hg38)
Size:
15,499 bases
Orientation:
Plus strand
chr4:166,248,775-166,264,312
(GRCh37/hg19)
Size:
15,538 bases
Orientation:
Plus strand

Genomic View for MSMO1 Gene

Genes around MSMO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MSMO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MSMO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MSMO1 Gene

Proteins for MSMO1 Gene

  • Protein details for MSMO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15800-MSMO1_HUMAN
    Recommended name:
    Methylsterol monooxygenase 1
    Protein Accession:
    Q15800
    Secondary Accessions:
    • A8K8Q3
    • A8MYF6
    • D3DP32
    • Q32Q24

    Protein attributes for MSMO1 Gene

    Size:
    293 amino acids
    Molecular mass:
    35216 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MSMO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MSMO1 Gene

Post-translational modifications for MSMO1 Gene

  • Ubiquitination at Lys87 and Lys284
  • Modification sites at PhosphoSitePlus

Other Protein References for MSMO1 Gene

No data available for DME Specific Peptides for MSMO1 Gene

Domains & Families for MSMO1 Gene

Gene Families for MSMO1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for MSMO1 Gene

InterPro:
Blocks:
  • Sterol desaturase
ProtoNet:

Suggested Antigen Peptide Sequences for MSMO1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50771, highly similar to C-4 methylsterol oxidase (EC 1.14.13.72) (A8MYF6_HUMAN)
  • Methylsterol monooxygenase (ERG25_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15800

UniProtKB/Swiss-Prot:

MSMO1_HUMAN :
  • The histidine box domains may contain the active site and/or be involved in metal ion binding.
  • Belongs to the sterol desaturase family.
Domain:
  • The histidine box domains may contain the active site and/or be involved in metal ion binding.
Family:
  • Belongs to the sterol desaturase family.
genes like me logo Genes that share domains with MSMO1: view

Function for MSMO1 Gene

Molecular function for MSMO1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the three-step monooxygenation required for the demethylation of 4,4-dimethyl and 4alpha-methylsterols, which can be subsequently metabolized to cholesterol (PubMed:21285510, PubMed:28673550, PubMed:23583456, PubMed:26114596). Also involved in drug metabolism, as it can metabolize eldecalcitol (ED-71 or 1alpha,25-dihydroxy-2beta-(3-hydroxypropoxy)-cholecalciferol), a second-generation vitamin D analog, into 1alpha,2beta,25-trihydroxy vitamin D3; this reaction occurs via enzymatic hydroxylation and spontaneous O-dehydroxypropylation (PubMed:26038696).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4,4-dimethyl-5alpha-cholest-7-en-3beta-ol + 6 [Fe(II)-cytochrome b5] + 5 H(+) + 3 O2 = 4alpha-carboxy-4beta-methyl-5alpha-cholest-7-ene-3beta-ol + 6 [Fe(III)-cytochrome b5] + 4 H2O; Xref=Rhea:RHEA:55220, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16455, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:58387; EC=1.14.18.9; Evidence={ECO:0000250|UniProtKB:O35532};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol + 6 [Fe(II)-cytochrome b5] + 5 H(+) + 3 O2 = 4alpha-carboxyl-4beta-methyl-5alpha-cholesta-8,24-dien-3beta-ol + 6 [Fe(III)-cytochrome b5] + 4 H2O; Xref=Rhea:RHEA:55244, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:18364, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:64925; Evidence={ECO:0000269|PubMed:21285510, ECO:0000269|PubMed:28673550, ECO:0000305|PubMed:26114596};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4alpha-methyl-5alpha-cholesta-8,24-dien-3beta-ol + 6 [Fe(II)-cytochrome b5] + 5 H(+) + 3 O2 = 4alpha-carboxy-5alpha-cholesta-8,24-dien-3beta-ol + 6 [Fe(III)-cytochrome b5] + 4 H2O; Xref=Rhea:RHEA:47056, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:1949, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:143575; Evidence={ECO:0000305|PubMed:21285510, ECO:0000305|PubMed:26114596, ECO:0000305|PubMed:28673550};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4alpha-methyl-5alpha-cholest-7-en-3beta-ol + 6 [Fe(II)-cytochrome b5] + 5 H(+) + 3 O2 = 4alpha-carboxy-5alpha-cholest-7-en-3beta-ol + 6 [Fe(III)-cytochrome b5] + 4 H2O; Xref=Rhea:RHEA:62768, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:18378, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:145943; Evidence={ECO:0000269|PubMed:21285510, ECO:0000269|PubMed:28673550};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4,4-dimethyl-5alpha-cholest-8-en-3beta-ol + 6 [Fe(II)-cytochrome b5] + 5 H(+) + 3 O2 = 4alpha-carboxy-4beta-methyl-5alpha-cholest-8-en-3beta-ol + 6 [Fe(III)-cytochrome b5] + 4 H2O; Xref=Rhea:RHEA:62776, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:87044, ChEBI:CHEBI:87047; Evidence={ECO:0000269|PubMed:21285510, ECO:0000269|PubMed:28673550};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4alpha-methyl-5alpha-cholest-8-en-3beta-ol + 6 [Fe(II)-cytochrome b5] + 5 H(+) + 3 O2 = 4alpha-carboxy-5alpha-cholest-8-ene-3beta-ol + 6 [Fe(III)-cytochrome b5] + 4 H2O; Xref=Rhea:RHEA:62780, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:87051, ChEBI:CHEBI:87055; Evidence={ECO:0000269|PubMed:21285510, ECO:0000269|PubMed:28673550};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1alpha,25-dihydroxy-2beta-(3-hydroxypropoxy)-cholecalciferol + 2 [Fe(II)-cytochrome b5] + 2 H(+) + O2 = 1alpha,25-dihydroxy-2beta-(1,3-dihydroxypropoxy)-cholecalciferol + 2 [Fe(III)-cytochrome b5] + H2O; Xref=Rhea:RHEA:62820, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:73927, ChEBI:CHEBI:146141; Evidence={ECO:0000269|PubMed:26038696};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=19.5 uM for 1alpha,25-dihydroxy-2beta-(3-hydroxypropoxy)-cholecalciferol {ECO:0000269|PubMed:26038696}; Vmax=19 pmol/min/mg enzyme with 1alpha,25-dihydroxy-2beta-(3-hydroxypropoxy)-cholecalciferol as substrate {ECO:0000269|PubMed:26038696};

Enzyme Numbers (IUBMB) for MSMO1 Gene

Phenotypes From GWAS Catalog for MSMO1 Gene

Gene Ontology (GO) - Molecular Function for MSMO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000254 C-4 methylsterol oxidase activity TAS --
GO:0005506 iron ion binding IEA --
GO:0016491 oxidoreductase activity IEA,IBA 21873635
genes like me logo Genes that share ontologies with MSMO1: view
genes like me logo Genes that share phenotypes with MSMO1: view

Human Phenotype Ontology for MSMO1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for MSMO1

CRISPR Products

miRNA for MSMO1 Gene

miRTarBase miRNAs that target MSMO1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MSMO1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for MSMO1 Gene

Localization for MSMO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MSMO1 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MSMO1 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 4
extracellular 2
mitochondrion 2
nucleus 2
cytosol 2
golgi apparatus 2
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MSMO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum TAS 8663358
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane TAS 8663358
GO:0016020 membrane IEA,IBA 21873635
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MSMO1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MSMO1 Gene

Pathways & Interactions for MSMO1 Gene

genes like me logo Genes that share pathways with MSMO1: view

UniProtKB/Swiss-Prot Q15800-MSMO1_HUMAN

  • Pathway: Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 3/6.
  • Pathway: Steroid biosynthesis; cholesterol biosynthesis.

Gene Ontology (GO) - Biological Process for MSMO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process TAS 8663358
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process TAS --
GO:0008202 steroid metabolic process TAS 8663358
genes like me logo Genes that share ontologies with MSMO1: view

No data available for SIGNOR curated interactions for MSMO1 Gene

Drugs & Compounds for MSMO1 Gene

(9) Drugs for MSMO1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Iron Approved, Experimental Pharma 1560
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0

(10) Additional Compounds for MSMO1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-beta-Hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carbaldehyde
3-beta-Hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylate
  • 3-beta-Hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylic acid
  • 3b-Hydroxy-4b-methyl-5a-cholest-7-ene-4a-carboxylic acid
  • 3beta-Hydroxy-4beta-methyl-5alpha-cholest-7-ene-4alpha-carboxylate
  • b-Hydroxy-4b-methyl-5a-cholest-7-ene-4a-carboxylate
  • beta-Hydroxy-4b-methyl-5a-cholest-7-ene-4a-carboxylate
4,4-Dimethyl-5a-cholesta-8,24-dien-3-b-ol
  • (3beta,5alpha)-4,4-Dimethylcholesta-8,24-dien-3-ol
  • 14-Demethyllanosterol
  • 4,4-Dimethyl-5 alpha -cholesta-8,24-dien-3 beta -ol
  • 4,4-Dimethyl-5-alpha-cholesta-(8,24)-dien-3-beta-ol
  • 4,4-Dimethyl-5-alpha-cholesta-8,24-dien-3-beta-ol
7448-02-4
4,4-Dimethyl-5-alpha-cholest-7-en-3-beta-ol
  • 4,4-Dimethyl-5 alpha-cholest-7-ene-3 beta-ol
4a-Carboxy-4b-methyl-5a-cholesta-8,24-dien-3b-ol
  • 4alpha-Carboxy-4beta-methyl-5alpha-cholesta-8,24-dien-3beta-ol
  • 4α-carboxy-4β-methyl-5α-cholesta-8,24-dien-3β-ol
genes like me logo Genes that share compounds with MSMO1: view

Transcripts for MSMO1 Gene

mRNA/cDNA for MSMO1 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MSMO1

Alternative Splicing Database (ASD) splice patterns (SP) for MSMO1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c
SP1: - - - - -
SP2: - - - - - -
SP3: - - -
SP4: - - -
SP5:
SP6:

Relevant External Links for MSMO1 Gene

GeneLoc Exon Structure for
MSMO1

Expression for MSMO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MSMO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MSMO1 Gene

This gene is overexpressed in Liver (x7.0).

Protein differential expression in normal tissues from HIPED for MSMO1 Gene

This gene is overexpressed in Fetal ovary (20.0), Bone (16.5), and Fetal testis (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MSMO1 Gene



Protein tissue co-expression partners for MSMO1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MSMO1

SOURCE GeneReport for Unigene cluster for MSMO1 Gene:

Hs.105269

Evidence on tissue expression from TISSUES for MSMO1 Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Intestine(4.4)
  • Eye(4.3)
  • Skin(2.6)
  • Blood(2.4)
  • Lung(2.3)
  • Adrenal gland(2.3)
  • Kidney(2.2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with MSMO1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MSMO1 Gene

Orthologs for MSMO1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MSMO1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MSMO1 30 31
  • 99.66 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SC4MOL 31
  • 96 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia SC4MOL 31
  • 95 (a)
OneToOne
MSMO1 30
  • 92.38 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MSMO1 31
  • 87 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Msmo1 30
  • 83.28 (n)
Oppossum
(Monodelphis domestica)
Mammalia MSMO1 31
  • 83 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Sc4mol 30 31
  • 82.94 (n)
OneToOne
Msmo1 17
Chicken
(Gallus gallus)
Aves MSMO1 30 31
  • 76.89 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MSMO1 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia msmo1 30
  • 73.95 (n)
Zebrafish
(Danio rerio)
Actinopterygii msmo1 30 31
  • 72.03 (n)
OneToOne
wufb59g06 30
Worm
(Caenorhabditis elegans)
Secernentea F49E12.10 31
  • 24 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG25 31 33
  • 35 (a)
OneToMany
Species where no ortholog for MSMO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MSMO1 Gene

ENSEMBL:
Gene Tree for MSMO1 (if available)
TreeFam:
Gene Tree for MSMO1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MSMO1: view image

Paralogs for MSMO1 Gene

Paralogs for MSMO1 Gene

Pseudogenes.org Pseudogenes for MSMO1 Gene

genes like me logo Genes that share paralogs with MSMO1: view

Variants for MSMO1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MSMO1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
728211 Likely Benign: not provided 165,337,836(+) T/C SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
728609 Benign: not provided 165,337,909(+) C/G MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
731275 Likely Benign: not provided 165,340,299(+) G/A MISSENSE_VARIANT
742157 Benign: not provided 165,337,829(+) A/G MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
783431 Benign: not provided 165,337,904(+) A/G MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for MSMO1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MSMO1 Gene

Variant ID Type Subtype PubMed ID
nsv289926 CNV deletion 16902084

Variation tolerance for MSMO1 Gene

Residual Variation Intolerance Score: 70.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.82; 47.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MSMO1 Gene

Human Gene Mutation Database (HGMD)
MSMO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MSMO1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MSMO1 Gene

Disorders for MSMO1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for MSMO1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MSMO1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MSMO1_HUMAN
  • Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) [MIM:616834]: An 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. {ECO:0000269 PubMed:21285510, ECO:0000269 PubMed:24144731}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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No data available for Genatlas for MSMO1 Gene

Publications for MSMO1 Gene

  1. Characterization of yeast methyl sterol oxidase (ERG25) and identification of a human homologue. (PMID: 8663358) Li L … Kaplan J (The Journal of biological chemistry 1996) 2 3 4 23
  2. The role of sterol-C4-methyl oxidase in epidermal biology. (PMID: 24144731) He M … Vockley J (Biochimica et biophysica acta 2014) 3 4
  3. Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. (PMID: 21285510) He M … Vockley J (The Journal of clinical investigation 2011) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for MSMO1 Gene

Sources for MSMO1 Gene