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    MSMO1 methylsterol monooxygenase 1 [ Homo sapiens (human) ]

    Gene ID: 6307, updated on 3-Nov-2024

    Summary

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    Official Symbol
    MSMO1provided by HGNC
    Official Full Name
    methylsterol monooxygenase 1provided by HGNC
    Primary source
    HGNC:HGNC:10545
    See related
    Ensembl:ENSG00000052802 MIM:607545; AllianceGenome:HGNC:10545
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DESP4; ERG25; MCCPD; SC4MOL
    Summary
    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]
    Expression
    Broad expression in liver (RPKM 94.8), brain (RPKM 43.2) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MSMO1 in Genome Data Viewer
    Location:
    4q32.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (165327669..165343164)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (168673661..168689162)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (166248821..166264316)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene kelch like family member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:166201239-166201740 Neighboring gene U2 spliceosomal RNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22118 Neighboring gene glycerol kinase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22119 Neighboring gene Sharpr-MPRA regulatory region 3657 Neighboring gene uncharacterized LOC105377519 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:166272600-166273799 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15785 Neighboring gene NANOG hESC enhancer GRCh37_chr4:166301932-166302476 Neighboring gene microRNA 578 Neighboring gene carboxypeptidase E

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. He M, et al. J Clin Invest, 2011 Mar. PMID 21285510, Free PMC Article
    2. The role of sterol-C4-methyl oxidase in epidermal biology. He M, et al. Biochim Biophys Acta, 2014 Mar. PMID 24144731, Free PMC Article
    3. New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis. Kalay Yildizhan I, et al. Cytogenet Genome Res, 2020. PMID 33161406
    4. Characterization of yeast methyl sterol oxidase (ERG25) and identification of a human homologue. Li L, et al. J Biol Chem, 1996 Jul 12. PMID 8663358
    5. Cholesterol synthesis enzyme SC4MOL is fine-tuned by sterols and targeted for degradation by the E3 ligase MARCHF6. Qian L, et al. J Lipid Res, 2023 May. PMID 36958722, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis.
      Title: New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis.
    2. SC4MOL is situated within the psoriasis susceptibility locus PSORS9, and may be a genetic risk factor for common skin conditions. [review]
      Title: The role of sterol-C4-methyl oxidase in epidermal biology.
    3. variants in/near SC4MOL, were associated with FI and IR in this cohort of African Amer
      Title: Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans.
    4. human SC4MOL encodes a methyl sterol oxidase that may have a role in psoriasiform dermatitis, microcephaly, and developmental delay
      Title: Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
    MedGen: C5567510 OMIM: 616834 GeneReviews: Not available
    		Compare labs
    Psoriasiform dermatitis
    MedGen: C0262985 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC104344

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables C-4 methylsterol oxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables C-4 methylsterol oxidase activity TAS
    Traceable Author Statement
    more info
    		  
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cholesterol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cholesterol biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in fatty acid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in steroid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in sterol biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    methylsterol monooxygenase 1
    Names
    C-4 methylsterol oxidase
    sterol-C4-methyl oxidase
    NP_001017369.1
    NP_006736.1
    XP_005263233.1
    XP_054206679.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_042288.1 RefSeqGene

      Range
      5004..20499
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001017369.3 → NP_001017369.1  methylsterol monooxygenase 1 isoform 2

      See identical proteins and their annotated locations for NP_001017369.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' region, resulting in translation initiation from a downstream AUG codon, as compared to variant 1. The encoded isoform 2 has a shorter N-terminus, as compared to isoform 1.
      Source sequence(s)
      AK295432, BC010653, BU676028, BX441001
      Consensus CDS
      CCDS43280.1
      UniProtKB/Swiss-Prot
      Q15800
      Related
      ENSP00000377361.2, ENST00000393766.6
      Conserved Domains (1) summary
      COG3000
      Location:12 → 143
      ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]

    2. NM_006745.5 → NP_006736.1  methylsterol monooxygenase 1 isoform 1

      See identical proteins and their annotated locations for NP_006736.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC010653, BU676028, BX441001
      Consensus CDS
      CCDS3809.1
      UniProtKB/Swiss-Prot
      A8K8Q3, A8MYF6, D3DP32, Q15800, Q32Q24
      Related
      ENSP00000261507.6, ENST00000261507.11
      Conserved Domains (1) summary
      COG3000
      Location:60 → 274
      ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      165327669..165343164
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005263176.3 → XP_005263233.1  methylsterol monooxygenase 1 isoform X1

      See identical proteins and their annotated locations for XP_005263233.1

      UniProtKB/Swiss-Prot
      A8K8Q3, A8MYF6, D3DP32, Q15800, Q32Q24
      Conserved Domains (1) summary
      COG3000
      Location:60 → 274
      ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      168673661..168689162
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350704.1 → XP_054206679.1  methylsterol monooxygenase 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K8Q3, A8MYF6, D3DP32, Q15800, Q32Q24
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15800.1 GenPept UniProtKB/Swiss-Prot:Q15800

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