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    MSMO1 methylsterol monooxygenase 1 [ Homo sapiens (human) ]

    Gene ID: 6307, updated on 27-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001017369.3NP_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:12143
      ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]
    2. NM_006745.5NP_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:60274
      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_005263176.3XP_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:60274
      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_054350704.1XP_054206679.1  methylsterol monooxygenase 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K8Q3, A8MYF6, D3DP32, Q15800, Q32Q24