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MSMO1 methylsterol monooxygenase 1 [ Homo sapiens (human) ]

Gene ID: 6307, updated on 11-Apr-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
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Genomic context

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Location:
4q32.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (165327669..165343164)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (168673661..168689162)
105.20220307 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
  • 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. 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
  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. 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
  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. The Non Catalytic Protein ERG28 has a Functional Role in Cholesterol Synthesis and is Coregulated Transcriptionally. Capell-Hattam IM, et al. J Lipid Res, 2022 Dec. PMID 36216146, Free PMC Article

See all (33) 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 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_2023_10

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

Gene LinkOut

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