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MSMO1 methylsterol monooxygenase 1 [ Homo sapiens (human) ]

Gene ID: 6307, updated on 20-Dec-2019

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
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

Genomic context

See MSMO1 in Genome Data Viewer
Location:
4q32.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (165327666..165343164)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (166248818..166264316)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene kelch like family member 2 Neighboring gene RNA, U4 small nuclear 87, pseudogene Neighboring gene glycerol kinase 3 pseudogene Neighboring gene uncharacterized LOC105377519 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, and psoriasiform dermatitis
MedGen: C4225189 OMIM: 616834 GeneReviews: Not available
Compare labs
Psoriasiform dermatitis
MedGen: C0262985 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC104344

Gene Ontology Provided by GOA

Function Evidence Code Pubs
C-4 methylsterol oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
C-4 methylsterol oxidase activity TAS
Traceable Author Statement
more info
 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
fatty acid metabolic process TAS
Traceable Author Statement
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
steroid metabolic process TAS
Traceable Author Statement
more info
PubMed 
sterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum TAS
Traceable Author Statement
more info
PubMed 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
methylsterol monooxygenase 1
Names
C-4 methylsterol oxidase
NP_001017369.1
NP_006736.1
XP_005263233.1

NCBI Reference Sequences (RefSeq)

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_001017369.2NP_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
    Q15800
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    165327666..165343164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263176.2XP_005263233.1  methylsterol monooxygenase 1 isoform X1

    See identical proteins and their annotated locations for XP_005263233.1

    UniProtKB/Swiss-Prot
    Q15800
    Conserved Domains (1) summary
    COG3000
    Location:60274
    ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]
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