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    AGMO alkylglycerol monooxygenase [ Homo sapiens (human) ]

    Gene ID: 392636, updated on 2-Nov-2024

    Summary

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    Official Symbol
    AGMOprovided by HGNC
    Official Full Name
    alkylglycerol monooxygenaseprovided by HGNC
    Primary source
    HGNC:HGNC:33784
    See related
    Ensembl:ENSG00000187546 MIM:613738; AllianceGenome:HGNC:33784
    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
    TMEM195
    Summary
    The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012]
    Expression
    Biased expression in liver (RPKM 8.7), small intestine (RPKM 2.1) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AGMO in Genome Data Viewer
    Location:
    7p21.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (15117223..15562015, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (15250047..15695255, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (15239942..15601640, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene diacylglycerol kinase beta Neighboring gene uncharacterized LOC105375164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:14779612-14780128 Neighboring gene general transcription factor IIIA pseudogene 5 Neighboring gene uncharacterized LOC124901592 Neighboring gene Sharpr-MPRA regulatory region 14752 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:15557538-15558346 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:15586656-15587206 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:15587207-15587755 Neighboring gene uncharacterized LOC124901591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:15638304-15638834 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:15638835-15639363 Neighboring gene uncharacterized LOC105375166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:15724672-15725504 Neighboring gene long intergenic non-protein coding RNA 2587 Neighboring gene mesenchyme homeobox 2

    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. Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder. Okur V, et al. Hum Genet, 2019 Dec. PMID 31555905
    2. Exome Sequencing Identifies Two Variants of the Alkylglycerol Monooxygenase Gene as a Cause of Relapses in Visceral Leishmaniasis in Children, in Sudan. Marquet S, et al. J Infect Dis, 2017 Jul 1. PMID 28586473
    3. The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family. Alrayes N, et al. J Neurol Sci, 2016 Apr 15. PMID 27000257
    4. Catalytic residues and a predicted structure of tetrahydrobiopterin-dependent alkylglycerol mono-oxygenase. Watschinger K, et al. Biochem J, 2012 Apr 1. PMID 22220568, Free PMC Article
    5. Identification of the gene encoding alkylglycerol monooxygenase defines a third class of tetrahydrobiopterin-dependent enzymes. Watschinger K, et al. Proc Natl Acad Sci U S A, 2010 Aug 3. PMID 20643956, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.
      Title: Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.
    2. We identified homozygous and heterozygous mutations of the alkylglycerol monooxygenase (AGMO) gene (MIM 613738) as the likely cause of visceral leishmaniasis relapse in 3 families.
      Title: Exome Sequencing Identifies Two Variants of the Alkylglycerol Monooxygenase Gene as a Cause of Relapses in Visceral Leishmaniasis in Children, in Sudan.
    3. An AGMO mutation was found in a Saudi family underlying primary microcephaly and intellectual disability.
      Title: The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family.
    4. Among all of the acidic residues within the eight-histidine motif, only mutation of Glu137 to alanine led to an 18-fold increase in the Michaelis-Menten constant for tetrahydrobiopterin, suggesting a role in tetrahydrobiopterin interaction
      Title: Catalytic residues and a predicted structure of tetrahydrobiopterin-dependent alkylglycerol mono-oxygenase.
    5. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association study to identify genetic variants present in Japanese patients harboring intracranial aneurysms.
    6. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
    7. Transmembrane protein 195 has tetrahydrobiopterin-dependent alkylglycerol monooxygenase activity (also known as glyceryl-ether monooxygenase activity, E.C. 1.14.16.5).
      Title: Identification of the gene encoding alkylglycerol monooxygenase defines a third class of tetrahydrobiopterin-dependent enzymes.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Variants at DGKB/TMEM195, ADRA2A, GLIS3 and C2CD4B loci are associated with reduced glucose-stimulated beta cell function in middle-aged Danish people.
    9. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
    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

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    • FLJ16237, MGC131748

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glyceryl-ether monooxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glyceryl-ether monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glyceryl-ether monooxygenase activity TAS
    Traceable Author Statement
    more info
    		  
    enables iron ion binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ether lipid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in membrane lipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in membrane lipid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in triglyceride biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    alkylglycerol monooxygenase
    Names
    glyceryl-ether monooxygenase
    transmembrane protein 195
    NP_001004320.1
    XP_006715793.1
    XP_006715794.1
    XP_011513704.1
    XP_016867693.1
    XP_047276320.1
    XP_054214175.1
    XP_054214176.1
    XP_054214177.1
    XP_054214178.1
    XP_054214179.1

    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.

    mRNA and Protein(s)

    1. NM_001004320.2 → NP_001004320.1  alkylglycerol monooxygenase

      See identical proteins and their annotated locations for NP_001004320.1

      Status: REVIEWED

      Source sequence(s)
      AC091789, AK131284
      Consensus CDS
      CCDS34604.1
      UniProtKB/Swiss-Prot
      A4D114, A6NCH5, Q6ZNB7
      UniProtKB/TrEMBL
      X5D773
      Related
      ENSP00000341662.3, ENST00000342526.8
      Conserved Domains (2) summary
      COG3000
      Location:43 → 255
      ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]
      pfam04116
      Location:120 → 249
      FA_hydroxylase; Fatty acid hydroxylase superfamily

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      15117223..15562015 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012204.2 → XP_016867693.1  alkylglycerol monooxygenase isoform X4

    2. XM_011515402.4 → XP_011513704.1  alkylglycerol monooxygenase isoform X3

      Conserved Domains (2) summary
      COG3000
      Location:43 → 255
      ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]
      pfam04116
      Location:120 → 249
      FA_hydroxylase; Fatty acid hydroxylase superfamily

    3. XM_006715731.3 → XP_006715794.1  alkylglycerol monooxygenase isoform X5

      Conserved Domains (2) summary
      COG3000
      Location:43 → 255
      ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]
      pfam04116
      Location:120 → 249
      FA_hydroxylase; Fatty acid hydroxylase superfamily

    4. XM_006715730.1 → XP_006715793.1  alkylglycerol monooxygenase isoform X2

      Conserved Domains (2) summary
      COG3000
      Location:43 → 255
      ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]
      pfam04116
      Location:120 → 249
      FA_hydroxylase; Fatty acid hydroxylase superfamily

    5. XM_047420364.1 → XP_047276320.1  alkylglycerol monooxygenase isoform X1

    RNA

    1. XR_001744759.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      15250047..15695255 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358203.1 → XP_054214178.1  alkylglycerol monooxygenase isoform X4

    2. XM_054358202.1 → XP_054214177.1  alkylglycerol monooxygenase isoform X3

    3. XM_054358204.1 → XP_054214179.1  alkylglycerol monooxygenase isoform X5

    4. XM_054358201.1 → XP_054214176.1  alkylglycerol monooxygenase isoform X2

    5. XM_054358200.1 → XP_054214175.1  alkylglycerol monooxygenase isoform X1

    RNA

    1. XR_008487615.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZNB7.1 GenPept UniProtKB/Swiss-Prot:Q6ZNB7

    Gene LinkOut

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