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AGMO alkylglycerol monooxygenase [ Homo sapiens (human) ]

Gene ID: 392636, updated on 25-Jan-2022

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
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Genomic context

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See AGMO in Genome Data Viewer
Location:
7p21.2
Exon count:
21
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (15117223..15562015, complement)
105.20201022 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 general transcription factor IIIA pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 14752 Neighboring gene uncharacterized LOC105375166 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
  • 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

See citations in PubMed for homologs of this gene provided by HomoloGene

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
 PubMed 
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
 PubMed 
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
 PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in integral component of membrane IEA
Inferred from Electronic Annotation
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

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
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017012204.1 → XP_016867693.1  alkylglycerol monooxygenase isoform X3

  2. XM_011515402.3 → XP_011513704.1  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

  3. XM_006715731.3 → XP_006715794.1  alkylglycerol monooxygenase isoform X4

    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 X1

    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

RNA

  1. XR_001744759.1 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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