AGMO

Protein identityUniProt · HPA

UniProt accession

Q6ZNB7

Gene

AGMO

Ensembl

ENSG00000187546

Chromosome

7

Canonical length

445 aa

Protein class

Enzymes, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Vesicles

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

445 residues, UniProt reviewed canonical sequence.

>Q6ZNB7|AGMO
     1  MKNPEAQQDV SVSQGFRMLF YTMKPSETSF QTLEEVPDYV KKATPFFISL MLLELVVSWI
    61  LKGKPPGRLD DALTSISAGV LSRLPSLFFR SIELTSYIYI WENYRLFNLP WDSPWTWYSA
   121  FLGVDFGYYW FHRMAHEVNI MWAGHQTHHS SEDYNLSTAL RQSVLQIYTS WIFYSPLALF
   181  IPPSVYAVHL QFNLLYQFWI HTEVINNLGP LELILNTPSH HRVHHGRNRY CIDKNYAGVL
   241  IIWDKIFGTF EAENEKVVYG LTHPINTFEP IKVQFHHLFS IWTTFWATPG FFNKFSVIFK
   301  GPGWGPGKPR LGLSEEIPEV TGKEVPFSSS SSQLLKIYTV VQFALMLAFY EETFADTAAL
   361  SQVTLLLRVC FIILTLTSIG FLLDQRPKAA IMETLRCLMF LMLYRFGHLK PLVPSLSSAF
   421  EIVFSICIAF WGVRSMKQLT SHPWK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AGMO can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

5

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

114 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AGMO.

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 164 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• AGMO-related Neurodevelopmental disorder
• See cases
• Hypercholesterolemia, familial, 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.71

gnomAD pLI

0

gnomAD missense Z

-2.56

DepMap mean gene effect

0.09

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• ether lipid metabolic process
• membrane lipid metabolic process
• triglyceride biosynthetic process

Molecular functions

• iron ion binding
• glyceryl-ether monooxygenase activity

Cellular components

• endoplasmic reticulum
• endoplasmic reticulum membrane

Protein domainsUniProt · Pfam · InterPro

• Fatty acid hydroxylase
• Fatty acid hydroxylase
• Sterol desaturase/TMEM195-like
• Alkylglycerol monooxygenase, C-terminal
• Alkylglycerol monooxygenase C-terminal domain

KeywordsUniProt

• Endoplasmic reticulum
• Iron
• Lipid metabolism
• Membrane
• Oxidoreductase
• Transmembrane
• Transmembrane helix