apoptosis inducing factor mitochondria associated 1

Summary
Gene Symbol
  • AIFM1
Organism
Homo sapiens (human)
NCBI Gene
9131
PubChem
9131
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Apoptosis
  • Charcot-Marie-Tooth disease
  • Cytoplasm
  • DNA-binding
  • Deafness
  • Direct protein sequencing
  • Disease variant
  • Dwarfism
  • FAD
  • Intellectual disability
  • Isopeptide bond
  • Mitochondrion inner membrane
  • NAD
  • Neurodegeneration
  • Nucleus
  • Oxidoreductase
  • Phosphoprotein
  • Primary mitochondrial disease
  • Proteomics identification
  • Reference proteome
  • Transit peptide
  • Ubl conjugation
Proteins
Displaying all 2 entries
UniProt Protein Name
O95831
  • Programmed cell death protein 8
E9PMA0
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Apoptosis-inducing factor
Functional Category
  • E: Amino acid transport and metabolism
  • G: Carbohydrate transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
Disease
Disease Ontology
Displaying all 10 entries
DO ID Disease Name Source
DOID:0060536 mitochondrial complex I deficiency
DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4
DOID:0110429 dilated cardiomyopathy 1H
DOID:0111502 combined oxidative phosphorylation deficiency 6
DOID:0111741 X-linked deafness 5
DOID:10584 retinitis pigmentosa
DOID:10652 Alzheimer's disease
DOID:224 transient cerebral ischemia
DOID:3525 middle cerebral artery infarction
DOID:5327 retinal detachment

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024