atlastin GTPase 3

Summary
Gene Symbol
  • ATL3
Aliases
  • DKFZP564J0863
Organism
Homo sapiens (human)
NCBI Gene
25923
HGNC
24526
PubChem
25923
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Disease variant
  • Endoplasmic reticulum
  • GTP-binding
  • Hydrolase
  • Neuropathy
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying all 3 entries
UniProt Protein Name
F5H6I7
Q6DD88
B4DXC4
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Disease
Disease Ontology
Displaying all 3 entries
DO ID Disease Name Source
DOID:0070154 hereditary sensory neuropathy type 1F
DOID:0110791 hereditary spastic paraplegia 3A
DOID:2476 hereditary spastic paraplegia
The Human Phenotype Ontology
Displaying entries 31 - 36 of 36 in total
HPO ID HPO Term
HP:0010829 Impaired temperature sensation
HP:0010834 Trophic changes related to pain
HP:0011462 Young adult onset
HP:0012735 Cough
HP:0100287 EMG: slow motor conduction
HP:0200042 Skin ulcer
Displaying all 2 entries
Disease ID Disease Name
OMIM:615632
  • neuropathy, hereditary sensory, type 1F
ORPHA:36386
  • hereditary sensory and autonomic neuropathy type 1

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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: February 17, 2025