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atlastin GTPase 3

Summary

Gene Symbol

ATL3

Aliases

DKFZP564J0863

Organism

Homo sapiens (human)

External Links

NCBI Gene

25923

HGNC

24526

PubChem

25923

Alliance of Genome Resources

HGNC:24526

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

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum organization	IBA IMP	18270207 19665976
positive regulation of endoplasmic reticulum tubular network organization	IMP	27619977
Golgi organization	IMP	18270207
protein homooligomerization	IBA IDA	18270207
endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	18270207

GO Hierarchy

biological process

cellular process [inference]

vesicle-mediated transport [inference]

Golgi vesicle transport [inference]

endoplasmic reticulum to Golgi vesicle-mediated transport

cellular localization [inference]

intracellular transport [inference]

endoplasmic reticulum to Golgi vesicle-mediated transport

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cellular component assembly [inference]

protein-containing complex assembly [inference]

protein complex oligomerization [inference]

protein homooligomerization

protein-containing complex organization [inference]

protein-containing complex assembly [inference]

protein complex oligomerization [inference]

protein homooligomerization

localization [inference]

establishment of localization [inference]

transport [inference]

vesicle-mediated transport [inference]

Golgi vesicle transport [inference]

endoplasmic reticulum to Golgi vesicle-mediated transport

intracellular transport [inference]

endoplasmic reticulum to Golgi vesicle-mediated transport

establishment of localization in cell [inference]

intracellular transport [inference]

endoplasmic reticulum to Golgi vesicle-mediated transport

cellular localization [inference]

intracellular transport [inference]

endoplasmic reticulum to Golgi vesicle-mediated transport

biological regulation [inference]

regulation of biological process [inference]

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of cellular component organization [inference]

positive regulation of organelle organization [inference]

positive regulation of endoplasmic reticulum tubular network organization

regulation of cellular process [inference]

positive regulation of cellular process [inference]

positive regulation of cellular component organization [inference]

positive regulation of organelle organization [inference]

positive regulation of endoplasmic reticulum tubular network organization

regulation of cellular component organization [inference]

regulation of organelle organization [inference]

positive regulation of organelle organization [inference]

positive regulation of endoplasmic reticulum tubular network organization

regulation of endoplasmic reticulum tubular network organization [inference]

positive regulation of endoplasmic reticulum tubular network organization

positive regulation of cellular component organization [inference]

positive regulation of organelle organization [inference]

positive regulation of endoplasmic reticulum tubular network organization

Displaying **all 4** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum	IDA	18270207
membrane	HDA IDA	18270207 19946888
endoplasmic reticulum tubular network membrane	IDA	25548161 27619977
endoplasmic reticulum tubular network	IDA	23969831

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle membrane [inference]

endoplasmic reticulum membrane [inference]

endoplasmic reticulum tubular network membrane

organelle subcompartment [inference]

endoplasmic reticulum subcompartment [inference]

endoplasmic reticulum tubular network

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

Displaying **all 4** entries
GO Term	Evidence Code	PMID
GTPase activity	IBA NAS	18270207
protein binding	IPI	23969831 32075961
identical protein binding	IDA	18270207
GTP binding	IBA

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on acid anhydrides [inference]

hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides [inference]

pyrophosphatase activity [inference]

ribonucleoside triphosphate phosphatase activity [inference]

GTPase activity

binding [inference]

protein binding

identical protein binding

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

guanyl nucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

GTP binding

organic cyclic compound binding [inference]

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

guanyl nucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

purine ribonucleoside triphosphate binding [inference]

GTP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

Gene Ontology information from NCBI Gene and UniProt.

Disease

Disease Ontology

Displaying **all 3** entries
DO ID	Disease Name	Source
DOID:0070154	hereditary sensory neuropathy type 1F	Alliance of Genome Resources
DOID:0110791	hereditary spastic paraplegia 3A	Alliance of Genome Resources
DOID:2476	hereditary spastic paraplegia	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **11 - 20** of 36 in total

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HPO ID	HPO Term
HP:0002460	Distal muscle weakness
HP:0002540	Inability to walk
HP:0002600	Hyporeflexia of lower limbs
HP:0002754	Osteomyelitis
HP:0002756	Pathologic fracture
HP:0002821	Neuropathic arthropathy
HP:0002936	Distal sensory impairment
HP:0003376	Steppage gait
HP:0003390	Sensory axonal neuropathy
HP:0003621	Juvenile onset