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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)

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GO Term	Evidence Code	PMID
endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	18270207
endoplasmic reticulum organization	IMP	18270207 19665976
endoplasmic reticulum organization	IBA
Golgi organization	IMP	18270207
protein homooligomerization	IDA	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 5** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum	IDA	18270207
membrane	IDA	18270207
membrane	HDA	19946888
endoplasmic reticulum tubular network	IDA	23969831
endoplasmic reticulum tubular network membrane	IDA	25548161 27619977

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

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.

OrthoDB (Group)

Group level

Eukaryota

Group Name

atlastin

Functional Category

J: Translation, ribosomal structure and biogenesis
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 3** entries
Gene Ontology
GTP binding
endoplasmic reticulum organization
protein homooligomerization

Displaying **all 4** entries
InterPro
GB1/RHD3-type guanine nucleotide-binding (G) domain
Guanylate-binding protein, C-terminal domain superfamily
Guanylate-binding protein, N-terminal
P-loop containing nucleoside triphosphate hydrolase

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0070154	hereditary sensory neuropathy type 1F	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 36 in total

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HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0000365	Hearing impairment
HP:0000962	Hyperkeratosis
HP:0001026	Penetrating foot ulcers
HP:0001058	Poor wound healing
HP:0001324	Muscle weakness
HP:0001822	Hallux valgus
HP:0002020	Gastroesophageal reflux
HP:0002141	Gait imbalance
HP:0002270	Abnormality of the autonomic nervous system

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:36386	hereditary sensory and autonomic neuropathy type 1
OMIM:615632	neuropathy, hereditary sensory, type 1F

PubChem Disease

MedGen Diseases

Neuropathy, hereditary sensory, type 1F

OMIM Phenotypes

NEUROPATHY, HEREDITARY SENSORY, TYPE IF; HSN1F

KEGG Diseases

Hereditary sensory and autonomic neuropathy

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **1 - 10** of 74 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	25923	Xenbase:XB-GENE-1009682
Drosophila melanogaster	64225	FB:FBgn0039213
Mus musculus	109168	Xenbase:XB-GENE-1009682	MOUSE25734
Rattus norvegicus	309187		RATNO19956
Pan troglodytes	451280		PANTR03223
Canis lupus familiaris	476044		CANLF06132
Bos taurus	515124		BOVIN23347
Macaca mulatta	722170		MACMU10702
Equus caballus	100054275		HORSE05116
Ornithorhynchus anatinus	100083366		ORNAN19066

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Annotation

OrthoDB (Group)

PubChem Disease

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Acknowledgements