Entity Details

Primary name ATLA3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ6DD88
EntryNameATLA3_HUMAN
FullNameAtlastin-3
TaxID9606
Evidenceevidence at protein level
Length541
SequenceStatuscomplete
DateCreated2007-05-15
DateModified2021-06-02

Ontological Relatives

GenesATL3

GO terms

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GOName
GO:0003924 GTPase activity
GO:0005525 GTP binding
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0007029 endoplasmic reticulum organization
GO:0007030 Golgi organization
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0042802 identical protein binding
GO:0051260 protein homooligomerization
GO:0071782 endoplasmic reticulum tubular network
GO:0098826 endoplasmic reticulum tubular network membrane
GO:1903373 positive regulation of endoplasmic reticulum tubular network organization

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR003191 Guanylate-binding protein/Atlastin, C-terminalDomainDomain
IPR015894 Guanylate-binding protein, N-terminalDomainDomain
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR030386 GB1/RHD3-type guanine nucleotide-binding (G) domainDomainDomain
IPR036543 Guanylate-binding protein, C-terminal domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
615632 OMIMNeuropathy, hereditary sensory, 1F (HSN1F)An autosomal dominant sensory neuropathy affecting the lower limbs. Distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation. There is no autonomic involvement, spasticity, or cognitive impairment. The disease is caused by variants affecting the gene represented in this entry.