InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ATL3

Summary

InnateDB Protein

IDBP-232053.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ATL3

Protein Name

atlastin GTPase 3

Synonyms

HSN1F;

Species

Homo sapiens

Ensembl Protein

ENSP00000381844

InnateDB Gene

IDBG-52583 (ATL3)

Protein Structure

UniProt Annotation

Function

GTPase tethering membranes through formation of trans- homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. {ECO:0000269PubMed:18270207, ECO:0000269PubMed:19665976}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:18270207, ECO:0000269PubMed:24459106}; Multi- pass membrane protein {ECO:0000269PubMed:18270207, ECO:0000269PubMed:24459106}. Note=Localizes to endoplasmic reticulum tubules and accumulates in punctuate structures corresponding to 3-way junctions, which represent crossing-points at which the tubules build a polygonal network.

Disease Associations

Neuropathy, hereditary sensory, 1F (HSN1F) [MIM:615632]: 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. {ECO:0000269PubMed:24459106}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the central nervous system and in dorsal root ganglia neurons. Expressed in peripheral tissues (at protein level). {ECO:0000269PubMed:18270207, ECO:0000269PubMed:24459106}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003924	GTPase activity
GO:0005525	GTP binding
GO:0042802	identical protein binding

Biological Process

GO:0006184	GTP catabolic process
GO:0007029	endoplasmic reticulum organization
GO:0007030	Golgi organization
GO:0051260	protein homooligomerization

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0016020	membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR003191 Guanylate-binding protein, C-terminal
IPR015894 Guanylate-binding protein, N-terminal
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF02841
PF02263

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q6DD88

PhosphoSite