InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ATL1

Summary

InnateDB Protein

IDBP-6065.6

Last Modified

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

Gene Symbol

ATL1

Protein Name

atlastin GTPase 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000351155

InnateDB Gene

IDBG-6063 (ATL1)

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. May also regulate Golgi biogenesis. May regulate axonal development. {ECO:0000269PubMed:14506257, ECO:0000269PubMed:17321752, ECO:0000269PubMed:18270207, ECO:0000269PubMed:19665976, ECO:0000269PubMed:21220294, ECO:0000269PubMed:23334294}.

Subcellular Localization

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Cell projection, axon {ECO:0000250}.

Disease Associations

Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269PubMed:11685207, ECO:0000269PubMed:12112092, ECO:0000269PubMed:12939451, ECO:0000269PubMed:14695538, ECO:0000269PubMed:15184642, ECO:0000269PubMed:16533974, ECO:0000269PubMed:17427918, ECO:0000269PubMed:20718791, ECO:0000269PubMed:20932283}. Note=The disease is caused by mutations affecting the gene represented in this entry.Neuropathy, hereditary sensory, 1D (HSN1D) [MIM:613708]: A disease characterized by adult-onset distal axonal sensory neuropathy leading to mutilating ulcerations as well as hyporeflexia. Some patients may show features suggesting upper neuron involvement. {ECO:0000269PubMed:21194679}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed predominantly in the adult and fetal central nervous system. Measurable expression in all tissues examined, although expression in adult brain is at least 50-fold higher than in other tissues. Detected predominantly in pyramidal neurons in the cerebral cortex and the hippocampus of the brain. Expressed in upper and lower motor neurons (at protein level). {ECO:0000269PubMed:14506257, ECO:0000269PubMed:17321752, ECO:0000269PubMed:18270207}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [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:0005515	protein binding
GO:0005525	GTP binding
GO:0042802	identical protein binding

Biological Process

GO:0006184	GTP catabolic process
GO:0007029	endoplasmic reticulum organization
GO:0007409	axonogenesis
GO:0008219	cell death
GO:0051260	protein homooligomerization

Cellular Component

GO:0000137	Golgi cis cisterna
GO:0000139	Golgi membrane
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0005794	Golgi apparatus
GO:0016021	integral component of membrane
GO:0030424	axon

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

Q8WXF7

PhosphoSite