InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: VPS37A

Summary

InnateDB Protein

IDBP-479461.4

Last Modified

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

Gene Symbol

VPS37A

Protein Name

vacuolar protein sorting 37 homolog A (S. cerevisiae)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000429680

InnateDB Gene

IDBG-8627 (VPS37A)

Protein Structure

UniProt Annotation

Function

Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation. {ECO:0000269PubMed:15240819}.

Subcellular Localization

Late endosome membrane; Peripheral membrane protein. Nucleus.

Disease Associations

Spastic paraplegia 53, autosomal recessive (SPG53) [MIM:614898]: 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. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. SPG53 is characterized by pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis. {ECO:0000269PubMed:22717650}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Examined tissues include heart, brain, placenta, liver, skeletal muscle, kidney and pancreas. More abundant in liver. Strongly decreased or undetected in hepatomas. {ECO:0000269PubMed:14623289, ECO:0000269PubMed:22717650}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.

Experimentally validated
Total	18 [view]
Protein-Protein	17 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession

GO Term

Biological Process

GO:0008219	cell death
GO:0015031	protein transport
GO:0016032	viral process
GO:0016197	endosomal transport
GO:0019058	viral life cycle
GO:0019068	virion assembly
GO:0019082	viral protein processing
GO:0043162	ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
GO:0061024	membrane organization
GO:0075733	intracellular transport of virus

Cellular Component

GO:0000813	ESCRT I complex
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005813	centrosome
GO:0010008	endosome membrane
GO:0031902	late endosome membrane
GO:0043231	intracellular membrane-bounded organelle