InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ZFYVE27

Summary

InnateDB Protein

IDBP-384075.5

Last Modified

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

Gene Symbol

ZFYVE27

Protein Name

zinc finger, FYVE domain containing 27

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000409594

InnateDB Gene

IDBG-85688 (ZFYVE27)

Protein Structure

UniProt Annotation

Function

Functions as an upstream inhibitor of RAB11, regulating directional protein transport to the forming neurites. Involved in nerve growth factor-induced neurite formation. May have a more general role in cell projections formation. {ECO:0000269PubMed:17082457, ECO:0000269PubMed:19289470}.

Subcellular Localization

Recycling endosome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell projection, growth cone membrane; Multi- pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=Localizes at both dendrites and axons. {ECO:0000250}.

Disease Associations

Spastic paraplegia 33, autosomal dominant (SPG33) [MIM:610244]: 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:16826525}. Note=The disease is caused by mutations affecting the gene represented in this entry. According to PubMed:18606302, the properties of the variant Val- 191 and its frequency in some populations raise doubts on the implication of that gene in the disease.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.