InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC33A1

Summary

InnateDB Protein

IDBP-244830.6

Last Modified

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

Gene Symbol

SLC33A1

Protein Name

solute carrier family 33 (acetyl-CoA transporter), member 1

Synonyms

ACATN; AT-1; AT1; CCHLND; SPG42;

Species

Homo sapiens

Ensembl Protein

ENSP00000376587

InnateDB Gene

IDBG-62363 (SLC33A1)

Protein Structure

UniProt Annotation

Function

Probable acetyl-CoA transporter necessary for O- acetylation of gangliosides. {ECO:0000269PubMed:9096318}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000305PubMed:9096318}; Multi-pass membrane protein {ECO:0000305PubMed:9096318}.

Disease Associations

Spastic paraplegia 42, autosomal dominant (SPG42) [MIM:612539]: 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:19061983}. Note=The disease is caused by mutations affecting the gene represented in this entry.Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) [MIM:614482]: An autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination. {ECO:0000269PubMed:22243965}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. With strongest signals in pancreas. {ECO:0000269PubMed:9096318}.

Comments

Interactions

Number of Interactions

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