InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC39A13

Summary

InnateDB Protein

IDBP-43338.6

Last Modified

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

Gene Symbol

SLC39A13

Protein Name

solute carrier family 39 (zinc transporter), member 13

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000354689

InnateDB Gene

IDBG-43334 (SLC39A13)

Protein Structure

UniProt Annotation

Function

Acts as a zinc-influx transporter. {ECO:0000269PubMed:21917916}.

Subcellular Localization

Golgi apparatus membrane {ECO:0000269PubMed:21917916}; Multi-pass membrane protein {ECO:0000269PubMed:21917916}.

Disease Associations

Ehlers-Danlos syndrome-like spondylocheirodysplasia (SCD- EDS) [MIM:612350]: Spondylocheiro dysplastic form of Ehlers-Danlos syndrome. The syndrome consists of a generalized skeletal dysplasia involving mainly the spine (spondylo) and striking clinical abnormalities of the hands (cheiro) in addition to the EDS-like features. Clinical features included postnatal growth retardation, moderate short stature, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers. Patients have thin, hyperelastic skin and hypermobile small joints consistent with an Ehlers- Danlos-like phenotype. Radiologic features included mild to moderate platyspondyly, mild to moderate osteopenia of the spine, small ileum, flat proximal femoral epiphyses, short, wide femoral necks, and broad metaphyses (elbows, knees, wrists, and interphalangeal joints). {ECO:0000269PubMed:18513683}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005385	zinc ion transmembrane transporter activity
GO:0042803	protein homodimerization activity
GO:0046873	metal ion transmembrane transporter activity

Biological Process

GO:0006882	cellular zinc ion homeostasis
GO:0030001	metal ion transport
GO:0055085	transmembrane transport
GO:0061448	connective tissue development
GO:0071577	zinc ion transmembrane transport

Cellular Component

GO:0005794	Golgi apparatus
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0030173	integral component of Golgi membrane
GO:0048471	perinuclear region of cytoplasm