SLC30A9

SLC30A9 is a protein-coding gene. Diseases associated with SLC30A9 include Birk-Landau-Perez Syndrome. Among its related pathways are Metal ion SLC transporters. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and ligand-dependent nuclear receptor transcription coactivator activity. SLC30A9 is ubiquitously expressed with high levels in cerebellum, skeletal muscle, thymus and kidney. SLC30A9 encodes a putative zinc transporter previously associated with Wnt signalling.

Full Name

SLC30A9

Function

Acts as a zinc transporter involved in intracellular zinc homeostasis (PubMed:28334855).
Functions as a secondary coactivator for nuclear receptors by cooperating with p160 coactivators subtypes. Plays a role in transcriptional activation of Wnt-responsive genes (By similarity).

Biological Process

Biological Process cellular zinc ion homeostasisManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process nucleotide-excision repairManual Assertion Based On ExperimentTAS:BHF-UCL
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Biological Process zinc ion transportManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Membrane
Nucleus
Cytoplasm
Cytoplasmic vesicle
Endoplasmic reticulum
Mainly in the cytoplasm (PubMed:10409434).
Partial co-localization with endoplasmic reticulum (PubMed:28334855).

Involvement in disease

Birk-Landau-Perez syndrome (BILAPES):
An autosomal recessive syndrome characterized by early-childhood onset of different combinations of intellectual disability, muscle weakness, camptocormia, oculomotor apraxia, and nephropathy.