SLC39A14

This gene encodes a member of the the SLC39A family of divalent metal transporters that mediates the cellular uptake of manganese, zinc, iron, and cadmium. The encoded protein contains eight transmembrane domains, a histidine-rich motif, and a metalloprotease motif, and is expressed on the plasma membrane and the endocytic vesicle membrane. It is an important transporter of nontransferrin-bound iron and a critical regulator of manganese homeostasis. Naturally occurring mutations in this gene are associated with neurodegeneration with brain iron accumulation and early-onset parkinsonism-dystonia with hypermanganesemia. [provided by RefSeq, May 2017]

Description

Solute carrier family 39 member 14

Tissue specificity

Tissue enhanced (liver, pancreas)

Subcell location

Endoplasmic reticulum, Golgi apparatus, Plasma membrane

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

8 (22367278 - 22434129)

Ensembl ID

ENSG00000104635  (ver. 103.38)

Orthologs

Mouse Slc39a14: ENSMUSG00000022094

UniProt

Q15043

neXtProt

NX_Q15043

Human splice variants
Mouse splice variants

Protein structure