SLC39A5 - solute carrier family 39 member 5 Gene

Also Known as ZIP5; MYP24; LZT-Hs7

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 283375

About SLC39A5

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:56,230,051-56,237,846 (from NCBI)

This gene has 11 transcripts (splice variants), 161 orthologues, 6 paralogues and is associated with 1 phenotype. Biased expression in duodenum (RPKM 78.5), small intestine (RPKM 76.3) and 4 other tissues.

Summary

The protein encoded by this gene belongs to the ZIP family of zinc transporters that transport zinc into cells from outside, and play a crucial role in controlling intracellular zinc levels. Zinc is an essential cofactor for many Enzymes and proteins involved in gene transcription, growth, development and differentiation. Mutations in this gene have been associated with autosomal dominant high myopia (MYP24). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

SLC39A5 Products (2)

mRNA Protein Name
NM_001135195.1 NP_001128667.1 zinc transporter ZIP5 precursor
NM_173596.3 NP_775867.2 zinc transporter ZIP5 precursor
Biological Process GO Annotation Evidence References Source
involved in BMP signaling pathway IMP
IMP: Inferred from mutant phenotype
24891338 GOA
involved in eye development IMP
IMP: Inferred from mutant phenotype
24891338 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC39A5 Protein Structure

Zip

Zip: ZIP Zinc transporter (212 - 526)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 540 a.a.
Protein Preferred Names Protein Names

zinc transporter ZIP5

  • ZRT/IRT-like protein 5

Related Diseases

Diseases Alias
Myopia 24, Autosomal Dominant
  • MYP24

  • Myopia, Type 24, Autosomal Dominant

Myopia
  • Near-Sightedness

  • Short-Sightedness

  • Nearsightedness

  • Nearsighted

  • Near Vision

  • Close Sighted

  • Myopic

  • Short-Sighted

  • Near Sighted

Refractive Error
  • Refractive Errors

Acrodermatitis Enteropathica, Zinc-Deficiency Type
  • Acrodermatitis Enteropathica

  • AEZ

  • Enteropathica

  • Brandt Syndrome

  • Ae

  • Acrodermatitis Enteropathica Zinc Deficiency Type

  • Danbolt-Cross Syndrome

  • Acrodermatitis Enteropathica, Zinc Deficiency Type

  • Inherited Zinc Deficiency

  • Acrodermatitis Enteropathica, Zinc Deficiency

  • Danbolt-Closs Syndrome

  • Primary Zinc Malabsorption Syndrome

Hypermanganesemia With Dystonia 2
  • HMNDYT2

  • Dystonia-Parkinsonism-Hypermanganesemia Syndrome

  • Hypermanganesemia With Dystonia, Type 2

Hypermanganesemia With Dystonia 1
  • Hypermanganesemia With Dystonia, Polycythemia, And Cirrhosis

  • HMNDYT1

  • Hmdpc

  • Hypermanganesemia With Dystonia Polycythemia And Cirrhosis

  • Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, Chronic Liver Disease

  • Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome

Hypermanganesemia With Dystonia
  • Familial Manganese-Induced Neurotoxicity

  • Hmndyt

Ehlers-Danlos Syndrome
  • Eds

  • Cutis Hyperelastica

  • Elastic Skin

  • Ehlers-Danlos Syndromes

  • Ed Syndrome

  • Ehlers Danlos Syndrome

  • Ehlers Danlos Disease

  • Eds - [Ehlers-Danlos Syndrome]

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta SLC39A5 VGNC VGNC:82239
Mus musculus SLC39A5 MGD MGI:1919336
Felis catus SLC39A5 VGNC VGNC:65361
Bos taurus SLC39A5 VGNC VGNC:34865
Rattus norvegicus SLC39A5 RGD RGD:1310322
Others SLC39A5 NCBI