SLC39A5 (solute carrier family 39 member 5)

Gene

• Entrez ID: 283375
• Gene name: Solute carrier family 39 member 5
• Gene symbol: SLC39A5
• Synonyms (NCBI Gene): LZT-Hs7, MYP24, ZIP5
• Chromosome: 12
• Chromosome location: 12q13.3
• 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 invo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs199624584	C>A,G,T	Pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant, 5 prime UTR variant, stop gained
rs587777625	T>C,G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001654	Process	Eye development	IMP	24891338
GO:0005385	Function	Zinc ion transmembrane transporter activity	IBA
GO:0005385	Function	Zinc ion transmembrane transporter activity	IEA
GO:0005385	Function	Zinc ion transmembrane transporter activity	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006829	Process	Zinc ion transport	IEA
GO:0006829	Process	Zinc ion transport	ISS
GO:0015701	Process	Bicarbonate transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0030001	Process	Metal ion transport	IEA
GO:0030003	Process	Intracellular monoatomic cation homeostasis	IBA
GO:0030509	Process	BMP signaling pathway	IMP	24891338
GO:0034224	Process	Cellular response to zinc ion starvation	IEA
GO:0046873	Function	Metal ion transmembrane transporter activity	IEA
GO:0048026	Process	Positive regulation of mRNA splicing, via spliceosome	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0061351	Process	Neural precursor cell proliferation	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070315	Process	G1 to G0 transition involved in cell differentiation	ISS
GO:0071577	Process	Zinc ion transmembrane transport	IEA
GO:0071577	Process	Zinc ion transmembrane transport	ISS
GO:0071578	Process	Zinc ion import across plasma membrane	IBA
GO:0140410	Function	Monoatomic cation:bicarbonate symporter activity	IBA

Other IDs

• MIM: 608730
• HGNC: 20502
• e!Ensembl: ENSG00000139540

Protein

• UniProt ID: Q6ZMH5
• Protein name: Zinc transporter ZIP5 (Solute carrier family 39 member 5) (Zrt- and Irt-like protein 5) (ZIP-5)
• Protein function: Uniporter that transports zinc(2+) into polarized cells of enterocytes, pancreatic acinar and endoderm cells across the basolateral membrane and participates, notably, in zinc excretion from the intestine by the uptake of zinc from the blood int
• PDB: 7Y9C, 7YF2, 7YF4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02535	Zip	210 → 527	ZIP Zinc transporter	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in liver, kidney, pancreas, small intestine, colon, spleen, fetal liver and fetal kidney. {ECO:0000269|PubMed:15322118}.
• Sequence:

  MMGSPVSHLLAGFCVWVVLGWVGGSVPNLGPAEQEQNHYLAQLFGLYGENGTLTAGGLAR
  LLHSLGLGRVQGLRLGQHGPLTGRAASPAADNSTHRPQNPELSVDVWAGMPLGPSGWGDL
  EESKAPHLPRGPAPSGLDLLHRLLLLDHSLADHLNEDCLNGSQLLVNFGLSPAAPLTPRQ
  FALLCPALLYQIDSRVCIGAPAPAPPGDLLSALLQSALAVLLLSLPSPLSLLLLRLLGPR
  LLRPLLGFLGALAVGTLCGDALLHLLPHAQEGRHAGPGGLPEKDLGPGLSVLGGLFLLFV
  LENMLGLLRHRGLRPRCCRRKRRNLETRNLDPENGSGMALQPLQAAPEPGAQGQREKNSQ
  HPPALAPPGHQGHSHGHQGGTDITWMVLLGDGLHNLTDGLAIGAAFSDGFSSGLSTTLAV
  FCHELPHELGDFAMLLQSGLSFRRLLLLSLVSGALGLGGAVLGVGLSLGPVPLTPWVFGV
  TAGVFLYVALVDMLPALLRPPEPLPTPHVLLQGLGLLLGGGLMLAITLLEERLLPVTTEG
  

• Sequence length: 540

Pathways

KEGG:

Alzheimer disease
Parkinson disease

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Myopia 24, autosomal dominant	Likely pathogenic; Pathogenic	rs1356255450, rs199624584, rs587777625	RCV001706763 RCV000133506 RCV000133507

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
SLC39A5-related disorder	Benign; Likely benign	rs74812296, rs201565086, rs139208152, rs150715610, rs190059993, rs143449387, rs772254496, rs759059162, rs114552970	RCV003976203 RCV003960978 RCV003946525 RCV003919694 RCV003903973 RCV003944534 RCV003907387 RCV003937161 RCV003915929

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	32744318
Myopia	Associate	28442722, 34302427, 35002215, 37191617
Retinal Diseases	Associate	37191617
Zinc Deficiency Neonatal due to Low Breast Milk Zinc	Associate	34302427