SLC39A5
Zinc transporter ZIP5
Also known as: S39A5_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6ZMH5
- Gene
- SLC39A5
- Ensembl
- ENSG00000139540
- Chromosome
- 12
- Canonical length
- 540 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Nucleoplasm,Vesicles
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
540 residues, UniProt reviewed canonical sequence.
>Q6ZMH5|SLC39A5
1 MMGSPVSHLL AGFCVWVVLG WVGGSVPNLG PAEQEQNHYL AQLFGLYGEN GTLTAGGLAR
61 LLHSLGLGRV QGLRLGQHGP LTGRAASPAA DNSTHRPQNP ELSVDVWAGM PLGPSGWGDL
121 EESKAPHLPR GPAPSGLDLL HRLLLLDHSL ADHLNEDCLN GSQLLVNFGL SPAAPLTPRQ
181 FALLCPALLY QIDSRVCIGA PAPAPPGDLL SALLQSALAV LLLSLPSPLS LLLLRLLGPR
241 LLRPLLGFLG ALAVGTLCGD ALLHLLPHAQ EGRHAGPGGL PEKDLGPGLS VLGGLFLLFV
301 LENMLGLLRH RGLRPRCCRR KRRNLETRNL DPENGSGMAL QPLQAAPEPG AQGQREKNSQ
361 HPPALAPPGH QGHSHGHQGG TDITWMVLLG DGLHNLTDGL AIGAAFSDGF SSGLSTTLAV
421 FCHELPHELG DFAMLLQSGL SFRRLLLLSL VSGALGLGGA VLGVGLSLGP VPLTPWVFGV
481 TAGVFLYVAL VDMLPALLRP PEPLPTPHVL LQGLGLLLGG GLMLAITLLE ERLLPVTTEGLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC39A5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 6
- Mean surface accessibility (rSASA)
- 0.44
- Highest tissue expression
- 292 nTPM
Expression across tissuesHPA
Tissue
- pancreas: 292 nTPM
- duodenum: 223 nTPM
- small intestine: 206 nTPM
- liver: 166 nTPM
- kidney: 103 nTPM
- colon: 69 nTPM
Single-cell type
- enterocytes: 745 nCPM
- colonocytes: 184 nCPM
- hepatocytes: 184 nCPM
- enteric transient amplifying cells: 173 nCPM
- paneth cells: 159 nCPM
- pancreatic acinar cells: 142 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 1.1 nTPM
- cerebral cortex: 0.9 nTPM
- amygdala: 0.6 nTPM
- medulla oblongata: 0.6 nTPM
- basal ganglia: 0.5 nTPM
- choroid plexus: 0.5 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC39A5.
Disease | AllUniProt
Conditions SLC39A5 is implicated in, by any mechanism.
- Myopia 24, autosomal dominant (MYP24) MIM:615946
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 130 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Myopia 24, autosomal dominant
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.2
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.24
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 1% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- BMP signaling pathway
- cellular response to zinc ion starvation
- eye development
- G1 to G0 transition involved in cell differentiation
- intracellular monoatomic cation homeostasis
- neural precursor cell proliferation
- positive regulation of mRNA splicing, via spliceosome
- zinc ion import across plasma membrane
- zinc ion transmembrane transport
- zinc ion transport
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC39A5 as an antibody target. Whether an autoantibody or antibody against SLC39A5 could matter depends on whether native SLC39A5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC39A5 is annotated at the cell surface, where native SLC39A5 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SLC39A5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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