SLC39A13
Zinc transporter ZIP13
Also known as: FLJ25785, S39AD_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96H72
- Gene
- SLC39A13
- Ensembl
- ENSG00000165915
- Chromosome
- 11
- Canonical length
- 371 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome. Alternate transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
Canonical amino-acid sequenceUniProt
371 residues, UniProt reviewed canonical sequence.
>Q96H72|SLC39A13
1 MPGCPCPGCG MAGPRLLFLT ALALELLERA GGSQPALRSR GTATACRLDN KESESWGALL
61 SGERLDTWIC SLLGSLMVGL SGVFPLLVIP LEMGTMLRSE AGAWRLKQLL SFALGGLLGN
121 VFLHLLPEAW AYTCSASPGG EGQSLQQQQQ LGLWVIAGIL TFLALEKMFL DSKEEGTSQA
181 PNKDPTAAAA ALNGGHCLAQ PAAEPGLGAV VRSIKVSGYL NLLANTIDNF THGLAVAASF
241 LVSKKIGLLT TMAILLHEIP HEVGDFAILL RAGFDRWSAA KLQLSTALGG LLGAGFAICT
301 QSPKGVVGCS PAAEETAAWV LPFTSGGFLY IALVNVLPDL LEEEDPWRSL QQLLLLCAGI
361 VVMVLFSLFV DLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC39A13 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
- Other membrane
- Secreted
- No
- Transmembrane segments
- 8
- Mean surface accessibility (rSASA)
- 0.36
- Highest tissue expression
- 85 nTPM
Expression across tissuesHPA
Tissue
- kidney: 85 nTPM
- blood vessel: 81 nTPM
- endometrium: 69 nTPM
- testis: 69 nTPM
- cerebellum: 59 nTPM
- lung: 57 nTPM
Single-cell type
- late spermatids: 1,677 nCPM
- early spermatids: 348 nCPM
- late primary spermatocytes: 82 nCPM
- alveolar cells type 1: 44 nCPM
- peritubular myoid cells: 40 nCPM
- decidual stromal cells: 40 nCPM
Immune cell
- non-classical monocyte: 15 nTPM
- intermediate monocyte: 13 nTPM
- gdT-cell: 12 nTPM
- memory CD8 T-cell: 8.9 nTPM
- MAIT T-cell: 8.5 nTPM
- memory CD4 T-cell: 8.2 nTPM
Brain region
- thalamus: 55 nTPM
- medulla oblongata: 50 nTPM
- basal ganglia: 46 nTPM
- pons: 45 nTPM
- cerebellum: 45 nTPM
- choroid plexus: 44 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC39A13.
Disease | AllUniProt
Conditions SLC39A13 is implicated in, by any mechanism.
- Ehlers-Danlos syndrome, spondylodysplastic type, 3 (EDSSPD3) MIM:612350
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 417 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Ehlers-Danlos syndrome, spondylocheirodysplastic type
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)
- 0.8
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.26
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- brown fat cell differentiation
- connective tissue development
- intracellular zinc ion homeostasis
- zinc ion transmembrane transport
- zinc ion transport
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC39A13 as an antibody target. Whether an autoantibody or antibody against SLC39A13 could matter depends on whether native SLC39A13 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC39A13 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SLC39A13 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...