Property Summary

NCBI Gene PubMed Count 11
Grant Count 5
R01 Count 4
Funding $955,464
PubMed Score 12.95
PubTator Score 8.35

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
osteosarcoma 1.642 0.000
atypical teratoid / rhabdoid tumor 1.600 0.000
glioblastoma 1.400 0.003
medulloblastoma, large-cell 1.200 0.000
ovarian cancer 1.200 0.000

Gene RIF (7)

PMID Text
25007800 Authors demonstrated that both the ZIP13(G64D) and ZIP13(DeltaFLA) protein levels are decreased by degradation via the valosin-containing protein (VCP)-linked ubiquitin proteasome pathway.
25006035 The spondylocheiro dysplastic form of Ehlers-Danlos syndrome, in which ZIP13 is defective, is likely due to a failure of iron delivery to the secretory compartments.
23213233 human ZIP13 releases zinc from vesicular stores
21917916 Biochemical characterization of human ZIP13 protein: a homo-dimerized zinc transporter involved in the spondylocheiro dysplastic Ehlers-Danlos syndrome.
21739577 mutations in the SLC39A13 gene do not account for the Ehlers-Danlos syndrome type VIB phenotype
19064571 Observational study of gene-disease association. (HuGE Navigator)
18513683 clinical features of 6 patients from 2 consanguineous families with Ehlers-Danlos syndrome-like features caused by a mutation in the zinc transporter gene SLC39A13

AA Sequence

MPGCPCPGCGMAGPRLLFLTALALELLERAGGSQPALRSRGTATACRLDNKESESWGALLSGERLDTWIC      1 - 70
SLLGSLMVGLSGVFPLLVIPLEMGTMLRSEAGAWRLKQLLSFALGGLLGNVFLHLLPEAWAYTCSASPGG     71 - 140
EGQSLQQQQQLGLWVIAGILTFLALEKMFLDSKEEGTSQAPNKDPTAAAAALNGGHCLAQPAAEPGLGAV    141 - 210
VRSIKVSGYLNLLANTIDNFTHGLAVAASFLVSKKIGLLTTMAILLHEIPHEVGDFAILLRAGFDRWSAA    211 - 280
KLQLSTALGGLLGAGFAICTQSPKGVVGCSPAAEETAAWVLPFTSGGFLYIALVNVLPDLLEEEDPWRSL    281 - 350
QQLLLLCAGIVVMVLFSLFVD                                                     351 - 371
//

Text Mined References (15)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
25007800 2014 Molecular pathogenesis of spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins.
25006035 2014 The metal transporter ZIP13 supplies iron into the secretory pathway in Drosophila melanogaster.
23213233 2012 Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome.
21917916 2011 Biochemical characterization of human ZIP13 protein: a homo-dimerized zinc transporter involved in the spondylocheiro dysplastic Ehlers-Danlos syndrome.
21739577 2011 Mutational analysis of 12 patients with the phenotype of Ehlers-Danlos syndrome type VIB shows no linkage to the zinc transporter gene SLC39A13.
18985159 2008 The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways.
18513683 2008 Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
More...