InnateDB Protein
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IDBP-40865.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SLC39A4
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Protein Name
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solute carrier family 39 (zinc transporter), member 4
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000301305
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InnateDB Gene
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IDBG-40863 (SLC39A4)
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Protein Structure
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Function |
Plays an important role in cellular zinc homeostasis as a zinc transporter. Regulated in response to zinc availability (By similarity). {ECO:0000250}.
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Subcellular Localization |
Cell membrane {ECO:0000269PubMed:14612438}; Multi-pass membrane protein {ECO:0000269PubMed:14612438}. Recycling endosome membrane {ECO:0000269PubMed:14612438}; Multi- pass membrane protein {ECO:0000269PubMed:14612438}. Note=Colocalized with TFRC in the recycling endosomes. Cycles between endosomal compartments and the plasma membrane in response to zinc availability.
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Disease Associations |
Acrodermatitis enteropathica, zinc-deficiency type (AEZ) [MIM:201100]: A rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinical features are growth retardation, immune-system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders. {ECO:0000269PubMed:12032886, ECO:0000269PubMed:12068297, ECO:0000269PubMed:12787121, ECO:0000269PubMed:14702039}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Highly expressed in kidney, small intestine, stomach, colon, jejunum and duodenum. {ECO:0000269PubMed:12032886, ECO:0000269PubMed:12068297}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0005385
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zinc ion transmembrane transporter activity
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GO:0046873
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metal ion transmembrane transporter activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR003689
Zinc/iron permease
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PFAM |
PF02535
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q6P5W5
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PhosphoSite |
PhosphoSite-Q6P5W5
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TrEMBL |
Q9NX22
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UniProt Splice Variant |
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Entrez Gene |
55630
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UniGene |
Hs.521934
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RefSeq |
NP_570901
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HUGO |
HGNC:17129
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OMIM |
607059
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CCDS |
CCDS6424
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HPRD |
06137
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IMGT |
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EMBL |
AF205589
AK000334
AK000489
AK025537
BC001688
BC062625
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GenPept |
AAH01688
AAH62625
BAA91091
BAA91200
BAB15164
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