InnateDB Protein
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IDBP-380878.5
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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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NIPAL4
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Protein Name
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NIPA-like domain containing 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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ENSP00000406456
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InnateDB Gene
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IDBG-55510 (NIPAL4)
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Protein Structure
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Function |
Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Ba(2+), Mn(2+), Sr(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). May be a receptor for ligands (trioxilins A3 and B3) from the hepoxilin pathway. {ECO:0000250, ECO:0000269PubMed:15317751}.
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Subcellular Localization |
Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
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Disease Associations |
Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269PubMed:15317751, ECO:0000269PubMed:17557927}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Highly expressed in brain, lung, stomach, keratinocytes and leukocytes, and in all other tissues tested except liver, thyroid and fetal brain. {ECO:0000269PubMed:15317751, ECO:0000269PubMed:17557927}.
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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:0015095
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magnesium 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 |
IPR000620
Drug/metabolite transporter
IPR008521
Magnesium transporter NIPA
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PFAM |
PF00892
PF05653
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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 |
Q0D2K0
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PhosphoSite |
PhosphoSite-
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
348938
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UniGene |
Hs.4285
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RefSeq |
NP_001165763
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HUGO |
HGNC:28018
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OMIM |
609383
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CCDS |
CCDS54944
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HPRD |
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IMGT |
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EMBL |
AC008676
AK296972
BC105708
BC105709
BC105710
EF599763
EF599764
EF599765
EF599766
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GenPept |
AAI05709
AAI05710
AAI05711
ABW69628
ABW69629
ABW69630
BAG59515
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