InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NIPAL4

Summary

InnateDB Protein

IDBP-55512.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NIPAL4

Protein Name

NIPA-like domain containing 4

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000311687

InnateDB Gene

IDBG-55510 (NIPAL4)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.

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.

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}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.