NIPAL4
entrez
348938
canonical
uniprot
Q0D2K0
canonical
ensembl
ENSG00000172548
resolver
ensp
ENSP00000311687
resolver
ensp
ENSP00000406456
resolver
genesymbol
NIPAL4
resolver
genesymbol_syn
ICHN
resolver
genesymbol_syn
NIPA4
resolver
hgnc
HGNC:28018
resolver
uniprot
A8S6F1
resolver
uniprot
A8S6F5
resolver
uniprot
A8S6F8
resolver
uniprot
B4DLF3
resolver
uniprot
Q0D2J8
resolver
uniprot
Q0D2J9
resolver
uniprot_entry
NIPA4_HUMAN
resolver
uniprot_sec
A8S6F1
resolver
uniprot_sec
A8S6F5
resolver
uniprot_sec
A8S6F8
resolver
uniprot_sec
B4DLF3
resolver
uniprot_sec
Q0D2J8
resolver
uniprot_sec
Q0D2J9
resolver
amino_acid_sequence
MELRVSNTSCENGSLLHLYCSSQEVLCQIVNDLSPEVPSNATFHSWQERIRQNYGFYIGLGLAFLSSFLIGSSVILKKKGLLRLVATGATRAVDGGFGYLKDAMWWAGFLTMAAGEVANFGAYAFAPATVVTPLGALSVLISAILSSYFLRESLNLLGKLGCVICVAGSTVMVIHAPEEEKVTTIMEMASKMKDTGFIVFAVLLLVSCLILIFVIAPRYGQRNILIYIIICSVIGAFSVAAVKGLGITIKNFFQGLPVVRHPLPYILSLILALSLSTQVNFLNRALDIFNTSLVFPIYYVFFTTVVVTSSIILFKEWYSMSAVDIAGTLSGFVTIILGVFMLHAFKDLDISCASLPHMHKNPPPSPAPEPTVIRLEDKNVLVDNIELASTSSPEEKPKVFIIHS
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:15317751, ECO:0000269|PubMed:17557927, ECO:0000269|PubMed:26456858}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Ba(2+), Sr(2+) and Fe(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 (PubMed:15317751). {ECO:0000250|UniProtKB:Q8BZF2, ECO:0000269|PubMed:15317751}.
uniprot
proteins
mass_dalton
44005
uniprot
proteins
protein_family
NIPA family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15317751
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17557927
uniprot
proteins
pubmed
26456858
uniprot
proteins
sequence_length
404
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9JJC8}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 56..76; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 103..123; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 125..145; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 154..174; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 196..216; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 224..244; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 262..282; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 294..314; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 325..345; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins