UniProtKB - Q0D2K0 (NIPA4_HUMAN)
Protein
Magnesium transporter NIPA4
Gene
NIPAL4
Organism
Homo sapiens (Human)
Status
Functioni
Acts as a Mg2+ transporter. Can also transport other divalent cations such as Ba2+, Mn2+, Sr2+ and Co2+ but to a much less extent than Mg2+ (By similarity). May be a receptor for ligands (trioxilins A3 and B3) from the hepoxilin pathway.By similarity1 Publication
GO - Molecular functioni
- magnesium ion transmembrane transporter activity Source: InterPro
GO - Biological processi
- magnesium ion transport Source: GO_Central
Keywordsi
Molecular function | Receptor |
Biological process | Ion transport, Transport |
Ligand | Magnesium |
Enzyme and pathway databases
PathwayCommonsi | Q0D2K0 |
Reactomei | R-HSA-5223345, Miscellaneous transport and binding events |
Protein family/group databases
TCDBi | 2.A.7.25.4, the drug/metabolite transporter (dmt) superfamily |
Names & Taxonomyi
Protein namesi | Recommended name: Magnesium transporter NIPA4Alternative name(s): Ichthyin NIPA-like protein 4 Non-imprinted in Prader-Willi/Angelman syndrome region protein 4 |
Gene namesi | Name:NIPAL4 Synonyms:ICHN, NIPA4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:28018, NIPAL4 |
MIMi | 609383, gene |
neXtProti | NX_Q0D2K0 |
VEuPathDBi | HostDB:ENSG00000172548.14 |
Subcellular locationi
Other locations
- Membrane Curated; Multi-pass membrane protein Curated
Other locations
- integral component of membrane Source: UniProtKB-KW
- membrane Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 117 | ExtracellularSequence analysisAdd BLAST | 117 | |
Transmembranei | 118 – 138 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 139 – 164 | CytoplasmicSequence analysisAdd BLAST | 26 | |
Transmembranei | 165 – 185 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 186 | ExtracellularSequence analysis | 1 | |
Transmembranei | 187 – 207 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 208 – 215 | CytoplasmicSequence analysis | 8 | |
Transmembranei | 216 – 236 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 237 – 257 | ExtracellularSequence analysisAdd BLAST | 21 | |
Transmembranei | 258 – 278 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 279 – 285 | CytoplasmicSequence analysis | 7 | |
Transmembranei | 286 – 306 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 307 – 323 | ExtracellularSequence analysisAdd BLAST | 17 | |
Transmembranei | 324 – 344 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 345 – 355 | CytoplasmicSequence analysisAdd BLAST | 11 | |
Transmembranei | 356 – 376 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 377 – 386 | ExtracellularSequence analysis | 10 | |
Transmembranei | 387 – 407 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 408 – 466 | CytoplasmicSequence analysisAdd BLAST | 59 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Ichthyosis, congenital, autosomal recessive 6 (ARCI6)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_075461 | 135 | S → R in ARCI6. 1 PublicationCorresponds to variant dbSNP:rs376803325Ensembl. | 1 | |
Natural variantiVAR_031736 | 142 | G → V in ARCI6. 1 PublicationCorresponds to variant dbSNP:rs775903553EnsemblClinVar. | 1 | |
Natural variantiVAR_031737 | 176 | A → D in ARCI6; frequent mutation. 2 PublicationsCorresponds to variant dbSNP:rs199422217EnsemblClinVar. | 1 | |
Natural variantiVAR_031738 | 208 | S → F in ARCI6. 1 Publication | 1 | |
Natural variantiVAR_054120 | 230 | G → R in ARCI6. 1 PublicationCorresponds to variant dbSNP:rs370356566EnsemblClinVar. | 1 | |
Natural variantiVAR_031739 | 237 | H → N in ARCI6. 1 Publication | 1 | |
Natural variantiVAR_031740 | 297 | G → R in ARCI6. 1 PublicationCorresponds to variant dbSNP:rs375688767EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, IchthyosisOrganism-specific databases
DisGeNETi | 348938 |
GeneReviewsi | NIPAL4 |
MalaCardsi | NIPAL4 |
MIMi | 612281, phenotype |
OpenTargetsi | ENSG00000172548 |
Orphaneti | 79394, Congenital non-bullous ichthyosiform erythroderma 313, Lamellar ichthyosis |
PharmGKBi | PA164723956 |
Miscellaneous databases
Pharosi | Q0D2K0, Tbio |
Genetic variation databases
BioMutai | NIPAL4 |
DMDMi | 221222524 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000284447 | 1 – 466 | Magnesium transporter NIPA4Add BLAST | 466 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 69 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 74 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 102 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
MassIVEi | Q0D2K0 |
MaxQBi | Q0D2K0 |
PaxDbi | Q0D2K0 |
PeptideAtlasi | Q0D2K0 |
PRIDEi | Q0D2K0 |
ProteomicsDBi | 58743 [Q0D2K0-1] 58744 [Q0D2K0-2] |
PTM databases
GlyGeni | Q0D2K0, 3 sites |
iPTMneti | Q0D2K0 |
PhosphoSitePlusi | Q0D2K0 |
Expressioni
Tissue specificityi
Highly expressed in brain, lung, stomach, keratinocytes and leukocytes, and in all other tissues tested except liver, thyroid and fetal brain.2 Publications
Gene expression databases
Bgeei | ENSG00000172548, Expressed in skin of abdomen and 141 other tissues |
ExpressionAtlasi | Q0D2K0, baseline and differential |
Genevisiblei | Q0D2K0, HS |
Organism-specific databases
HPAi | ENSG00000172548, Tissue enhanced (brain, skin) |
Interactioni
Binary interactionsi
Hide detailsQ0D2K0
Protein-protein interaction databases
BioGRIDi | 131541, 20 interactors |
IntActi | Q0D2K0, 16 interactors |
STRINGi | 9606.ENSP00000311687 |
Miscellaneous databases
RNActi | Q0D2K0, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the NIPA family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2922, Eukaryota |
GeneTreei | ENSGT00940000159087 |
HOGENOMi | CLU_012349_1_2_1 |
InParanoidi | Q0D2K0 |
OMAi | QVLCQIV |
OrthoDBi | 754939at2759 |
PhylomeDBi | Q0D2K0 |
TreeFami | TF313214 |
Family and domain databases
InterProi | View protein in InterPro IPR008521, Mg_trans_NIPA |
PANTHERi | PTHR12570, PTHR12570, 1 hit |
Pfami | View protein in Pfam PF05653, Mg_trans_NIPA, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q0D2K0-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MPGDSSPGTL PLWDASLSPP LGPDPGGFSR ASHAGDKSRP PAPELGSPGA
60 70 80 90 100
VRPRVGSCAP GPMELRVSNT SCENGSLLHL YCSSQEVLCQ IVNDLSPEVP
110 120 130 140 150
SNATFHSWQE RIRQNYGFYI GLGLAFLSSF LIGSSVILKK KGLLRLVATG
160 170 180 190 200
ATRAVDGGFG YLKDAMWWAG FLTMAAGEVA NFGAYAFAPA TVVTPLGALS
210 220 230 240 250
VLISAILSSY FLRESLNLLG KLGCVICVAG STVMVIHAPE EEKVTTIMEM
260 270 280 290 300
ASKMKDTGFI VFAVLLLVSC LILIFVIAPR YGQRNILIYI IICSVIGAFS
310 320 330 340 350
VAAVKGLGIT IKNFFQGLPV VRHPLPYILS LILALSLSTQ VNFLNRALDI
360 370 380 390 400
FNTSLVFPIY YVFFTTVVVT SSIILFKEWY SMSAVDIAGT LSGFVTIILG
410 420 430 440 450
VFMLHAFKDL DISCASLPHM HKNPPPSPAP EPTVIRLEDK NVLVDNIELA
460
STSSPEEKPK VFIIHS
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH0YC31 | H0YC31_HUMAN | Magnesium transporter NIPA4 | NIPAL4 | 132 | Annotation score: |
Sequence cautioni
The sequence ABW69630 differs from that shown. Protein truncation is due to an exon 5 splice site mutation which is found in a ARCII patient.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 213 | R → G in BAG59515 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 213 | R → G in AAI05711 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_075461 | 135 | S → R in ARCI6. 1 PublicationCorresponds to variant dbSNP:rs376803325Ensembl. | 1 | |
Natural variantiVAR_031736 | 142 | G → V in ARCI6. 1 PublicationCorresponds to variant dbSNP:rs775903553EnsemblClinVar. | 1 | |
Natural variantiVAR_031737 | 176 | A → D in ARCI6; frequent mutation. 2 PublicationsCorresponds to variant dbSNP:rs199422217EnsemblClinVar. | 1 | |
Natural variantiVAR_031738 | 208 | S → F in ARCI6. 1 Publication | 1 | |
Natural variantiVAR_054120 | 230 | G → R in ARCI6. 1 PublicationCorresponds to variant dbSNP:rs370356566EnsemblClinVar. | 1 | |
Natural variantiVAR_031739 | 237 | H → N in ARCI6. 1 Publication | 1 | |
Natural variantiVAR_031740 | 297 | G → R in ARCI6. 1 PublicationCorresponds to variant dbSNP:rs375688767EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_036122 | 156 – 174 | Missing in isoform 2. 1 PublicationAdd BLAST | 19 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | EF599763 Genomic DNA Translation: ABW69628.1 EF599764 Genomic DNA Translation: ABW69629.1 EF599765 Genomic DNA No translation available. EF599766 Genomic DNA Translation: ABW69630.1 Sequence problems. AK296972 mRNA Translation: BAG59515.1 AC008676 Genomic DNA No translation available. BC105708 mRNA Translation: AAI05709.1 BC105709 mRNA Translation: AAI05710.1 BC105710 mRNA Translation: AAI05711.1 |
CCDSi | CCDS54944.1 [Q0D2K0-2] |
RefSeqi | NP_001092757.1, NM_001099287.1 NP_001165763.1, NM_001172292.1 [Q0D2K0-2] |
Genome annotation databases
Ensembli | ENST00000311946; ENSP00000311687; ENSG00000172548 [Q0D2K0-1] ENST00000435489; ENSP00000406456; ENSG00000172548 [Q0D2K0-2] |
GeneIDi | 348938 |
KEGGi | hsa:348938 |
UCSCi | uc003lwx.5, human [Q0D2K0-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | EF599763 Genomic DNA Translation: ABW69628.1 EF599764 Genomic DNA Translation: ABW69629.1 EF599765 Genomic DNA No translation available. EF599766 Genomic DNA Translation: ABW69630.1 Sequence problems. AK296972 mRNA Translation: BAG59515.1 AC008676 Genomic DNA No translation available. BC105708 mRNA Translation: AAI05709.1 BC105709 mRNA Translation: AAI05710.1 BC105710 mRNA Translation: AAI05711.1 |
CCDSi | CCDS54944.1 [Q0D2K0-2] |
RefSeqi | NP_001092757.1, NM_001099287.1 NP_001165763.1, NM_001172292.1 [Q0D2K0-2] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 131541, 20 interactors |
IntActi | Q0D2K0, 16 interactors |
STRINGi | 9606.ENSP00000311687 |
Protein family/group databases
TCDBi | 2.A.7.25.4, the drug/metabolite transporter (dmt) superfamily |
PTM databases
GlyGeni | Q0D2K0, 3 sites |
iPTMneti | Q0D2K0 |
PhosphoSitePlusi | Q0D2K0 |
Genetic variation databases
BioMutai | NIPAL4 |
DMDMi | 221222524 |
Proteomic databases
MassIVEi | Q0D2K0 |
MaxQBi | Q0D2K0 |
PaxDbi | Q0D2K0 |
PeptideAtlasi | Q0D2K0 |
PRIDEi | Q0D2K0 |
ProteomicsDBi | 58743 [Q0D2K0-1] 58744 [Q0D2K0-2] |
Protocols and materials databases
Antibodypediai | 48488, 73 antibodies |
DNASUi | 348938 |
Genome annotation databases
Ensembli | ENST00000311946; ENSP00000311687; ENSG00000172548 [Q0D2K0-1] ENST00000435489; ENSP00000406456; ENSG00000172548 [Q0D2K0-2] |
GeneIDi | 348938 |
KEGGi | hsa:348938 |
UCSCi | uc003lwx.5, human [Q0D2K0-1] |
Organism-specific databases
CTDi | 348938 |
DisGeNETi | 348938 |
GeneCardsi | NIPAL4 |
GeneReviewsi | NIPAL4 |
HGNCi | HGNC:28018, NIPAL4 |
HPAi | ENSG00000172548, Tissue enhanced (brain, skin) |
MalaCardsi | NIPAL4 |
MIMi | 609383, gene 612281, phenotype |
neXtProti | NX_Q0D2K0 |
OpenTargetsi | ENSG00000172548 |
Orphaneti | 79394, Congenital non-bullous ichthyosiform erythroderma 313, Lamellar ichthyosis |
PharmGKBi | PA164723956 |
VEuPathDBi | HostDB:ENSG00000172548.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2922, Eukaryota |
GeneTreei | ENSGT00940000159087 |
HOGENOMi | CLU_012349_1_2_1 |
InParanoidi | Q0D2K0 |
OMAi | QVLCQIV |
OrthoDBi | 754939at2759 |
PhylomeDBi | Q0D2K0 |
TreeFami | TF313214 |
Enzyme and pathway databases
PathwayCommonsi | Q0D2K0 |
Reactomei | R-HSA-5223345, Miscellaneous transport and binding events |
Miscellaneous databases
BioGRID-ORCSi | 348938, 3 hits in 981 CRISPR screens |
GenomeRNAii | 348938 |
Pharosi | Q0D2K0, Tbio |
PROi | PR:Q0D2K0 |
RNActi | Q0D2K0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000172548, Expressed in skin of abdomen and 141 other tissues |
ExpressionAtlasi | Q0D2K0, baseline and differential |
Genevisiblei | Q0D2K0, HS |
Family and domain databases
InterProi | View protein in InterPro IPR008521, Mg_trans_NIPA |
PANTHERi | PTHR12570, PTHR12570, 1 hit |
Pfami | View protein in Pfam PF05653, Mg_trans_NIPA, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NIPA4_HUMAN | |
Accessioni | Q0D2K0Primary (citable) accession number: Q0D2K0 Secondary accession number(s): A8S6F1 Q0D2J9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 17, 2007 |
Last sequence update: | January 20, 2009 | |
Last modified: | April 7, 2021 | |
This is version 119 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families