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Protein

Magnesium transporter NIPA4

Gene

NIPAL4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Receptor

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Magnesium

Enzyme and pathway databases

ReactomeiR-HSA-5223345. Miscellaneous transport and binding events.

Protein family/group databases

TCDBi2.A.7.25.4. the drug/metabolite transporter (dmt) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Magnesium transporter NIPA4
Alternative name(s):
Ichthyin
NIPA-like protein 4
Non-imprinted in Prader-Willi/Angelman syndrome region protein 4
Gene namesi
Name:NIPAL4
Synonyms:ICHN, NIPA4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:28018. NIPAL4.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 117ExtracellularSequence analysisAdd BLAST117
Transmembranei118 – 138HelicalSequence analysisAdd BLAST21
Topological domaini139 – 164CytoplasmicSequence analysisAdd BLAST26
Transmembranei165 – 185HelicalSequence analysisAdd BLAST21
Topological domaini186ExtracellularSequence analysis1
Transmembranei187 – 207HelicalSequence analysisAdd BLAST21
Topological domaini208 – 215CytoplasmicSequence analysis8
Transmembranei216 – 236HelicalSequence analysisAdd BLAST21
Topological domaini237 – 257ExtracellularSequence analysisAdd BLAST21
Transmembranei258 – 278HelicalSequence analysisAdd BLAST21
Topological domaini279 – 285CytoplasmicSequence analysis7
Transmembranei286 – 306HelicalSequence analysisAdd BLAST21
Topological domaini307 – 323ExtracellularSequence analysisAdd BLAST17
Transmembranei324 – 344HelicalSequence analysisAdd BLAST21
Topological domaini345 – 355CytoplasmicSequence analysisAdd BLAST11
Transmembranei356 – 376HelicalSequence analysisAdd BLAST21
Topological domaini377 – 386ExtracellularSequence analysis10
Transmembranei387 – 407HelicalSequence analysisAdd BLAST21
Topological domaini408 – 466CytoplasmicSequence analysisAdd BLAST59

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Ichthyosis, congenital, autosomal recessive 6 (ARCI6)3 Publications
The disease is caused by mutations 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.
See also OMIM:612281
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075461135S → R in ARCI6. 1 Publication1
Natural variantiVAR_031736142G → V in ARCI6. 1 PublicationCorresponds to variant rs775903553dbSNPEnsembl.1
Natural variantiVAR_031737176A → D in ARCI6; frequent mutation. 2 PublicationsCorresponds to variant rs199422217dbSNPEnsembl.1
Natural variantiVAR_031738208S → F in ARCI6. 1 Publication1
Natural variantiVAR_054120230G → R in ARCI6. 1 PublicationCorresponds to variant rs370356566dbSNPEnsembl.1
Natural variantiVAR_031739237H → N in ARCI6. 1 Publication1
Natural variantiVAR_031740297G → R in ARCI6. 1 PublicationCorresponds to variant rs375688767dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Ichthyosis

Organism-specific databases

DisGeNETi348938.
MalaCardsiNIPAL4.
MIMi612281. phenotype.
OpenTargetsiENSG00000172548.
Orphaneti79394. Congenital non-bullous ichthyosiform erythroderma.
313. Lamellar ichthyosis.
PharmGKBiPA164723956.

Polymorphism and mutation databases

BioMutaiNIPAL4.
DMDMi221222524.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002844471 – 466Magnesium transporter NIPA4Add BLAST466

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi69N-linked (GlcNAc...)Sequence analysis1
Glycosylationi74N-linked (GlcNAc...)Sequence analysis1
Glycosylationi102N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ0D2K0.
PaxDbiQ0D2K0.
PeptideAtlasiQ0D2K0.
PRIDEiQ0D2K0.

PTM databases

iPTMnetiQ0D2K0.
PhosphoSitePlusiQ0D2K0.

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

BgeeiENSG00000172548.
ExpressionAtlasiQ0D2K0. baseline and differential.
GenevisibleiQ0D2K0. HS.

Organism-specific databases

HPAiHPA038258.
HPA038259.

Interactioni

Protein-protein interaction databases

IntActiQ0D2K0. 2 interactors.
STRINGi9606.ENSP00000311687.

Structurei

3D structure databases

ProteinModelPortaliQ0D2K0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the NIPA family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2922. Eukaryota.
ENOG410XNR8. LUCA.
GeneTreeiENSGT00550000074395.
InParanoidiQ0D2K0.
OMAiFHSWQER.
OrthoDBiEOG091G0M8A.
PhylomeDBiQ0D2K0.
TreeFamiTF313214.

Family and domain databases

InterProiIPR008521. Mg_trans_NIPA.
[Graphical view]
PANTHERiPTHR12570. PTHR12570. 1 hit.
PfamiPF05653. Mg_trans_NIPA. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q0D2K0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:466
Mass (Da):50,058
Last modified:January 20, 2009 - v3
Checksum:iC84D024A68609C9E
GO
Isoform 2 (identifier: Q0D2K0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     156-174: Missing.

Show »
Length:447
Mass (Da):47,909
Checksum:iEE032469DFA26FBD
GO

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 keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti213R → G in BAG59515 (PubMed:14702039).Curated1
Sequence conflicti213R → G in AAI05711 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075461135S → R in ARCI6. 1 Publication1
Natural variantiVAR_031736142G → V in ARCI6. 1 PublicationCorresponds to variant rs775903553dbSNPEnsembl.1
Natural variantiVAR_031737176A → D in ARCI6; frequent mutation. 2 PublicationsCorresponds to variant rs199422217dbSNPEnsembl.1
Natural variantiVAR_031738208S → F in ARCI6. 1 Publication1
Natural variantiVAR_054120230G → R in ARCI6. 1 PublicationCorresponds to variant rs370356566dbSNPEnsembl.1
Natural variantiVAR_031739237H → N in ARCI6. 1 Publication1
Natural variantiVAR_031740297G → R in ARCI6. 1 PublicationCorresponds to variant rs375688767dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_036122156 – 174Missing in isoform 2. 1 PublicationAdd BLAST19

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.
CCDSiCCDS47328.1. [Q0D2K0-1]
CCDS54944.1. [Q0D2K0-2]
RefSeqiNP_001092757.1. NM_001099287.1. [Q0D2K0-1]
NP_001165763.1. NM_001172292.1. [Q0D2K0-2]
UniGeneiHs.4285.

Genome annotation databases

EnsembliENST00000311946; ENSP00000311687; ENSG00000172548. [Q0D2K0-1]
ENST00000435489; ENSP00000406456; ENSG00000172548. [Q0D2K0-2]
GeneIDi348938.
KEGGihsa:348938.
UCSCiuc003lwx.5. human. [Q0D2K0-1]

Keywords - Coding sequence diversityi

Alternative splicing

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.
CCDSiCCDS47328.1. [Q0D2K0-1]
CCDS54944.1. [Q0D2K0-2]
RefSeqiNP_001092757.1. NM_001099287.1. [Q0D2K0-1]
NP_001165763.1. NM_001172292.1. [Q0D2K0-2]
UniGeneiHs.4285.

3D structure databases

ProteinModelPortaliQ0D2K0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ0D2K0. 2 interactors.
STRINGi9606.ENSP00000311687.

Protein family/group databases

TCDBi2.A.7.25.4. the drug/metabolite transporter (dmt) superfamily.

PTM databases

iPTMnetiQ0D2K0.
PhosphoSitePlusiQ0D2K0.

Polymorphism and mutation databases

BioMutaiNIPAL4.
DMDMi221222524.

Proteomic databases

MaxQBiQ0D2K0.
PaxDbiQ0D2K0.
PeptideAtlasiQ0D2K0.
PRIDEiQ0D2K0.

Protocols and materials databases

DNASUi348938.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311946; ENSP00000311687; ENSG00000172548. [Q0D2K0-1]
ENST00000435489; ENSP00000406456; ENSG00000172548. [Q0D2K0-2]
GeneIDi348938.
KEGGihsa:348938.
UCSCiuc003lwx.5. human. [Q0D2K0-1]

Organism-specific databases

CTDi348938.
DisGeNETi348938.
GeneCardsiNIPAL4.
GeneReviewsiNIPAL4.
H-InvDBHIX0005358.
HGNCiHGNC:28018. NIPAL4.
HPAiHPA038258.
HPA038259.
MalaCardsiNIPAL4.
MIMi609383. gene.
612281. phenotype.
neXtProtiNX_Q0D2K0.
OpenTargetsiENSG00000172548.
Orphaneti79394. Congenital non-bullous ichthyosiform erythroderma.
313. Lamellar ichthyosis.
PharmGKBiPA164723956.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2922. Eukaryota.
ENOG410XNR8. LUCA.
GeneTreeiENSGT00550000074395.
InParanoidiQ0D2K0.
OMAiFHSWQER.
OrthoDBiEOG091G0M8A.
PhylomeDBiQ0D2K0.
TreeFamiTF313214.

Enzyme and pathway databases

ReactomeiR-HSA-5223345. Miscellaneous transport and binding events.

Miscellaneous databases

GenomeRNAii348938.
PROiQ0D2K0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000172548.
ExpressionAtlasiQ0D2K0. baseline and differential.
GenevisibleiQ0D2K0. HS.

Family and domain databases

InterProiIPR008521. Mg_trans_NIPA.
[Graphical view]
PANTHERiPTHR12570. PTHR12570. 1 hit.
PfamiPF05653. Mg_trans_NIPA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNIPA4_HUMAN
AccessioniPrimary (citable) accession number: Q0D2K0
Secondary accession number(s): A8S6F1
, A8S6F5, A8S6F8, B4DLF3, Q0D2J8, Q0D2J9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: January 20, 2009
Last modified: November 30, 2016
This is version 93 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.