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Q0D2K0

- NIPA4_HUMAN

UniProt

Q0D2K0 - NIPA4_HUMAN

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Protein

Magnesium transporter NIPA4

Gene
NIPAL4, ICHN, NIPA4
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 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.1 Publication

GO - Molecular functioni

  1. magnesium ion transmembrane transporter activity Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Magnesium

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
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:28018. NIPAL4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 117117Extracellular Reviewed predictionAdd
BLAST
Transmembranei118 – 13821Helical; Reviewed predictionAdd
BLAST
Topological domaini139 – 16426Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei165 – 18521Helical; Reviewed predictionAdd
BLAST
Topological domaini186 – 1861Extracellular Reviewed prediction
Transmembranei187 – 20721Helical; Reviewed predictionAdd
BLAST
Topological domaini208 – 2158Cytoplasmic Reviewed prediction
Transmembranei216 – 23621Helical; Reviewed predictionAdd
BLAST
Topological domaini237 – 25721Extracellular Reviewed predictionAdd
BLAST
Transmembranei258 – 27821Helical; Reviewed predictionAdd
BLAST
Topological domaini279 – 2857Cytoplasmic Reviewed prediction
Transmembranei286 – 30621Helical; Reviewed predictionAdd
BLAST
Topological domaini307 – 32317Extracellular Reviewed predictionAdd
BLAST
Transmembranei324 – 34421Helical; Reviewed predictionAdd
BLAST
Topological domaini345 – 35511Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei356 – 37621Helical; Reviewed predictionAdd
BLAST
Topological domaini377 – 38610Extracellular Reviewed prediction
Transmembranei387 – 40721Helical; Reviewed predictionAdd
BLAST
Topological domaini408 – 46659Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti142 – 1421G → V in ARCI6. 1 Publication
VAR_031736
Natural varianti176 – 1761A → D in ARCI6; frequent mutation. 2 Publications
Corresponds to variant rs199422217 [ dbSNP | Ensembl ].
VAR_031737
Natural varianti208 – 2081S → F in ARCI6. 1 Publication
VAR_031738
Natural varianti230 – 2301G → R in ARCI6. 1 Publication
VAR_054120
Natural varianti237 – 2371H → N in ARCI6. 1 Publication
VAR_031739
Natural varianti297 – 2971G → R in ARCI6. 1 Publication
VAR_031740

Keywords - Diseasei

Disease mutation, Ichthyosis

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 466466Magnesium transporter NIPA4PRO_0000284447Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi69 – 691N-linked (GlcNAc...) Reviewed prediction
Glycosylationi74 – 741N-linked (GlcNAc...) Reviewed prediction
Glycosylationi102 – 1021N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ0D2K0.
PaxDbiQ0D2K0.
PRIDEiQ0D2K0.

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

ArrayExpressiQ0D2K0.
BgeeiQ0D2K0.
GenevestigatoriQ0D2K0.

Organism-specific databases

HPAiHPA038259.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000311687.

Structurei

3D structure databases

ProteinModelPortaliQ0D2K0.

Family & Domainsi

Sequence similaritiesi

Belongs to the NIPA family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG298616.
InParanoidiQ0D2K0.
OMAiWYSMSAV.
OrthoDBiEOG73BVD7.
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. Align

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

MPGDSSPGTL PLWDASLSPP LGPDPGGFSR ASHAGDKSRP PAPELGSPGA    50
VRPRVGSCAP GPMELRVSNT SCENGSLLHL YCSSQEVLCQ IVNDLSPEVP 100
SNATFHSWQE RIRQNYGFYI GLGLAFLSSF LIGSSVILKK KGLLRLVATG 150
ATRAVDGGFG YLKDAMWWAG FLTMAAGEVA NFGAYAFAPA TVVTPLGALS 200
VLISAILSSY FLRESLNLLG KLGCVICVAG STVMVIHAPE EEKVTTIMEM 250
ASKMKDTGFI VFAVLLLVSC LILIFVIAPR YGQRNILIYI IICSVIGAFS 300
VAAVKGLGIT IKNFFQGLPV VRHPLPYILS LILALSLSTQ VNFLNRALDI 350
FNTSLVFPIY YVFFTTVVVT SSIILFKEWY SMSAVDIAGT LSGFVTIILG 400
VFMLHAFKDL DISCASLPHM HKNPPPSPAP EPTVIRLEDK NVLVDNIELA 450
STSSPEEKPK VFIIHS 466
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 ABW69630.1 differs from that shown. Reason: Protein truncation is due to an exon 5 splice site mutation which is found in a ARCII patient.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti142 – 1421G → V in ARCI6. 1 Publication
VAR_031736
Natural varianti176 – 1761A → D in ARCI6; frequent mutation. 2 Publications
Corresponds to variant rs199422217 [ dbSNP | Ensembl ].
VAR_031737
Natural varianti208 – 2081S → F in ARCI6. 1 Publication
VAR_031738
Natural varianti230 – 2301G → R in ARCI6. 1 Publication
VAR_054120
Natural varianti237 – 2371H → N in ARCI6. 1 Publication
VAR_031739
Natural varianti297 – 2971G → R in ARCI6. 1 Publication
VAR_031740

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei156 – 17419Missing in isoform 2. VSP_036122Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti213 – 2131R → G in BAG59515. 1 Publication
Sequence conflicti213 – 2131R → G in AAI05711. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.4. human. [Q0D2K0-1]
uc011ddq.2. human. [Q0D2K0-2]

Polymorphism databases

DMDMi221222524.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 CCDS47328.1. [Q0D2K0-1 ]
CCDS54944.1. [Q0D2K0-2 ]
RefSeqi NP_001092757.1. NM_001099287.1. [Q0D2K0-1 ]
NP_001165763.1. NM_001172292.1. [Q0D2K0-2 ]
UniGenei Hs.4285.

3D structure databases

ProteinModelPortali Q0D2K0.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000311687.

Protein family/group databases

TCDBi 2.A.7.25.4. the drug/metabolite transporter (dmt) superfamily.

Polymorphism databases

DMDMi 221222524.

Proteomic databases

MaxQBi Q0D2K0.
PaxDbi Q0D2K0.
PRIDEi Q0D2K0.

Protocols and materials databases

DNASUi 348938.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000311946 ; ENSP00000311687 ; ENSG00000172548 . [Q0D2K0-1 ]
ENST00000435489 ; ENSP00000406456 ; ENSG00000172548 . [Q0D2K0-2 ]
GeneIDi 348938.
KEGGi hsa:348938.
UCSCi uc003lwx.4. human. [Q0D2K0-1 ]
uc011ddq.2. human. [Q0D2K0-2 ]

Organism-specific databases

CTDi 348938.
GeneCardsi GC05P156887.
GeneReviewsi NIPAL4.
H-InvDB HIX0005358.
HGNCi HGNC:28018. NIPAL4.
HPAi HPA038259.
MIMi 609383. gene.
612281. phenotype.
neXtProti NX_Q0D2K0.
Orphaneti 79394. Congenital non-bullous ichthyosiform erythroderma.
313. Lamellar ichthyosis.
PharmGKBi PA164723956.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG298616.
InParanoidi Q0D2K0.
OMAi WYSMSAV.
OrthoDBi EOG73BVD7.
PhylomeDBi Q0D2K0.
TreeFami TF313214.

Miscellaneous databases

GenomeRNAii 348938.
NextBioi 99459.
PROi Q0D2K0.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q0D2K0.
Bgeei Q0D2K0.
Genevestigatori Q0D2K0.

Family and domain databases

InterProi IPR008521. Mg_trans_NIPA.
[Graphical view ]
PANTHERi PTHR12570. PTHR12570. 1 hit.
Pfami PF05653. Mg_trans_NIPA. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis."
    Dahlqvist J., Klar J., Hausser I., Anton-Lamprecht I., Pigg M.H., Gedde-Dahl T., Gaanemo A., Vahlquist A., Dahl N.
    J. Med. Genet. 44:615-620(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANTS ARCI6 ASP-176 AND ARG-230.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Tongue.
  3. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 117-466 (ISOFORM 1).
  5. "Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis."
    Lefevre C., Bouadjar B., Karaduman A., Jobard F., Saker S., Ozguc M., Lathrop M., Prud'homme J.-F., Fischer J.
    Hum. Mol. Genet. 13:2473-2482(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARCI6 VAL-142; ASP-176; PHE-208; ASN-237 AND ARG-297, FUNCTION, TISSUE SPECIFICITY.

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: July 9, 2014
This is version 73 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

External Data

Dasty 3

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