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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...

GO - Biological processi

    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 prediction
    Add
    BLAST
    Transmembranei118 – 13821Helical; Reviewed prediction
    Add
    BLAST
    Topological domaini139 – 16426Cytoplasmic Reviewed prediction
    Add
    BLAST
    Transmembranei165 – 18521Helical; Reviewed prediction
    Add
    BLAST
    Topological domaini186 – 1861Extracellular Reviewed prediction
    Transmembranei187 – 20721Helical; Reviewed prediction
    Add
    BLAST
    Topological domaini208 – 2158Cytoplasmic Reviewed prediction
    Transmembranei216 – 23621Helical; Reviewed prediction
    Add
    BLAST
    Topological domaini237 – 25721Extracellular Reviewed prediction
    Add
    BLAST
    Transmembranei258 – 27821Helical; Reviewed prediction
    Add
    BLAST
    Topological domaini279 – 2857Cytoplasmic Reviewed prediction
    Transmembranei286 – 30621Helical; Reviewed prediction
    Add
    BLAST
    Topological domaini307 – 32317Extracellular Reviewed prediction
    Add
    BLAST
    Transmembranei324 – 34421Helical; Reviewed prediction
    Add
    BLAST
    Topological domaini345 – 35511Cytoplasmic Reviewed prediction
    Add
    BLAST
    Transmembranei356 – 37621Helical; Reviewed prediction
    Add
    BLAST
    Topological domaini377 – 38610Extracellular Reviewed prediction
    Transmembranei387 – 40721Helical; Reviewed prediction
    Add
    BLAST
    Topological domaini408 – 46659Cytoplasmic Reviewed prediction
    Add
    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 NIPA4
    PRO_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...

    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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