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Q8BHK1

- NIPA1_MOUSE

UniProt

Q8BHK1 - NIPA1_MOUSE

Protein

Magnesium transporter NIPA1

Gene

Nipa1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 78 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      Previous versions | rss
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    Functioni

    Acts as a Mg2+ transporter. Can also transport other divalent cations such as Fe2+, Sr2+, Ba2+, Mn2+ and Co2+ but to a much less extent than Mg2+.1 Publication

    Kineticsi

    1. KM=0.69 mM for magnesium ions1 Publication

    GO - Molecular functioni

    1. magnesium ion transmembrane transporter activity Source: InterPro

    GO - Biological processi

    1. magnesium ion transport Source: UniProtKB

    Keywords - Biological processi

    Ion transport, Transport

    Keywords - Ligandi

    Magnesium

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Magnesium transporter NIPA1
    Alternative name(s):
    Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 homolog
    Gene namesi
    Name:Nipa1
    Synonyms:Spg6
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 7

    Organism-specific databases

    MGIiMGI:2442058. Nipa1.

    Subcellular locationi

    Cell membrane Curated; Multi-pass membrane protein Curated. Early endosome 1 Publication
    Note: Recruited to the cell membrane in response to low extracellular magnesium.

    GO - Cellular componenti

    1. early endosome Source: UniProtKB
    2. integral component of membrane Source: UniProtKB-KW
    3. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Endosome, Membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi39 – 391T → R: Failure to correctly traffic to the cell membrane and diminished Mg(2+) transport. 1 Publication
    Mutagenesisi100 – 1001G → R: Failure to correctly traffic to the cell membrane and complete loss of Mg(2+) transport. 1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 323323Magnesium transporter NIPA1PRO_0000191742Add
    BLAST

    Proteomic databases

    PRIDEiQ8BHK1.

    PTM databases

    PhosphoSiteiQ8BHK1.

    Expressioni

    Tissue specificityi

    Widely expressed. Predominantly expressed in neuronal tissues. Brain, heart, kidney, liver and colon (at protein level).2 Publications

    Inductioni

    Up-regulated by low magnesium ion levels.1 Publication

    Gene expression databases

    ArrayExpressiQ8BHK1.
    BgeeiQ8BHK1.
    GenevestigatoriQ8BHK1.

    Interactioni

    Subunit structurei

    Homodimer.Curated

    Structurei

    3D structure databases

    ProteinModelPortaliQ8BHK1.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2121ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini43 – 6018CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini82 – 821ExtracellularSequence Analysis
    Topological domaini104 – 1118CytoplasmicSequence Analysis
    Topological domaini133 – 15321ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini175 – 1773CytoplasmicSequence Analysis
    Topological domaini199 – 21820ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini240 – 25314CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini275 – 28410ExtracellularSequence Analysis
    Topological domaini306 – 32318CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei22 – 4221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei61 – 8121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei83 – 10321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei112 – 13221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei154 – 17421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei178 – 19821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei219 – 23921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei254 – 27421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei285 – 30521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the NIPA family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG287598.
    GeneTreeiENSGT00550000074395.
    HOGENOMiHOG000203962.
    HOVERGENiHBG055032.
    InParanoidiQ8BHK1.
    OMAiIQFRYIN.
    OrthoDBiEOG73BVD7.
    PhylomeDBiQ8BHK1.
    TreeFamiTF313214.

    Family and domain databases

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

    Sequencei

    Sequence statusi: Complete.

    Q8BHK1-1 [UniParc]FASTAAdd to Basket

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    MGTAAAAAAA GEGARGPSPA AVSLGLGVAV VSSLVNGSTF VLQKKGIVRA    50
    KRRGTSYLTD IVWWAGTIAM AVGQIGNFLA YTAVPTVLVT PLGALGVPFG 100
    SILASYLLKE KLNILGKLGC LLSCAGSVVL IIHSPKSESV TTQAELEEKL 150
    TNPVFVGYLC IVLLMLLLLI FWIAPAHGPT NIMVYISICS LLGSFTVPST 200
    KGIGLAAQDI LHNNPSSQRA LCLCLVLLAV LGCSIIVQFR YINKALECFD 250
    SSVFGAIYYV VFTTLVLLAS AILFREWSNV GLVDFLGMAC GFTTVSVGIV 300
    LIQVFKEFNF NLGEMNKSNM KTD 323
    Length:323
    Mass (Da):34,105
    Last modified:March 1, 2003 - v1
    Checksum:i0F5C2A35559A27E1
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY098645 mRNA. Translation: AAM34534.1.
    AK046619 mRNA. Translation: BAC32809.1.
    BC055828 mRNA. Translation: AAH55828.1.
    CCDSiCCDS21317.1.
    RefSeqiNP_705806.1. NM_153578.2.
    UniGeneiMm.389901.
    Mm.443911.

    Genome annotation databases

    EnsembliENSMUST00000052204; ENSMUSP00000053871; ENSMUSG00000047037.
    GeneIDi233280.
    KEGGimmu:233280.
    UCSCiuc009hdu.1. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY098645 mRNA. Translation: AAM34534.1 .
    AK046619 mRNA. Translation: BAC32809.1 .
    BC055828 mRNA. Translation: AAH55828.1 .
    CCDSi CCDS21317.1.
    RefSeqi NP_705806.1. NM_153578.2.
    UniGenei Mm.389901.
    Mm.443911.

    3D structure databases

    ProteinModelPortali Q8BHK1.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q8BHK1.

    Proteomic databases

    PRIDEi Q8BHK1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000052204 ; ENSMUSP00000053871 ; ENSMUSG00000047037 .
    GeneIDi 233280.
    KEGGi mmu:233280.
    UCSCi uc009hdu.1. mouse.

    Organism-specific databases

    CTDi 123606.
    MGIi MGI:2442058. Nipa1.

    Phylogenomic databases

    eggNOGi NOG287598.
    GeneTreei ENSGT00550000074395.
    HOGENOMi HOG000203962.
    HOVERGENi HBG055032.
    InParanoidi Q8BHK1.
    OMAi IQFRYIN.
    OrthoDBi EOG73BVD7.
    PhylomeDBi Q8BHK1.
    TreeFami TF313214.

    Miscellaneous databases

    NextBioi 381665.
    PROi Q8BHK1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8BHK1.
    Bgeei Q8BHK1.
    Genevestigatori Q8BHK1.

    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

    1. "Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons."
      Chai J.-H., Locke D.P., Greally J.M., Knoll J.H.M., Ohta T., Dunai J., Yavor A., Eichler E.E., Nicholls R.D.
      Am. J. Hum. Genet. 73:898-925(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
      Strain: FVB/N.
      Tissue: Salivary gland.
    2. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Strain: C57BL/6J.
      Tissue: Adipose tissue.
    3. "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].
      Strain: FVB/N.
      Tissue: Salivary gland.
    4. "NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter."
      Goytain A., Hines R.M., El-Husseini A., Quamme G.A.
      J. Biol. Chem. 282:8060-8068(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, INDUCTION, TISSUE SPECIFICITY, SUBUNIT, BIOPHYSICOCHEMICAL PROPERTIES, MUTAGENESIS OF THR-39 AND GLY-100.

    Entry informationi

    Entry nameiNIPA1_MOUSE
    AccessioniPrimary (citable) accession number: Q8BHK1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 30, 2005
    Last sequence update: March 1, 2003
    Last modified: October 1, 2014
    This is version 78 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3