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Q7RTP0

- NIPA1_HUMAN

UniProt

Q7RTP0 - NIPA1_HUMAN

Protein

Magnesium transporter NIPA1

Gene

NIPA1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 97 (01 Oct 2014)
      Sequence version 1 (15 Dec 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+ By similarity.By similarity

    GO - Molecular functioni

    1. magnesium ion transmembrane transporter activity Source: InterPro

    GO - Biological processi

    1. cell death Source: UniProtKB-KW

    Keywords - Biological processi

    Ion transport, Transport

    Keywords - Ligandi

    Magnesium

    Protein family/group databases

    TCDBi2.A.7.25.1. the drug/metabolite transporter (dmt) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Magnesium transporter NIPA1
    Alternative name(s):
    Non-imprinted in Prader-Willi/Angelman syndrome region protein 1
    Spastic paraplegia 6 protein
    Gene namesi
    Name:NIPA1
    Synonyms:SPG6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:17043. NIPA1.

    Subcellular locationi

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

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Cell membrane, Endosome, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Spastic paraplegia 6, autosomal dominant (SPG6) [MIM:600363]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti45 – 451T → R in SPG6. 1 Publication
    VAR_023440
    Natural varianti106 – 1061G → R in SPG6. 1 Publication
    VAR_023441

    Keywords - Diseasei

    Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

    Organism-specific databases

    MIMi600363. phenotype.
    Orphaneti100988. Autosomal dominant spastic paraplegia type 6.
    PharmGKBiPA134967361.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 329329Magnesium transporter NIPA1PRO_0000191741Add
    BLAST

    Proteomic databases

    MaxQBiQ7RTP0.
    PaxDbiQ7RTP0.
    PRIDEiQ7RTP0.

    PTM databases

    PhosphoSiteiQ7RTP0.

    Expressioni

    Tissue specificityi

    Widely expressed with highest levels in neuronal tissues.1 Publication

    Gene expression databases

    ArrayExpressiQ7RTP0.
    BgeeiQ7RTP0.
    CleanExiHS_NIPA1.
    GenevestigatoriQ7RTP0.

    Organism-specific databases

    HPAiHPA023269.

    Interactioni

    Subunit structurei

    Homodimer.By similarity

    Protein-protein interaction databases

    STRINGi9606.ENSP00000337452.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7RTP0.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2727ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini49 – 6618CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini88 – 881ExtracellularSequence Analysis
    Topological domaini110 – 1178CytoplasmicSequence Analysis
    Topological domaini139 – 15921ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini181 – 1833CytoplasmicSequence Analysis
    Topological domaini205 – 22420ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini246 – 25914CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini281 – 29010ExtracellularSequence Analysis
    Topological domaini312 – 32918CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei28 – 4821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei67 – 8721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei89 – 10921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei118 – 13821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei160 – 18021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei184 – 20421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei225 – 24521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei260 – 28021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei291 – 31121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the NIPA family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG287598.
    HOGENOMiHOG000203962.
    HOVERGENiHBG055032.
    InParanoidiQ7RTP0.
    OMAiIQFRYIN.
    OrthoDBiEOG73BVD7.
    PhylomeDBiQ7RTP0.
    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: Q7RTP0-1) [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

    MGTAAAAAAA AAAAAAGEGA RSPSPAAVSL GLGVAVVSSL VNGSTFVLQK    50
    KGIVRAKRRG TSYLTDIVWW AGTIAMAVGQ IGNFLAYTAV PTVLVTPLGA 100
    LGVPFGSILA SYLLKEKLNI LGKLGCLLSC AGSVVLIIHS PKSESVTTQA 150
    ELEEKLTNPV FVGYLCIVLL MLLLLIFWIA PAHGPTNIMV YISICSLLGS 200
    FTVPSTKGIG LAAQDILHNN PSSQRALCLC LVLLAVLGCS IIVQFRYINK 250
    ALECFDSSVF GAIYYVVFTT LVLLASAILF REWSNVGLVD FLGMACGFTT 300
    VSVGIVLIQV FKEFNFNLGE MNKSNMKTD 329
    Length:329
    Mass (Da):34,562
    Last modified:December 15, 2003 - v1
    Checksum:i88B7506C93457A12
    GO
    Isoform 2 (identifier: Q7RTP0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-75: Missing.

    Show »
    Length:254
    Mass (Da):27,310
    Checksum:iFCDF5586AAADACFE
    GO

    Sequence cautioni

    The sequence BAC67707.1 differs from that shown. Reason: Contaminating sequence. Sequence of unknown origin in the N-terminal part.
    The sequence BAC67707.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti45 – 451T → R in SPG6. 1 Publication
    VAR_023440
    Natural varianti106 – 1061G → R in SPG6. 1 Publication
    VAR_023441

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 7575Missing in isoform 2. 2 PublicationsVSP_017189Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BK001020 mRNA. Translation: DAA01477.1.
    CR614719 mRNA. No translation available.
    AK314073 mRNA. Translation: BAG36773.1.
    BX537997 mRNA. Translation: CAD97953.1.
    BX648722 mRNA. Translation: CAI45979.2.
    CH471258 Genomic DNA. Translation: EAW65549.1.
    AB089319 mRNA. Translation: BAC67707.1. Different initiation.
    CCDSiCCDS10011.1. [Q7RTP0-1]
    CCDS45190.1. [Q7RTP0-2]
    RefSeqiNP_001135747.1. NM_001142275.1. [Q7RTP0-2]
    NP_653200.2. NM_144599.4. [Q7RTP0-1]
    UniGeneiHs.511797.

    Genome annotation databases

    EnsembliENST00000337435; ENSP00000337452; ENSG00000170113. [Q7RTP0-1]
    ENST00000437912; ENSP00000393962; ENSG00000170113. [Q7RTP0-2]
    ENST00000561183; ENSP00000453722; ENSG00000170113. [Q7RTP0-2]
    GeneIDi123606.
    KEGGihsa:123606.
    UCSCiuc001yvc.3. human. [Q7RTP0-1]

    Polymorphism databases

    DMDMi73921215.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BK001020 mRNA. Translation: DAA01477.1 .
    CR614719 mRNA. No translation available.
    AK314073 mRNA. Translation: BAG36773.1 .
    BX537997 mRNA. Translation: CAD97953.1 .
    BX648722 mRNA. Translation: CAI45979.2 .
    CH471258 Genomic DNA. Translation: EAW65549.1 .
    AB089319 mRNA. Translation: BAC67707.1 . Different initiation.
    CCDSi CCDS10011.1. [Q7RTP0-1 ]
    CCDS45190.1. [Q7RTP0-2 ]
    RefSeqi NP_001135747.1. NM_001142275.1. [Q7RTP0-2 ]
    NP_653200.2. NM_144599.4. [Q7RTP0-1 ]
    UniGenei Hs.511797.

    3D structure databases

    ProteinModelPortali Q7RTP0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000337452.

    Protein family/group databases

    TCDBi 2.A.7.25.1. the drug/metabolite transporter (dmt) superfamily.

    PTM databases

    PhosphoSitei Q7RTP0.

    Polymorphism databases

    DMDMi 73921215.

    Proteomic databases

    MaxQBi Q7RTP0.
    PaxDbi Q7RTP0.
    PRIDEi Q7RTP0.

    Protocols and materials databases

    DNASUi 123606.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000337435 ; ENSP00000337452 ; ENSG00000170113 . [Q7RTP0-1 ]
    ENST00000437912 ; ENSP00000393962 ; ENSG00000170113 . [Q7RTP0-2 ]
    ENST00000561183 ; ENSP00000453722 ; ENSG00000170113 . [Q7RTP0-2 ]
    GeneIDi 123606.
    KEGGi hsa:123606.
    UCSCi uc001yvc.3. human. [Q7RTP0-1 ]

    Organism-specific databases

    CTDi 123606.
    GeneCardsi GC15M023043.
    HGNCi HGNC:17043. NIPA1.
    HPAi HPA023269.
    MIMi 600363. phenotype.
    608145. gene.
    neXtProti NX_Q7RTP0.
    Orphaneti 100988. Autosomal dominant spastic paraplegia type 6.
    PharmGKBi PA134967361.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG287598.
    HOGENOMi HOG000203962.
    HOVERGENi HBG055032.
    InParanoidi Q7RTP0.
    OMAi IQFRYIN.
    OrthoDBi EOG73BVD7.
    PhylomeDBi Q7RTP0.
    TreeFami TF313214.

    Miscellaneous databases

    GeneWikii NIPA1.
    GenomeRNAii 123606.
    NextBioi 81115.
    PROi Q7RTP0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q7RTP0.
    Bgeei Q7RTP0.
    CleanExi HS_NIPA1.
    Genevestigatori Q7RTP0.

    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] (ISOFORM 1).
    2. "Full-length cDNA libraries and normalization."
      Li W.B., Gruber C., Jessee J., Polayes D.
      Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    3. "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: Brain.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Amygdala and Spinal cord.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "Analysis of mRNA with microsomal fractionation using a SAGE-based DNA microarray system facilitates identification of the genes encoding secretory proteins."
      Toyoda N., Nagai S., Terashima Y., Motomura K., Haino M., Hashimoto S., Takizawa H., Matsushima K.
      Genome Res. 13:1728-1736(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 163-329 (ISOFORMS 1/2).
    7. "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
      Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
      J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-322.
      Tissue: Plasma.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)."
      Rainier S., Chai J.-H., Tokarz D., Nicholls R.D., Fink J.K.
      Am. J. Hum. Genet. 73:967-971(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SPG6 ARG-45, TISSUE SPECIFICITY.
    10. "Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families."
      Chen S., Song C., Guo H., Xu P., Huang W., Zhou Y., Sun J., Li C.X., Du Y., Li X., Liu Z., Geng D., Maxwell P.H., Zhang C., Wang Y.
      Hum. Mutat. 25:135-141(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SPG6 ARG-106.

    Entry informationi

    Entry nameiNIPA1_HUMAN
    AccessioniPrimary (citable) accession number: Q7RTP0
    Secondary accession number(s): B2RA76
    , Q5HYA9, Q7KZB0, Q86XW4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 30, 2005
    Last sequence update: December 15, 2003
    Last modified: October 1, 2014
    This is version 97 of the entry and version 1 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 15
      Human chromosome 15: 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