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Q8BHK1

- NIPA1_MOUSE

UniProt

Q8BHK1 - NIPA1_MOUSE

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Protein

Magnesium transporter NIPA1

Gene
Nipa1, Spg6
Organism
Mus musculus (Mouse)
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 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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2121Extracellular Reviewed predictionAdd
BLAST
Transmembranei22 – 4221Helical; Reviewed predictionAdd
BLAST
Topological domaini43 – 6018Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei61 – 8121Helical; Reviewed predictionAdd
BLAST
Topological domaini82 – 821Extracellular Reviewed prediction
Transmembranei83 – 10321Helical; Reviewed predictionAdd
BLAST
Topological domaini104 – 1118Cytoplasmic Reviewed prediction
Transmembranei112 – 13221Helical; Reviewed predictionAdd
BLAST
Topological domaini133 – 15321Extracellular Reviewed predictionAdd
BLAST
Transmembranei154 – 17421Helical; Reviewed predictionAdd
BLAST
Topological domaini175 – 1773Cytoplasmic Reviewed prediction
Transmembranei178 – 19821Helical; Reviewed predictionAdd
BLAST
Topological domaini199 – 21820Extracellular Reviewed predictionAdd
BLAST
Transmembranei219 – 23921Helical; Reviewed predictionAdd
BLAST
Topological domaini240 – 25314Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei254 – 27421Helical; Reviewed predictionAdd
BLAST
Topological domaini275 – 28410Extracellular Reviewed prediction
Transmembranei285 – 30521Helical; Reviewed predictionAdd
BLAST
Topological domaini306 – 32318Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

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

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 Reviewed prediction.1 Publication

Structurei

3D structure databases

ProteinModelPortaliQ8BHK1.

Family & Domainsi

Sequence similaritiesi

Belongs to the NIPA family.

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

« Hide

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 77 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

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