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Q8BHK1

- NIPA1_MOUSE

UniProt

Q8BHK1 - NIPA1_MOUSE

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Protein

Magnesium transporter NIPA1

Gene

Nipa1

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

Topology

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

MaxQBiQ8BHK1.
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

BgeeiQ8BHK1.
ExpressionAtlasiQ8BHK1. baseline and differential.
GenevestigatoriQ8BHK1.

Interactioni

Subunit structurei

Homodimer.Curated

Structurei

3D structure databases

ProteinModelPortaliQ8BHK1.
ModBaseiSearch...
MobiDBiSearch...

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

« Hide

        10         20         30         40         50
MGTAAAAAAA GEGARGPSPA AVSLGLGVAV VSSLVNGSTF VLQKKGIVRA
60 70 80 90 100
KRRGTSYLTD IVWWAGTIAM AVGQIGNFLA YTAVPTVLVT PLGALGVPFG
110 120 130 140 150
SILASYLLKE KLNILGKLGC LLSCAGSVVL IIHSPKSESV TTQAELEEKL
160 170 180 190 200
TNPVFVGYLC IVLLMLLLLI FWIAPAHGPT NIMVYISICS LLGSFTVPST
210 220 230 240 250
KGIGLAAQDI LHNNPSSQRA LCLCLVLLAV LGCSIIVQFR YINKALECFD
260 270 280 290 300
SSVFGAIYYV VFTTLVLLAS AILFREWSNV GLVDFLGMAC GFTTVSVGIV
310 320
LIQVFKEFNF NLGEMNKSNM KTD
Length:323
Mass (Da):34,105
Last modified:March 1, 2003 - v1
Checksum:i0F5C2A35559A27E1
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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

MaxQBi Q8BHK1.
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

Bgeei Q8BHK1.
ExpressionAtlasi Q8BHK1. baseline and differential.
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: October 29, 2014
This is version 79 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