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Q8BHK1 (NIPA1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 3, 2013. Version 70. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
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to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Magnesium transporter NIPA1
Alternative name(s):
Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 homolog
Gene names
Name:Nipa1
Synonyms:Spg6
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length323 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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+. Ref.4

Subunit structure

Homodimer Potential. Ref.4

Subcellular location

Cell membrane; Multi-pass membrane protein Potential. Early endosome. Note: Recruited to the cell membrane in response to low extracellular magnesium. Ref.4

Tissue specificity

Widely expressed. Predominantly expressed in neuronal tissues. Brain, heart, kidney, liver and colon (at protein level). Ref.1 Ref.4

Induction

Up-regulated by low magnesium ion levels. Ref.4

Sequence similarities

Belongs to the NIPA family.

Biophysicochemical properties

Kinetic parameters:

KM=0.69 mM for magnesium ions Ref.4

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentCell membrane
Endosome
Membrane
   DomainTransmembrane
Transmembrane helix
   LigandMagnesium
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmagnesium ion transport

Inferred from direct assay Ref.4. Source: UniProtKB

   Cellular_componentearly endosome

Inferred from direct assay Ref.4. Source: UniProtKB

integral to membrane

Inferred from electronic annotation. Source: UniProtKB-KW

plasma membrane

Inferred from direct assay Ref.4. Source: UniProtKB

   Molecular_functionmagnesium ion transmembrane transporter activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 323323Magnesium transporter NIPA1
PRO_0000191742

Regions

Topological domain1 – 2121Extracellular Potential
Transmembrane22 – 4221Helical; Potential
Topological domain43 – 6018Cytoplasmic Potential
Transmembrane61 – 8121Helical; Potential
Topological domain821Extracellular Potential
Transmembrane83 – 10321Helical; Potential
Topological domain104 – 1118Cytoplasmic Potential
Transmembrane112 – 13221Helical; Potential
Topological domain133 – 15321Extracellular Potential
Transmembrane154 – 17421Helical; Potential
Topological domain175 – 1773Cytoplasmic Potential
Transmembrane178 – 19821Helical; Potential
Topological domain199 – 21820Extracellular Potential
Transmembrane219 – 23921Helical; Potential
Topological domain240 – 25314Cytoplasmic Potential
Transmembrane254 – 27421Helical; Potential
Topological domain275 – 28410Extracellular Potential
Transmembrane285 – 30521Helical; Potential
Topological domain306 – 32318Cytoplasmic Potential

Experimental info

Mutagenesis391T → R: Failure to correctly traffic to the cell membrane and diminished Mg(2+) transport. Ref.4
Mutagenesis1001G → R: Failure to correctly traffic to the cell membrane and complete loss of Mg(2+) transport. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q8BHK1 [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: 0F5C2A35559A27E1

FASTA32334,105
        10         20         30         40         50         60 
MGTAAAAAAA GEGARGPSPA AVSLGLGVAV VSSLVNGSTF VLQKKGIVRA KRRGTSYLTD 

        70         80         90        100        110        120 
IVWWAGTIAM AVGQIGNFLA YTAVPTVLVT PLGALGVPFG SILASYLLKE KLNILGKLGC 

       130        140        150        160        170        180 
LLSCAGSVVL IIHSPKSESV TTQAELEEKL TNPVFVGYLC IVLLMLLLLI FWIAPAHGPT 

       190        200        210        220        230        240 
NIMVYISICS LLGSFTVPST KGIGLAAQDI LHNNPSSQRA LCLCLVLLAV LGCSIIVQFR 

       250        260        270        280        290        300 
YINKALECFD SSVFGAIYYV VFTTLVLLAS AILFREWSNV GLVDFLGMAC GFTTVSVGIV 

       310        320 
LIQVFKEFNF NLGEMNKSNM KTD

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ		AY098645 mRNA. Translation: AAM34534.1.
AK046619 mRNA. Translation: BAC32809.1.
BC055828 mRNA. Translation: AAH55828.1.
IPIIPI00221884.
RefSeqNP_705806.1. NM_153578.2.
UniGeneMm.389901.
Mm.443911.

3D structure databases

ProteinModelPortalQ8BHK1.
ModBaseSearch...

PTM databases

PhosphoSiteQ8BHK1.

Proteomic databases

PRIDEQ8BHK1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000052204; ENSMUSP00000053871; ENSMUSG00000047037.
GeneID233280.
KEGGmmu:233280.
UCSCuc009hdu.1. mouse.

Organism-specific databases

CTD123606.
MGIMGI:2442058. Nipa1.

Phylogenomic databases

eggNOGNOG287598.
GeneTreeENSGT00550000074395.
HOGENOMHOG000203962.
HOVERGENHBG055032.
InParanoidQ8BHK1.
OMANPVFVGY.
OrthoDBEOG45DWQD.

Gene expression databases

ArrayExpressQ8BHK1.
BgeeQ8BHK1.
GenevestigatorQ8BHK1.
GermOnlineENSMUSG00000047037. Mus musculus.

Family and domain databases

InterProIPR008521. Mg_trans_NIPA.
[Graphical view]
PANTHERPTHR12570. PTHR12570. 1 hit.
PfamPF05653. Mg_trans_NIPA. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio381665.
SOURCESearch...

Entry information

Entry nameNIPA1_MOUSE
AccessionPrimary (citable) accession number: Q8BHK1
Entry history
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: March 1, 2003
Last modified: April 3, 2013
This is version 70 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents