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Q7RTP0 (NIPA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·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
Spastic paraplegia 6 protein
Gene names
Name:NIPA1
Synonyms:SPG6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length329 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+ By similarity.

Subunit structure

Homodimer By similarity.

Subcellular location

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

Tissue specificity

Widely expressed with highest levels in neuronal tissues. Ref.9

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.10

Sequence similarities

Belongs to the NIPA family.

Sequence caution

The sequence BAC67707.1 differs from that shown. Reason: Erroneous initiation.

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

Ontologies

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7RTP0-1)

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.
Isoform 2 (identifier: Q7RTP0-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 329329Magnesium transporter NIPA1
PRO_0000191741

Regions

Topological domain1 – 2727Extracellular Potential
Transmembrane28 – 4821Helical; Potential
Topological domain49 – 6618Cytoplasmic Potential
Transmembrane67 – 8721Helical; Potential
Topological domain881Extracellular Potential
Transmembrane89 – 10921Helical; Potential
Topological domain110 – 1178Cytoplasmic Potential
Transmembrane118 – 13821Helical; Potential
Topological domain139 – 15921Extracellular Potential
Transmembrane160 – 18021Helical; Potential
Topological domain181 – 1833Cytoplasmic Potential
Transmembrane184 – 20421Helical; Potential
Topological domain205 – 22420Extracellular Potential
Transmembrane225 – 24521Helical; Potential
Topological domain246 – 25914Cytoplasmic Potential
Transmembrane260 – 28021Helical; Potential
Topological domain281 – 29010Extracellular Potential
Transmembrane291 – 31121Helical; Potential
Topological domain312 – 32918Cytoplasmic Potential

Natural variations

Alternative sequence1 – 7575Missing in isoform 2.
VSP_017189
Natural variant451T → R in SPG6. Ref.9
VAR_023440
Natural variant1061G → R in SPG6. Ref.10
VAR_023441

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 15, 2003. Version 1.
Checksum: 88B7506C93457A12

FASTA32934,562
        10         20         30         40         50         60 
MGTAAAAAAA AAAAAAGEGA RSPSPAAVSL GLGVAVVSSL VNGSTFVLQK KGIVRAKRRG 

        70         80         90        100        110        120 
TSYLTDIVWW AGTIAMAVGQ IGNFLAYTAV PTVLVTPLGA LGVPFGSILA SYLLKEKLNI 

       130        140        150        160        170        180 
LGKLGCLLSC AGSVVLIIHS PKSESVTTQA ELEEKLTNPV FVGYLCIVLL MLLLLIFWIA 

       190        200        210        220        230        240 
PAHGPTNIMV YISICSLLGS FTVPSTKGIG LAAQDILHNN PSSQRALCLC LVLLAVLGCS 

       250        260        270        280        290        300 
IIVQFRYINK ALECFDSSVF GAIYYVVFTT LVLLASAILF REWSNVGLVD FLGMACGFTT 

       310        320 
VSVGIVLIQV FKEFNFNLGE MNKSNMKTD 

« Hide

Isoform 2 [UniParc].

Checksum: FCDF5586AAADACFE
Show »

FASTA25427,310

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] (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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Amygdala and Spinal cord.
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS10011.1. [Q7RTP0-1]
CCDS45190.1. [Q7RTP0-2]
RefSeqNP_001135747.1. NM_001142275.1. [Q7RTP0-2]
NP_653200.2. NM_144599.4. [Q7RTP0-1]
UniGeneHs.511797.

3D structure databases

ProteinModelPortalQ7RTP0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000337452.

Protein family/group databases

TCDB2.A.7.25.1. the drug/metabolite transporter (dmt) superfamily.

PTM databases

PhosphoSiteQ7RTP0.

Polymorphism databases

DMDM73921215.

Proteomic databases

MaxQBQ7RTP0.
PaxDbQ7RTP0.
PRIDEQ7RTP0.

Protocols and materials databases

DNASU123606.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000337435; ENSP00000337452; ENSG00000170113. [Q7RTP0-1]
ENST00000437912; ENSP00000393962; ENSG00000170113. [Q7RTP0-2]
ENST00000561183; ENSP00000453722; ENSG00000170113. [Q7RTP0-2]
GeneID123606.
KEGGhsa:123606.
UCSCuc001yvc.3. human. [Q7RTP0-1]

Organism-specific databases

CTD123606.
GeneCardsGC15M023043.
HGNCHGNC:17043. NIPA1.
HPAHPA023269.
MIM600363. phenotype.
608145. gene.
neXtProtNX_Q7RTP0.
Orphanet100988. Autosomal dominant spastic paraplegia type 6.
PharmGKBPA134967361.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG287598.
HOGENOMHOG000203962.
HOVERGENHBG055032.
InParanoidQ7RTP0.
OMAIQFRYIN.
OrthoDBEOG73BVD7.
PhylomeDBQ7RTP0.
TreeFamTF313214.

Gene expression databases

ArrayExpressQ7RTP0.
BgeeQ7RTP0.
CleanExHS_NIPA1.
GenevestigatorQ7RTP0.

Family and domain databases

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

Other

GeneWikiNIPA1.
GenomeRNAi123606.
NextBio81115.
PROQ7RTP0.
SOURCESearch...

Entry information

Entry nameNIPA1_HUMAN
AccessionPrimary (citable) accession number: Q7RTP0
Secondary accession number(s): B2RA76 expand/collapse secondary AC list , Q5HYA9, Q7KZB0, Q86XW4
Entry history
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: December 15, 2003
Last modified: July 9, 2014
This is version 96 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM