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Q7RTP0

- NIPA1_HUMAN

UniProt

Q7RTP0 - NIPA1_HUMAN

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Protein

Magnesium transporter NIPA1

Gene

NIPA1

Organism
Homo sapiens (Human)
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+ (By similarity).By similarity

GO - Molecular functioni

  1. magnesium ion transmembrane transporter activity Source: InterPro

GO - Biological processi

  1. cell death Source: UniProtKB-KW
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2727ExtracellularSequence AnalysisAdd
BLAST
Transmembranei28 – 4821HelicalSequence AnalysisAdd
BLAST
Topological domaini49 – 6618CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei67 – 8721HelicalSequence AnalysisAdd
BLAST
Topological domaini88 – 881ExtracellularSequence Analysis
Transmembranei89 – 10921HelicalSequence AnalysisAdd
BLAST
Topological domaini110 – 1178CytoplasmicSequence Analysis
Transmembranei118 – 13821HelicalSequence AnalysisAdd
BLAST
Topological domaini139 – 15921ExtracellularSequence AnalysisAdd
BLAST
Transmembranei160 – 18021HelicalSequence AnalysisAdd
BLAST
Topological domaini181 – 1833CytoplasmicSequence Analysis
Transmembranei184 – 20421HelicalSequence AnalysisAdd
BLAST
Topological domaini205 – 22420ExtracellularSequence AnalysisAdd
BLAST
Transmembranei225 – 24521HelicalSequence AnalysisAdd
BLAST
Topological domaini246 – 25914CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei260 – 28021HelicalSequence AnalysisAdd
BLAST
Topological domaini281 – 29010ExtracellularSequence Analysis
Transmembranei291 – 31121HelicalSequence AnalysisAdd
BLAST
Topological domaini312 – 32918CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

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

BgeeiQ7RTP0.
CleanExiHS_NIPA1.
ExpressionAtlasiQ7RTP0. baseline and differential.
GenevestigatoriQ7RTP0.

Organism-specific databases

HPAiHPA023269.

Interactioni

Subunit structurei

Homodimer.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000337452.

Structurei

3D structure databases

ProteinModelPortaliQ7RTP0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the NIPA family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG287598.
GeneTreeiENSGT00550000074395.
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

        10         20         30         40         50
MGTAAAAAAA AAAAAAGEGA RSPSPAAVSL GLGVAVVSSL VNGSTFVLQK
60 70 80 90 100
KGIVRAKRRG TSYLTDIVWW AGTIAMAVGQ IGNFLAYTAV PTVLVTPLGA
110 120 130 140 150
LGVPFGSILA SYLLKEKLNI LGKLGCLLSC AGSVVLIIHS PKSESVTTQA
160 170 180 190 200
ELEEKLTNPV FVGYLCIVLL MLLLLIFWIA PAHGPTNIMV YISICSLLGS
210 220 230 240 250
FTVPSTKGIG LAAQDILHNN PSSQRALCLC LVLLAVLGCS IIVQFRYINK
260 270 280 290 300
ALECFDSSVF GAIYYVVFTT LVLLASAILF REWSNVGLVD FLGMACGFTT
310 320
VSVGIVLIQV FKEFNFNLGE MNKSNMKTD
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.Curated
The sequence BAC67707.1 differs from that shown. Reason: Erroneous initiation. Curated

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:
EMBLi
GenBanki
DDBJi
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.
CCDSiCCDS73691.1. [Q7RTP0-1]
CCDS73692.1. [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:
EMBLi
GenBanki
DDBJi
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 CCDS73691.1. [Q7RTP0-1 ]
CCDS73692.1. [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.
GeneTreei ENSGT00550000074395.
HOGENOMi HOG000203962.
HOVERGENi HBG055032.
InParanoidi Q7RTP0.
OMAi IQFRYIN.
OrthoDBi EOG73BVD7.
PhylomeDBi Q7RTP0.
TreeFami TF313214.

Miscellaneous databases

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

Gene expression databases

Bgeei Q7RTP0.
CleanExi HS_NIPA1.
ExpressionAtlasi Q7RTP0. baseline and differential.
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

« 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] (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: November 26, 2014
This is version 99 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