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Q8N8Q9 (NIPA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 89. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | 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 NIPA2
Alternative name(s):
Non-imprinted in Prader-Willi/Angelman syndrome region protein 2
Gene names
Name:NIPA2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length360 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Acts as a selective Mg2+ transporter 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. Ref.1

Sequence similarities

Belongs to the NIPA family.

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentCell membrane
Endosome
Membrane
   Coding sequence diversityAlternative splicing
   DomainTransmembrane
Transmembrane helix
   LigandMagnesium
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentearly endosome

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionmagnesium ion transmembrane transporter activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N8Q9-1)

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: Q8N8Q9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     47-66: GQGGHAYLKEWLWWAGLLSM → V
Note: Not experimental evidence available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 360360Magnesium transporter NIPA2
PRO_0000191743

Regions

Topological domain1 – 99Extracellular Potential
Transmembrane10 – 3021Helical; Potential
Topological domain31 – 5626Cytoplasmic Potential
Transmembrane57 – 7721Helical; Potential
Topological domain781Extracellular Potential
Transmembrane79 – 9921Helical; Potential
Topological domain100 – 1078Cytoplasmic Potential
Transmembrane108 – 12821Helical; Potential
Topological domain129 – 14921Extracellular Potential
Transmembrane150 – 17021Helical; Potential
Topological domain171 – 1755Cytoplasmic Potential
Transmembrane176 – 19621Helical; Potential
Topological domain197 – 21519Extracellular Potential
Transmembrane216 – 23621Helical; Potential
Topological domain237 – 24610Cytoplasmic Potential
Transmembrane247 – 26721Helical; Potential
Topological domain268 – 27811Extracellular Potential
Transmembrane279 – 29921Helical; Potential
Topological domain300 – 36061Cytoplasmic Potential

Natural variations

Alternative sequence47 – 6620GQGGH…GLLSM → V in isoform 2.
VSP_044587

Experimental info

Sequence conflict3031S → G in AAU34000. Ref.2
Sequence conflict3031S → G in AAH11775. Ref.6

Sequences

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

Last modified October 1, 2002. Version 1.
Checksum: A8ED640DA7AF7F4B

FASTA36039,185
        10         20         30         40         50         60 
MSQGRGKYDF YIGLGLAMSS SIFIGGSFIL KKKGLLRLAR KGSMRAGQGG HAYLKEWLWW 

        70         80         90        100        110        120 
AGLLSMGAGE VANFAAYAFA PATLVTPLGA LSVLVSAILS SYFLNERLNL HGKIGCLLSI 

       130        140        150        160        170        180 
LGSTVMVIHA PKEEEIETLN EMSHKLGDPG FVVFATLVVI VALILIFVVG PRHGQTNILV 

       190        200        210        220        230        240 
YITICSVIGA FSVSCVKGLG IAIKELFAGK PVLRHPLAWI LLLSLIVCVS TQINYLNRAL 

       250        260        270        280        290        300 
DIFNTSIVTP IYYVFFTTSV LTCSAILFKE WQDMPVDDVI GTLSGFFTII VGIFLLHAFK 

       310        320        330        340        350        360 
DVSFSLASLP VSFRKDEKAM NGNLSNMYEV LNNNEESLTC GIEQHTGENV SRRNGNLTAF 

« Hide

Isoform 2 [UniParc].

Checksum: 893B0E54C8CEA4E3
Show »

FASTA34136,999

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), TISSUE SPECIFICITY.
[2]"Non-imprinted transcript from the Prader-Willi syndrome region."
Jiang Y.-H., Beaudet A.L.
Submitted (AUG-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [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] (ISOFORMS 1 AND 2).
Tissue: Small intestine.
[4]"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).
Tissue: B-cell.
[5]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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] (ISOFORM 1).
Tissue: Pancreas and Placenta.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
BK001120 mRNA. Translation: DAA01509.1.
AY732242 mRNA. Translation: AAU34000.1.
AK096305 mRNA. Translation: BAC04757.1.
AK300843 mRNA. Translation: BAG62494.1.
CR606982 mRNA. No translation available.
AC011767 Genomic DNA. No translation available.
BC000957 mRNA. Translation: AAH00957.3.
BC011775 mRNA. Translation: AAH11775.1.
RefSeqNP_001008860.1. NM_001008860.2.
NP_001008892.1. NM_001008892.2.
NP_001008894.1. NM_001008894.2.
NP_001171817.1. NM_001184888.1.
NP_001171818.1. NM_001184889.1.
NP_112184.4. NM_030922.6.
XP_005272603.1. XM_005272546.2.
XP_005272604.1. XM_005272547.2.
XP_005272605.1. XM_005272548.2.
XP_005272606.1. XM_005272549.2.
XP_005272607.1. XM_005272550.2.
XP_005272609.1. XM_005272552.2.
XP_005272610.1. XM_005272553.2.
UniGeneHs.591003.

3D structure databases

ProteinModelPortalQ8N8Q9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123549. 2 interactions.
STRING9606.ENSP00000337618.

Protein family/group databases

TCDB2.A.7.25.2. the drug/metabolite transporter (dmt) superfamily.

PTM databases

PhosphoSiteQ8N8Q9.

Polymorphism databases

DMDM73921217.

Proteomic databases

PaxDbQ8N8Q9.
PRIDEQ8N8Q9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000337451; ENSP00000337618; ENSG00000140157. [Q8N8Q9-1]
ENST00000359727; ENSP00000352762; ENSG00000140157. [Q8N8Q9-2]
ENST00000398013; ENSP00000381095; ENSG00000140157. [Q8N8Q9-1]
ENST00000398014; ENSP00000381096; ENSG00000140157. [Q8N8Q9-1]
ENST00000539711; ENSP00000437746; ENSG00000140157. [Q8N8Q9-2]
GeneID81614.
KEGGhsa:81614.
UCSCuc001yux.3. human. [Q8N8Q9-1]
uc001yva.3. human.

Organism-specific databases

CTD81614.
GeneCardsGC15M023004.
HGNCHGNC:17044. NIPA2.
MIM608146. gene.
neXtProtNX_Q8N8Q9.
PharmGKBPA134911294.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG298616.
HOGENOMHOG000203962.
HOVERGENHBG055032.
InParanoidQ8N8Q9.
OMADQFDTSI.
OrthoDBEOG73BVD7.
PhylomeDBQ8N8Q9.
TreeFamTF313214.

Gene expression databases

ArrayExpressQ8N8Q9.
BgeeQ8N8Q9.
CleanExHS_NIPA2.
GenevestigatorQ8N8Q9.

Family and domain databases

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

Other

GeneWikiNIPA2.
GenomeRNAi81614.
NextBio71944.
PROQ8N8Q9.
SOURCESearch...

Entry information

Entry nameNIPA2_HUMAN
AccessionPrimary (citable) accession number: Q8N8Q9
Secondary accession number(s): F8W7Y8, Q96F03, Q9BVS2
Entry history
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: October 1, 2002
Last modified: April 16, 2014
This is version 89 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 chromosome 15

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