Q8N8Q9 (NIPA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Magnesium transporter NIPA2

Alternative name(s):
Non-imprinted in Prader-Willi/Angelman syndrome region protein 2

Gene names

Name:

NIPA2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	360 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Ion transport Transport
Cellular component	Cell membrane Endosome Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
Ligand	Magnesium
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	early endosome Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	magnesium 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 360	360	Magnesium transporter NIPA2		PRO_0000191743
Regions
	Topological domain	1 – 9	9	Extracellular Potential
	Transmembrane	10 – 30	21	Helical; Potential
	Topological domain	31 – 56	26	Cytoplasmic Potential
	Transmembrane	57 – 77	21	Helical; Potential
	Topological domain	78	1	Extracellular Potential
	Transmembrane	79 – 99	21	Helical; Potential
	Topological domain	100 – 107	8	Cytoplasmic Potential
	Transmembrane	108 – 128	21	Helical; Potential
	Topological domain	129 – 149	21	Extracellular Potential
	Transmembrane	150 – 170	21	Helical; Potential
	Topological domain	171 – 175	5	Cytoplasmic Potential
	Transmembrane	176 – 196	21	Helical; Potential
	Topological domain	197 – 215	19	Extracellular Potential
	Transmembrane	216 – 236	21	Helical; Potential
	Topological domain	237 – 246	10	Cytoplasmic Potential
	Transmembrane	247 – 267	21	Helical; Potential
	Topological domain	268 – 278	11	Extracellular Potential
	Transmembrane	279 – 299	21	Helical; Potential
	Topological domain	300 – 360	61	Cytoplasmic Potential
Natural variations
	Alternative sequence	47 – 66	20	GQGGH…GLLSM → V in isoform 2.		VSP_044587
Experimental info
	Sequence conflict	303	1	S → G in AAU34000. Ref.2
	Sequence conflict	303	1	S → G in AAH11775. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: A8ED640DA7AF7F4B	FASTA	360	39,185
	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
	Isoform 2 [UniParc]. Checksum: 893B0E54C8CEA4E3	FASTA	341	36,999
	10 20 30 40 50 60 MSQGRGKYDF YIGLGLAMSS SIFIGGSFIL KKKGLLRLAR KGSMRAVGAG EVANFAAYAF 70 80 90 100 110 120 APATLVTPLG ALSVLVSAIL SSYFLNERLN LHGKIGCLLS ILGSTVMVIH APKEEEIETL 130 140 150 160 170 180 NEMSHKLGDP GFVVFATLVV IVALILIFVV GPRHGQTNIL VYITICSVIG AFSVSCVKGL 190 200 210 220 230 240 GIAIKELFAG KPVLRHPLAW ILLLSLIVCV STQINYLNRA LDIFNTSIVT PIYYVFFTTS 250 260 270 280 290 300 VLTCSAILFK EWQDMPVDDV IGTLSGFFTI IVGIFLLHAF KDVSFSLASL PVSFRKDEKA 310 320 330 340 MNGNLSNMYE VLNNNEESLT CGIEQHTGEN VSRRNGNLTA F

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00329480. IPI00549279.
RefSeq	NP_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.
UniGene	Hs.591003.
3D structure databases
ProteinModelPortal	Q8N8Q9.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000337618.
Protein family/group databases
TCDB	2.A.7.25.2. drug/metabolite transporter (DMT) superfamily.
PTM databases
PhosphoSite	Q8N8Q9.
Polymorphism databases
DMDM	73921217.
Proteomic databases
PaxDb	Q8N8Q9.
PRIDE	Q8N8Q9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000337451; ENSP00000337618; ENSG00000140157. ENST00000359727; ENSP00000352762; ENSG00000140157. ENST00000398013; ENSP00000381095; ENSG00000140157. ENST00000398014; ENSP00000381096; ENSG00000140157. ENST00000539711; ENSP00000437746; ENSG00000140157.
GeneID	81614.
KEGG	hsa:81614.
UCSC	uc001yux.3. human.
Organism-specific databases
CTD	81614.
GeneCards	GC15M023004.
HGNC	HGNC:17044. NIPA2.
MIM	608146. gene.
neXtProt	NX_Q8N8Q9.
PharmGKB	PA134911294.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG298616.
HOGENOM	HOG000203962.
HOVERGEN	HBG055032.
InParanoid	Q8N8Q9.
OMA	QDRGKYD.
OrthoDB	EOG4THVTZ.
PhylomeDB	Q8N8Q9.
Gene expression databases
ArrayExpress	Q8N8Q9.
Bgee	Q8N8Q9.
CleanEx	HS_NIPA2.
Genevestigator	Q8N8Q9.
GermOnline	ENSG00000140157. Homo sapiens.
Family and domain databases
InterPro	IPR008521. Mg_trans_NIPA. [Graphical view]
PANTHER	PTHR12570. PTHR12570. 1 hit.
Pfam	PF05653. Mg_trans_NIPA. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	81614.
NextBio	71944.
SOURCE	Search...

Entry information

Entry name

NIPA2_HUMAN

Accession

Primary (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 3, 2013
This is version 80 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.