NIPA3_HUMAN
ID NIPA3_HUMAN Reviewed; 410 AA.
AC Q6NVV3; B3KTB0; Q68DA9;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 128.
DE RecName: Full=Magnesium transporter NIPA3;
DE AltName: Full=NIPA-like protein 1;
DE AltName: Full=Non-imprinted in Prader-Willi/Angelman syndrome region protein 3;
GN Name=NIPAL1; Synonyms=NIPA3, NPAL1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Tongue;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Fetal kidney;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Acts as a Mg(2+) transporter. Can also transport other
CC divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+), Cu(2+) and
CC Co(2+) but to a much less extent than Mg(2+) (By similarity).
CC {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the NIPA family. {ECO:0000305}.
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DR EMBL; AK095299; BAG53022.1; -; mRNA.
DR EMBL; CR749484; CAH18311.1; -; mRNA.
DR EMBL; BC067881; AAH67881.1; -; mRNA.
DR CCDS; CCDS3479.1; -.
DR RefSeq; NP_997213.1; NM_207330.2.
DR AlphaFoldDB; Q6NVV3; -.
DR BioGRID; 127450; 118.
DR STRING; 9606.ENSP00000295461; -.
DR GlyGen; Q6NVV3; 4 sites.
DR iPTMnet; Q6NVV3; -.
DR PhosphoSitePlus; Q6NVV3; -.
DR BioMuta; NIPAL1; -.
DR DMDM; 74736867; -.
DR MassIVE; Q6NVV3; -.
DR MaxQB; Q6NVV3; -.
DR PaxDb; Q6NVV3; -.
DR PeptideAtlas; Q6NVV3; -.
DR PRIDE; Q6NVV3; -.
DR ProteomicsDB; 66724; -.
DR Antibodypedia; 52126; 67 antibodies from 14 providers.
DR DNASU; 152519; -.
DR Ensembl; ENST00000295461.10; ENSP00000295461.5; ENSG00000163293.12.
DR GeneID; 152519; -.
DR KEGG; hsa:152519; -.
DR MANE-Select; ENST00000295461.10; ENSP00000295461.5; NM_207330.3; NP_997213.1.
DR UCSC; uc003gxw.4; human.
DR CTD; 152519; -.
DR DisGeNET; 152519; -.
DR GeneCards; NIPAL1; -.
DR HGNC; HGNC:27194; NIPAL1.
DR HPA; ENSG00000163293; Tissue enhanced (esophagus, liver, skin).
DR neXtProt; NX_Q6NVV3; -.
DR OpenTargets; ENSG00000163293; -.
DR PharmGKB; PA164723925; -.
DR VEuPathDB; HostDB:ENSG00000163293; -.
DR eggNOG; KOG2922; Eukaryota.
DR GeneTree; ENSGT00940000160022; -.
DR HOGENOM; CLU_012349_1_3_1; -.
DR InParanoid; Q6NVV3; -.
DR OMA; MSCKGLG; -.
DR OrthoDB; 754939at2759; -.
DR PhylomeDB; Q6NVV3; -.
DR TreeFam; TF313214; -.
DR PathwayCommons; Q6NVV3; -.
DR Reactome; R-HSA-5223345; Miscellaneous transport and binding events.
DR BioGRID-ORCS; 152519; 5 hits in 1057 CRISPR screens.
DR ChiTaRS; NIPAL1; human.
DR GenomeRNAi; 152519; -.
DR Pharos; Q6NVV3; Tdark.
DR PRO; PR:Q6NVV3; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q6NVV3; protein.
DR Bgee; ENSG00000163293; Expressed in buccal mucosa cell and 135 other tissues.
DR ExpressionAtlas; Q6NVV3; baseline and differential.
DR Genevisible; Q6NVV3; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0015095; F:magnesium ion transmembrane transporter activity; IEA:InterPro.
DR GO; GO:0015693; P:magnesium ion transport; IBA:GO_Central.
DR InterPro; IPR008521; Mg_trans_NIPA.
DR PANTHER; PTHR12570; PTHR12570; 1.
DR Pfam; PF05653; Mg_trans_NIPA; 1.
PE 2: Evidence at transcript level;
KW Glycoprotein; Ion transport; Magnesium; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..410
FT /note="Magnesium transporter NIPA3"
FT /id="PRO_0000242146"
FT TOPO_DOM 1..67
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 68..88
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 89..114
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 115..135
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 136
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 137..157
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 158..165
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 166..186
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 187..207
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 208..228
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 229..233
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 234..254
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 255..273
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 274..294
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 295..305
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 306..326
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 327..336
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 337..357
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 358..410
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT CARBOHYD 25
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 35
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 50
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 55
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 324
FT /note="I -> V (in dbSNP:rs13116684)"
FT /id="VAR_026843"
FT CONFLICT 201
FT /note="E -> G (in Ref. 2; CAH18311)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 410 AA; 44638 MW; 4690E95C87D43EB8 CRC64;
MGAQVRLPPG EPCREGYVLS LVCPNSSQAW CEITNVSQLL ASPVLYTDLN YSINNLSISA
NVENKYSLYV GLVLAVSSSI FIGSSFILKK KGLLQLASKG FTRAGQGGHS YLKEWLWWVG
LLSMGAGEAA NFAAYAFAPA TLVTPLGALS VLISAILSSY FLNEHLNIHG KIGCILSILG
STVMVIHAPQ EEEVTSLHEM EMKLRDPGFI SFAVIITVIS LVLILIVAPK KGQTNILVYI
SICSLIGAFS VSSVKGLGIA IKELIEWKPV YKHPLVFVLL AVLVLSVTTQ INYLNKALDT
FNTSLVTPIY YVFFTSMVVT CSAILFQEWY GMTAGDIIGT LSGFFTIIIG IFLLHAFKNT
DITWSELTST AKKEAVSLNV NENNYVLLEN LECSAPGYND DVTLFSRTDD
