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   27-MAR-2024, entry version 137.
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).
RN   [4]
RP   TISSUE SPECIFICITY.
RX   PubMed=32439805; DOI=10.1074/jbc.ra120.013277;
RA   Manialawy Y., Khan S.R., Bhattacharjee A., Wheeler M.B.;
RT   "The magnesium transporter NIPAL1 is a pancreatic islet-expressed protein
RT   that conditionally impacts insulin secretion.";
RL   J. Biol. Chem. 295:9879-9892(2020).
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|UniProtKB:Q8BMW7}.
CC   -!- CATALYTIC ACTIVITY:
CC       Reaction=Mg(2+)(in) = Mg(2+)(out); Xref=Rhea:RHEA:29827,
CC         ChEBI:CHEBI:18420; Evidence={ECO:0000250|UniProtKB:Q8BMW7};
CC   -!- SUBCELLULAR LOCATION: Golgi apparatus membrane
CC       {ECO:0000250|UniProtKB:Q8BMW7}; Multi-pass membrane protein
CC       {ECO:0000255}.
CC   -!- TISSUE SPECIFICITY: Expressed in the pancreatic islets.
CC       {ECO:0000269|PubMed:32439805}.
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   GlyCosmos; Q6NVV3; 4 sites, No reported glycans.
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; 9606-ENSP00000295461; -.
DR   PeptideAtlas; Q6NVV3; -.
DR   ProteomicsDB; 66724; -.
DR   Antibodypedia; 52126; 79 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   AGR; HGNC:27194; -.
DR   CTD; 152519; -.
DR   DisGeNET; 152519; -.
DR   GeneCards; NIPAL1; -.
DR   HGNC; HGNC:27194; NIPAL1.
DR   HPA; ENSG00000163293; Tissue enhanced (esophagus, skin).
DR   MIM; 620340; gene.
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; CMGVGEA; -.
DR   OrthoDB; 53219at2759; -.
DR   PhylomeDB; Q6NVV3; -.
DR   TreeFam; TF313214; -.
DR   PathwayCommons; Q6NVV3; -.
DR   Reactome; R-HSA-5223345; Miscellaneous transport and binding events.
DR   BioGRID-ORCS; 152519; 7 hits in 1135 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 136 other cell types or tissues.
DR   ExpressionAtlas; Q6NVV3; baseline and differential.
DR   GO; GO:0005794; C:Golgi apparatus; ISS:UniProtKB.
DR   GO; GO:0000139; C:Golgi membrane; IEA:UniProtKB-SubCell.
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:SF13; MAGNESIUM TRANSPORTER NIPA3; 1.
DR   PANTHER; PTHR12570; UNCHARACTERIZED; 1.
DR   Pfam; PF05653; Mg_trans_NIPA; 1.
DR   SUPFAM; SSF103481; Multidrug resistance efflux transporter EmrE; 1.
DR   Genevisible; Q6NVV3; HS.
PE   2: Evidence at transcript level;
KW   Glycoprotein; Golgi apparatus; Ion transport; Magnesium; Membrane;
KW   Reference proteome; 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
//