S41A3_HUMAN
ID S41A3_HUMAN Reviewed; 507 AA.
AC Q96GZ6; A6ND60; B3KSD9; B7Z4Y2; C9JE96; E7ENY4; Q8N342; Q8NB27; Q9H9I6;
AC Q9HAB1; Q9NX30;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 2.
DT 03-AUG-2022, entry version 153.
DE RecName: Full=Solute carrier family 41 member 3;
GN Name=SLC41A3;
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] (ISOFORMS 3; 4; 5; 6; 7 AND 8), AND
RP VARIANTS ALA-62 AND MET-71.
RC TISSUE=Brain, Lung, and Testis;
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 GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 9), AND VARIANT
RP ALA-62.
RC TISSUE=Brain, and Colon;
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 FUNCTION, TRANSPORTER ACTIVITY, AND SUBCELLULAR LOCATION.
RX PubMed=27302215; DOI=10.1038/srep27999;
RA Mastrototaro L., Smorodchenko A., Aschenbach J.R., Kolisek M., Sponder G.;
RT "Solute carrier 41A3 encodes for a mitochondrial Mg(2+) efflux system.";
RL Sci. Rep. 6:27999-27999(2016).
CC -!- FUNCTION: Na(+)/Mg(2+) ion exchanger that acts as a predominant Mg(2+)
CC efflux system at the mitochondrial inner membrane.
CC {ECO:0000269|PubMed:27302215}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=Mg(2+)(in) + 2 Na(+)(out) = Mg(2+)(out) + 2 Na(+)(in);
CC Xref=Rhea:RHEA:66616, ChEBI:CHEBI:18420, ChEBI:CHEBI:29101;
CC Evidence={ECO:0000269|PubMed:27302215};
CC PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:66617;
CC Evidence={ECO:0000305|PubMed:27302215};
CC -!- INTERACTION:
CC Q96GZ6; P23560-2: BDNF; NbExp=3; IntAct=EBI-7225508, EBI-12275524;
CC Q96GZ6; Q8WVX3-2: C4orf3; NbExp=3; IntAct=EBI-7225508, EBI-12003442;
CC Q96GZ6; P16619: CCL3L3; NbExp=3; IntAct=EBI-7225508, EBI-12934095;
CC Q96GZ6; P04406: GAPDH; NbExp=3; IntAct=EBI-7225508, EBI-354056;
CC Q96GZ6; P24593: IGFBP5; NbExp=3; IntAct=EBI-7225508, EBI-720480;
CC Q96GZ6; Q86UT5: PDZD3; NbExp=3; IntAct=EBI-7225508, EBI-8744528;
CC Q96GZ6; P60201-2: PLP1; NbExp=3; IntAct=EBI-7225508, EBI-12188331;
CC Q96GZ6; Q04864: REL; NbExp=3; IntAct=EBI-7225508, EBI-307352;
CC Q96GZ6; Q9NRQ5: SMCO4; NbExp=3; IntAct=EBI-7225508, EBI-8640191;
CC Q96GZ6; Q9UMX1: SUFU; NbExp=3; IntAct=EBI-7225508, EBI-740595;
CC Q96GZ6; P55061: TMBIM6; NbExp=3; IntAct=EBI-7225508, EBI-1045825;
CC Q96GZ6; Q5TGU0: TSPO2; NbExp=3; IntAct=EBI-7225508, EBI-12195249;
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000269|PubMed:27302215}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=9;
CC Name=1;
CC IsoId=Q96GZ6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96GZ6-2; Sequence=VSP_026938;
CC Name=3;
CC IsoId=Q96GZ6-3; Sequence=VSP_026935;
CC Name=4;
CC IsoId=Q96GZ6-4; Sequence=VSP_026935, VSP_026938;
CC Name=5;
CC IsoId=Q96GZ6-5; Sequence=VSP_026934, VSP_026937;
CC Name=6;
CC IsoId=Q96GZ6-6; Sequence=VSP_026936, VSP_026937;
CC Name=7;
CC IsoId=Q96GZ6-7; Sequence=VSP_035505, VSP_035506, VSP_026937;
CC Name=8;
CC IsoId=Q96GZ6-8; Sequence=VSP_043676, VSP_026937;
CC Name=9;
CC IsoId=Q96GZ6-9; Sequence=VSP_054059, VSP_054060;
CC -!- SIMILARITY: Belongs to the SLC41A transporter family. {ECO:0000305}.
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DR EMBL; AK000480; BAA91192.1; -; mRNA.
DR EMBL; AK021925; BAB13938.1; -; mRNA.
DR EMBL; AK022780; BAB14241.1; -; mRNA.
DR EMBL; AK091671; BAC03717.1; -; mRNA.
DR EMBL; AK093380; BAG52701.1; -; mRNA.
DR EMBL; AK298070; BAH12718.1; -; mRNA.
DR EMBL; AC079848; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC092903; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC117422; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC009444; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC009039; AAH09039.1; -; mRNA.
DR EMBL; BC028241; AAH28241.1; -; mRNA.
DR CCDS; CCDS33842.1; -. [Q96GZ6-3]
DR CCDS; CCDS33843.1; -. [Q96GZ6-1]
DR CCDS; CCDS33844.1; -. [Q96GZ6-7]
DR CCDS; CCDS43144.1; -. [Q96GZ6-9]
DR CCDS; CCDS54635.1; -. [Q96GZ6-8]
DR RefSeq; NP_001008485.1; NM_001008485.1. [Q96GZ6-1]
DR RefSeq; NP_001008486.1; NM_001008486.1. [Q96GZ6-3]
DR RefSeq; NP_001008487.1; NM_001008487.1. [Q96GZ6-7]
DR RefSeq; NP_001157947.1; NM_001164475.1. [Q96GZ6-8]
DR RefSeq; XP_005247619.1; XM_005247562.1. [Q96GZ6-1]
DR RefSeq; XP_005247620.1; XM_005247563.2. [Q96GZ6-1]
DR RefSeq; XP_006713744.1; XM_006713681.2. [Q96GZ6-1]
DR RefSeq; XP_016862195.1; XM_017006706.1. [Q96GZ6-9]
DR RefSeq; XP_016862196.1; XM_017006707.1. [Q96GZ6-9]
DR AlphaFoldDB; Q96GZ6; -.
DR BioGRID; 120285; 38.
DR IntAct; Q96GZ6; 22.
DR MINT; Q96GZ6; -.
DR STRING; 9606.ENSP00000326070; -.
DR DrugBank; DB14513; Magnesium.
DR DrugBank; DB09481; Magnesium carbonate.
DR TCDB; 1.A.26.2.3; the mg(2+) transporter-e (mgte) family.
DR iPTMnet; Q96GZ6; -.
DR PhosphoSitePlus; Q96GZ6; -.
DR SwissPalm; Q96GZ6; -.
DR BioMuta; SLC41A3; -.
DR DMDM; 313104184; -.
DR EPD; Q96GZ6; -.
DR jPOST; Q96GZ6; -.
DR MassIVE; Q96GZ6; -.
DR MaxQB; Q96GZ6; -.
DR PaxDb; Q96GZ6; -.
DR PeptideAtlas; Q96GZ6; -.
DR PRIDE; Q96GZ6; -.
DR ProteomicsDB; 17250; -.
DR ProteomicsDB; 76685; -. [Q96GZ6-1]
DR ProteomicsDB; 76686; -. [Q96GZ6-2]
DR ProteomicsDB; 76687; -. [Q96GZ6-3]
DR ProteomicsDB; 76688; -. [Q96GZ6-4]
DR ProteomicsDB; 76689; -. [Q96GZ6-5]
DR ProteomicsDB; 76690; -. [Q96GZ6-6]
DR ProteomicsDB; 76691; -. [Q96GZ6-7]
DR ProteomicsDB; 76692; -. [Q96GZ6-8]
DR TopDownProteomics; Q96GZ6-7; -. [Q96GZ6-7]
DR Antibodypedia; 33042; 39 antibodies from 14 providers.
DR DNASU; 54946; -.
DR Ensembl; ENST00000315891.10; ENSP00000326070.6; ENSG00000114544.17. [Q96GZ6-1]
DR Ensembl; ENST00000346785.9; ENSP00000264471.6; ENSG00000114544.17. [Q96GZ6-3]
DR Ensembl; ENST00000360370.9; ENSP00000353533.4; ENSG00000114544.17. [Q96GZ6-9]
DR Ensembl; ENST00000383598.6; ENSP00000373092.2; ENSG00000114544.17. [Q96GZ6-7]
DR Ensembl; ENST00000508835.5; ENSP00000427409.1; ENSG00000114544.17. [Q96GZ6-8]
DR GeneID; 54946; -.
DR KEGG; hsa:54946; -.
DR MANE-Select; ENST00000360370.9; ENSP00000353533.4; NM_017836.4; NP_060306.4. [Q96GZ6-9]
DR UCSC; uc003eii.4; human. [Q96GZ6-1]
DR CTD; 54946; -.
DR DisGeNET; 54946; -.
DR GeneCards; SLC41A3; -.
DR HGNC; HGNC:31046; SLC41A3.
DR HPA; ENSG00000114544; Low tissue specificity.
DR MIM; 610803; gene.
DR neXtProt; NX_Q96GZ6; -.
DR OpenTargets; ENSG00000114544; -.
DR PharmGKB; PA134878151; -.
DR VEuPathDB; HostDB:ENSG00000114544; -.
DR eggNOG; KOG3788; Eukaryota.
DR GeneTree; ENSGT00950000183042; -.
DR HOGENOM; CLU_018207_3_0_1; -.
DR InParanoid; Q96GZ6; -.
DR OMA; FCFQGKK; -.
DR OrthoDB; 1059294at2759; -.
DR PhylomeDB; Q96GZ6; -.
DR TreeFam; TF313647; -.
DR PathwayCommons; Q96GZ6; -.
DR SignaLink; Q96GZ6; -.
DR BioGRID-ORCS; 54946; 12 hits in 1076 CRISPR screens.
DR ChiTaRS; SLC41A3; human.
DR GeneWiki; SLC41A3; -.
DR GenomeRNAi; 54946; -.
DR Pharos; Q96GZ6; Tdark.
DR PRO; PR:Q96GZ6; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q96GZ6; protein.
DR Bgee; ENSG00000114544; Expressed in right hemisphere of cerebellum and 185 other tissues.
DR ExpressionAtlas; Q96GZ6; baseline and differential.
DR Genevisible; Q96GZ6; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005743; C:mitochondrial inner membrane; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0061768; F:magnesium:sodium antiporter activity; IDA:UniProtKB.
DR GO; GO:0045016; P:mitochondrial magnesium ion transmembrane transport; IDA:UniProtKB.
DR Gene3D; 1.10.357.20; -; 2.
DR InterPro; IPR006667; SLC41_membr_dom.
DR InterPro; IPR036739; SLC41_membr_dom_sf.
DR InterPro; IPR045349; SLC41A1-3.
DR PANTHER; PTHR16228; PTHR16228; 1.
DR Pfam; PF01769; MgtE; 2.
DR SUPFAM; SSF161093; SSF161093; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Ion transport; Magnesium; Membrane; Mitochondrion;
KW Mitochondrion inner membrane; Reference proteome; Transmembrane;
KW Transmembrane helix; Transport.
FT CHAIN 1..507
FT /note="Solute carrier family 41 member 3"
FT /id="PRO_0000295592"
FT TRANSMEM 67..87
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 152..172
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 189..209
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 220..240
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 252..272
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 284..304
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 314..334
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 377..397
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 406..426
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 482..502
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..60
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..117
FT /note="Missing (in isoform 8)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043676"
FT VAR_SEQ 1..26
FT /note="Missing (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_035505"
FT VAR_SEQ 27..90
FT /note="STGGLPVASEDGALRAPESQSVTPKPLETEPSRETTWSIGLQVTVPFMFAGL
FT GLSWAGMLLDYF -> MVVTQLNLEFCFQGKKLRGFSCELTRSPHGVLPESFFTIMCQV
FT VVPILLSGLCMMTAGLVMNTI (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_035506"
FT VAR_SEQ 61..69
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026934"
FT VAR_SEQ 92..127
FT /note="Missing (in isoform 3 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026935"
FT VAR_SEQ 218..266
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026936"
FT VAR_SEQ 457..507
FT /note="SSSVGHTAAVPRRCTASPGWGLIQPFICTQHLIVSLLSFYFPFCLLAKTSI
FT -> TGLLALCFFTDWLLKSKAELGGISELASGPP (in isoform 5, isoform
FT 6, isoform 7 and isoform 8)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026937"
FT VAR_SEQ 457..487
FT /note="SSSVGHTAAVPRRCTASPGWGLIQPFICTQH -> TGLLALCFFTDWLLKSK
FT AELGGISELASGPP (in isoform 9)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_054059"
FT VAR_SEQ 488..507
FT /note="Missing (in isoform 9)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_054060"
FT VAR_SEQ 501..507
FT /note="Missing (in isoform 2 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_026938"
FT VARIANT 62
FT /note="T -> A (in dbSNP:rs4234270)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_033296"
FT VARIANT 71
FT /note="V -> M (in dbSNP:rs11543283)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_046667"
FT CONFLICT 331
FT /note="A -> G (in Ref. 1; BAC03717)"
FT /evidence="ECO:0000305"
FT CONFLICT 387
FT /note="L -> P (in Ref. 1; BAB13938)"
FT /evidence="ECO:0000305"
FT CONFLICT 405
FT /note="Q -> R (in Ref. 1; BAC03717)"
FT /evidence="ECO:0000305"
FT CONFLICT 448
FT /note="L -> P (in Ref. 1; BAB13938)"
FT /evidence="ECO:0000305"
FT CONFLICT Q96GZ6-7:432
FT /note="G -> S (in Ref. 1; BAG52701)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 507 AA; 54767 MW; EA2C1C9216F01AA1 CRC64;
MDGTETRQRR LDSCGKPGEL GLPHPLSTGG LPVASEDGAL RAPESQSVTP KPLETEPSRE
TTWSIGLQVT VPFMFAGLGL SWAGMLLDYF QHWPVFVEVK DLLTLVPPLV GLKGNLEMTL
ASRLSTAANT GQIDDPQEQH RVISSNLALI QVQATVVGLL AAVAALLLGV VSREEVDVAK
VELLCASSVL TAFLAAFALG VLMVCIVIGA RKLGVNPDNI ATPIAASLGD LITLSILALV
SSFFYRHKDS RYLTPLVCLS FAALTPVWVL IAKQSPPIVK ILKFGWFPII LAMVISSFGG
LILSKTVSKQ QYKGMAIFTP VICGVGGNLV AIQTSRISTY LHMWSAPGVL PLQMKKFWPN
PCSTFCTSEI NSMSARVLLL LVVPGHLIFF YIIYLVEGQS VINSQTFVVL YLLAGLIQVT
ILLYLAEVMV RLTWHQALDP DNHCIPYLTG LGDLLGSSSV GHTAAVPRRC TASPGWGLIQ
PFICTQHLIV SLLSFYFPFC LLAKTSI
