MICU3_HUMAN
ID MICU3_HUMAN Reviewed; 530 AA.
AC Q86XE3; Q8IYZ3;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2003, sequence version 1.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=Calcium uptake protein 3, mitochondrial;
DE AltName: Full=EF-hand domain-containing family member A2;
GN Name=MICU3; Synonyms=EFHA2;
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 GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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: May play a role in mitochondrial calcium uptake.
CC {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}. Membrane
CC {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
CC -!- MISCELLANEOUS: Binds calcium. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the MICU1 family. MICU3 subfamily.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH32868.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AC079193; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC136305; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC032868; AAH32868.1; ALT_FRAME; mRNA.
DR EMBL; BC045553; AAH45553.1; -; mRNA.
DR CCDS; CCDS5999.1; -.
DR RefSeq; NP_859074.1; NM_181723.2.
DR PDB; 6AGI; X-ray; 2.80 A; A/B=133-512.
DR PDB; 6AGJ; X-ray; 3.00 A; A/B=133-512.
DR PDBsum; 6AGI; -.
DR PDBsum; 6AGJ; -.
DR AlphaFoldDB; Q86XE3; -.
DR SMR; Q86XE3; -.
DR BioGRID; 130297; 15.
DR ComplexPortal; CPX-5965; Mitochondrial calcium uniporter complex, MICU1-MICU3 variant.
DR IntAct; Q86XE3; 2.
DR STRING; 9606.ENSP00000321455; -.
DR iPTMnet; Q86XE3; -.
DR PhosphoSitePlus; Q86XE3; -.
DR BioMuta; MICU3; -.
DR DMDM; 74762459; -.
DR jPOST; Q86XE3; -.
DR MassIVE; Q86XE3; -.
DR MaxQB; Q86XE3; -.
DR PaxDb; Q86XE3; -.
DR PeptideAtlas; Q86XE3; -.
DR PRIDE; Q86XE3; -.
DR ProteomicsDB; 70270; -.
DR Antibodypedia; 8886; 59 antibodies from 17 providers.
DR DNASU; 286097; -.
DR Ensembl; ENST00000318063.10; ENSP00000321455.5; ENSG00000155970.12.
DR GeneID; 286097; -.
DR KEGG; hsa:286097; -.
DR MANE-Select; ENST00000318063.10; ENSP00000321455.5; NM_181723.3; NP_859074.1.
DR UCSC; uc003wxd.3; human.
DR CTD; 286097; -.
DR GeneCards; MICU3; -.
DR HGNC; HGNC:27820; MICU3.
DR HPA; ENSG00000155970; Tissue enhanced (brain).
DR MIM; 610633; gene.
DR neXtProt; NX_Q86XE3; -.
DR OpenTargets; ENSG00000155970; -.
DR PharmGKB; PA134953154; -.
DR VEuPathDB; HostDB:ENSG00000155970; -.
DR eggNOG; KOG2643; Eukaryota.
DR GeneTree; ENSGT00950000183079; -.
DR HOGENOM; CLU_027103_0_2_1; -.
DR InParanoid; Q86XE3; -.
DR OMA; VQKYTTF; -.
DR OrthoDB; 707988at2759; -.
DR PhylomeDB; Q86XE3; -.
DR TreeFam; TF320374; -.
DR PathwayCommons; Q86XE3; -.
DR Reactome; R-HSA-8949215; Mitochondrial calcium ion transport.
DR Reactome; R-HSA-8949664; Processing of SMDT1.
DR SignaLink; Q86XE3; -.
DR BioGRID-ORCS; 286097; 11 hits in 1072 CRISPR screens.
DR ChiTaRS; MICU3; human.
DR GenomeRNAi; 286097; -.
DR Pharos; Q86XE3; Tbio.
DR PRO; PR:Q86XE3; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q86XE3; protein.
DR Bgee; ENSG00000155970; Expressed in cerebellar vermis and 165 other tissues.
DR ExpressionAtlas; Q86XE3; baseline and differential.
DR Genevisible; Q86XE3; HS.
DR GO; GO:0005743; C:mitochondrial inner membrane; TAS:Reactome.
DR GO; GO:1990246; C:uniplex complex; IBA:GO_Central.
DR GO; GO:0005509; F:calcium ion binding; IBA:GO_Central.
DR GO; GO:0036444; P:calcium import into the mitochondrion; IBA:GO_Central.
DR GO; GO:0051560; P:mitochondrial calcium ion homeostasis; IBA:GO_Central.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR018247; EF_Hand_1_Ca_BS.
DR InterPro; IPR002048; EF_hand_dom.
DR InterPro; IPR039800; MICU1/2/3.
DR PANTHER; PTHR12294; PTHR12294; 1.
DR Pfam; PF13833; EF-hand_8; 1.
DR SMART; SM00054; EFh; 2.
DR SUPFAM; SSF47473; SSF47473; 2.
DR PROSITE; PS00018; EF_HAND_1; 1.
DR PROSITE; PS50222; EF_HAND_2; 3.
PE 1: Evidence at protein level;
KW 3D-structure; Calcium; Membrane; Metal-binding; Mitochondrion;
KW Reference proteome; Repeat; Transmembrane; Transmembrane helix.
FT CHAIN 1..530
FT /note="Calcium uptake protein 3, mitochondrial"
FT /id="PRO_0000251230"
FT TRANSMEM 67..83
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 232..267
FT /note="EF-hand 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT DOMAIN 401..436
FT /note="EF-hand 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT DOMAIN 470..505
FT /note="EF-hand 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT REGION 92..115
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 245
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000305"
FT BINDING 247
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000305"
FT BINDING 249
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000305"
FT BINDING 251
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000305"
FT BINDING 256
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000305"
FT BINDING 483
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 485
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 487
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 489
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 494
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT CONFLICT 3
FT /note="A -> C (in Ref. 1; AAH32868)"
FT /evidence="ECO:0000305"
FT HELIX 136..139
FT /evidence="ECO:0007829|PDB:6AGI"
FT HELIX 144..152
FT /evidence="ECO:0007829|PDB:6AGI"
FT STRAND 155..157
FT /evidence="ECO:0007829|PDB:6AGI"
FT STRAND 160..163
FT /evidence="ECO:0007829|PDB:6AGI"
FT HELIX 165..173
FT /evidence="ECO:0007829|PDB:6AGI"
FT STRAND 184..186
FT /evidence="ECO:0007829|PDB:6AGJ"
FT HELIX 188..196
FT /evidence="ECO:0007829|PDB:6AGI"
FT HELIX 201..203
FT /evidence="ECO:0007829|PDB:6AGI"
FT HELIX 208..211
FT /evidence="ECO:0007829|PDB:6AGI"
FT STRAND 212..215
FT /evidence="ECO:0007829|PDB:6AGI"
FT HELIX 220..231
FT /evidence="ECO:0007829|PDB:6AGI"
FT HELIX 234..244
FT /evidence="ECO:0007829|PDB:6AGI"
FT STRAND 249..252
FT /evidence="ECO:0007829|PDB:6AGI"
FT HELIX 254..263
FT /evidence="ECO:0007829|PDB:6AGI"
FT HELIX 277..288
FT /evidence="ECO:0007829|PDB:6AGI"
FT HELIX 341..347
FT /evidence="ECO:0007829|PDB:6AGI"
FT TURN 348..351
FT /evidence="ECO:0007829|PDB:6AGI"
FT HELIX 357..380
FT /evidence="ECO:0007829|PDB:6AGI"
FT STRAND 383..386
FT /evidence="ECO:0007829|PDB:6AGI"
FT HELIX 388..396
FT /evidence="ECO:0007829|PDB:6AGI"
FT HELIX 404..414
FT /evidence="ECO:0007829|PDB:6AGI"
FT HELIX 423..434
FT /evidence="ECO:0007829|PDB:6AGI"
FT HELIX 436..448
FT /evidence="ECO:0007829|PDB:6AGI"
FT HELIX 455..466
FT /evidence="ECO:0007829|PDB:6AGI"
FT HELIX 472..482
FT /evidence="ECO:0007829|PDB:6AGI"
FT STRAND 485..488
FT /evidence="ECO:0007829|PDB:6AGI"
FT TURN 492..495
FT /evidence="ECO:0007829|PDB:6AGI"
FT HELIX 496..498
FT /evidence="ECO:0007829|PDB:6AGI"
SQ SEQUENCE 530 AA; 60711 MW; C51CAC12C3021F5C CRC64;
MAALRRLLWP PPRVSPPLCA HQPLLGPWGR PAVTTLGLPG RPFSSREDEE RAVAEAAWRR
RRRWGELSVA AAAGGGLVGL VCYQLYGDPR AGSPATGRPS KSAATEPEDP PRGRGMLPIP
VAAAKETVAI GRTDIEDLDL YATSRERRFR LFASIECEGQ LFMTPYDFIL AVTTDEPKVA
KTWKSLSKQE LNQMLAETPP VWKGSSKLFR NLKEKGVISY TEYLFLLCIL TKPHAGFRIA
FNMFDTDGNE MVDKKEFLVL QEIFRKKNEK REIKGDEEKR AMLRLQLYGY HSPTNSVLKT
DAEELVSRSY WDTLRRNTSQ ALFSDLAERA DDITSLVTDT TLLVHFFGKK GKAELNFEDF
YRFMDNLQTE VLEIEFLSYS NGMNTISEED FAHILLRYTN VENTSVFLEN VRYSIPEEKG
ITFDEFRSFF QFLNNLEDFA IALNMYNFAS RSIGQDEFKR AVYVATGLKF SPHLVNTVFK
IFDVDKDDQL SYKEFIGIMK DRLHRGFRGY KTVQKYPTFK SCLKKELHSR
