SMDT1
entrez
91689
canonical
uniprot
Q9H4I9
canonical
ensembl
ENSG00000183172
resolver
ensembl
ENSG00000272835
resolver
ensembl
ENSG00000272901
resolver
ensembl
ENSG00000274112
resolver
ensp
ENSP00000327467
resolver
ensp
ENSP00000459368
resolver
ensp
ENSP00000475471
resolver
ensp
ENSP00000485029
resolver
ensp
ENSP00000544785
resolver
ensp
ENSP00000544786
resolver
ensp
ENSP00000544787
resolver
ensp
ENSP00000544788
resolver
ensp
ENSP00000544789
resolver
ensp
ENSP00000544790
resolver
ensp
ENSP00000544791
resolver
ensp
ENSP00000594496
resolver
ensp
ENSP00000621352
resolver
enst
ENST00000331479
resolver
enst
ENST00000571525
resolver
enst
ENST00000607293
resolver
enst
ENST00000615504
resolver
enst
ENST00000874726
resolver
enst
ENST00000874727
resolver
enst
ENST00000874728
resolver
enst
ENST00000874729
resolver
enst
ENST00000874730
resolver
enst
ENST00000874731
resolver
enst
ENST00000874732
resolver
enst
ENST00000924437
resolver
enst
ENST00000951293
resolver
genesymbol
SMDT1
resolver
genesymbol_syn
C22orf32
resolver
genesymbol_syn
EMRE
resolver
hgnc
HGNC:25055
resolver
uniprot
B2R5D1
resolver
uniprot
Q8TAB9
resolver
uniprot_entry
EMRE_HUMAN
resolver
uniprot_sec
B2R5D1
resolver
uniprot_sec
Q8TAB9
resolver
amino_acid_sequence
MASGAARWLVLAPVRSGALRSGPSLRKDGDVSAAWSGSGRSLVPSRSVIVTRSGAILPKPVKMSFGLLRVFSIVIPFLYVGTLISKNFAALLEEHDIFVPEDDDDDD
uniprot
proteins
function
FUNCTION: Essential regulatory subunit of the mitochondrial calcium uniporter complex (uniplex), a complex that mediates calcium uptake into mitochondria (PubMed:24231807, PubMed:26774479, PubMed:27099988, PubMed:30454562, PubMed:31080062, PubMed:32315830, PubMed:32494073, PubMed:32762847, PubMed:32790952, PubMed:33296646). Required to bridge the calcium-sensing proteins MICU1 with the calcium-conducting subunit MCU (PubMed:24231807, PubMed:30454562, PubMed:32494073, PubMed:32762847, PubMed:32790952). Acts by mediating activation of MCU and retention of MICU1 to the MCU pore, in order to ensure tight regulation of the uniplex complex and appropriate responses to intracellular calcium signaling (PubMed:27099988, PubMed:31080062, PubMed:32315830, PubMed:33296646). {ECO:0000269|PubMed:24231807, ECO:0000269|PubMed:26774479, ECO:0000269|PubMed:27099988, ECO:0000269|PubMed:30454562, ECO:0000269|PubMed:31080062, ECO:0000269|PubMed:32315830, ECO:0000269|PubMed:32494073, ECO:0000269|PubMed:32762847, ECO:0000269|PubMed:32790952, ECO:0000269|PubMed:33296646}.
uniprot
proteins
mass_dalton
11441
uniprot
proteins
mutagenesis
MUTAGEN 58; /note="P->W: Abolished interaction with MCU."; /evidence="ECO:0000269|PubMed:33296646"; MUTAGEN 59; /note="K->W: Abolished interaction with MCU."; /evidence="ECO:0000269|PubMed:33296646"; MUTAGEN 60; /note="P->A,W: Abolished interaction with MCU."; /evidence="ECO:0000269|PubMed:33296646"; MUTAGEN 67..70; /note="LLRV->QLRT: Does not affect interaction with MCU."; /evidence="ECO:0000269|PubMed:33296646"; MUTAGEN 81; /note="G->W: Abolishes calcium uptake into mitochondria."; /evidence="ECO:0000269|PubMed:27099988, ECO:0000269|PubMed:33296646"; MUTAGEN 83; /note="L->W: Promotes association with MCU, protecting SMDT1/EMRE from degradation by AFG3L2 and SP7."; /evidence="ECO:0000269|PubMed:28396416"; MUTAGEN 85; /note="S->W: Abolishes calcium uptake into mitochondria. Promotes association with MCU, protecting SMDT1/EMRE from degradation by AFG3L2 and SP7."; /evidence="ECO:0000269|PubMed:27099988, ECO:0000269|PubMed:28396416, ECO:0000269|PubMed:33296646"; MUTAGEN 101..107; /note="EDDDDDD->QNNNNNN: Abolishes regulation of calcium uptake into mitochondria."; /evidence="ECO:0000269|PubMed:26774479
uniprot
proteins
post_translational_modification
PTM: Undergoes proteolytic degradation in neurons: degraded by AFG3L2 and SPG7 before SMDT1/EMRE assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU (PubMed:27642048, PubMed:28396416, PubMed:31097542). {ECO:0000269|PubMed:27642048, ECO:0000269|PubMed:28396416, ECO:0000269|PubMed:31097542}.
uniprot
proteins
protein_family
SMDT1/EMRE family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
12529303
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
24231807
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26774479
uniprot
proteins
pubmed
27099988
uniprot
proteins
pubmed
27184846
uniprot
proteins
pubmed
27642048
uniprot
proteins
pubmed
28396416
uniprot
proteins
pubmed
30454562
uniprot
proteins
pubmed
31080062
uniprot
proteins
pubmed
31097542
uniprot
proteins
pubmed
32315830
uniprot
proteins
pubmed
32494073
uniprot
proteins
pubmed
32762847
uniprot
proteins
pubmed
32790952
uniprot
proteins
pubmed
32862359
uniprot
proteins
pubmed
33296646
uniprot
proteins
sequence_length
107
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:24231807, ECO:0000269|PubMed:26774479, ECO:0000269|PubMed:27099988, ECO:0000269|PubMed:27642048, ECO:0000269|PubMed:31080062}; Single-pass membrane protein {ECO:0000269|PubMed:24231807, ECO:0000269|PubMed:27099988, ECO:0000269|PubMed:31080062}. Note=MAIP1 is required to assist sorting of EMRE/SMDT1 into mitochondrion by protecting EMRE/SMDT1 against protein degradation by YME1L1, thereby ensuring SMDT1/EMRE maturation by the mitochondrial processing peptidase (PMPCA and PMPCB) (PubMed:27642048). {ECO:0000269|PubMed:27642048}.
uniprot
proteins
transmembrane_region
TRANSMEM 66..85; /note="Helical"; /evidence="ECO:0000269|PubMed:31080062, ECO:0000269|PubMed:32494073, ECO:0000269|PubMed:32762847, ECO:0000269|PubMed:32862359, ECO:0007744|PDB:6K7X, ECO:0007744|PDB:6K7Y, ECO:0007744|PDB:6O58, ECO:0007744|PDB:6O5B, ECO:0007744|PDB:6WDN, ECO:0007744|PDB:6WDO, ECO:0007744|PDB:6XJV, ECO:0007744|PDB:6XJX
uniprot
proteins