EFHA1
entrez
221154
canonical
uniprot
Q8IYU8
canonical
ensembl
ENSG00000165487
resolver
ensp
ENSP00000371811
resolver
ensp
ENSP00000676213
resolver
ensp
ENSP00000705448
resolver
enst
ENST00000382374
resolver
genesymbol
EFHA1
resolver
genesymbol
MICU2
resolver
genesymbol_syn
EFHA1
resolver
hgnc
HGNC:31830
resolver
uniprot
A0A0S2Z6V5
resolver
uniprot
Q8N0T6
resolver
uniprot
Q8NAX8
resolver
uniprot_entry
A0A0S2Z6V5_HUMAN
resolver
uniprot_entry
MICU2_HUMAN
resolver
uniprot_sec
Q8N0T6
resolver
uniprot_sec
Q8NAX8
resolver
amino_acid_sequence
MAAAAGSCARVAAWGGKLRRGLAVSRQAVRSPGPLAAAVAGAALAGAGAAWHHSRVSVAARDGSFTVSAQKNVEHGIIYIGKPSLRKQRFMQFSSLEHEGEYYMTPRDFLFSVMFEQMERKTSVKKLTKKDIEDTLSGIQTAGCGSTFFRDLGDKGLISYTEYLFLLTILTKPHSGFHVAFKMLDTDGNEMIEKREFFKLQKIISKQDDLMTVKTNETGYQEAIVKEPEINTTLQMRFFGKRGQRKLHYKEFRRFMENLQTEIQEMEFLQFSKGLSFMRKEDFAEWLLFFTNTENKDIYWKNVREKLSAGESISLDEFKSFCHFTTHLEDFAIAMQMFSLAHRPVRLAEFKRAVKVATGQELSNNILDTVFKIFDLDGDECLSHEEFLGVLKNRMHRGLWVPQHQSIQEYWKCVKKESIKGVKEVWKQAGKGLF
uniprot
proteins
function
FUNCTION: Calcium sensor of the mitochondrial calcium uniporter (MCU) channel, which senses calcium level via its EF-hand domains (PubMed:24503055, PubMed:24560927, PubMed:26903221, PubMed:28615291, PubMed:30699349, PubMed:31397067, PubMed:32494073, PubMed:32667285, PubMed:32762847, PubMed:32790952). MICU1 and MICU2 form a disulfide-linked heterodimer that stimulates and inhibits MCU activity, depending on the concentration of calcium (PubMed:24560927, PubMed:26903221, PubMed:28615291, PubMed:30699349, PubMed:31397067, PubMed:32148862, PubMed:32494073, PubMed:32667285, PubMed:32762847, PubMed:32790952). At low calcium levels, MICU1 occludes the pore of the MCU channel, preventing mitochondrial calcium uptake (PubMed:32494073, PubMed:32667285, PubMed:32762847). At higher calcium levels, calcium-binding to MICU1 and MICU2 induces a conformational change that weakens MCU-MICU1 interactions and moves the MICU1-MICU2 heterodimer away from the pore, allowing calcium permeation through the MCU channel (PubMed:32494073, PubMed:32667285, PubMed:32762847). {ECO:0000269|PubMed:24503055, ECO:0000269|PubMed:24560927, ECO:0000269|PubMed:26903221, ECO:0000269|PubMed:28615291, ECO:0000269|PubMed:30699349, ECO:0000269|PubMed:31397067, ECO:0000269|PubMed:32148862, ECO:0000269|PubMed:32494073, ECO:0000269|PubMed:32667285, ECO:0000269|PubMed:32762847, ECO:0000269|PubMed:32790952}.
uniprot
proteins
mass_dalton
49666
uniprot
proteins
mutagenesis
MUTAGEN 107; /note="R->E: Does not affect its ability to regulate the activity of MCU; when associated with 120-E-E-121 and R-154."; /evidence="ECO:0000269|PubMed:32494073"; MUTAGEN 120..121; /note="RK->EE: Does not affect its ability to regulate the activity of MCU; when associated with E-107 and R-154."; /evidence="ECO:0000269|PubMed:32494073"; MUTAGEN 154; /note="D->R: Does not affect its ability to regulate the activity of MCU; when associated with E-107 and 120-E-E-121."; /evidence="ECO:0000269|PubMed:32494073"; MUTAGEN 172; /note="K->A: Does not affect interaction with MICU1."; /evidence="ECO:0000269|PubMed:31397067"; MUTAGEN 185; /note="D->A: Abolishes mitochondrial Ca(2+) uptake; when associated with A-375 and A-386. In EF1(mut); decreased calcium-binding and abolished ability to interact with MICU1 when associated with K-196."; /evidence="ECO:0000269|PubMed:24503055, ECO:0000269|PubMed:31397067, ECO:0000269|PubMed:32148862"; MUTAGEN 196; /note="E->K: In EF1(mut); decreased calcium-binding and abolished ability to interact with MICU1 when associated with A-185."; /evidence="ECO:0000269|PubMed:31397067, ECO:0000269|PubMed:32148862"; MUTAGEN 206; /note="K->A: Does not affect interaction with MICU2."; /evidence="ECO:0000269|PubMed:32790952"; MUTAGEN 329; /note="E->A: Does not affect interaction with MICU1."; /evidence="ECO:0000269|PubMed:31397067"; MUTAGEN 336; /note="Q->A: Decreased interaction with MICU1."; /evidence="ECO:0000269|PubMed:32790952"; MUTAGEN 352; /note="R->A: Abolished interaction with MICU1."; /evidence="ECO:0000269|PubMed:31397067"; MUTAGEN 352; /note="R->E: Abilished interaction with MICU1 and ability to regulate the activity of MCU."; /evidence="ECO:0000269|PubMed:32494073"; MUTAGEN 375; /note="D->A: Abolishes mitochondrial Ca(2+) uptake; when associated with A-185 and A-386."; /evidence="ECO:0000269|PubMed:24503055"; MUTAGEN 386; /note="E->A: Abolishes mitochondrial Ca(2+) uptake; when associated with A-185 and A-375."; /evidence="ECO:0000269|PubMed:24503055
uniprot
proteins
protein_family
MICU1 family
uniprot
proteins
protein_family
MICU2 subfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24231807
uniprot
proteins
pubmed
24503055
uniprot
proteins
pubmed
24560927
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26341627
uniprot
proteins
pubmed
26387864
uniprot
proteins
pubmed
26774479
uniprot
proteins
pubmed
26903221
uniprot
proteins
pubmed
27099988
uniprot
proteins
pubmed
28615291
uniprot
proteins
pubmed
30699349
uniprot
proteins
pubmed
31397067
uniprot
proteins
pubmed
32148862
uniprot
proteins
pubmed
32494073
uniprot
proteins
pubmed
32667285
uniprot
proteins
pubmed
32762847
uniprot
proteins
pubmed
32790952
uniprot
proteins
pubmed
32862359
uniprot
proteins
sequence_length
434
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000269|PubMed:24231807, ECO:0000269|PubMed:24560927, ECO:0000269|PubMed:26774479, ECO:0000269|PubMed:27099988}. Mitochondrion inner membrane {ECO:0000269|PubMed:24231807, ECO:0000269|PubMed:27099988, ECO:0000269|PubMed:28615291}. Note=Recruited to the mitochondrial inner membrane via its association with the uniplex complex. {ECO:0000269|PubMed:24231807}.
uniprot
proteins