EFHD1
entrez
80303
canonical
uniprot
Q9BUP0
canonical
ensembl
ENSG00000115468
resolver
ensp
ENSP00000264059
resolver
ensp
ENSP00000386243
resolver
ensp
ENSP00000386556
resolver
ensp
ENSP00000386685
resolver
enst
ENST00000409708
resolver
enst
ENST00000410095
resolver
genesymbol
EFHD1
resolver
genesymbol
PP1187
resolver
genesymbol_syn
DKFZp781H0842
resolver
genesymbol_syn
SWS2
resolver
hgnc
HGNC:29556
resolver
uniprot
B2RD83
resolver
uniprot
E9PFH3
resolver
uniprot
F6UEA2
resolver
uniprot
Q8WYH2
resolver
uniprot
Q9BTF8
resolver
uniprot
Q9H8I2
resolver
uniprot
Q9HBQ0
resolver
uniprot_entry
EFHD1_HUMAN
resolver
uniprot_entry
F6UEA2_HUMAN
resolver
uniprot_entry
Q8WYH2_HUMAN
resolver
uniprot_sec
B2RD83
resolver
uniprot_sec
E9PFH3
resolver
uniprot_sec
Q9BTF8
resolver
uniprot_sec
Q9H8I2
resolver
uniprot_sec
Q9HBQ0
resolver
amino_acid_sequence
MASEELACKLERRLRREEAEESGPQLAPLGAPAPEPKPEPEPPARAPTASADAELSAQLSRRLDINEGAARPRRCRVFNPYTEFPEFSRRLIKDLESMFKLYDAGRDGFIDLMELKLMMEKLGAPQTHLGLKSMIKEVDEDFDGKLSFREFLLIFHKAAAGELQEDSGLMALAKLSEIDVALEGVKGAKNFFEAKVQALSSASKFEAELKAEQDERKREEEERRLRQAAFQKLKANFNT
uniprot
proteins
function
FUNCTION: Acts as a calcium sensor for mitochondrial flash (mitoflash) activation, an event characterized by stochastic bursts of superoxide production (PubMed:26975899). May play a role in neuronal differentiation (By similarity). {ECO:0000250|UniProtKB:Q9D4J1, ECO:0000269|PubMed:26975899}.
uniprot
proteins
mass_dalton
26928
uniprot
proteins
mutagenesis
MUTAGEN 103; /note="D->A: In mtEFHD1; abolished ability to enhance mitoflash activity; when associated with K-114; A-139 and K-150."; /evidence="ECO:0000269|PubMed:26975899"; MUTAGEN 114; /note="E->K: In mtEFHD1; abolished ability to enhance mitoflash activity; when associated with A-103; A-139 and K-150."; /evidence="ECO:0000269|PubMed:26975899"; MUTAGEN 139; /note="D->A: In mtEFHD1; abolished ability to enhance mitoflash activity; when associated with A-103; K-114 and K-150."; /evidence="ECO:0000269|PubMed:26975899"; MUTAGEN 150; /note="E->K: In mtEFHD1; abolished ability to enhance mitoflash activity; when associated with A-103; K-114 and A-139."; /evidence="ECO:0000269|PubMed:26975899
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26975899
uniprot
proteins
sequence_length
239
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:Q9D4J1}.
uniprot
proteins