SFXN4
entrez
119559
canonical
uniprot
Q6P4A7
canonical
ensembl
ENSG00000183605
resolver
ensp
ENSP00000347924
resolver
ensp
ENSP00000358127
resolver
ensp
ENSP00000778248
resolver
genesymbol
SFXN4
resolver
genesymbol_syn
BCRM1
resolver
hgnc
HGNC:16088
resolver
uniprot
Q6WSU4
resolver
uniprot
Q86TD9
resolver
uniprot_entry
SFXN4_HUMAN
resolver
uniprot_sec
Q6WSU4
resolver
uniprot_sec
Q86TD9
resolver
amino_acid_sequence
MSLEQEEETQPGRLLGRRDAVPAFIEPNVRFWITERQSFIRRFLQWTELLDPTNVFISVESIENSRQLLCTNEDVSSPASADQRIQEAWKRSLATVHPDSSNLIPKLFRPAAFLPFMAPTVFLSMTPLKGIKSVILPQVFLCAYMAAFNSINGNRSYTCKPLERSLLMAGAVASSTFLGVIPQFVQMKYGLTGPWIKRLLPVIFLVQASGMNVYMSRSLESIKGIAVMDKEGNVLGHSRIAGTKAVRETLASRIVLFGTSALIPEVFTYFFKRTQYFRKNPGSLWILKLSCTVLAMGLMVPFSFSIFPQIGQIQYCSLEEKIQSPTEETEIFYHRGV
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 18 (COXPD18) [MIM:615578]: An autosomal recessive disorder of mitochondrial dysfunction characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia. {ECO:0000269|PubMed:24119684}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mitochondrial amino-acid transporter (By similarity). Does not act as a serine transporter: not able to mediate transport of serine into mitochondria (PubMed:30442778). {ECO:0000250|UniProtKB:Q9H9B4, ECO:0000269|PubMed:30442778}.
uniprot
proteins
mass_dalton
37998
uniprot
proteins
protein_family
Sideroflexin family
uniprot
proteins
pubmed
14756423
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24119684
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30442778
uniprot
proteins
sequence_length
337
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:24119684, ECO:0000305|PubMed:30442778}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 111..131; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 133..153; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 165..185; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 251..271; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 293..313; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins