ATP5MK
entrez
84833
canonical
uniprot
Q96IX5
canonical
ensembl
ENSG00000173915
resolver
ensp
ENSP00000311245
resolver
ensp
ENSP00000337705
resolver
ensp
ENSP00000358826
resolver
ensp
ENSP00000358830
resolver
ensp
ENSP00000358840
resolver
ensp
ENSP00000546232
resolver
ensp
ENSP00000546233
resolver
ensp
ENSP00000546234
resolver
ensp
ENSP00000546235
resolver
ensp
ENSP00000546236
resolver
ensp
ENSP00000546237
resolver
ensp
ENSP00000546238
resolver
ensp
ENSP00000546239
resolver
ensp
ENSP00000546240
resolver
ensp
ENSP00000610625
resolver
ensp
ENSP00000610626
resolver
ensp
ENSP00000610627
resolver
ensp
ENSP00000610628
resolver
ensp
ENSP00000610629
resolver
ensp
ENSP00000610630
resolver
ensp
ENSP00000610631
resolver
ensp
ENSP00000610632
resolver
ensp
ENSP00000610634
resolver
ensp
ENSP00000610635
resolver
ensp
ENSP00000610636
resolver
ensp
ENSP00000610637
resolver
ensp
ENSP00000610638
resolver
ensp
ENSP00000610639
resolver
ensp
ENSP00000610640
resolver
ensp
ENSP00000622009
resolver
ensp
ENSP00000622010
resolver
enst
ENST00000309579
resolver
enst
ENST00000337003
resolver
enst
ENST00000369811
resolver
enst
ENST00000369815
resolver
enst
ENST00000369825
resolver
enst
ENST00000876173
resolver
enst
ENST00000876174
resolver
enst
ENST00000876175
resolver
enst
ENST00000876176
resolver
enst
ENST00000876177
resolver
enst
ENST00000876178
resolver
enst
ENST00000876179
resolver
enst
ENST00000876180
resolver
enst
ENST00000876181
resolver
enst
ENST00000940566
resolver
enst
ENST00000940567
resolver
enst
ENST00000940568
resolver
enst
ENST00000940569
resolver
enst
ENST00000940570
resolver
enst
ENST00000940571
resolver
enst
ENST00000940572
resolver
enst
ENST00000940573
resolver
enst
ENST00000940575
resolver
enst
ENST00000940576
resolver
enst
ENST00000940577
resolver
enst
ENST00000940578
resolver
enst
ENST00000940579
resolver
enst
ENST00000940580
resolver
enst
ENST00000940581
resolver
enst
ENST00000951950
resolver
enst
ENST00000951951
resolver
genesymbol
ATP5MK
resolver
genesymbol_syn
ATP5MD
resolver
genesymbol_syn
DAPIT
resolver
genesymbol_syn
HCVFTP2
resolver
genesymbol_syn
USMG5
resolver
hgnc
HGNC:30889
resolver
uniprot
B2R4N2
resolver
uniprot
D3DR92
resolver
uniprot_entry
ATPMK_HUMAN
resolver
uniprot_sec
B2R4N2
resolver
uniprot_sec
D3DR92
resolver
amino_acid_sequence
MAGPESDAQYQFTGIKKYFNSYTLTGRMNCVLATYGSIALIVLYFKLRSKKTPAVKAT
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex V deficiency, nuclear type 6 (MC5DN6) [MIM:618683]: An autosomal recessive mitochondrial disorder characterized by gross motor developmental delay manifesting in the first years of life, and subsequent episodic developmental regression. The episodes are associated with metabolic stress, including fever, illness, and general anesthesia. Patients develop gait difficulties or loss of ambulation, as well as other variable abnormalities, including abnormal movements, hemiplegia, and persistent lethargy. Brain imaging shows degenerative features in the basal ganglia and brainstem consistent with a diagnosis of Leigh syndrome. {ECO:0000269|PubMed:29917077}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Subunit k, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (Probable). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (By similarity). These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk (By similarity). During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation (Probable). In vivo, can only synthesize ATP although its ATP hydrolase activity can be activated artificially in vitro (By similarity). Part of the complex F(0) domain (By similarity). Required for dimerization of the ATP synthase complex and as such regulates ATP synthesis in the mitochondria (PubMed:21345788, PubMed:29917077). {ECO:0000250|UniProtKB:P19483, ECO:0000250|UniProtKB:Q3ZBI7, ECO:0000269|PubMed:21345788, ECO:0000269|PubMed:29917077, ECO:0000305|PubMed:29917077}.
uniprot
proteins
mass_dalton
6458
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16222733
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21345788
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29917077
uniprot
proteins
sequence_length
58
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:21345788, ECO:0000269|PubMed:29917077}; Single-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 23..45; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins