ARMC12
entrez
221481
canonical
uniprot
Q5T9G4
canonical
ensembl
ENSG00000157343
resolver
ensp
ENSP00000288065
resolver
ensp
ENSP00000362973
resolver
ensp
ENSP00000362976
resolver
genesymbol
ARMC12
resolver
genesymbol_syn
C6orf81
resolver
hgnc
HGNC:21099
resolver
uniprot
Q8NEB2
resolver
uniprot
Q96LL8
resolver
uniprot_entry
ARM12_HUMAN
resolver
uniprot_sec
Q8NEB2
resolver
uniprot_sec
Q96LL8
resolver
amino_acid_sequence
MGKSIPQYLGQLDIRKSVVSLATGAGAIYLLYKAIKAGIKCKPPLCSNSPICIARLAVERERHGRDSGELRRLLNSLECKQDEYAKSMILHSITRCVYLLEAEASACTTDDIVLLGYMLDDKDNSVKTQALNTLKAFSGIRKFRLKIQEHSIKVLELISTIWDTELHIAGLRLLNNLPLPDYVHPQLRRVMPALMEILQSDYILAQVQAVRLLSYLAQKNDLLYDILNCQVHSNFLNLFQPTQSGSLLYEVLVFAERLSEGRNAPHYHVVKWHYNEQSLHESLFGEESRLADRLLALVIHPEEDVQIQACKVIVSLQYPQDLRARPSSCQPSRSYFKNTE
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 90 (SPGF90) [MIM:620744]: An autosomal recessive male infertility disorder due to severely reduced progressive motility of sperm. {ECO:0000269|PubMed:35534203}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Essential for male fertility and sperm mitochondrial sheath formation (By similarity). Required for proper mitochondrial elongation and coiling along the flagellum during the formation of the mitochondrial sheath (By similarity). Facilitates the growth and aggressiveness of neuroblastoma cells (PubMed:30026490). Increases the EZH2 activity and H3K27me3 levels in a RBBP4-dependent manner, and facilitates the enrichment of polycomb repressive complex 2 and H3K27me3 on gene promoters, resulting in transcriptional repression of tumor suppressors affecting the proliferation, invasion, and metastasis of tumor cells (PubMed:30026490). {ECO:0000250|UniProtKB:Q80X86, ECO:0000269|PubMed:30026490}.
uniprot
proteins
mass_dalton
38632
uniprot
proteins
mutagenesis
MUTAGEN 190; /note="V->A: Loss of interaction with RBBP4."; /evidence="ECO:0000269|PubMed:30026490
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
30026490
uniprot
proteins
pubmed
33536340
uniprot
proteins
pubmed
35534203
uniprot
proteins
sequence_length
340
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:30026490}. Mitochondrion outer membrane {ECO:0000250|UniProtKB:Q80X86}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q80X86}.
uniprot
proteins