PABPC1L
entrez
80336
canonical
uniprot
Q4VXU2
canonical
ensembl
ENSG00000101104
resolver
ensp
ENSP00000217073
resolver
ensp
ENSP00000255136
resolver
enst
ENST00000255136
resolver
genesymbol
PABPC1L
resolver
genesymbol_syn
C20orf119
resolver
genesymbol_syn
EPAB
resolver
hgnc
HGNC:15797
resolver
uniprot
A0A6Q8JFT6
resolver
uniprot
Q4VY17
resolver
uniprot_entry
PAP1L_HUMAN
resolver
uniprot_sec
A0A6Q8JFT6
resolver
uniprot_sec
Q4VY17
resolver
amino_acid_sequence
MNASGSGYPLASLYVGDLHPDVTEAMLYEKFSPAGPILSIRVCRDVATRRSLGYAYINFQQPADAERALDTMNFEMLKGQPIRIMWSQRDPGLRKSGVGNIFIKNLEDSIDNKALYDTFSTFGNILSCKVACDEHGSRGFGFVHFETHEAAQQAINTMNGMLLNDRKVFVGHFKSRREREAELGARALEFTNIYVKNLPVDVDEQGLQDLFSQFGKMLSVKVMRDNSGHSRCFGFVNFEKHEEAQKAVVHMNGKEVSGRLLYAGRAQKRVERQNELKRRFEQMKQDRLRRYQGVNLYVKNLDDSIDDDKLRKEFSPYGVITSAKVMTEGGHSKGFGFVCFSSPEEATKAVTEMNGRIVGTKPLYVALAQRKEERKAILTNQYMQRLSTMRTLSNPLLGSFQQPSSYFLPAMPQPPAQAAYYGCGPVTPTQPAPRWTSQPPRPSSAYPPGASMVRPPVVPRRPPAHISSVRQASTQVPRTVPHTQRVANIGTQTTGPSGVGCCTPGRPLLPCKCSSAAHSTYRVQEPAVHIPGQEPLTASMLAAAPLHEQKQMIGERLYPLIHDVHTQLAGKITGMLLEIDNSELLLMLESPESLHAKIDEAVAVLQAHQAMEQPKAYMH
uniprot
proteins
disease_involvement
DISEASE: Oocyte/zygote/embryo maturation arrest 22 (OZEMA22) [MIM:621093]: An autosomal recessive, female infertility disorder characterized by oocyte maturation arrest, primarily at the germinal vesicle or metaphase I stages. In some cases, oocyte reaching the metaphase II stage can be fertilized, but embryo development is arrested before the 4-cell stage. {ECO:0000269|PubMed:37052235, ECO:0000269|PubMed:37723834, ECO:0000269|PubMed:38177974}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Poly(A)-binding protein involved in oocyte maturation and early embryo development (PubMed:37723834, PubMed:37052235). It is required for cytosolic mRNA polyadenylation and translational activation of maternally stored mRNA in oocytes (By similarity). {ECO:0000250|UniProtKB:A2A5N3, ECO:0000269|PubMed:37052235, ECO:0000269|PubMed:37723834}.
uniprot
proteins
mass_dalton
68862
uniprot
proteins
protein_family
Polyadenylate-binding protein type-1 family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
18716053
uniprot
proteins
pubmed
37052235
uniprot
proteins
pubmed
37723834
uniprot
proteins
pubmed
38177974
uniprot
proteins
sequence_length
619
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:37052235}.
uniprot
proteins