PTBP1
entrez
5725
canonical
uniprot
P26599
canonical
ensembl
ENSG00000011304
resolver
ensp
ENSP00000014112
resolver
ensp
ENSP00000349428
resolver
ensp
ENSP00000408096
resolver
ensp
ENSP00000504829
resolver
ensp
ENSP00000734369
resolver
enst
ENST00000679114
resolver
genesymbol
PTBP1
resolver
genesymbol_syn
PTB
resolver
hgnc
HGNC:9583
resolver
uniprot
A0A7I2V621
resolver
uniprot
Q9BUQ0
resolver
uniprot_entry
A0A7I2V621_HUMAN
resolver
uniprot_entry
PTBP1_HUMAN
resolver
uniprot_sec
Q9BUQ0
resolver
amino_acid_sequence
MDGIVPDIAVGTKRGSDELFSTCVTNGPFIMSSNSASAANGNDSKKFKGDSRSAGVPSRVIHIRKLPIDVTEGEVISLGLPFGKVTNLLMLKGKNQAFIEMNTEEAANTMVNYYTSVTPVLRGQPIYIQFSNHKELKTDSSPNQARAQAALQAVNSVQSGNLALAASAAAVDAGMAMAGQSPVLRIIVENLFYPVTLDVLHQIFSKFGTVLKIITFTKNNQFQALLQYADPVSAQHAKLSLDGQNIYNACCTLRIDFSKLTSLNVKYNNDKSRDYTRPDLPSGDSQPSLDQTMAAAFGAPGIISASPYAGAGFPPTFAIPQAAGLSVPNVHGALAPLAIPSAAAAAAAAGRIAIPGLAGAGNSVLLVSNLNPERVTPQSLFILFGVYGDVQRVKILFNKKENALVQMADGNQAQLAMSHLNGHKLHGKPIRITLSKHQNVQLPREGQEDQGLTKDYGNSPLHRFKKPGSKNFQNIFPPSATLHLSNIPPSVSEEDLKVLFSSNGGVVKGFKFFQKDRKMALIQMGSVEEAVQALIDLHNHDLGENHHLRVSFSKSTI
uniprot
proteins
disease_involvement
DISEASE: STAD syndrome (STADS) [MIM:621495]: An autosomal dominant disorder characterized by skeletal dysplasia, tooth anomalies, and developmental delay. Affected individuals show disproportionate short stature with short limbs, facial dysmorphism, and dental anomalies. Most patients have neurodevelopmental delays, ranging from isolated fine motor delays to impaired intellectual development. {ECO:0000269|PubMed:40965981}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in pre-mRNA splicing and in the regulation of alternative splicing events. Activates exon skipping of its own pre-mRNA during muscle cell differentiation. Binds to the polypyrimidine tract of introns. May promote RNA looping when bound to two separate polypyrimidine tracts in the same pre-mRNA. May promote the binding of U2 snRNP to pre-mRNA. Cooperates with RAVER1 to modulate switching between mutually exclusive exons during maturation of the TPM1 pre-mRNA. Represses the splicing of MAPT/Tau exon 10 (PubMed:15009664). Binds to polypyrimidine-rich controlling element (PCE) of CFTR and promotes exon skipping of CFTR exon 9, thereby antagonizing TIA1 and its role in exon inclusion of CFTR exon 9 (PubMed:14966131). Plays a role in the splicing of pyruvate kinase PKM by binding repressively to a polypyrimidine tract flanking PKM exon 9, inhibiting exon 9 inclusion and resulting in exon 10 inclusion and production of the PKM M2 isoform (PubMed:20010808). In case of infection by picornaviruses, binds to the viral internal ribosome entry site (IRES) and stimulates the IRES-mediated translation (PubMed:21518806). {ECO:0000269|PubMed:11003644, ECO:0000269|PubMed:14966131, ECO:0000269|PubMed:15009664, ECO:0000269|PubMed:16179478, ECO:0000269|PubMed:16260624, ECO:0000269|PubMed:20010808, ECO:0000269|PubMed:21518792, ECO:0000269|PubMed:21518806}.
uniprot
proteins
mass_dalton
59633
uniprot
proteins
pubmed
10653975
uniprot
proteins
pubmed
10856256
uniprot
proteins
pubmed
11003644
uniprot
proteins
pubmed
1286667
uniprot
proteins
pubmed
14966131
uniprot
proteins
pubmed
15009664
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15341728
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16179478
uniprot
proteins
pubmed
16260624
uniprot
proteins
pubmed
16362043
uniprot
proteins
pubmed
1641332
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17924679
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
1906035
uniprot
proteins
pubmed
1906036
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20010808
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21518792
uniprot
proteins
pubmed
21518806
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
30538201
uniprot
proteins
pubmed
40965981
uniprot
proteins
sequence_length
557
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:40965981}. Cytoplasm {ECO:0000269|PubMed:40965981}. Cytoplasm, P-body {ECO:0000269|PubMed:40965981}.
uniprot
proteins