PQBP1
entrez
10084
canonical
uniprot
O60828
canonical
ensembl
ENSG00000102103
resolver
ensembl
ENSG00000292208
resolver
ensp
ENSP00000218224
resolver
ensp
ENSP00000247140
resolver
ensp
ENSP00000365747
resolver
ensp
ENSP00000365750
resolver
ensp
ENSP00000379985
resolver
ensp
ENSP00000391759
resolver
ensp
ENSP00000498362
resolver
ensp
ENSP00000545869
resolver
ensp
ENSP00000545870
resolver
ensp
ENSP00000666832
resolver
ensp
ENSP00000666833
resolver
ensp
ENSP00000666835
resolver
ensp
ENSP00000738683
resolver
ensp
ENSP00000738701
resolver
genesymbol
PQBP1
resolver
genesymbol_syn
NPW38
resolver
hgnc
HGNC:9330
resolver
uniprot
A0A0S2Z4V5
resolver
uniprot
C9JQA1
resolver
uniprot
Q4VY25
resolver
uniprot
Q4VY26
resolver
uniprot
Q4VY27
resolver
uniprot
Q4VY29
resolver
uniprot
Q4VY30
resolver
uniprot
Q4VY34
resolver
uniprot
Q4VY35
resolver
uniprot
Q4VY36
resolver
uniprot
Q4VY37
resolver
uniprot
Q4VY38
resolver
uniprot
Q9GZP2
resolver
uniprot
Q9GZU4
resolver
uniprot
Q9GZZ4
resolver
uniprot_entry
A0A0S2Z4V5_HUMAN
resolver
uniprot_entry
PQBP1_HUMAN
resolver
uniprot_sec
C9JQA1
resolver
uniprot_sec
Q4VY25
resolver
uniprot_sec
Q4VY26
resolver
uniprot_sec
Q4VY27
resolver
uniprot_sec
Q4VY29
resolver
uniprot_sec
Q4VY30
resolver
uniprot_sec
Q4VY34
resolver
uniprot_sec
Q4VY35
resolver
uniprot_sec
Q4VY36
resolver
uniprot_sec
Q4VY37
resolver
uniprot_sec
Q4VY38
resolver
uniprot_sec
Q9GZP2
resolver
uniprot_sec
Q9GZU4
resolver
uniprot_sec
Q9GZZ4
resolver
amino_acid_sequence
MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHDPNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERDRDRGYDKADREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQD
uniprot
proteins
disease_involvement
DISEASE: Renpenning syndrome 1 (RENS1) [MIM:309500]: An X-linked syndrome characterized by intellectual disability, microcephaly, short stature, and small testes. The craniofacies tends to be narrow and tall with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. {ECO:0000269|PubMed:14634649, ECO:0000269|PubMed:16740914, ECO:0000269|PubMed:20410308, ECO:0000269|PubMed:21315190, ECO:0000269|PubMed:23512658, ECO:0000269|PubMed:26046437}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Intrinsically disordered protein that acts as a scaffold, and which is involved in different processes, such as pre-mRNA splicing, transcription regulation, innate immunity and neuron development (PubMed:10198427, PubMed:10332029, PubMed:12062018, PubMed:20410308, PubMed:23512658). Interacts with splicing-related factors via the intrinsically disordered region and regulates alternative splicing of target pre-mRNA species (PubMed:10332029, PubMed:12062018, PubMed:20410308, PubMed:23512658). May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery (PubMed:10198427). May be involved in ATXN1 mutant-induced cell death (PubMed:12062018). The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit (PubMed:12062018). Involved in the assembly of cytoplasmic stress granule, possibly by participating in the transport of neuronal RNA granules (PubMed:21933836). Also acts as an innate immune sensor of infection by retroviruses, such as HIV, by detecting the presence of reverse-transcribed DNA in the cytosol (PubMed:26046437). Directly binds retroviral reverse-transcribed DNA in the cytosol and interacts with CGAS, leading to activate the cGAS-STING signaling pathway, triggering type-I interferon production (PubMed:26046437). {ECO:0000269|PubMed:10198427, ECO:0000269|PubMed:10332029, ECO:0000269|PubMed:12062018, ECO:0000269|PubMed:20410308, ECO:0000269|PubMed:21933836, ECO:0000269|PubMed:23512658, ECO:0000269|PubMed:26046437}.
uniprot
proteins
mass_dalton
30472
uniprot
proteins
mutagenesis
MUTAGEN 52; /note="W->A: Enhances transcriptional activation. Reduces transcriptional activation; when associated with A-75. Markedly reduced transcriptional activation; when associated with A-64; A-65 and A-66. Abolishes transcriptional activation; when associated with A-64; A-65; A-66 and A-75."; /evidence="ECO:0000269|PubMed:10198427"; MUTAGEN 64; /note="Y->A: No effect on transcriptional activation; when associated with A-65 and A-66. Markedly reduced transcriptional activation; when associated with A-52; A-65 and A-66. Abolishes transcriptional activation; when associated with A-52; A-65; A-66 and A-75."; /evidence="ECO:0000269|PubMed:10198427"; MUTAGEN 65; /note="Y->A: No effect on transcriptional activation; when associated with A-64 and A-66. Markedly reduced transcriptional activation; when associated with A-52; A-64 and A-66. Abolishes transcriptional activation; when associated with A-52; A-64; A-66 and A-75."; /evidence="ECO:0000269|PubMed:10198427"; MUTAGEN 66; /note="W->A: No effect on transcriptional activation; when associated with A-64 and A-65. Markedly reduced transcriptional activation; when associated with A-52; A-64 and A-65. Abolishes transcriptional activation; when associated with A-52; A-64; A-65 and A-75."; /evidence="ECO:0000269|PubMed:10198427"; MUTAGEN 75; /note="W->A: No effect on transcriptional activation. Reduces transcriptional activation; when associated with A-52. Abolishes transcriptional activation; when associated with A-52; A-64; A-65 and A-66."; /evidence="ECO:0000269|PubMed:10198427"; MUTAGEN 78; /note="P->G: No effect on transcriptional activation."; /evidence="ECO:0000269|PubMed:10198427"; MUTAGEN 245; /note="Y->D: Abolishes interaction with TXNL4A."; /evidence="ECO:0000269|PubMed:24781215"; MUTAGEN 248; /note="P->D: Abolishes interaction with TXNL4A."; /evidence="ECO:0000269|PubMed:24781215"; MUTAGEN 251; /note="V->D: Abolishes interaction with TXNL4A."; /evidence="ECO:0000269|PubMed:24781215"; MUTAGEN 252; /note="L->D: Abolishes interaction with TXNL4A."; /evidence="ECO:0000269|PubMed:24781215"; MUTAGEN 253; /note="R->D: Strongly reduces affinity for TXNL4A."; /evidence="ECO:0000269|PubMed:24781215"; MUTAGEN 255; /note="N->D: Strongly reduces affinity for TXNL4A."; /evidence="ECO:0000269|PubMed:24781215
uniprot
proteins
pubmed
10198427
uniprot
proteins
pubmed
10332029
uniprot
proteins
pubmed
10873650
uniprot
proteins
pubmed
11163963
uniprot
proteins
pubmed
12062018
uniprot
proteins
pubmed
14634649
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16740914
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19303059
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20410308
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21315190
uniprot
proteins
pubmed
21933836
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23512658
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24781215
uniprot
proteins
pubmed
26046437
uniprot
proteins
pubmed
26637798
uniprot
proteins
pubmed
27314904
uniprot
proteins
pubmed
28627366
uniprot
proteins
pubmed
9875212
uniprot
proteins
sequence_length
265
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10198427, ECO:0000269|PubMed:10332029, ECO:0000269|PubMed:12062018, ECO:0000269|PubMed:23512658}. Nucleus speckle {ECO:0000250|UniProtKB:Q91VJ5}. Cytoplasmic granule {ECO:0000269|PubMed:21933836}. Note=Colocalizes with SRSF2 in nuclear speckles (By similarity). Colocalized with POU3F2 (PubMed:10332029). Colocalized with ATXN1 in nuclear inclusion bodies (PubMed:12062018). Localizes to cytoplasmic stress granules (PubMed:21933836). {ECO:0000250|UniProtKB:Q91VJ5, ECO:0000269|PubMed:10332029, ECO:0000269|PubMed:12062018, ECO:0000269|PubMed:21933836}.
uniprot
proteins