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Protein

Polyglutamine-binding protein 1

Gene

PQBP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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:23512658, PubMed:20410308). 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 to 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).7 Publications

GO - Molecular functioni

  • DNA binding Source: ProtInc
  • double-stranded DNA binding Source: UniProtKB
  • ribonucleoprotein complex binding Source: MGI
  • transcription coactivator activity Source: ProtInc

GO - Biological processi

Keywordsi

Biological processImmunity, Innate immunity, mRNA processing, mRNA splicing, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-72163 mRNA Splicing - Major Pathway
SignaLinkiO60828

Names & Taxonomyi

Protein namesi
Recommended name:
Polyglutamine-binding protein 12 Publications
Short name:
PQBP-12 Publications
Alternative name(s):
38 kDa nuclear protein containing a WW domain1 Publication
Short name:
Npw381 Publication
Polyglutamine tract-binding protein 11 Publication
Gene namesi
Name:PQBP12 PublicationsImported
Synonyms:NPW381 Publication
ORF Names:JM26
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000102103.15
HGNCiHGNC:9330 PQBP1
MIMi300463 gene
neXtProtiNX_O60828

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Renpenning syndrome 1 (RENS1)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA X-linked mental retardation syndrome characterized by mental retardation, 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.
See also OMIM:309500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07106365Y → C in RENS1; impairs interaction with WBP11, CGAS, SF3B1 and ATN1. 4 PublicationsCorresponds to variant dbSNP:rs121917899EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi52W → 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. 1 Publication1
Mutagenesisi64Y → 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. 1 Publication1
Mutagenesisi65Y → 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. 1 Publication1
Mutagenesisi66W → 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. 1 Publication1
Mutagenesisi75W → 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. 1 Publication1
Mutagenesisi78P → G: No effect on transcriptional activation. 1 Publication1
Mutagenesisi245Y → D: Abolishes interaction with TXNL4A. 1 Publication1
Mutagenesisi248P → D: Abolishes interaction with TXNL4A. 1 Publication1
Mutagenesisi251V → D: Abolishes interaction with TXNL4A. 1 Publication1
Mutagenesisi252L → D: Abolishes interaction with TXNL4A. 1 Publication1
Mutagenesisi253R → D: Strongly reduces affinity for TXNL4A. 1 Publication1
Mutagenesisi255N → D: Strongly reduces affinity for TXNL4A. 1 Publication1

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNETi10084
MalaCardsiPQBP1
MIMi309500 phenotype
OpenTargetsiENSG00000102103
Orphaneti93946 Hamel cerebro-palato-cardiac syndrome
93947 X-linked intellectual disability, Golabi-Ito-Hall type
93945 X-linked intellectual disability, Porteous type
93950 X-linked intellectual disability, Sutherland-Haan type
PharmGKBiPA33693

Polymorphism and mutation databases

BioMutaiPQBP1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00000760892 – 265Polyglutamine-binding protein 1Add BLAST264

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei94PhosphoserineCombined sources1
Modified residuei247PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO60828
MaxQBiO60828
PaxDbiO60828
PeptideAtlasiO60828
PRIDEiO60828
ProteomicsDBi49611
49612 [O60828-10]
49613 [O60828-2]
49614 [O60828-3]
49615 [O60828-4]
49616 [O60828-5]
49617 [O60828-6]
49618 [O60828-7]
49619 [O60828-8]
49620 [O60828-9]
TopDownProteomicsiO60828-1 [O60828-1]
O60828-2 [O60828-2]

PTM databases

iPTMnetiO60828
PhosphoSitePlusiO60828

Miscellaneous databases

PMAP-CutDBiO60828

Expressioni

Tissue specificityi

Widely expressed with high level in heart, skeletal muscle, pancreas, spleen, thymus, prostate, ovary, small intestine and peripheral blood leukocytes.2 Publications

Gene expression databases

BgeeiENSG00000102103 Expressed in 231 organ(s), highest expression level in ectocervix
ExpressionAtlasiO60828 baseline and differential
GenevisibleiO60828 HS

Organism-specific databases

HPAiHPA001880

Interactioni

Subunit structurei

Interacts with POU3F2/Brn-2, ATXN1, TXNL4A, HTT and AR (PubMed:10332029, PubMed:10873650, PubMed:19303059, PubMed:24781215). Interaction with ATXN1 correlates positively with the length of the polyglutamine tract (PubMed:12062018). Interacts with RNA polymerase II large subunit in a phosphorylation-dependent manner (PubMed:12062018). Forms a ternary complex with ATXN1 mutant and phosphorylated RNA polymerase II (PubMed:12062018). Interacts (via C-terminus) with TXNL4A and CD2BP2 (PubMed:10873650, PubMed:19303059, PubMed:24781215). Interacts (via WW domain) with ATN1 and SF3B1, and may interact with additional splice factors (PubMed:23512658, PubMed:20410308). Interacts (via WW domain) with WBP11; Leading to reduce interaction between PQBP1 and TXNL4A (PubMed:23512658, PubMed:20410308, PubMed:27314904). Interacts with CAPRIN1 (PubMed:21933836). Interacts with DDX1 (PubMed:21933836). Interacts with SFPQ (PubMed:21933836). Interacts with KHSRP (PubMed:21933836).10 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi115393, 52 interactors
IntActiO60828, 25 interactors
MINTiO60828
STRINGi9606.ENSP00000218224

Structurei

Secondary structure

1265
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO60828
SMRiO60828
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini46 – 80WWPROSITE-ProRule annotationAdd BLAST35
Repeati104 – 1101-17
Repeati111 – 1171-27
Repeati118 – 1241-37
Repeati125 – 1311-47
Repeati132 – 1381-57
Repeati139 – 1402-12
Repeati141 – 1422-22
Repeati143 – 1442-32
Repeati150 – 1513-12
Repeati152 – 1533-22
Repeati154 – 1553-32
Repeati156 – 1573-42
Repeati158 – 1593-52
Repeati160 – 1613-62
Repeati162 – 1633-72

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni94 – 265Intrinsically disordered1 PublicationAdd BLAST172
Regioni104 – 1385 X 7 AA approximate tandem repeats of D-R-[SG]-H-D-K-SAdd BLAST35
Regioni139 – 1443 X 2 AA tandem repeats of [DE]-R6
Regioni150 – 1637 X 2 AA tandem repeats of [DE]-RAdd BLAST14
Regioni245 – 255Important for interaction with TXNL4AAdd BLAST11

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi140 – 181Arg-richAdd BLAST42

Domaini

The WW domain may play a role as a transcriptional activator directly or via association with the transcription machinery. The WW domain mediates interaction with WBP11, ATN1, SF3B1 and the C-terminal domain of the RNA polymerase II large subunit.2 Publications
Except for the WW domain, the protein is intrinsically disordered.2 Publications

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3427 Eukaryota
ENOG4111MHA LUCA
GeneTreeiENSGT00390000001905
HOGENOMiHOG000231359
HOVERGENiHBG053064
InParanoidiO60828
KOiK12865
OMAiSHEKSDR
OrthoDBiEOG091G0H7P
PhylomeDBiO60828
TreeFamiTF320689

Family and domain databases

CDDicd00201 WW, 1 hit
InterProiView protein in InterPro
IPR001202 WW_dom
IPR036020 WW_dom_sf
SMARTiView protein in SMART
SM00456 WW, 1 hit
SUPFAMiSSF51045 SSF51045, 1 hit
PROSITEiView protein in PROSITE
PS50020 WW_DOMAIN_2, 1 hit

Sequences (10+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 10 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 10 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: O60828-1) [UniParc]FASTAAdd to basket
Also known as: PQBP-1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPLPVALQTR LAKRGILKHL EPEPEEEIIA EDYDDDPVDY EATRLEGLPP
60 70 80 90 100
SWYKVFDPSC GLPYYWNADT DLVSWLSPHD PNSVVTKSAK KLRSSNADAE
110 120 130 140 150
EKLDRSHDKS DRGHDKSDRS HEKLDRGHDK SDRGHDKSDR DRERGYDKVD
160 170 180 190 200
RERERDRERD RDRGYDKADR EEGKERRHHR REELAPYPKS KKAVSRKDEE
210 220 230 240 250
LDPMDPSSYS DAPRGTWSTG LPKRNEAKTG ADTTAAGPLF QQRPYPSPGA
260
VLRANAEASR TKQQD
Length:265
Mass (Da):30,472
Last modified:August 1, 1998 - v1
Checksum:i98C3BEF18CFF0297
GO
Isoform 2 (identifier: O60828-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     193-193: Missing.

Show »
Length:264
Mass (Da):30,401
Checksum:i56BBC35A4CFB41C0
GO
Isoform 3 (identifier: O60828-3) [UniParc]FASTAAdd to basket
Also known as: PQBP-1b/c

The sequence of this isoform differs from the canonical sequence as follows:
     193-224: AVSRKDEELDPMDPSSYSDAPRGTWSTGLPKR → GKLGRMGLGETNKVQGALREEAFPQKDAWTWG
     225-265: Missing.

Show »
Length:224
Mass (Da):26,158
Checksum:i7DAC3C07D84492F0
GO
Isoform 4 (identifier: O60828-4) [UniParc]FASTAAdd to basket
Also known as: PQBP-1d

The sequence of this isoform differs from the canonical sequence as follows:
     98-192: Missing.

Show »
Length:170
Mass (Da):18,827
Checksum:iD01C0EAB17B61307
GO
Isoform 5 (identifier: O60828-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     68-167: Missing.

Show »
Length:165
Mass (Da):18,706
Checksum:iA32760CAAEFE5751
GO
Isoform 6 (identifier: O60828-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     149-149: V → Q
     150-265: Missing.

Show »
Length:149
Mass (Da):17,183
Checksum:i88C7259FF95C0501
GO
Isoform 7 (identifier: O60828-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     99-128: AEEKLDRSHDKSDRGHDKSDRSHEKLDRGH → LCPQMLKKSWTGAMTSRTGAMTSRTAAMRN
     129-265: Missing.

Show »
Length:128
Mass (Da):14,383
Checksum:i1000C586B57B3758
GO
Isoform 8 (identifier: O60828-8) [UniParc]FASTAAdd to basket
Also known as: PQBP-1a

The sequence of this isoform differs from the canonical sequence as follows:
     55-73: VFDPSCGLPYYWNADTDLV → RAPLLLECRHRPCILALPT
     74-265: Missing.

Show »
Length:73
Mass (Da):8,404
Checksum:iEF932C61145DC023
GO
Isoform 9 (identifier: O60828-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     61-67: GLPYYWN → PGWSAMV
     68-265: Missing.

Show »
Length:67
Mass (Da):7,627
Checksum:iF7FA61EC5E06DE6D
GO
Isoform 10 (identifier: O60828-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     60-60: C → W
     61-265: Missing.

Show »
Length:60
Mass (Da):6,981
Checksum:i1025785C46650A62
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C053H7C053_HUMAN
Polyglutamine-binding protein 1
PQBP1
150Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti8Q → L in CAJ00539 (Ref. 4) Curated1
Sequence conflicti57D → N in CAJ00548 (Ref. 4) Curated1
Sequence conflicti107 – 113Missing in CAJ00538 (Ref. 4) Curated7
Sequence conflicti107 – 113Missing in CAJ00539 (Ref. 4) Curated7
Sequence conflicti107 – 113Missing in CAJ00540 (Ref. 4) Curated7
Sequence conflicti107 – 113Missing in CAJ00541 (Ref. 4) Curated7
Sequence conflicti107H → Q in CAJ00549 (Ref. 4) Curated1
Sequence conflicti147D → G in CAJ00549 (Ref. 4) Curated1
Sequence conflicti198D → G in CAJ00549 (Ref. 4) Curated1
Sequence conflicti236A → V in CAJ00548 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07106365Y → C in RENS1; impairs interaction with WBP11, CGAS, SF3B1 and ATN1. 4 PublicationsCorresponds to variant dbSNP:rs121917899EnsemblClinVar.1
Natural variantiVAR_036357224R → W in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_078695244P → L Probable disease-associated mutation found in a patient with autism. 1 PublicationCorresponds to variant dbSNP:rs878853145EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01589655 – 73VFDPS…DTDLV → RAPLLLECRHRPCILALPT in isoform 8. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_01589760C → W in isoform 10. 1 Publication1
Alternative sequenceiVSP_01589861 – 265Missing in isoform 10. 1 PublicationAdd BLAST205
Alternative sequenceiVSP_01589961 – 67GLPYYWN → PGWSAMV in isoform 9. 1 Publication7
Alternative sequenceiVSP_01590168 – 265Missing in isoform 9. 1 PublicationAdd BLAST198
Alternative sequenceiVSP_01590068 – 167Missing in isoform 5. 1 PublicationAdd BLAST100
Alternative sequenceiVSP_01590274 – 265Missing in isoform 8. 1 PublicationAdd BLAST192
Alternative sequenceiVSP_01590398 – 192Missing in isoform 4. 2 PublicationsAdd BLAST95
Alternative sequenceiVSP_01590499 – 128AEEKL…LDRGH → LCPQMLKKSWTGAMTSRTGA MTSRTAAMRN in isoform 7. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_015905129 – 265Missing in isoform 7. 1 PublicationAdd BLAST137
Alternative sequenceiVSP_015906149V → Q in isoform 6. 1 Publication1
Alternative sequenceiVSP_015907150 – 265Missing in isoform 6. 1 PublicationAdd BLAST116
Alternative sequenceiVSP_015908193 – 224AVSRK…GLPKR → GKLGRMGLGETNKVQGALRE EAFPQKDAWTWG in isoform 3. 2 PublicationsAdd BLAST32
Alternative sequenceiVSP_015909193Missing in isoform 2. 1 Publication1
Alternative sequenceiVSP_015910225 – 265Missing in isoform 3. 2 PublicationsAdd BLAST41

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ242829 mRNA Translation: CAB44309.1
AB016533 mRNA Translation: BAA76400.1
AB041832 Genomic DNA Translation: BAB16702.1
AB041832 Genomic DNA Translation: BAB16703.1
AB041832 Genomic DNA Translation: BAB16704.1
AB041832 Genomic DNA Translation: BAB16705.1
AB041833 mRNA Translation: BAB16706.1
AB041834 mRNA Translation: BAB16707.1
AB041835 mRNA Translation: BAB16708.1
AB041836 mRNA Translation: BAB16709.1
AJ973593 mRNA Translation: CAJ00537.1
AJ973594 mRNA Translation: CAJ00538.1
AJ973595 mRNA Translation: CAJ00539.1
AJ973596 mRNA Translation: CAJ00540.1
AJ973597 mRNA Translation: CAJ00541.1
AJ973598 mRNA Translation: CAJ00542.1
AJ973599 mRNA Translation: CAJ00543.1
AJ973600 mRNA Translation: CAJ00544.1
AJ973601 mRNA Translation: CAJ00545.1
AJ973602 mRNA Translation: CAJ00546.1
AJ973603 mRNA Translation: CAJ00547.1
AJ973605 mRNA Translation: CAJ00548.1
AJ973606 mRNA Translation: CAJ00549.1
AJ973607 mRNA Translation: CAJ00550.1
AJ005893 mRNA Translation: CAA06750.1
AC233300 Genomic DNA No translation available.
BC012358 mRNA Translation: AAH12358.1
CCDSiCCDS14309.1 [O60828-1]
CCDS55412.1 [O60828-4]
RefSeqiNP_001027553.1, NM_001032381.1 [O60828-1]
NP_001027554.1, NM_001032382.1 [O60828-1]
NP_001027555.1, NM_001032383.1 [O60828-1]
NP_001027556.1, NM_001032384.1 [O60828-1]
NP_001161461.1, NM_001167989.1 [O60828-2]
NP_001161462.1, NM_001167990.1
NP_001161464.1, NM_001167992.1 [O60828-5]
NP_005701.1, NM_005710.2 [O60828-1]
NP_652766.1, NM_144495.2 [O60828-4]
XP_005272628.1, XM_005272571.3 [O60828-2]
XP_005272629.1, XM_005272572.4 [O60828-4]
XP_011542186.1, XM_011543884.2 [O60828-1]
XP_016884696.1, XM_017029207.1 [O60828-2]
UniGeneiHs.534384

Genome annotation databases

EnsembliENST00000218224; ENSP00000218224; ENSG00000102103 [O60828-1]
ENST00000247140; ENSP00000247140; ENSG00000102103 [O60828-4]
ENST00000376563; ENSP00000365747; ENSG00000102103 [O60828-1]
ENST00000376566; ENSP00000365750; ENSG00000102103 [O60828-4]
ENST00000396763; ENSP00000379985; ENSG00000102103 [O60828-1]
ENST00000447146; ENSP00000391759; ENSG00000102103 [O60828-1]
GeneIDi10084
KEGGihsa:10084
UCSCiuc004dle.4 human [O60828-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ242829 mRNA Translation: CAB44309.1
AB016533 mRNA Translation: BAA76400.1
AB041832 Genomic DNA Translation: BAB16702.1
AB041832 Genomic DNA Translation: BAB16703.1
AB041832 Genomic DNA Translation: BAB16704.1
AB041832 Genomic DNA Translation: BAB16705.1
AB041833 mRNA Translation: BAB16706.1
AB041834 mRNA Translation: BAB16707.1
AB041835 mRNA Translation: BAB16708.1
AB041836 mRNA Translation: BAB16709.1
AJ973593 mRNA Translation: CAJ00537.1
AJ973594 mRNA Translation: CAJ00538.1
AJ973595 mRNA Translation: CAJ00539.1
AJ973596 mRNA Translation: CAJ00540.1
AJ973597 mRNA Translation: CAJ00541.1
AJ973598 mRNA Translation: CAJ00542.1
AJ973599 mRNA Translation: CAJ00543.1
AJ973600 mRNA Translation: CAJ00544.1
AJ973601 mRNA Translation: CAJ00545.1
AJ973602 mRNA Translation: CAJ00546.1
AJ973603 mRNA Translation: CAJ00547.1
AJ973605 mRNA Translation: CAJ00548.1
AJ973606 mRNA Translation: CAJ00549.1
AJ973607 mRNA Translation: CAJ00550.1
AJ005893 mRNA Translation: CAA06750.1
AC233300 Genomic DNA No translation available.
BC012358 mRNA Translation: AAH12358.1
CCDSiCCDS14309.1 [O60828-1]
CCDS55412.1 [O60828-4]
RefSeqiNP_001027553.1, NM_001032381.1 [O60828-1]
NP_001027554.1, NM_001032382.1 [O60828-1]
NP_001027555.1, NM_001032383.1 [O60828-1]
NP_001027556.1, NM_001032384.1 [O60828-1]
NP_001161461.1, NM_001167989.1 [O60828-2]
NP_001161462.1, NM_001167990.1
NP_001161464.1, NM_001167992.1 [O60828-5]
NP_005701.1, NM_005710.2 [O60828-1]
NP_652766.1, NM_144495.2 [O60828-4]
XP_005272628.1, XM_005272571.3 [O60828-2]
XP_005272629.1, XM_005272572.4 [O60828-4]
XP_011542186.1, XM_011543884.2 [O60828-1]
XP_016884696.1, XM_017029207.1 [O60828-2]
UniGeneiHs.534384

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4BWQX-ray2.10B/D/F/H223-265[»]
4BWSX-ray2.50B/E229-265[»]
4CDOX-ray2.50A/C223-265[»]
ProteinModelPortaliO60828
SMRiO60828
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115393, 52 interactors
IntActiO60828, 25 interactors
MINTiO60828
STRINGi9606.ENSP00000218224

PTM databases

iPTMnetiO60828
PhosphoSitePlusiO60828

Polymorphism and mutation databases

BioMutaiPQBP1

Proteomic databases

EPDiO60828
MaxQBiO60828
PaxDbiO60828
PeptideAtlasiO60828
PRIDEiO60828
ProteomicsDBi49611
49612 [O60828-10]
49613 [O60828-2]
49614 [O60828-3]
49615 [O60828-4]
49616 [O60828-5]
49617 [O60828-6]
49618 [O60828-7]
49619 [O60828-8]
49620 [O60828-9]
TopDownProteomicsiO60828-1 [O60828-1]
O60828-2 [O60828-2]

Protocols and materials databases

DNASUi10084
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000218224; ENSP00000218224; ENSG00000102103 [O60828-1]
ENST00000247140; ENSP00000247140; ENSG00000102103 [O60828-4]
ENST00000376563; ENSP00000365747; ENSG00000102103 [O60828-1]
ENST00000376566; ENSP00000365750; ENSG00000102103 [O60828-4]
ENST00000396763; ENSP00000379985; ENSG00000102103 [O60828-1]
ENST00000447146; ENSP00000391759; ENSG00000102103 [O60828-1]
GeneIDi10084
KEGGihsa:10084
UCSCiuc004dle.4 human [O60828-1]

Organism-specific databases

CTDi10084
DisGeNETi10084
EuPathDBiHostDB:ENSG00000102103.15
GeneCardsiPQBP1
HGNCiHGNC:9330 PQBP1
HPAiHPA001880
MalaCardsiPQBP1
MIMi300463 gene
309500 phenotype
neXtProtiNX_O60828
OpenTargetsiENSG00000102103
Orphaneti93946 Hamel cerebro-palato-cardiac syndrome
93947 X-linked intellectual disability, Golabi-Ito-Hall type
93945 X-linked intellectual disability, Porteous type
93950 X-linked intellectual disability, Sutherland-Haan type
PharmGKBiPA33693
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3427 Eukaryota
ENOG4111MHA LUCA
GeneTreeiENSGT00390000001905
HOGENOMiHOG000231359
HOVERGENiHBG053064
InParanoidiO60828
KOiK12865
OMAiSHEKSDR
OrthoDBiEOG091G0H7P
PhylomeDBiO60828
TreeFamiTF320689

Enzyme and pathway databases

ReactomeiR-HSA-72163 mRNA Splicing - Major Pathway
SignaLinkiO60828

Miscellaneous databases

ChiTaRSiPQBP1 human
GeneWikiiPQBP1
GenomeRNAii10084
PMAP-CutDBiO60828
PROiPR:O60828
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102103 Expressed in 231 organ(s), highest expression level in ectocervix
ExpressionAtlasiO60828 baseline and differential
GenevisibleiO60828 HS

Family and domain databases

CDDicd00201 WW, 1 hit
InterProiView protein in InterPro
IPR001202 WW_dom
IPR036020 WW_dom_sf
SMARTiView protein in SMART
SM00456 WW, 1 hit
SUPFAMiSSF51045 SSF51045, 1 hit
PROSITEiView protein in PROSITE
PS50020 WW_DOMAIN_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPQBP1_HUMAN
AccessioniPrimary (citable) accession number: O60828
Secondary accession number(s): C9JQA1
, Q4VY25, Q4VY26, Q4VY27, Q4VY29, Q4VY30, Q4VY34, Q4VY35, Q4VY36, Q4VY37, Q4VY38, Q9GZP2, Q9GZU4, Q9GZZ4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: August 1, 1998
Last modified: November 7, 2018
This is version 167 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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