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Protein

Polyglutamine-binding protein 1

Gene

PQBP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probably functions as scaffold protein that is part of numerous complexes and thereby plays a role in pre-mRNA splicing, transcription regulation and neuron development. Required for normal alternative splicing of target pre-mRNA species (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. May be involved in ATXN1 mutant-induced cell death. The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit.5 Publications

GO - Molecular functioni

  • DNA binding Source: ProtInc
  • ribonucleoprotein complex binding Source: MGI
  • transcription coactivator activity Source: ProtInc

GO - Biological processi

  • alternative mRNA splicing, via spliceosome Source: UniProtKB
  • neuron projection development Source: UniProtKB
  • regulation of dendrite morphogenesis Source: Ensembl
  • regulation of RNA splicing Source: MGI
  • regulation of transcription, DNA-templated Source: ProtInc
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

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 1
Short name:
PQBP-1
Alternative name(s):
38 kDa nuclear protein containing a WW domain
Short name:
Npw38
Polyglutamine tract-binding protein 1
Gene namesi
Name:PQBP1
Synonyms:NPW38
ORF Names:JM26
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:9330. PQBP1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • cytoplasmic stress granule Source: Ensembl
  • neuronal ribonucleoprotein granule Source: Ensembl
  • nuclear speck Source: UniProtKB
  • nucleoplasm Source: HPA
  • nucleus Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Renpenning syndrome 1 (RENS1)2 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, SF3B1 and ATN1. 3 PublicationsCorresponds to variant rs121917899dbSNPEnsembl.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.
TopDownProteomicsiO60828-1. [O60828-1]
O60828-2. [O60828-2]

PTM databases

iPTMnetiO60828.
PhosphoSitePlusiO60828.

Miscellaneous databases

PMAP-CutDBO60828.

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.
ExpressionAtlasiO60828. baseline and differential.
GenevisibleiO60828. HS.

Organism-specific databases

HPAiHPA001880.

Interactioni

Subunit structurei

Interacts with POU3F2/Brn-2, ATXN1, TXNL4A, HTT and AR. Interaction with ATXN1 correlates positively with the length of the polyglutamine tract. Interacts with RNA polymerase II large subunit in a phosphorylation-dependent manner. Forms a ternary complex with ATXN1 mutant and phosphorylated RNA polymerase II. Interacts (via C-terminus) with TXNL4A and CD2BP2. Interacts (via WW domain) with ATN1, WBP11 and SF3B1, and may interact with additional splice factors.8 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
GOLGA2Q083793EBI-713867,EBI-618309
LZTS2Q9BRK43EBI-713867,EBI-741037
MAPRE1Q156915EBI-713867,EBI-1004115
WBP11Q9Y2W23EBI-713867,EBI-714455

Protein-protein interaction databases

BioGridi115393. 47 interactors.
IntActiO60828. 23 interactors.
MINTiMINT-112545.
STRINGi9606.ENSP00000218224.

Structurei

Secondary structure

1265
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi248 – 258Combined sources11

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...

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 disorderedAdd 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.
Except for the WW domain, the protein is intrinsically disordered.

Sequence similaritiesi

Contains 1 WW domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3427. Eukaryota.
ENOG4111MHA. LUCA.
GeneTreeiENSGT00390000001905.
HOVERGENiHBG053064.
InParanoidiO60828.
KOiK12865.
OMAiKSDRSHD.
OrthoDBiEOG091G0H7P.
PhylomeDBiO60828.
TreeFamiTF320689.

Family and domain databases

InterProiIPR001202. WW_dom.
[Graphical view]
SMARTiSM00456. WW. 1 hit.
[Graphical view]
SUPFAMiSSF51045. SSF51045. 1 hit.
PROSITEiPS50020. WW_DOMAIN_2. 1 hit.
[Graphical view]

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

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

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, SF3B1 and ATN1. 3 PublicationsCorresponds to variant rs121917899dbSNPEnsembl.1
Natural variantiVAR_036357224R → W in a colorectal cancer sample; somatic mutation. 1 Publication1

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.
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

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.
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. 47 interactors.
IntActiO60828. 23 interactors.
MINTiMINT-112545.
STRINGi9606.ENSP00000218224.

PTM databases

iPTMnetiO60828.
PhosphoSitePlusiO60828.

Polymorphism and mutation databases

BioMutaiPQBP1.

Proteomic databases

EPDiO60828.
MaxQBiO60828.
PaxDbiO60828.
PeptideAtlasiO60828.
PRIDEiO60828.
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.
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.
HOVERGENiHBG053064.
InParanoidiO60828.
KOiK12865.
OMAiKSDRSHD.
OrthoDBiEOG091G0H7P.
PhylomeDBiO60828.
TreeFamiTF320689.

Enzyme and pathway databases

ReactomeiR-HSA-72163. mRNA Splicing - Major Pathway.
SignaLinkiO60828.

Miscellaneous databases

ChiTaRSiPQBP1. human.
GeneWikiiPQBP1.
GenomeRNAii10084.
PMAP-CutDBO60828.
PROiO60828.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102103.
ExpressionAtlasiO60828. baseline and differential.
GenevisibleiO60828. HS.

Family and domain databases

InterProiIPR001202. WW_dom.
[Graphical view]
SMARTiSM00456. WW. 1 hit.
[Graphical view]
SUPFAMiSSF51045. SSF51045. 1 hit.
PROSITEiPS50020. WW_DOMAIN_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPQBP1_HUMAN
AccessioniPrimary (citable) accession number: O60828
Secondary accession number(s): Q4VY25
, Q4VY26, Q4VY27, Q4VY29, Q4VY30, Q4VY34, Q4VY35, Q4VY36, Q4VY37, Q4VY38, Q9GZP2, Q9GZU4, Q9GZZ4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: August 1, 1998
Last modified: November 30, 2016
This is version 150 of the entry and version 1 of the sequence. [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 chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.