PQBP1 polyglutamine binding protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PQBP1provided by HGNC
Official Full Name: polyglutamine binding protein 1provided by HGNC
Primary source: HGNC:HGNC:9330
See related: Ensembl:ENSG00000102103 MIM:300463; AllianceGenome:HGNC:9330
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SHS; MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1
Summary: This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]
Expression: Ubiquitous expression in ovary (RPKM 25.3), adrenal (RPKM 17.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp11.23

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (48897930..48903143)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (48308411..48313619)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (48755213..48760420)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Splicing Factor PQBP1 Curtails BAX Expression to Promote Ovarian Cancer Progression.
Title: Splicing Factor PQBP1 Curtails BAX Expression to Promote Ovarian Cancer Progression.
The role of PQBP1 in neural development and function.
Title: The role of PQBP1 in neural development and function.
PQBP1: The Key to Intellectual Disability, Neurodegenerative Diseases, and Innate Immunity.
Title: PQBP1: The Key to Intellectual Disability, Neurodegenerative Diseases, and Innate Immunity.
Novel regulation of the eEF2K/eEF2 pathway: prospects of 'PQBP1 promotes translational elongation and regulates hippocampal mGluR-LTD by suppressing eEF2 phosphorylation'.
Title: Novel regulation of the eEF2K/eEF2 pathway: prospects of 'PQBP1 promotes translational elongation and regulates hippocampal mGluR-LTD by suppressing eEF2 phosphorylation'.
Tau activates microglia via the PQBP1-cGAS-STING pathway to promote brain inflammation.
Title: Tau activates microglia via the PQBP1-cGAS-STING pathway to promote brain inflammation.
Fatal Attraction: The Case of Toxic Soluble Dimers of Truncated PQBP-1 Mutants in X-Linked Intellectual Disability.
Title: Fatal Attraction: The Case of Toxic Soluble Dimers of Truncated PQBP-1 Mutants in X-Linked Intellectual Disability.
PQBP1 promotes translational elongation and regulates hippocampal mGluR-LTD by suppressing eEF2 phosphorylation.
Title: PQBP1 promotes translational elongation and regulates hippocampal mGluR-LTD by suppressing eEF2 phosphorylation.
Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population.
Title: Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population.
Renpenning syndrome in an Indian patient.
Title: Renpenning syndrome in an Indian patient.
Renpenning syndrome in a female.
Title: Renpenning syndrome in a female.

Submit: New GeneRIF Correction See all GeneRIFs (37)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Renpenning syndrome MedGen: C0796135 OMIM: 309500 GeneReviews: Not available	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-04-09) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-09) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXMit3 (e-PCR), detects polymorphism
- UniSTS:239878

D11S2920 (e-PCR)
- UniSTS:152073

STS-R01143 (e-PCR)
- UniSTS:14165

DXS1068 (e-PCR), detects polymorphism
- UniSTS:33109

DXS1039 (e-PCR), detects polymorphism
- UniSTS:37211

D11S2593 (e-PCR)
- UniSTS:5517

PMC92356P1 (e-PCR)
- UniSTS:273614

D11S2591 (e-PCR)
- UniSTS:18383

PQBP1__5573 (e-PCR)
- UniSTS:463825

D11S2618 (e-PCR)
- UniSTS:34770

D11S2846 (e-PCR)
- UniSTS:152030

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	TAS Traceable Author Statement more info	PubMed
enables double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ribonucleoprotein complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables ribonucleoprotein complex binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in activation of innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in alternative mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in alternative mRNA splicing, via spliceosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to exogenous dsRNA	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of defense response to virus by host	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of type I interferon production	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within regulation of RNA splicing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of dendrite morphogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic stress granule	IEA Inferred from Electronic Annotation more info
located_in neuronal ribonucleoprotein granule	IEA Inferred from Electronic Annotation more info
is_active_in nuclear body	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nuclear speck	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: polyglutamine-binding protein 1

Names: 38 kDa nuclear protein containing a WW domain; polyglutamine tract-binding protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_015967.2 RefSeqGene

Range

5002..10215

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001032381.2 → NP_001027553.1 polyglutamine-binding protein 1 isoform 1

See identical proteins and their annotated locations for NP_001027553.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 all encode the same protein (isoform 1).

Source sequence(s)

BC012358, CN292761

Consensus CDS

CCDS14309.1

UniProtKB/Swiss-Prot

C9JQA1, O60828, Q4VY25, Q4VY26, Q4VY27, Q4VY29, Q4VY30, Q4VY34, Q4VY35, Q4VY36, Q4VY37, Q4VY38, Q9GZP2, Q9GZU4, Q9GZZ4

UniProtKB/TrEMBL

A0A0S2Z4V5, A0A0S2Z556

Related

ENSP00000365747.1, ENST00000376563.6

Conserved Domains (1) summary

smart00456
Location:47 → 78

WW; Domain with 2 conserved Trp (W) residues
NM_001032382.2 → NP_001027554.1 polyglutamine-binding protein 1 isoform 1

See identical proteins and their annotated locations for NP_001027554.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 all encode the same protein (isoform 1).

Source sequence(s)

AB016533, BC012358, CN292761

Consensus CDS

CCDS14309.1

UniProtKB/Swiss-Prot

C9JQA1, O60828, Q4VY25, Q4VY26, Q4VY27, Q4VY29, Q4VY30, Q4VY34, Q4VY35, Q4VY36, Q4VY37, Q4VY38, Q9GZP2, Q9GZU4, Q9GZZ4

UniProtKB/TrEMBL

A0A0S2Z4V5, A0A0S2Z556

Related

ENSP00000391759.2, ENST00000447146.7

Conserved Domains (1) summary

smart00456
Location:47 → 78

WW; Domain with 2 conserved Trp (W) residues
NM_001032383.2 → NP_001027555.1 polyglutamine-binding protein 1 isoform 1

See identical proteins and their annotated locations for NP_001027555.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 all encode the same protein (isoform 1).

Source sequence(s)

BC012358, BX362311, CN292761

Consensus CDS

CCDS14309.1

UniProtKB/Swiss-Prot

C9JQA1, O60828, Q4VY25, Q4VY26, Q4VY27, Q4VY29, Q4VY30, Q4VY34, Q4VY35, Q4VY36, Q4VY37, Q4VY38, Q9GZP2, Q9GZU4, Q9GZZ4

UniProtKB/TrEMBL

A0A0S2Z4V5, A0A0S2Z556

Related

ENSP00000498362.1, ENST00000651767.1

Conserved Domains (1) summary

smart00456
Location:47 → 78

WW; Domain with 2 conserved Trp (W) residues
NM_001032384.1 → NP_001027556.1 polyglutamine-binding protein 1 isoform 1

See identical proteins and their annotated locations for NP_001027556.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 all encode the same protein (isoform 1).

Source sequence(s)

AJ005893, BC012358, BE396796

Consensus CDS

CCDS14309.1

UniProtKB/Swiss-Prot

C9JQA1, O60828, Q4VY25, Q4VY26, Q4VY27, Q4VY29, Q4VY30, Q4VY34, Q4VY35, Q4VY36, Q4VY37, Q4VY38, Q9GZP2, Q9GZU4, Q9GZZ4

UniProtKB/TrEMBL

A0A0S2Z4V5, A0A0S2Z556

Related

ENSP00000379985.1, ENST00000396763.6

Conserved Domains (1) summary

smart00456
Location:47 → 78

WW; Domain with 2 conserved Trp (W) residues
NM_001167989.2 → NP_001161461.1 polyglutamine-binding protein 1 isoform 4

See identical proteins and their annotated locations for NP_001161461.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' UTR and uses a different splice site in the 3' coding region, compared to variant 1. The resulting protein (isoform 4) is shorter by 1 aa when it is compared to isoform 1.

Source sequence(s)

AJ973597, AJ973606, BE385548, BI818141, CD365745, CN292761

UniProtKB/TrEMBL

A0A0S2Z556

Conserved Domains (1) summary

smart00456
Location:47 → 78

WW; Domain with 2 conserved Trp (W) residues
NM_001167990.2 → NP_001161462.1 polyglutamine-binding protein 1 isoform 5

See identical proteins and their annotated locations for NP_001161462.1

Status: REVIEWED

Description

Transcript Variant: This variant (9) differs in the 5' UTR and uses a different splice site in the coding region, compared to variant 1. The resulting protein (isoform 5) is shorter when it is compared to isoform 1.

Source sequence(s)

BC012358, CD051018

UniProtKB/TrEMBL

A0A0S2Z556
NM_001167992.1 → NP_001161464.1 polyglutamine-binding protein 1 isoform 6

See identical proteins and their annotated locations for NP_001161464.1

Status: REVIEWED

Description

Transcript Variant: This variant (10) lacks a 5' UTR and uses different splice sites in the coding region, compared to variant 1. The resulting protein (isoform 6) is shorter when it is compared to isoform 1.

Source sequence(s)

AJ973605, BC012358, CN292761

UniProtKB/Swiss-Prot

O60828
NM_005710.2 → NP_005701.1 polyglutamine-binding protein 1 isoform 1

See identical proteins and their annotated locations for NP_005701.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2, 3, 4, and 5 all encode the same protein (isoform 1).

Source sequence(s)

AJ005893, BC012358

Consensus CDS

CCDS14309.1

UniProtKB/Swiss-Prot

C9JQA1, O60828, Q4VY25, Q4VY26, Q4VY27, Q4VY29, Q4VY30, Q4VY34, Q4VY35, Q4VY36, Q4VY37, Q4VY38, Q9GZP2, Q9GZU4, Q9GZZ4

UniProtKB/TrEMBL

A0A0S2Z4V5, A0A0S2Z556

Related

ENSP00000218224.4, ENST00000218224.9

Conserved Domains (1) summary

smart00456
Location:47 → 78

WW; Domain with 2 conserved Trp (W) residues
NM_144495.3 → NP_652766.1 polyglutamine-binding protein 1 isoform 3

See identical proteins and their annotated locations for NP_652766.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) contains a different 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1. Variant 7 is also known as variant PQBP-1d.

Source sequence(s)

AJ973593, BC012358, CN292761

Consensus CDS

CCDS55412.1

UniProtKB/Swiss-Prot

O60828

Related

ENSP00000365750.4, ENST00000376566.8

Conserved Domains (1) summary

smart00456
Location:47 → 78

WW; Domain with 2 conserved Trp (W) residues

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

48897930..48903143

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017029207.2 → XP_016884696.1 polyglutamine-binding protein 1 isoform X2

UniProtKB/TrEMBL

A0A0S2Z556

Conserved Domains (1) summary

smart00456
Location:47 → 78

WW; Domain with 2 conserved Trp (W) residues
XM_047441754.1 → XP_047297710.1 polyglutamine-binding protein 1 isoform X3
XM_005272571.4 → XP_005272628.1 polyglutamine-binding protein 1 isoform X2

See identical proteins and their annotated locations for XP_005272628.1

UniProtKB/TrEMBL

A0A0S2Z556

Conserved Domains (1) summary

smart00456
Location:47 → 78

WW; Domain with 2 conserved Trp (W) residues
XM_005272572.5 → XP_005272629.1 polyglutamine-binding protein 1 isoform X3

See identical proteins and their annotated locations for XP_005272629.1

UniProtKB/Swiss-Prot

O60828

Related

ENSP00000247140.4, ENST00000247140.8

Conserved Domains (1) summary

smart00456
Location:47 → 78

WW; Domain with 2 conserved Trp (W) residues
XM_047441753.1 → XP_047297709.1 polyglutamine-binding protein 1 isoform X2
XM_011543884.3 → XP_011542186.1 polyglutamine-binding protein 1 isoform X1

See identical proteins and their annotated locations for XP_011542186.1

UniProtKB/Swiss-Prot

C9JQA1, O60828, Q4VY25, Q4VY26, Q4VY27, Q4VY29, Q4VY30, Q4VY34, Q4VY35, Q4VY36, Q4VY37, Q4VY38, Q9GZP2, Q9GZU4, Q9GZZ4

UniProtKB/TrEMBL

A0A0S2Z4V5, A0A0S2Z556

Conserved Domains (1) summary

smart00456
Location:47 → 78

WW; Domain with 2 conserved Trp (W) residues

Reference GRCh38.p14 PATCHES

Genomic

NW_025791820.1 Reference GRCh38.p14 PATCHES

Range

56765..61978

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333395.1 → XP_054189370.1 polyglutamine-binding protein 1 isoform X2
XM_054333397.1 → XP_054189372.1 polyglutamine-binding protein 1 isoform X3
XM_054333394.1 → XP_054189369.1 polyglutamine-binding protein 1 isoform X2
XM_054333398.1 → XP_054189373.1 polyglutamine-binding protein 1 isoform X3
XM_054333396.1 → XP_054189371.1 polyglutamine-binding protein 1 isoform X2
XM_054333393.1 → XP_054189368.1 polyglutamine-binding protein 1 isoform X1

UniProtKB/Swiss-Prot

C9JQA1, O60828, Q4VY25, Q4VY26, Q4VY27, Q4VY29, Q4VY30, Q4VY34, Q4VY35, Q4VY36, Q4VY37, Q4VY38, Q9GZP2, Q9GZU4, Q9GZZ4

UniProtKB/TrEMBL

A0A0S2Z4V5

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

48308411..48313619

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054326332.1 → XP_054182307.1 polyglutamine-binding protein 1 isoform X2
XM_054326334.1 → XP_054182309.1 polyglutamine-binding protein 1 isoform X3
XM_054326331.1 → XP_054182306.1 polyglutamine-binding protein 1 isoform X2
XM_054326335.1 → XP_054182310.1 polyglutamine-binding protein 1 isoform X3
XM_054326333.1 → XP_054182308.1 polyglutamine-binding protein 1 isoform X2
XM_054326330.1 → XP_054182305.1 polyglutamine-binding protein 1 isoform X1

UniProtKB/Swiss-Prot

C9JQA1, O60828, Q4VY25, Q4VY26, Q4VY27, Q4VY29, Q4VY30, Q4VY34, Q4VY35, Q4VY36, Q4VY37, Q4VY38, Q9GZP2, Q9GZU4, Q9GZZ4

UniProtKB/TrEMBL

A0A0S2Z4V5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001032385.1: Suppressed sequence

Description

NM_001032385.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_144494.1: Suppressed sequence

Description

NM_144494.1: This RefSeq was permanently suppressed because it contains intronic sequence and insufficient support exists for the transcript and the protein.