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

Gene ID: 10084, updated on 18-Oct-2014
Official Symbol
PQBP1provided by HGNC
Official Full Name
polyglutamine binding protein 1provided by HGNC
Primary source
HGNC:HGNC:9330
Locus tag
JM26
See related
Ensembl:ENSG00000102103; HPRD:02354; MIM:300463; Vega:OTTHUMG00000024128
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 mental retardation. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]
See PQBP1 in Epigenomics, MapViewer
Location:
Xp11.23
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (48897908..48903145)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48755160..48760422)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ES cell expressed Ras Neighboring gene proprotein convertase subtilisin/kexin type 1 inhibitor Neighboring gene translocase of inner mitochondrial membrane 17 homolog B (yeast) Neighboring gene solute carrier family 35 (UDP-galactose transporter), member A2 Neighboring gene Pim-2 proto-oncogene, serine/threonine kinase

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Renpenning syndrome 1
MedGen: C0796135 OMIM: 309500 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-09-06)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-09-06)

ClinGen Genome Curation PagePubMed
  • Spliceosome, organism-specific biosystem (from KEGG)
    Spliceosome, organism-specific biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...
  • Spliceosome, conserved biosystem (from KEGG)
    Spliceosome, conserved biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...
  • Spliceosome, Prp19/CDC5L complex, organism-specific biosystem (from KEGG)
    Spliceosome, Prp19/CDC5L complex, organism-specific biosystemStructural complex; Genetic information processing; Spliceosome
  • Spliceosome, Prp19/CDC5L complex, conserved biosystem (from KEGG)
    Spliceosome, Prp19/CDC5L complex, conserved biosystemStructural complex; Genetic information processing; Spliceosome
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
ribonucleoprotein complex binding IDA
Inferred from Direct Assay
more info
 
transcription coactivator activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
alternative mRNA splicing, via spliceosome IMP
Inferred from Mutant Phenotype
more info
 
neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of RNA splicing IMP
Inferred from Mutant Phenotype
more info
 
regulation of dendrite morphogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytoplasmic stress granule IEA
Inferred from Electronic Annotation
more info
 
neuronal ribonucleoprotein granule IEA
Inferred from Electronic Annotation
more info
 
nuclear speck ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
polyglutamine-binding protein 1
Names
polyglutamine-binding protein 1
polyglutamine tract-binding protein 1
nuclear protein containing WW domain 38 kD
38 kDa nuclear protein containing a WW domain
mental retardation, X-linked 2 (non-dysmorphic)

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

  1. NG_015967.1 

    Range
    5001..10228
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to 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
    O60828
    Conserved Domains (1) summary
    smart00456
    Location:4778
    WW; Domain with 2 conserved Trp (W) residues
  2. NM_001032382.1NP_001027554.1  polyglutamine-binding protein 1 isoform 1

    See proteins identical to 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
    O60828
    Related
    ENSP00000391759, OTTHUMP00000025808, ENST00000447146, OTTHUMT00000060777
    Conserved Domains (1) summary
    smart00456
    Location:4778
    WW; Domain with 2 conserved Trp (W) residues
  3. NM_001032383.1NP_001027555.1  polyglutamine-binding protein 1 isoform 1

    See proteins identical to 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
    O60828
    Related
    ENSP00000365747, ENST00000376563
    Conserved Domains (1) summary
    smart00456
    Location:4778
    WW; Domain with 2 conserved Trp (W) residues
  4. NM_001032384.1NP_001027556.1  polyglutamine-binding protein 1 isoform 1

    See proteins identical to 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
    O60828
    Related
    ENSP00000379985, ENST00000396763
    Conserved Domains (1) summary
    smart00456
    Location:4778
    WW; Domain with 2 conserved Trp (W) residues
  5. NM_001167989.1NP_001161461.1  polyglutamine-binding protein 1 isoform 4

    See proteins identical to 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/Swiss-Prot
    O60828
    Conserved Domains (1) summary
    smart00456
    Location:4778
    WW; Domain with 2 conserved Trp (W) residues
  6. NM_001167990.1NP_001161462.1  polyglutamine-binding protein 1 isoform 5

    See proteins identical to 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/Swiss-Prot
    O60828
    Conserved Domains (1) summary
    TIGR01622
    Location:104195
    SF-CC1; splicing factor, CC1-like family
  7. NM_001167992.1NP_001161464.1  polyglutamine-binding protein 1 isoform 6

    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
  8. NM_005710.2NP_005701.1  polyglutamine-binding protein 1 isoform 1

    See proteins identical to 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
    O60828
    Related
    ENSP00000218224, ENST00000218224
    Conserved Domains (1) summary
    smart00456
    Location:4778
    WW; Domain with 2 conserved Trp (W) residues
  9. NM_144495.2NP_652766.1  polyglutamine-binding protein 1 isoform 3

    See proteins identical to 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, ENST00000376566
    Conserved Domains (1) summary
    cd00201
    Location:4980
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    48897908..48903145
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005272571.2XP_005272628.1  

    See proteins identical to XP_005272628.1

    UniProtKB/Swiss-Prot
    O60828
    Conserved Domains (1) summary
    smart00456
    Location:4778
    WW; Domain with 2 conserved Trp (W) residues
  2. XM_005272572.2XP_005272629.1  

    See proteins identical to XP_005272629.1

    UniProtKB/Swiss-Prot
    O60828
    Related
    ENSP00000247140, OTTHUMP00000025809, ENST00000247140, OTTHUMT00000060778
    Conserved Domains (1) summary
    cd00201
    Location:4980
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    46411224..46416455
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    48786337..48791564
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001032385.1: Suppressed sequence

    Description
    NM_001032385.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. 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.