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    PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B [ Homo sapiens (human) ]

    Gene ID: 84152, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PPP1R1Bprovided by HGNC
    Official Full Name
    protein phosphatase 1 regulatory inhibitor subunit 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:9287
    See related
    Ensembl:ENSG00000131771 MIM:604399; AllianceGenome:HGNC:9287
    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
    DARPP32; DARPP-32
    Summary
    This gene encodes a bifunctional signal transduction molecule. Dopaminergic and glutamatergic receptor stimulation regulates its phosphorylation and function as a kinase or phosphatase inhibitor. As a target for dopamine, this gene may serve as a therapeutic target for neurologic and psychiatric disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
    Expression
    Biased expression in colon (RPKM 51.4), salivary gland (RPKM 45.0) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PPP1R1B in Genome Data Viewer
    Location:
    17q12
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (39626707..39636624)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40489777..40500194)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37783205..37792877)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene neuronal differentiation 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12098 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8458 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8459 Neighboring gene VISTA enhancer hs627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37775157-37775657 Neighboring gene uncharacterized LOC124903997 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12099 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37787615-37788534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37788535-37789454 Neighboring gene uncharacterized LOC124903998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37791542-37792165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12100 Neighboring gene StAR related lipid transfer domain containing 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37810255-37810816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37814469-37815344 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37822021-37822758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37822759-37823496 Neighboring gene titin-cap

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: 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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    Related articles in PubMed

    1. Mutation analysis of DARPP-32 as a candidate gene for schizophrenia. Li CH, et al. Schizophr Res, 2006 Oct. PMID 16750903
    2. Dopamine modulates attentional control of auditory perception: DARPP-32 (PPP1R1B) genotype effects on behavior and cortical evoked potentials. Li SC, et al. Neuropsychologia, 2013 Jul. PMID 23639477
    3. Association between PPP1R1B polymorphisms and defense mechanisms in healthy Chinese-Han subjects. Huang Y, et al. J Mol Neurosci, 2013 Mar. PMID 23080070
    4. Resistance to TRAIL is mediated by DARPP-32 in gastric cancer. Belkhiri A, et al. Clin Cancer Res, 2012 Jul 15. PMID 22589394, Free PMC Article
    5. Detailed DARPP-32 expression profiles in postmortem brains from patients with schizophrenia: an immunohistochemical study. Kunii Y, et al. Med Mol Morphol, 2011 Dec. PMID 22179181

    See all (116) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Unravelling transcriptomic complexity in breast cancer through modulation of DARPP-32 expression and signalling pathways.
      Title: Unravelling transcriptomic complexity in breast cancer through modulation of DARPP-32 expression and signalling pathways.
    2. DARPP32, a target of hyperactive mTORC1 in the retinal pigment epithelium.
      Title: DARPP32, a target of hyperactive mTORC1 in the retinal pigment epithelium.
    3. A Homozygous Missense Variant in PPP1R1B/DARPP-32 Is Associated With Generalized Complex Dystonia.
      Title: A Homozygous Missense Variant in PPP1R1B/DARPP-32 Is Associated With Generalized Complex Dystonia.
    4. PP1, PKA and DARPP-32 in breast cancer: A retrospective assessment of protein and mRNA expression.
      Title: PP1, PKA and DARPP-32 in breast cancer: A retrospective assessment of protein and mRNA expression.
    5. Dopamine and cAMP-regulated phosphoprotein 32kDa (DARPP-32), protein phosphatase-1 and cyclin-dependent kinase 5 expression in ovarian cancer.
      Title: Dopamine and cAMP-regulated phosphoprotein 32kDa (DARPP-32), protein phosphatase-1 and cyclin-dependent kinase 5 expression in ovarian cancer.
    6. ASCL1-regulated DARPP-32 and t-DARPP stimulate small cell lung cancer growth and neuroendocrine tumour cell proliferation.
      Title: ASCL1-regulated DARPP-32 and t-DARPP stimulate small cell lung cancer growth and neuroendocrine tumour cell proliferation.
    7. Silencing of miR490-3p by H. pylori activates DARPP-32 and induces resistance to gefitinib.
      Title: Silencing of miR490-3p by H. pylori activates DARPP-32 and induces resistance to gefitinib.
    8. Dopamine and cAMP-regulated phosphoprotein 32 kDa (DARPP-32) and survival in breast cancer: a retrospective analysis of protein and mRNA expression.
      Title: Dopamine and cAMP-regulated phosphoprotein 32 kDa (DARPP-32) and survival in breast cancer: a retrospective analysis of protein and mRNA expression.
    9. Differential protein expression of DARPP-32 versus Calcineurin in the prefrontal cortex and nucleus accumbens in schizophrenia and bipolar disorder.
      Title: Differential protein expression of DARPP-32 versus Calcineurin in the prefrontal cortex and nucleus accumbens in schizophrenia and bipolar disorder.
    10. the DARPP-32-IGF1R signaling axis plays a key role in regulating the STAT3 signaling, a critical step in gastric tumorigenesis
      Title: Activation of IGF1R by DARPP-32 promotes STAT3 signaling in gastric cancer cells.
    Submit: New GeneRIF Correction See all GeneRIFs (82)

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20940

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cAMP-dependent protein kinase inhibitor activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase inhibitor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein phosphatase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein phosphatase inhibitor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein phosphatase regulator activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in behavioral response to cocaine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to cocaine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of female receptivity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to amphetamine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to morphine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in visual learning 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 cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein phosphatase 1 regulatory subunit 1B
    Names
    dopamine and cAMP-regulated neuronal phosphoprotein 32
    NP_001229393.1
    NP_115568.2
    NP_852606.1
    XP_016880705.1
    XP_016880706.1
    XP_054173515.1
    XP_054173516.1

    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

    1. NG_030330.1 RefSeqGene

      Range
      5029..14701
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001242464.2 → NP_001229393.1  protein phosphatase 1 regulatory subunit 1B isoform 2

      See identical proteins and their annotated locations for NP_001229393.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1. Variants 2 and 3 encode isoform 2
      Source sequence(s)
      AF435973, AY070271
      Consensus CDS
      CCDS11340.1
      Related
      ENSP00000377808.1, ENST00000394265.5
      Conserved Domains (1) summary
      pfam05395
      Location:1 → 76
      DARPP-32; Protein phosphatase inhibitor 1/DARPP-32

    2. NM_032192.4 → NP_115568.2  protein phosphatase 1 regulatory subunit 1B isoform 1

      See identical proteins and their annotated locations for NP_115568.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF464196
      Consensus CDS
      CCDS11339.1
      UniProtKB/Swiss-Prot
      Q547V9, Q547W0, Q9H7G1, Q9UD71
      UniProtKB/TrEMBL
      B3KVQ9, J3KT77
      Related
      ENSP00000254079.4, ENST00000254079.9
      Conserved Domains (1) summary
      pfam05395
      Location:2 → 112
      DARPP-32; Protein phosphatase inhibitor 1/DARPP-32

    3. NM_181505.4 → NP_852606.1  protein phosphatase 1 regulatory subunit 1B isoform 2

      See identical proteins and their annotated locations for NP_852606.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1. Variants 2 and 3 encode isoform 2.
      Source sequence(s)
      AY070271
      Consensus CDS
      CCDS11340.1
      Related
      ENSP00000377810.2, ENST00000394267.2
      Conserved Domains (1) summary
      pfam05395
      Location:1 → 76
      DARPP-32; Protein phosphatase inhibitor 1/DARPP-32

    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

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      39626707..39636624
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025216.3 → XP_016880705.1  protein phosphatase 1 regulatory subunit 1B isoform X1

      UniProtKB/Swiss-Prot
      Q547V9, Q547W0, Q9H7G1, Q9UD71
      UniProtKB/TrEMBL
      B3KVQ9, J3KT77
      Related
      ENSP00000462137.1, ENST00000580825.5
      Conserved Domains (1) summary
      pfam05395
      Location:2 → 112
      DARPP-32; Protein phosphatase inhibitor 1/DARPP-32

    2. XM_017025217.3 → XP_016880706.1  protein phosphatase 1 regulatory subunit 1B isoform X2

      Conserved Domains (1) summary
      pfam05395
      Location:1 → 76
      DARPP-32; Protein phosphatase inhibitor 1/DARPP-32

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      40489777..40500194
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317540.1 → XP_054173515.1  protein phosphatase 1 regulatory subunit 1B isoform X1

      UniProtKB/Swiss-Prot
      Q547V9, Q547W0, Q9H7G1, Q9UD71
      UniProtKB/TrEMBL
      B3KVQ9

    2. XM_054317541.1 → XP_054173516.1  protein phosphatase 1 regulatory subunit 1B isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UD71.2 GenPept UniProtKB/Swiss-Prot:Q9UD71

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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