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

Summary

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

Location:: 17q12

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (39626707..39636624)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (40489777..40500194)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (37783205..37792877)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
DARPP32, a target of hyperactive mTORC1 in the retinal pigment epithelium.
Title: DARPP32, a target of hyperactive mTORC1 in the retinal pigment epithelium.
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.
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.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66410 (e-PCR)
- UniSTS:83733

WI-19537 (e-PCR)
- UniSTS:81402

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 negative regulation of phosphoprotein phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
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

EC 3.1.3.16

NP_115568.2

EC 3.1.3.16

NP_852606.1

EC 3.1.3.16

XP_016880705.1

EC 3.1.3.16

XP_016880706.1

EC 3.1.3.16

XP_054173515.1

EC 3.1.3.16

XP_054173516.1

EC 3.1.3.16

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_030330.1 RefSeqGene

Range

5029..14701

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

39626707..39636624

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_060941.1 Alternate T2T-CHM13v2.0

Range

40489777..40500194

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q547V9, Q547W0, Q9H7G1, Q9UD71

UniProtKB/TrEMBL

B3KVQ9
XM_054317541.1 → XP_054173516.1 protein phosphatase 1 regulatory subunit 1B isoform X2