PPP1R9B protein phosphatase 1 regulatory subunit 9B [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPP1R9Bprovided by HGNC
Official Full Name: protein phosphatase 1 regulatory subunit 9Bprovided by HGNC
Primary source: HGNC:HGNC:9298
See related: Ensembl:ENSG00000108819 MIM:603325; AllianceGenome:HGNC:9298
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: Spn; SPINO; PPP1R6; PPP1R9
Summary: This gene encodes a scaffold protein that functions as a regulatory subunit of protein phosphatase 1a. Expression of this gene is particularly high in dendritic spines, suggesting that the encoded protein may play a role in receiving signals from the central nervous system. The encoded protein has putative tumor suppressor function and decreased expression has been observed in tumors. [provided by RefSeq, Feb 2014]
Expression: Ubiquitous expression in brain (RPKM 26.2), spleen (RPKM 25.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.33

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (50133737..50150677, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (51000814..51017737, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (48211101..48228038, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutation of SPINOPHILIN (PPP1R9B) found in human tumors promotes the tumorigenic and stemness properties of cells.
Title: Mutation of SPINOPHILIN (PPP1R9B) found in human tumors promotes the tumorigenic and stemness properties of cells.
Study determined that spinophilin binding to neurofilament medium required overexpression of the catalytic subunit of protein kinase A and was decreased by cyclin-dependent protein kinase 5.
Title: Mechanisms and Consequences of Dopamine Depletion-Induced Attenuation of the Spinophilin/Neurofilament Medium Interaction.
Clinical onset of AD is marked by the loss of PreC spinophilin-ir dendritic spines that is related to Abeta pathology and may contribute to cognitive symptoms early in the disease.
Title: Loss of precuneus dendritic spines immunopositive for spinophilin is related to cognitive impairment in early Alzheimer's disease.
The increased cancer stem cells-like properties induced by the downregulation of Spn might account for the increased malignant phenotype observed in Spn-null breast tumors.
Title: Loss of the tumor suppressor spinophilin (PPP1R9B) increases the cancer stem cell population in breast tumors.
homo-oligomerization of neurabin is required for stabilizing RGS4 on the plasma membrane to attenuate A1R signaling
Title: Effective Attenuation of Adenosine A1R Signaling by Neurabin Requires Oligomerization of Neurabin.
Data identify Spn as a critical adhesion and signaling protein that is essential for modulating glioblastoma cell invasion in the brain microenvironment. Spn suppresses brain tumor cell invasion, in part, via control of Rac1 GTPase activities and invadopodia disassembly. Its C-terminus binds directly to the beta 8 integrin cytoplasmic tail.
Title: The Cytoskeletal Adapter Protein Spinophilin Regulates Invadopodia Dynamics and Tumor Cell Invasion in Glioblastoma.
results indicate that spinophilin plays an important role in regulating the activity of Group I mGluRs as well as their influence on synaptic activity.
Title: Role of Spinophilin in Group I Metabotropic Glutamate Receptor Endocytosis, Signaling, and Synaptic Plasticity.
Low spinophilin expression enhances aggressive biological behavior of breast cancer.
Title: Low spinophilin expression enhances aggressive biological behavior of breast cancer.
Colorectal carcinoma expression of spinophilin expression determines cellular growth, cancer stemness and 5-flourouracil resistance.
Title: Spinophilin expression determines cellular growth, cancer stemness and 5-flourouracil resistance in colorectal cancer.
spinophilin might play a previously unrecognized role in the pathogenesis of head and neck squamous cell carcinoma
Title: Loss of the putative tumor suppressor protein spinophilin is associated with poor prognosis in head and neck cancer.

Submit: New GeneRIF Correction See all GeneRIFs (24)

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D2 dopamine receptor binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables kinase binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IEA Inferred from Electronic Annotation more info
enables protein phosphatase 1 binding	NAS Non-traceable Author Statement more info	PubMed
enables protein phosphatase inhibitor activity	NAS Non-traceable Author Statement more info	PubMed
enables transmembrane transporter binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in RNA splicing	NAS Non-traceable Author Statement more info	PubMed
involved_in actin filament depolymerization	IEA Inferred from Electronic Annotation more info
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium-mediated signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to epidermal growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to estradiol stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to morphine	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to peptide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex development	IEA Inferred from Electronic Annotation more info
involved_in dendrite development	IEA Inferred from Electronic Annotation more info
involved_in developmental process involved in reproduction	IEA Inferred from Electronic Annotation more info
involved_in filopodium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hippocampus development	IEA Inferred from Electronic Annotation more info
involved_in learning	IEA Inferred from Electronic Annotation more info
involved_in male mating behavior	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron projection development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein localization to actin cortical patch	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein localization to plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in protein localization to actin cytoskeleton	IEA Inferred from Electronic Annotation more info
involved_in protein localization to cell periphery	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell cycle	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cell growth by extracellular stimulus	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cell population proliferation	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of exit from mitosis	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of opioid receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of postsynapse assembly	IEA Inferred from Electronic Annotation more info
involved_in reproductive system development	IEA Inferred from Electronic Annotation more info
involved_in response to L-phenylalanine derivative	IEA Inferred from Electronic Annotation more info
involved_in response to amphetamine	IEA Inferred from Electronic Annotation more info
involved_in response to immobilization stress	IEA Inferred from Electronic Annotation more info
involved_in response to kainic acid	IEA Inferred from Electronic Annotation more info
involved_in response to nicotine	IEA Inferred from Electronic Annotation more info
involved_in response to prostaglandin E	IEA Inferred from Electronic Annotation more info
involved_in response to steroid hormone	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in adherens junction	IEA Inferred from Electronic Annotation more info
located_in cortical actin cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic side of dendritic spine plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in dendritic spine head	IEA Inferred from Electronic Annotation more info
located_in dendritic spine neck	IEA Inferred from Electronic Annotation more info
located_in extrinsic component of postsynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in filopodium	IDA Inferred from Direct Assay more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in growth cone	IEA Inferred from Electronic Annotation more info
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic density	IBA Inferred from Biological aspect of Ancestor more info
part_of protein phosphatase type 1 complex	TAS Traceable Author Statement more info	PubMed
located_in ruffle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in spine apparatus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: neurabin-2

Names: neurabin-II; protein phosphatase 1, regulatory (inhibitor) subunit 9B; protein phosphatase 1, regulatory subunit 9B, spinophilin

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.