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Aliases for PPP1R9A Gene

Aliases for PPP1R9A Gene

  • Protein Phosphatase 1 Regulatory Subunit 9A 2 3 4 5
  • Protein Phosphatase 1, Regulatory (Inhibitor) Subunit 9A 2 3
  • Neural Tissue-Specific F-Actin-Binding Protein I 3 4
  • Neurabin-I 3 4
  • Protein Phosphatase 1, Regulatory Subunit 9A 2
  • Neurabin-1 3
  • KIAA1222 4
  • NRB1 3
  • NRBI 3

External Ids for PPP1R9A Gene

Previous GeneCards Identifiers for PPP1R9A Gene

  • GC07P093075
  • GC07P094138
  • GC07P094152
  • GC07P094149
  • GC07P094181
  • GC07P094374
  • GC07P094536
  • GC07P089144

Summaries for PPP1R9A Gene

Entrez Gene Summary for PPP1R9A Gene

  • This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

GeneCards Summary for PPP1R9A Gene

PPP1R9A (Protein Phosphatase 1 Regulatory Subunit 9A) is a Protein Coding gene. Diseases associated with PPP1R9A include Hepatosplenic T-Cell Lymphoma. Among its related pathways are Beta-Adrenergic Signaling and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include actin binding and actin filament binding. An important paralog of this gene is PPP1R9B.

UniProtKB/Swiss-Prot for PPP1R9A Gene

  • Binds to actin filaments (F-actin) and shows cross-linking activity. Binds along the sides of the F-actin. May be involved in neurite formation. Inhibits protein phosphatase 1-alpha activity (By similarity).

Gene Wiki entry for PPP1R9A Gene

Additional gene information for PPP1R9A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPP1R9A Gene

Genomics for PPP1R9A Gene

GeneHancer (GH) Regulatory Elements for PPP1R9A Gene

Promoters and enhancers for PPP1R9A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I094906 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 557.3 +0.9 924 4.2 ARID4B SIN3A FEZF1 DMAP1 GLI4 ZNF2 ZNF48 ZNF121 GLIS2 ZNF143 PPP1R9A PIR34756
GH07I094969 Enhancer 0.9 Ensembl ENCODE 17 +62.6 62553 0.5 SOX13 KLF1 FOXA2 SAP130 DMAP1 ZIC2 ZNF644 KMT2B RARA ZFHX2 PPP1R9A GC07M095019 PIR34756
GH07I094970 Enhancer 0.8 ENCODE 17 +66.3 66275 5.4 FOXA2 ARID4B SIN3A RARA ATF7 ZNF362 ELF1 MIER2 REST PPARG PPP1R9A GC07M095019 PIR34756
GH07I094942 Enhancer 0.8 ENCODE 9.9 +35.3 35325 0.6 FOXA2 ZNF529 ZFP64 ZBTB40 ZNF213 ZNF302 ZNF354C ZNF138 ZNF202 ZNF680 RPS3AP25 CASD1 SGCE LOC105375403 BET1 COL1A2 DYNC1I1 PPP1R9A PIR34756 GC07M095019
GH07I094971 Enhancer 0.7 ENCODE 11.3 +63.0 63007 0.4 SOX13 GATAD2A KLF1 FOXA2 SAP130 SP5 FOXA3 DMAP1 ZNF644 KMT2B PPP1R9A GC07M095019 PIR34756
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PPP1R9A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PPP1R9A gene promoter:

Genomic Locations for PPP1R9A Gene

Genomic Locations for PPP1R9A Gene
389,214 bases
Plus strand

Genomic View for PPP1R9A Gene

Genes around PPP1R9A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP1R9A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP1R9A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP1R9A Gene

Proteins for PPP1R9A Gene

  • Protein details for PPP1R9A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A1L494
    • B2RWQ1
    • E9PCA0
    • E9PCK6
    • E9PDX1
    • F8W7J9
    • O76059
    • Q9NXT2

    Protein attributes for PPP1R9A Gene

    1098 amino acids
    Molecular mass:
    123342 Da
    Quaternary structure:
    • Possibly exists as a homodimer, homotrimer or a homotetramer. Interacts with F-actin, protein phosphatase 1 (PP1), neurabin-2 and p70-S6K (By similarity).

    Three dimensional structures from OCA and Proteopedia for PPP1R9A Gene

    Alternative splice isoforms for PPP1R9A Gene


neXtProt entry for PPP1R9A Gene

Post-translational modifications for PPP1R9A Gene

  • Ubiquitination at Lys777
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PPP1R9A Gene

Domains & Families for PPP1R9A Gene

Graphical View of Domain Structure for InterPro Entry



  • Interacts with p70-S6K via its PDZ domain.
  • Interacts with p70-S6K via its PDZ domain.
  • The PP1 binding region is natively unstructured, upon PP1 binding, it acquires structure, blocks a substrate-binding site, and restricts PP1 phosphatase specificity to a subset of substrates.
genes like me logo Genes that share domains with PPP1R9A: view

Function for PPP1R9A Gene

Molecular function for PPP1R9A Gene

UniProtKB/Swiss-Prot Function:
Binds to actin filaments (F-actin) and shows cross-linking activity. Binds along the sides of the F-actin. May be involved in neurite formation. Inhibits protein phosphatase 1-alpha activity (By similarity).

Phenotypes From GWAS Catalog for PPP1R9A Gene

Gene Ontology (GO) - Molecular Function for PPP1R9A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17464283
GO:0008022 protein C-terminus binding IEA --
GO:0008157 protein phosphatase 1 binding IEA --
GO:0019901 protein kinase binding IEA --
GO:0019904 protein domain specific binding IEA --
genes like me logo Genes that share ontologies with PPP1R9A: view
genes like me logo Genes that share phenotypes with PPP1R9A: view

Animal Models for PPP1R9A Gene

MGI Knock Outs for PPP1R9A:

Animal Model Products

  • Taconic Biosciences Mouse Models for PPP1R9A

miRNA for PPP1R9A Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPP1R9A Gene

Localization for PPP1R9A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP1R9A Gene

Cytoplasm, cytoskeleton. Cell junction, synapse, synaptosome.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPP1R9A gene
Compartment Confidence
cytosol 5
cytoskeleton 3
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PPP1R9A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0005856 cytoskeleton IEA --
GO:0014069 postsynaptic density IEA --
GO:0015629 actin cytoskeleton IEA --
genes like me logo Genes that share ontologies with PPP1R9A: view

Pathways & Interactions for PPP1R9A Gene

genes like me logo Genes that share pathways with PPP1R9A: view

Pathways by source for PPP1R9A Gene

Gene Ontology (GO) - Biological Process for PPP1R9A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007015 actin filament organization IEA --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0007568 aging IEA --
GO:0010976 positive regulation of neuron projection development IEA --
genes like me logo Genes that share ontologies with PPP1R9A: view

No data available for SIGNOR curated interactions for PPP1R9A Gene

Drugs & Compounds for PPP1R9A Gene

No Compound Related Data Available

Transcripts for PPP1R9A Gene

Unigene Clusters for PPP1R9A Gene

Protein phosphatase 1, regulatory subunit 9A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPP1R9A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b ^ 22a ·
SP1: - - - - - -
SP2: - -
SP3: -
SP4: -

ExUns: 22b

Relevant External Links for PPP1R9A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PPP1R9A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPP1R9A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PPP1R9A Gene

This gene is overexpressed in Fetal Brain (16.2), Adrenal (14.8), Brain (10.6), Frontal cortex (8.3), and Plasma (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PPP1R9A Gene

Protein tissue co-expression partners for PPP1R9A Gene

NURSA nuclear receptor signaling pathways regulating expression of PPP1R9A Gene:


SOURCE GeneReport for Unigene cluster for PPP1R9A Gene:


Evidence on tissue expression from TISSUES for PPP1R9A Gene

  • Nervous system(4.7)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with PPP1R9A: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP1R9A Gene

Orthologs for PPP1R9A Gene

This gene was present in the common ancestor of chordates.

Orthologs for PPP1R9A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PPP1R9A 33
  • 99.66 (n)
(Canis familiaris)
Mammalia PPP1R9A 33 34
  • 91.45 (n)
(Bos Taurus)
Mammalia PPP1R9A 34
  • 88 (a)
(Rattus norvegicus)
Mammalia Ppp1r9a 33
  • 86.89 (n)
(Mus musculus)
Mammalia Ppp1r9a 33 16 34
  • 86.67 (n)
(Ornithorhynchus anatinus)
Mammalia PPP1R9A 34
  • 77 (a)
(Monodelphis domestica)
Mammalia PPP1R9A 34
  • 71 (a)
(Gallus gallus)
Aves PPP1R9A 33 34
  • 74.73 (n)
(Anolis carolinensis)
Reptilia PPP1R9A 34
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp1r9a 33
  • 69.23 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398380 33
(Danio rerio)
Actinopterygii ppp1r9a 33 34
  • 67.24 (n)
Dr.27035 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2598 33
Species where no ortholog for PPP1R9A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PPP1R9A Gene

Gene Tree for PPP1R9A (if available)
Gene Tree for PPP1R9A (if available)

Paralogs for PPP1R9A Gene

Paralogs for PPP1R9A Gene

(3) SIMAP similar genes for PPP1R9A Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PPP1R9A: view

Variants for PPP1R9A Gene

Sequence variations from dbSNP and Humsavar for PPP1R9A Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000002604 -- 95,115,134(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000018622 -- 95,078,792(+) C/G genic_upstream_transcript_variant, intron_variant
rs1000018837 -- 95,208,800(+) TT/T genic_upstream_transcript_variant, intron_variant
rs1000019193 -- 95,148,801(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000020099 -- 95,028,709(+) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PPP1R9A Gene

Variant ID Type Subtype PubMed ID
dgv11513n54 CNV gain 21841781
dgv1936e212 CNV loss 25503493
esv1256443 CNV insertion 17803354
esv2422248 CNV duplication 17116639
esv2518650 CNV deletion 19546169
esv2520191 CNV insertion 19546169
esv2667060 CNV deletion 23128226
esv2669180 CNV deletion 23128226
esv3304084 CNV mobile element insertion 20981092
esv3309812 CNV mobile element insertion 20981092
esv3309972 CNV mobile element insertion 20981092
esv3341423 CNV insertion 20981092
esv3361442 CNV insertion 20981092
esv3571995 CNV loss 25503493
esv3571996 CNV loss 25503493
esv3571998 CNV loss 25503493
esv3614186 CNV loss 21293372
esv3614187 CNV loss 21293372
esv3614188 CNV loss 21293372
nsv1023193 CNV gain 25217958
nsv1117740 CNV deletion 24896259
nsv464643 CNV gain 19166990
nsv477299 CNV novel sequence insertion 20440878
nsv518209 CNV loss 19592680
nsv524733 CNV loss 19592680
nsv528449 CNV loss 19592680
nsv831063 CNV gain 17160897

Variation tolerance for PPP1R9A Gene

Residual Variation Intolerance Score: 46.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.19; 84.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP1R9A Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP1R9A Gene

Disorders for PPP1R9A Gene

MalaCards: The human disease database

(1) MalaCards diseases for PPP1R9A Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
hepatosplenic t-cell lymphoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPP1R9A

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PPP1R9A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPP1R9A Gene

Publications for PPP1R9A Gene

  1. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
  2. Lack of replication of genetic predictors for the rheumatoid arthritis response to anti-TNF treatments: a prospective case-only study. (PMID: 20423481) Suarez-Gestal M … Gonzalez A (Arthritis research & therapy 2010) 3 44 58
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues. (PMID: 15286155) Nakabayashi K … Scherer SW (Journal of medical genetics 2004) 3 22 58

Products for PPP1R9A Gene

Sources for PPP1R9A Gene

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