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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 GPCR Pathway and Apoptotic Pathways in Synovial Fibroblasts. 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

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

Genomics for PPP1R9A Gene

Regulatory Elements for PPP1R9A Gene

Enhancers for PPP1R9A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around PPP1R9A on UCSC Golden Path with GeneCards custom track

Promoters for PPP1R9A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for PPP1R9A Gene

Chromosome:
7
Start:
94,907,202 bp from pter
End:
95,296,415 bp from pter
Size:
389,214 bases
Orientation:
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:
    Q9ULJ8-NEB1_HUMAN
    Recommended name:
    Neurabin-1
    Protein Accession:
    Q9ULJ8
    Secondary Accessions:
    • A1L494
    • B2RWQ1
    • E9PCA0
    • E9PCK6
    • E9PDX1
    • F8W7J9
    • O76059
    • Q9NXT2

    Protein attributes for PPP1R9A Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for PPP1R9A Gene

Post-translational modifications for PPP1R9A Gene

  • Ubiquitination at Lys 777
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PPP1R9A Gene

Domains & Families for PPP1R9A Gene

Protein Domains for PPP1R9A Gene

Graphical View of Domain Structure for InterPro Entry

Q9ULJ8

UniProtKB/Swiss-Prot:

NEB1_HUMAN :
  • Interacts with p70-S6K via its PDZ domain.
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.
  • Contains 1 PDZ (DHR) domain.
  • Contains 1 SAM (sterile alpha motif) domain.
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).

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

CRISPR Products

miRNA for PPP1R9A Gene

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for PPP1R9A Gene COMPARTMENTS Subcellular localization image for PPP1R9A gene
Compartment Confidence
cytosol 5
cytoskeleton 4
nucleus 3

Gene Ontology (GO) - Cellular Components for PPP1R9A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol IEA --
GO:0005856 cytoskeleton IEA --
GO:0014069 postsynaptic density IBA --
GO:0015629 actin cytoskeleton IBA --
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 IBA --
GO:0007568 aging IEA --
GO:0010976 positive regulation of neuron projection development IEA --
GO:0019722 calcium-mediated signaling IBA --
GO:0030833 regulation of actin filament polymerization 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:

CRISPR Products

Flow Cytometry 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: -
SP5:

ExUns: 22b
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for PPP1R9A Gene

GeneLoc Exon Structure for
PPP1R9A
ECgene alternative splicing isoforms for
PPP1R9A

Expression for PPP1R9A Gene

mRNA expression in normal human tissues 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:

PPP1R9A

SOURCE GeneReport for Unigene cluster for PPP1R9A Gene:

Hs.21816
genes like me logo Genes that share expression patterns with PPP1R9A: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
dog
(Canis familiaris)
Mammalia PPP1R9A 34
  • 91.45 (n)
  • 91.75 (a)
PPP1R9A 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ppp1r9a 34
  • 86.67 (n)
  • 90.32 (a)
Ppp1r9a 16
Ppp1r9a 35
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PPP1R9A 34
  • 99.66 (n)
  • 99.64 (a)
rat
(Rattus norvegicus)
Mammalia Ppp1r9a 34
  • 86.89 (n)
  • 90.06 (a)
cow
(Bos Taurus)
Mammalia PPP1R9A 35
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PPP1R9A 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPP1R9A 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPP1R9A 34
  • 74.73 (n)
  • 74.75 (a)
PPP1R9A 35
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPP1R9A 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp1r9a 34
  • 69.23 (n)
  • 71.25 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC398380 34
zebrafish
(Danio rerio)
Actinopterygii Dr.27035 34
ppp1r9a 34
  • 67.24 (n)
  • 71.01 (a)
ppp1r9a 35
  • 54 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2598 34
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

ENSEMBL:
Gene Tree for PPP1R9A (if available)
TreeFam:
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:

Pseudogenes.org Pseudogenes for PPP1R9A Gene

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 Sequence Context AA Info Type
rs10230714 - 94,911,104(+) AGGCA(A/G)TGCCA reference, missense
rs2103260 -- 95,236,210(+) TTCCG(C/T)ATTTT intron-variant
rs2106499 -- 95,024,331(+) tcctt(C/G)ttaat intron-variant
rs2141220 -- 94,915,657(-) TGAAC(C/T)TGAAG intron-variant
rs2141221 -- 94,923,187(-) ATGCT(A/C/G)TATAA 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)

Relevant External Links for PPP1R9A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP1R9A

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: GeneCards

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

Relevant External Links for PPP1R9A

Genetic Association Database (GAD)
PPP1R9A
Human Genome Epidemiology (HuGE) Navigator
PPP1R9A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPP1R9A
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 Res. 1999) 2 3 4 65
  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 Res. Ther. 2010) 3 46 65
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 65
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  5. Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues. (PMID: 15286155) Nakabayashi K. … Scherer S.W. (J. Med. Genet. 2004) 3 22 65

Products for PPP1R9A Gene

Sources for PPP1R9A Gene

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