Free for academic non-profit institutions. Other users need a Commercial license

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
  • Protein Phosphatase 1, Regulatory Subunit 9A 2 3
  • Neurabin-I 3 4
  • 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 ERK Signaling. GO annotations related to this gene include actin binding and actin filament binding. An important paralog of this gene is MLLT4.

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

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

ENSRs around PPP1R9A on UCSC Golden Path with GeneCards custom track

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

Proteomics data for PPP1R9A Gene at MOPED

Post-translational modifications for PPP1R9A Gene

  • Ubiquitination at Lys 777
  • Modification sites at PhosphoSitePlus

Antibody Products

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:0044325 ion channel binding IEA --
GO:0051015 actin filament binding IBA --
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

Inhibitory RNA Products

In Situ Assay Products

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:0030027 lamellipodium 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:0007568 aging IEA --
GO:0030833 regulation of actin filament polymerization IEA --
GO:0045860 positive regulation of protein kinase activity IEA --
GO:0051497 negative regulation of stress fiber assembly IEA --
GO:0051823 regulation of synapse structural plasticity 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

(1) Drugs for PPP1R9A Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tumor necrosis factor alpha (TNF-alpha) inhibitors Pharma 0
genes like me logo Genes that share compounds with PPP1R9A: view

Transcripts for PPP1R9A Gene

Unigene Clusters for PPP1R9A Gene

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

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, MOPED, and MaxQB for PPP1R9A Gene



SOURCE GeneReport for Unigene cluster for PPP1R9A Gene Hs.21816

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

Protein tissue co-expression partners for PPP1R9A Gene

Primer Products

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia PPP1R9A 35
  • 99.66 (n)
  • 99.64 (a)
cow
(Bos Taurus)
Mammalia PPP1R9A 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPP1R9A 36
  • 91 (a)
OneToOne
PPP1R9A 35
  • 91.45 (n)
  • 91.75 (a)
mouse
(Mus musculus)
Mammalia Ppp1r9a 35
  • 86.67 (n)
  • 90.32 (a)
Ppp1r9a 16
Ppp1r9a 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PPP1R9A 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPP1R9A 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppp1r9a 35
  • 86.89 (n)
  • 90.06 (a)
chicken
(Gallus gallus)
Aves PPP1R9A 36
  • 71 (a)
OneToOne
PPP1R9A 35
  • 74.73 (n)
  • 74.75 (a)
lizard
(Anolis carolinensis)
Reptilia PPP1R9A 36
  • 70 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398380 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp1r9a 35
  • 69.23 (n)
  • 71.25 (a)
zebrafish
(Danio rerio)
Actinopterygii ppp1r9a 36
  • 54 (a)
OneToOne
Dr.27035 35
ppp1r9a 35
  • 67.24 (n)
  • 71.01 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2598 35
Species with no ortholog for PPP1R9A:
  • 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
rs8491 -- 95,296,302(+) TCTAA(A/C)AATAC utr-variant-3-prime
rs854516 -- 95,259,279(+) GGTAC(A/G)TGGTT intron-variant
rs854519 -- 95,265,353(+) GTGGT(A/G)CAAGT intron-variant
rs854520 -- 95,266,644(+) TGGTA(C/T)CTCAT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2422248 CNV Duplication 17116639
nsv464643 CNV Gain 19166990
nsv831063 CNV Gain 17160897
nsv528449 CNV Loss 19592680
esv2669180 CNV Deletion 23128226
esv2667060 CNV Deletion 23128226
esv268608 CNV Insertion 20981092
esv274084 CNV Insertion 20981092
nsv524733 CNV Loss 19592680
nsv518209 CNV Loss 19592680
esv2520191 CNV Insertion 19546169
esv268363 CNV Insertion 20981092
esv274244 CNV Insertion 20981092
esv1256443 CNV Insertion 17803354
nsv888740 CNV Gain 21882294
esv2518650 CNV Deletion 19546169

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

HapMap Linkage Disequilibrium report
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 67
  2. 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 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Identifying biological pathways that underlie primordial short stature using network analysis. (PMID: 24711643) Hanson D. … Clayton P.E. (J. Mol. Endocrinol. 2014) 3
  5. Integrative genomic and transcriptomic analysis identified candidate genes implicated in the pathogenesis of hepatosplenic T-cell lymphoma. (PMID: 25057852) Finalet Ferreiro J. … Wlodarska I. (PLoS ONE 2014) 3

Products for PPP1R9A Gene

Sources for PPP1R9A Gene

Back to Top

Content