Aliases for PPP1R9A Gene
Aliases for PPP1R9A Gene
External Ids for PPP1R9A Gene
- HGNC: 14946
- Entrez Gene: 55607
- Ensembl: ENSG00000158528
- OMIM: 602468
- UniProtKB: Q9ULJ8
Previous GeneCards Identifiers for PPP1R9A Gene
- GC07P093075
- GC07P094138
- GC07P094152
- GC07P094149
- GC07P094181
- GC07P094374
- GC07P094536
- GC07P089144
Summaries 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).
Additional gene information for PPP1R9A Gene
- Monarch Initiative
- Search for PPP1R9A at DataMed
- Search for PPP1R9A at HumanCyc
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 Score |
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:
Regulatory Element Products
Genomic Locations for PPP1R9A Gene
Genomic Locations for PPP1R9A Gene
- chr7:94,907,202-95,296,415
- (GRCh38/hg38)
- Size:
- 389,214 bases
- Orientation:
- Plus strand
- chr7:94,536,514-94,925,727
- (GRCh37/hg19)
Genomic View for PPP1R9A Gene
Genes around PPP1R9A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q21.3 by Ensembl
- 7q21.3 by Entrez Gene
- 7q21.3 by HGNC
PPP1R9A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for PPP1R9A Gene
Post-translational modifications for PPP1R9A Gene
- Ubiquitination at Lys777
Other Protein References for PPP1R9A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- NP_001159632.1
- NP_001159633.1
- NP_001159634.1
- NP_001159635.1
- NP_060120.2
- XP_011514682.1
- XP_011514683.1
- XP_011514684.1
- XP_011514685.1
- XP_011514691.1
- XP_016867883.1
- XP_016867884.1
- XP_016867885.1
- XP_016867886.1
- XP_016867887.1
- XP_016867888.1
- XP_016867889.1
- XP_016867890.1
- XP_016867891.1
- XP_016867892.1
- XP_016867893.1
- XP_016867894.1
- XP_016867895.1
- XP_016867896.1
- XP_016867897.1
- XP_016867898.1
- XP_016867899.1
- XP_016867900.1
Antibody Products
- Novus Biologicals Antibodies for PPP1R9A
-
Abcam antibodies for PPP1R9A
- Invitrogen Antibodies for PPP1R9A
- GeneTex PPP1R9A antibody for PPP1R9A
-
Santa Cruz Biotechnology (SCBT) Antibodies for PPP1R9A
Protein Products
-
OriGene Purified Proteins for PPP1R9A
- Search Origene for MassSpec and Protein Over-expression Lysates for PPP1R9A
- Origene Custom Protein Services for PPP1R9A
- Search GeneTex for Proteins for PPP1R9A
-
Abcam proteins for PPP1R9A
Assay Products
No data available for DME Specific Peptides for PPP1R9A Gene
Domains & Families for PPP1R9A Gene
Gene Families for PPP1R9A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for PPP1R9A Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for PPP1R9A Gene
Graphical View of Domain Structure for InterPro Entry
Q9ULJ8- 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.
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
| 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 | -- |
Phenotypes for PPP1R9A Gene
- MGI mutant phenotypes for PPP1R9A:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PPP1R9A:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Decreased viability ratio
- Decreased shRNA abundance (Z-score < -2)
- Dynamic nuclei (hole, folded or small irregular)
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance
- Apoptosis resistance
Animal Models for PPP1R9A Gene
- MGI Knock Outs for PPP1R9A:
-
- Ppp1r9a tm1Pggd
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PPP1R9A
-
- Search ViGene Biosciences for PPP1R9A
CRISPR Products
-
OriGene CRISPR knockouts for PPP1R9A
- genomics-online: gRNA clones - Search results for 110 available PPP1R9A gene related products
- Overview of 110 available PPP1R9A gene related products
-
Recommended
- Applied Biological Materials CRISPR for PPP1R9A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PPP1R9A
- GenScript: Design CRISPR guide RNA sequences for PPP1R9A
miRNA for PPP1R9A Gene
- miRTarBase miRNAs that target PPP1R9A
miRNA Products
- Search ViGene Biosciences for PPP1R9A
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PPP1R9A
- Browse OriGene Inhibitory RNA Products For PPP1R9A
- genomics-online: shRNA clones - Search results for 110 available PPP1R9A gene related products
- Overview of 110 available PPP1R9A gene related products
-
Recommended
Clone Products
-
OriGene ORF clones in human for PPP1R9A
- RC229076L1V
- RC229076L2V
- RC228666L1V
- RC228666L2V
- RC229071L1V
- RC229071L2V
- RC229062L1V
- RC229062L2V
- RC212136L1V
- RC212136L2V
- RC229076
- RC229076L1
- RC229076L2
- RG229076
- RC228666
- RC228666L1
- RC228666L2
- RG228666
- RC229071
- RC229071L1
- RC229071L2
- RG229071
- RC229062
- RC229062L1
- RC229062L2
- RG229062
- RC212136
- RG212136
- RC212136L2
- RC212136L1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PPP1R9A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PPP1R9A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 110 available PPP1R9A gene related products
- Overview of 110 available PPP1R9A gene related products
-
Recommended
- orf clones - Search results for 110 available PPP1R9A gene related products
- Overview of 110 available PPP1R9A gene related products
-
Recommended
- Applied Biological Materials Clones for PPP1R9A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PPP1R9A
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.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| cytoskeleton | 3 |
| nucleus | 3 |
- Plasma membrane (2)
| 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 | -- |
Pathways & Interactions for PPP1R9A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activation of cAMP-Dependent PKA |
.77
|
.56
|
| 2 | Beta-Adrenergic Signaling |
.36
|
|
| 3 | mTOR Pathway |
.32
|
|
| 4 | GPCR Pathway | ||
| 5 | Dopamine-DARPP32 Feedback onto cAMP Pathway | ||
Pathways by source for PPP1R9A Gene
1 Tocris pathway for PPP1R9A Gene
14 Qiagen pathways for PPP1R9A Gene
Interacting Proteins for PPP1R9A Gene
Selected Interacting proteins:
Q9ULJ8-NEB1_HUMAN
ENSP00000405514
for PPP1R9A Gene via
IID
MINT
STRING
UniProtKB
| 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 | -- |
No data available for SIGNOR curated interactions for PPP1R9A Gene
Transcripts for PPP1R9A Gene
mRNA/cDNA for PPP1R9A Gene
- (28) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (40) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PPP1R9A Gene
- Protein phosphatase 1, regulatory subunit 9A:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for PPP1R9A
- genomics-online: gRNA clones - Search results for 110 available PPP1R9A gene related products
- Overview of 110 available PPP1R9A gene related products
-
Recommended
- Applied Biological Materials CRISPR for PPP1R9A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PPP1R9A
- GenScript: Design CRISPR guide RNA sequences for PPP1R9A
miRNA Products
- Search ViGene Biosciences for PPP1R9A
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PPP1R9A
- Browse OriGene Inhibitory RNA Products For PPP1R9A
- genomics-online: shRNA clones - Search results for 110 available PPP1R9A gene related products
- Overview of 110 available PPP1R9A gene related products
-
Recommended
Clone Products
-
OriGene ORF clones in human for PPP1R9A
- RC229076L1V
- RC229076L2V
- RC228666L1V
- RC228666L2V
- RC229071L1V
- RC229071L2V
- RC229062L1V
- RC229062L2V
- RC212136L1V
- RC212136L2V
- RC229076
- RC229076L1
- RC229076L2
- RG229076
- RC228666
- RC228666L1
- RC228666L2
- RG228666
- RC229071
- RC229071L1
- RC229071L2
- RG229071
- RC229062
- RC229062L1
- RC229062L2
- RG229062
- RC212136
- RG212136
- RC212136L2
- RC212136L1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PPP1R9A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PPP1R9A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 110 available PPP1R9A gene related products
- Overview of 110 available PPP1R9A gene related products
-
Recommended
- orf clones - Search results for 110 available PPP1R9A gene related products
- Overview of 110 available PPP1R9A gene related products
-
Recommended
- Applied Biological Materials Clones for PPP1R9A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for PPP1R9A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Mature Endothelial Cells Blood Brain Barrier
- Hypothalamus
- Neural Tube (Nervous System)
- Inner Cell Mass (Early Embryonic Tissues)
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Bone (Muscoskeletal System)
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
NURSA nuclear receptor signaling pathways regulating expression of PPP1R9A Gene:
PPP1R9ASOURCE GeneReport for Unigene cluster for PPP1R9A Gene:
Hs.21816Evidence on tissue expression from TISSUES for PPP1R9A Gene
- Nervous system(4.7)
- Intestine(4.1)
Primer Products
-
OriGene qPCR primer pairs for PPP1R9A
- genomics-online: primer clones - Search results for 110 available PPP1R9A gene related products
- Overview of 110 available PPP1R9A gene related products
-
Recommended
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PPP1R9A 33 |
|
||
| dog (Canis familiaris) |
Mammalia | PPP1R9A 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | PPP1R9A 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Ppp1r9a 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Ppp1r9a 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | PPP1R9A 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | PPP1R9A 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PPP1R9A 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | PPP1R9A 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ppp1r9a 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC398380 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ppp1r9a 33 34 |
|
||
| 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)
Paralogs for PPP1R9A Gene
(3) SIMAP similar genes for PPP1R9A Gene using alignment to 5 proteins:
Variants 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 |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP1R9A Gene
Disorders for PPP1R9A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hepatosplenic t-cell lymphoma |
|
|
Search PPP1R9A in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PPP1R9A
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for PPP1R9A Gene
Publications for PPP1R9A Gene
- 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
- 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
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- 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
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Sources for PPP1R9A Gene
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- (68) Cloud-Clone Corp.
- (69) OCA
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- (73) Reactome
- (74) GeneGo (Thomson Reuters)
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