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 Activation of cAMP-Dependent PKA and Beta-Adrenergic 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).
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 | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
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 |
|---|
ENSRs around PPP1R9A on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the PPP1R9A gene promoter:
Regulatory Element Products
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:
-
- 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
Other Protein References for PPP1R9A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for PPP1R9A
- Invitrogen Antibodies for PPP1R9A
- antibodies-online Antibodies for PPP1R9A: See all 49
- GeneTex PPP1R9A antibody for PPP1R9A
-
Santa Cruz Biotechnology (SCBT) Antibodies for PPP1R9A
Protein Products
-
OriGene Purified Proteins for PPP1R9A
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Assay Products
No data available for DME Specific Peptides for PPP1R9A Gene
Domains & Families for PPP1R9A Gene
Gene Families for PPP1R9A Gene
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.
- Contains 1 PDZ (DHR) domain.
- Contains 1 SAM (sterile alpha motif) domain.
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).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0044325 | ion channel binding | IEA | -- |
| GO:0051015 | actin filament binding | IBA | -- |
Phenotypes for PPP1R9A Gene
- MGI mutant phenotypes for PPP1R9A:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PPP1R9A:
-
- Increased vaccinia virus (VACV) infection
- 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 Mouse Models for PPP1R9A
- Search ViGene Biosciences for PPP1R9A
CRISPR Products
-
OriGene CRISPR knockouts for PPP1R9A
-
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
Clone Products
- OriGene clones in human for PPP1R9A
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Cell Line 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.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| cytoskeleton | 4 |
| nucleus | 3 |
| 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 | -- |
Pathways & Interactions for PPP1R9A Gene
More details on SuperPathways for PPP1R9A| Superpath | 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
MINT
STRING
UniProtKB
I2D
| 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 | -- |
No data available for SIGNOR curated interactions for PPP1R9A Gene
Drugs & Compounds for PPP1R9A Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Tumor necrosis factor alpha (TNF-alpha) inhibitors | Pharma | 0 |
Transcripts for PPP1R9A Gene
mRNA/cDNA for PPP1R9A Gene
- (20) 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
-
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
Clone Products
- OriGene clones in human for PPP1R9A
- OriGene ORF clones in human,mouse,rat for PPP1R9A
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
| 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, MOPED, and MaxQB for PPP1R9A Gene
SOURCE GeneReport for Unigene cluster for PPP1R9A Gene Hs.21816
Primer Products
-
OriGene qPCR primer pairs for PPP1R9A
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| dog (Canis familiaris) |
Mammalia | PPP1R9A 35 |
|
||
| PPP1R9A 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Ppp1r9a 35 |
|
||
| Ppp1r9a 16 |
|
||||
| Ppp1r9a 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | PPP1R9A 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ppp1r9a 35 |
|
||
| cow (Bos Taurus) |
Mammalia | PPP1R9A 36 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | PPP1R9A 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PPP1R9A 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PPP1R9A 35 |
|
||
| PPP1R9A 36 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | PPP1R9A 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ppp1r9a 35 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC398380 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | Dr.27035 35 |
|
||
| ppp1r9a 35 |
|
||||
| ppp1r9a 36 |
|
OneToOne | |||
| 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)
Paralogs for PPP1R9A Gene
(3) SIMAP similar genes for PPP1R9A Gene using alignment to 5 proteins:
Pseudogenes.org Pseudogenes for PPP1R9A Gene
Variants for PPP1R9A Gene
| SNP ID | Clin | Chr 07 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs10230714 | - | 94,911,104(+) | AGGCA(A/G)TGCCA | reference, missense | |
| rs854516 | -- | 95,259,279(+) | GGTAC(A/G)TGGTT | intron-variant | |
| rs854517 | -- | 95,263,671(+) | TCCCA(A/G)AGTGC | intron-variant | |
| rs854518 | -- | 95,264,522(+) | ATTTC(A/G/T)TAGAG | intron-variant | |
| rs854519 | -- | 95,265,353(+) | GTGGT(A/G)CAAGT | intron-variant |
| 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 |
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)
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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
Relevant External Links for PPP1R9A
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 Res. 1999) 2 3 4 67
- 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
- Altered prefrontal cortical MARCKS and PPP1R9A mRNA expression in schizophrenia and bipolar disorder. (PMID: 25757715) Konopaske G.T. … Benes F.M. (Schizophr. Res. 2015) 3
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
- A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
Products for PPP1R9A Gene
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- OriGene qPCR primer pairs for PPP1R9A
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Sources for PPP1R9A Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
- (71) Tufts
- (72) YEDA
- (73) CROW21
- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
- (91) DISEASES
- (92) SIMAP
- (93) GenomeRNAi
- (94) LifeMap
- (95) miRTarBase
- (96) MalaCards
- (97) Invitrogen
- (98) BitterDB
- (99) Vector BioLabs
- (100) ESI-BIO
- (101) RefSeq
- (102) BioSystems
- (103) MaxQB
- (104) IUPHAR
- (105) BioGPS
- (106) Illumina
- (107) COMPARTMENTS
- (108) HOMER
- (109) PaxDb
- (110) ApexBio
- (111) Addgene
- (112) Advanced Cell Diagnostics
- (113) antibodies-online
- (114) CYP
- (115) NONCODE
- (116) SwitchGear Genomics
- (117) TreeFam
- (118) PathCards
- (119) GeneReviews
- (120) GeneTex
- (121) Taconic Biosciences
- (122) GTEx
- (123) ProteomicsDB
- (124) SCBT
- (125) DGIdb
- (126) ClinicalTrials
- (127) FDA Approved Drugs
- (128) RVIS
- (129) SIGNOR
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