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The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesi... See more...
Aliases for PPFIA3 Gene
Aliases for PPFIA3 Gene
- PTPRF Interacting Protein Alpha 3 2 3 5
- Protein Tyrosine Phosphatase, Receptor Type, F Polypeptide (PTPRF), Interacting Protein (Liprin), Alpha 3 2 3
- Protein Tyrosine Phosphatase Receptor Type F Polypeptide-Interacting Protein Alpha-3 3 4
- Protein Tyrosine Phosphatase, Receptor Type, F Polypeptide, Alpha 3 2 3
- Liprin-Alpha-3 3 4
- KIAA0654 2 4
External Ids for PPFIA3 Gene
- HGNC: 9247
- NCBI Entrez Gene: 8541
- Ensembl: ENSG00000177380
- OMIM®: 603144
- UniProtKB/Swiss-Prot: O75145
Previous GeneCards Identifiers for PPFIA3 Gene
- GC19P050280
- GC19P049990
- GC19P054299
- GC19P054314
- GC19P049622
- GC19P045998
Summaries for PPFIA3 Gene
-
The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [provided by RefSeq, Jul 2008]
GeneCards Summary for PPFIA3 Gene
PPFIA3 (PTPRF Interacting Protein Alpha 3) is a Protein Coding gene. Diseases associated with PPFIA3 include Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia and Non-Syndromic X-Linked Intellectual Disability. Among its related pathways are Neurotransmitter Release Cycle and Transmission across Chemical Synapses. An important paralog of this gene is PPFIA1.
UniProtKB/Swiss-Prot Summary for PPFIA3 Gene
-
May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates.
Additional gene information for PPFIA3 Gene
- HGNC (9247)
- NCBI Entrez Gene (8541)
- Ensembl (ENSG00000177380)
- OMIM® (603144)
- UniProtKB/Swiss-Prot (O75145)
- Open Targets Platform(ENSG00000177380)
- Search for PPFIA3 at DataMed
- Search for PPFIA3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPFIA3 Gene
Genomics for PPFIA3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PPFIA3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PPFIA3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPFIA3
- Top Transcription factor binding sites by QIAGEN in the PPFIA3 gene promoter:
-
- GATA-3
- NF-1
- NF-1/L
- NF-kappaB
- NF-kappaB1
- Pax-5
- PPAR-alpha
- PPAR-gamma1
- PPAR-gamma2
- RelA
Genomic Locations for PPFIA3 Gene
Latest Assembly
- chr19:49,119,389-49,151,030
- (GRCh38/hg38)
- Size:
- 31,642 bases
- Orientation:
- Plus strand
Previous Assembly
- chr19:49,622,801-49,654,283
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 31,483 bases
- Orientation:
- Plus strand
- chr19:49,622,646-49,654,283
- (GRCh37/hg19 by Ensembl)
- Size:
- 31,638 bases
- Orientation:
- Plus strand
Genomic View for PPFIA3 Gene
Genes around PPFIA3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.33 by HGNC
- 19q13.33 by Entrez Gene
- 19q13.33 by Ensembl
PPFIA3 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 PPFIA3 Gene
Proteins for PPFIA3 Gene
-
Protein details for PPFIA3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O75145-LIPA3_HUMAN
- Recommended name:
- Liprin-alpha-3
- Protein Accession:
- O75145
- A8K142
- Q3MJA0
- Q9H8B5
- Q9UEW4
Protein attributes for PPFIA3 Gene
- Size:
- 1194 amino acids
- Molecular mass:
- 133496 Da
- Quaternary structure:
-
- Forms homodimers and heterodimers with liprins-alpha and liprins-beta (PubMed:9624153). Interacts with the second PTPase domain of PTPRD, PTPRF and PTPRS (PubMed:9624153). Binds RIMS1, RIMS2, RIMS3 and RIMS4 (By similarity).
- SequenceCaution:
-
- Sequence=BAA31629.2; Type=Erroneous initiation; Evidence={ECO:0000305};
- Miscellaneous:
-
- [Isoform 2]: May be due to exon skipping.
Protein Expression for PPFIA3 Gene
Post-translational modifications for PPFIA3 Gene
Other Protein References for PPFIA3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences PPFIA3 Antibody
- Novus Biologicals Antibodies for PPFIA3
- Invitrogen Antibodies for PPFIA3 (AFLGC-PPFIA3)
-
Biorbyt antibodies for PPFIA3
-
Boster Bio Antibodies for PPFIA3
Protein products for research
-
OriGene Purified Proteins for PPFIA3
- Search Origene for MassSpec and Protein Over-expression Lysates for PPFIA3
- Origene Custom Protein Services for PPFIA3
- Novus Biologicals proteins for PPFIA3
- antibodies-online: Show 3 available PPFIA3 Proteins ranked by validation data
- Compare Top PPFIA3 Proteins
-
Quality Products:
Assay products for research
No data available for DME Specific Peptides for PPFIA3 Gene
Domains & Families for PPFIA3 Gene
Gene Families for PPFIA3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for PPFIA3 Gene
- InterPro:
- Blocks:
-
- Sterile alpha motif SAM
- Sterile alpha motif homology 2
- ProtoNet:
Suggested Antigen Peptide Sequences for PPFIA3 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ60233, highly similar to Liprin-alpha-3 (B4DEU8_HUMAN)
- Protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-3 (LIPA3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O75145UniProtKB/Swiss-Prot:
LIPA3_HUMAN :- The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type alpha/alpha. The C-terminal, non-coiled coil regions mediate heterodimerization type alpha/beta and interaction with PTPRD, PTPRF and PTPRS.
- Belongs to the liprin family. Liprin-alpha subfamily.
- Domain:
-
- The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type alpha/alpha. The C-terminal, non-coiled coil regions mediate heterodimerization type alpha/beta and interaction with PTPRD, PTPRF and PTPRS.
- Family:
-
- Belongs to the liprin family. Liprin-alpha subfamily.
Function for PPFIA3 Gene
Molecular function for PPFIA3 Gene
- UniProtKB/Swiss-Prot Function:
- May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates.
- GENATLAS Biochemistry:
- protein tyrosine phosphatase, receptor type,f polypeptide (PTPRF),interacting protein (liprin),alpha 3,expressed in brain,>100kDa,related to LAR-interacting protein LIP1B
Phenotypes From GWAS Catalog for PPFIA3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA,IPI | 12923177 |
Phenotypes for PPFIA3 Gene
- MGI mutant phenotypes for PPFIA3:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for PPFIA3:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased vaccinia virus (VACV) infection
- Decreased viability
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Decreased nuclei size in G2M
- Decreased cilium length after serum starvation
- Increased apoptosis
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PPFIA3 - Starting at $85 >
- * PPFIA3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PPFIA3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PPFIA3
-
Santa Cruz Biotechnology (SCBT) CRISPR for PPFIA3
miRNA for PPFIA3 Gene
- miRTarBase miRNAs that target PPFIA3
-
- hsa-miR-7111-5p (MIRT489110)
- hsa-miR-5698 (MIRT489111)
- hsa-miR-6870-5p (MIRT489112)
- hsa-miR-4723-5p (MIRT489113)
- hsa-miR-6883-5p (MIRT489114)
- hsa-miR-6785-5p (MIRT489115)
- hsa-miR-4728-5p (MIRT489116)
- hsa-miR-149-3p (MIRT489117)
- hsa-miR-8085 (MIRT489118)
- hsa-miR-6797-5p (MIRT489119)
- hsa-miR-6731-5p (MIRT489120)
- hsa-miR-1249-5p (MIRT489121)
- hsa-miR-6133 (MIRT489122)
- hsa-miR-6130 (MIRT489123)
- hsa-miR-6129 (MIRT489124)
- hsa-miR-6127 (MIRT489125)
- hsa-miR-4510 (MIRT489126)
- hsa-miR-4419a (MIRT489127)
- hsa-miR-4462 (MIRT489128)
- hsa-miR-6760-5p (MIRT489129)
- hsa-miR-6783-5p (MIRT489130)
- hsa-miR-602 (MIRT489131)
- mmu-miR-3089-5p (MIRT600519)
- mmu-miR-1195 (MIRT600520)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PPFIA3
- Browse OriGene Inhibitory RNA Products For PPFIA3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPFIA3
Clone products for research
- Applied Biological Materials (abm): Clones for PPFIA3 - Starting at $45 >
- * PPFIA3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PPFIA3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PPFIA3
Cell Lines for research
-
Horizon Cell Lines for PPFIA3
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPFIA3 Gene
Localization for PPFIA3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PPFIA3 Gene
- Cytoplasm. Cytoplasmic vesicle, secretory vesicle, acrosome. Note=Also detected in epididymosome. {ECO:0000250 UniProtKB:Q91Z79}.
| Compartment | Confidence |
|---|---|
| extracellular | 4 |
| cytosol | 4 |
| nucleus | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoli fibrillar center (1)
- Vesicles (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001669 | acrosomal vesicle | IEA,IDA | 23124857 |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0031410 | cytoplasmic vesicle | IEA | -- |
| GO:0045202 | synapse | IEA | -- |
Pathways & Interactions for PPFIA3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Neurotransmitter Release Cycle | ||
| 2 | Transmission across Chemical Synapses |
.62
|
|
Pathways by source for PPFIA3 Gene
Interacting Proteins for PPFIA3 Gene
Selected Interacting proteins:
O75145-LIPA3_HUMAN
ENSP00000335614
for PPFIA3 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for PPFIA3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007269 | neurotransmitter secretion | IEA,TAS | -- |
| GO:0014047 | glutamate secretion | TAS | -- |
| GO:0016079 | synaptic vesicle exocytosis | IEA | -- |
| GO:0016081 | synaptic vesicle docking | IEA | -- |
| GO:0048172 | regulation of short-term neuronal synaptic plasticity | ISS | -- |
No data available for SIGNOR curated interactions for PPFIA3 Gene
Transcripts for PPFIA3 Gene
mRNA/cDNA for PPFIA3 Gene
- 1 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000334186 4583 nts (view in UCSC)
- ENST00000421230 2236 nts (view in UCSC)
- ENST00000602351 4341 nts (view in UCSC)
- ENST00000602492 740 nts (view in UCSC)
- ENST00000602509 547 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PPFIA3 - Starting at $85 >
- * PPFIA3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PPFIA3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PPFIA3
-
Santa Cruz Biotechnology (SCBT) CRISPR for PPFIA3
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PPFIA3
- Browse OriGene Inhibitory RNA Products For PPFIA3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPFIA3
Clone products for research
- Applied Biological Materials (abm): Clones for PPFIA3 - Starting at $45 >
- * PPFIA3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PPFIA3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PPFIA3
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: |
| ExUns: | 17a | · | 17b | ^ | 18a | · | 18b | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24a | · | 24b | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28a | · | 28b | ^ | 29a | · | 29b | · | 29c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||||||||||||||
| SP14: | |||||||||||||||||||||||||||||||||||||||
| SP15: |
Relevant External Links for PPFIA3 Gene
- GeneLoc Exon Structure for
- PPFIA3
Expression for PPFIA3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
mRNA differential expression in normal tissues according to GTEx for PPFIA3 Gene
This gene is overexpressed in Brain - Cortex (x4.9), Pituitary (x4.2), and Brain - Frontal Cortex (BA9) (x4.0).
This gene is overexpressed in Brain (28.4), Frontal cortex (21.3), and Fetal Brain (8.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPFIA3 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPFIA3
SOURCE GeneReport for Unigene cluster for PPFIA3 Gene:
Hs.413748mRNA Expression by UniProt/SwissProt for PPFIA3 Gene:
O75145-LIPA3_HUMAN
Tissue specificity:
Predominantly expressed in brain (PubMed:9624153). Also detected in sperm (at protein level) (PubMed:23124857).
Evidence on tissue expression from TISSUES for PPFIA3 Gene
- Nervous system(4.8)
- Muscle(4.3)
- Skin(2.3)
Primer products for research
-
OriGene qPCR primer pairs for PPFIA3
-
OriGene qPCR primer pairs and template standards for PPFIA3
Gene Expression Assays for research
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PPFIA3 Gene
Orthologs for PPFIA3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PPFIA3 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PPFIA3 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PPFIA3 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ppfia3 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ppfia3 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | PPFIA3 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PPFIA3 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PPFIA3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ppfia3 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ppfia3 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Liprin-alpha 31 |
|
OneToMany | |
| CG11206 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | syd-2 31 32 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for PPFIA3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- Chicken (Gallus gallus)
- 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)
- 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 Vase (Ciona intestinalis)
- 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)
Evolution for PPFIA3 Gene
- ENSEMBL:
- Gene Tree for PPFIA3 (if available)
- TreeFam:
- Gene Tree for PPFIA3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PPFIA3: view image
Paralogs for PPFIA3 Gene
Variants for PPFIA3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPFIA3 Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 916246 | Likely Benign: not provided | 49,148,154(+) |
A/G NM_003660.4(PPFIA3):c.2907A>G (p.Gln969=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
| 992304 | Uncertain Significance: not provided | 49,135,876(+) |
GCA/G NM_003660.4(PPFIA3):c.1619_1620del (p.Ala540fs) |
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT | |
| rs2303053 | - |
p.Ala563Ser |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv3619n100 | CNV | gain | 25217958 |
| dgv3620n100 | CNV | gain | 25217958 |
| dgv3621n100 | CNV | gain | 25217958 |
| dgv667e214 | CNV | gain | 21293372 |
| esv2760526 | CNV | gain | 21179565 |
| esv3644616 | CNV | gain | 21293372 |
| nsv1060108 | CNV | gain | 25217958 |
| nsv470149 | CNV | loss | 18288195 |
| nsv524235 | CNV | gain | 19592680 |
| nsv819445 | CNV | gain | 19587683 |
| nsv833857 | CNV | loss | 17160897 |
| nsv833859 | CNV | loss | 17160897 |
| nsv9739 | CNV | gain+loss | 18304495 |
Residual Variation Intolerance Score:
2.51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
10.73;
91.54% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PPFIA3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- PPFIA3
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPFIA3 Gene
Disorders for PPFIA3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mental retardation and microcephaly with pontine and cerebellar hypoplasia |
|
|
| non-syndromic x-linked intellectual disability |
|
|
Search PPFIA3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PPFIA3
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for PPFIA3 Gene
Publications for PPFIA3 Gene
- Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4
- Liprins, a family of LAR transmembrane protein-tyrosine phosphatase-interacting proteins. (PMID: 9624153) Serra-Pagès C … Streuli M (The Journal of biological chemistry 1998) 2 3 4
- Liprin α3: a putative estrogen regulated acrosomal protein. (PMID: 23124857) Joshi CS … Khole VV (Histochemistry and cell biology 2013) 3 4
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
ExternalLinks
Products for PPFIA3 Gene
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Sources for PPFIA3 Gene
- (1) GeneCards
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