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Aliases for PPFIA4 Gene

Aliases for PPFIA4 Gene

  • PTPRF Interacting Protein Alpha 4 2 3 5
  • Protein Tyrosine Phosphatase, Receptor Type, F Polypeptide (PTPRF), Interacting Protein (Liprin), Alpha 4 2 3
  • Protein Tyrosine Phosphatase Receptor Type F Polypeptide-Interacting Protein Alpha-4 4
  • PTPRF-Interacting Protein Alpha-4 4
  • Liprin-Alpha-4 3
  • Liprin-Alpha4 2
  • KIAA0897 4

External Ids for PPFIA4 Gene

Previous GeneCards Identifiers for PPFIA4 Gene

  • GC01P200707
  • GC01P198454
  • GC01P199474
  • GC01P200283
  • GC01P200296
  • GC01P199735
  • GC01P201263
  • GC01P202995
  • GC01P174185

Summaries for PPFIA4 Gene

Entrez Gene Summary for PPFIA4 Gene

  • PPFIA4, or liprin-alpha-4, belongs to the liprin-alpha gene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprins.[supplied by OMIM, Mar 2008]

GeneCards Summary for PPFIA4 Gene

PPFIA4 (PTPRF Interacting Protein Alpha 4) is a Protein Coding gene. Among its related pathways are Neurotransmitter Release Cycle and Transmission across Chemical Synapses. An important paralog of this gene is PPFIA2.

UniProtKB/Swiss-Prot for PPFIA4 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 (By similarity).

Gene Wiki entry for PPFIA4 Gene

Additional gene information for PPFIA4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPFIA4 Gene

Genomics for PPFIA4 Gene

Regulatory Elements for PPFIA4 Gene

Enhancers for PPFIA4 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
GH01H203035 1.4 Ensembl ENCODE dbSUPER 11.6 +11.6 11616 6.2 PKNOX1 ATF1 RB1 SIN3A ZNF2 RAD21 EGR1 SCRT2 ZNF143 ZNF207 ZC3H11A HNRNPA1P59 MYOG ADORA1 PPFIA4 MYBPH CHI3L1 ZBED6 ENSG00000224671 KDM5B
GH01H203266 1.4 Ensembl ENCODE dbSUPER 11.5 +241.0 241034 1.4 HDAC1 HDGF RB1 ZNF2 RAD21 RFX5 ZNF766 ZNF366 ZNF143 RUNX3 LINC01136 BTG2 RNU6-487P PPFIA4 FMOD LOC100131747 ADORA1 ENSG00000224671 OPTC CHI3L1
GH01H203081 1.3 Ensembl ENCODE dbSUPER 10.8 +58.1 58077 6.6 CTCF PKNOX1 ZSCAN4 ZIC2 ZBTB40 RAD21 ZNF316 EGR1 SMC3 ZNF143 PPFIA4 ADORA1 MYOG LOC105371687
GH01H203051 0.7 ENCODE 18.3 +25.5 25482 1.5 MAZ NFIB ZNF398 ZIC2 ZFHX2 NFIC ZNF341 SCRT2 GLIS1 EGR2 PPFIA4 MYOG ADORA1 MYBPH CHI3L1 ENSG00000224671 FMOD LOC100131747 ATP2B4 PRELP
GH01H203057 0.8 Ensembl ENCODE 13.2 +32.5 32460 2.9 ZFHX2 POLR2A NFXL1 RCOR1 EGR2 PPFIA4 MYOG ADORA1 CHI3L1 FMOD LOC100131747 LOC105371687
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PPFIA4 on UCSC Golden Path with GeneCards custom track

Promoters for PPFIA4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000018372 2 601 HDGF ARNT SIN3A FEZF1 YY1 ZNF766 CBX5 ZNF143 SP3 ZHX2

Genomic Locations for PPFIA4 Gene

Genomic Locations for PPFIA4 Gene
chr1:203,026,498-203,078,740
(GRCh38/hg38)
Size:
52,243 bases
Orientation:
Plus strand
chr1:202,995,626-203,047,868
(GRCh37/hg19)

Genomic View for PPFIA4 Gene

Genes around PPFIA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPFIA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPFIA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPFIA4 Gene

Proteins for PPFIA4 Gene

  • Protein details for PPFIA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75335-LIPA4_HUMAN
    Recommended name:
    Liprin-alpha-4
    Protein Accession:
    O75335
    Secondary Accessions:
    • A2RUJ5
    • B1APN8
    • B1N949
    • B7ZM43
    • O94971

    Protein attributes for PPFIA4 Gene

    Size:
    1185 amino acids
    Molecular mass:
    134404 Da
    Quaternary structure:
    • Forms homodimers and heterodimers with liprins-alpha and liprins-beta. Interacts with the second PTPase domain of PTPRD, PTPRF and PTPRS. Binds RIMS1, RIMS2, GIT1, KIF1A and GRIP1 (By similarity).

    Alternative splice isoforms for PPFIA4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPFIA4 Gene

Post-translational modifications for PPFIA4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PPFIA4 Gene

Domains & Families for PPFIA4 Gene

Gene Families for PPFIA4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PPFIA4 Gene

Graphical View of Domain Structure for InterPro Entry

O75335

UniProtKB/Swiss-Prot:

LIPA4_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 (By similarity).
  • 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 (By similarity).
Family:
  • Belongs to the liprin family. Liprin-alpha subfamily.
genes like me logo Genes that share domains with PPFIA4: view

Function for PPFIA4 Gene

Molecular function for PPFIA4 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 (By similarity).

Phenotypes From GWAS Catalog for PPFIA4 Gene

Gene Ontology (GO) - Molecular Function for PPFIA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12923177
genes like me logo Genes that share ontologies with PPFIA4: view
genes like me logo Genes that share phenotypes with PPFIA4: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPFIA4 Gene

Localization for PPFIA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPFIA4 Gene

Cytoplasm. Cell surface. Note=Colocalizes with PTPRF at the cell surface. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPFIA4 gene
Compartment Confidence
cytosol 5
nucleus 4

Gene Ontology (GO) - Cellular Components for PPFIA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular TAS 9624153
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0009986 cell surface IEA --
GO:0045202 synapse ISS --
genes like me logo Genes that share ontologies with PPFIA4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PPFIA4 Gene

Pathways & Interactions for PPFIA4 Gene

genes like me logo Genes that share pathways with PPFIA4: view

Gene Ontology (GO) - Biological Process for PPFIA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007269 neurotransmitter secretion TAS --
GO:0014047 glutamate secretion TAS --
genes like me logo Genes that share ontologies with PPFIA4: view

No data available for SIGNOR curated interactions for PPFIA4 Gene

Drugs & Compounds for PPFIA4 Gene

No Compound Related Data Available

Transcripts for PPFIA4 Gene

Unigene Clusters for PPFIA4 Gene

Protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPFIA4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b · 18c · 18d
SP1: - - -
SP2: - - -
SP3:
SP4: -
SP5: -

Relevant External Links for PPFIA4 Gene

GeneLoc Exon Structure for
PPFIA4
ECgene alternative splicing isoforms for
PPFIA4

Expression for PPFIA4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPFIA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PPFIA4 Gene

This gene is overexpressed in Brain - Cerebellum (x13.7) and Brain - Cerebellar Hemisphere (x12.7).

Protein differential expression in normal tissues from HIPED for PPFIA4 Gene

This gene is overexpressed in Frontal cortex (36.0), Tlymphocyte (18.0), and Brain (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PPFIA4 Gene



Protein tissue co-expression partners for PPFIA4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPFIA4 Gene:

PPFIA4

SOURCE GeneReport for Unigene cluster for PPFIA4 Gene:

Hs.153648

mRNA Expression by UniProt/SwissProt for PPFIA4 Gene:

O75335-LIPA4_HUMAN
Tissue specificity: Expressed only in the heart, brain, and skeletal muscle.

Evidence on tissue expression from TISSUES for PPFIA4 Gene

  • Nervous system(4.5)
  • Heart(4.2)
  • Kidney(4.1)
genes like me logo Genes that share expression patterns with PPFIA4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PPFIA4 Gene

Orthologs for PPFIA4 Gene

This gene was present in the common ancestor of animals.

Orthologs for PPFIA4 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Ppfia4 34
  • 55 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PPFIA4 34
  • 53 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPFIA4 34
  • 53 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PPFIA4 34
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPFIA4 34
  • 10 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPFIA4 34
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPFIA4 34
  • 47 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ppfia4 34
  • 40 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11206 35
  • 33 (a)
Liprin-alpha 34
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea syd-2 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 26 (a)
OneToMany
Species where no ortholog for PPFIA4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PPFIA4 Gene

ENSEMBL:
Gene Tree for PPFIA4 (if available)
TreeFam:
Gene Tree for PPFIA4 (if available)

Paralogs for PPFIA4 Gene

Paralogs for PPFIA4 Gene

(4) SIMAP similar genes for PPFIA4 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PPFIA4: view

Variants for PPFIA4 Gene

Sequence variations from dbSNP and Humsavar for PPFIA4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000119517 -- 203,064,898(+) GGATT(G/T)GGCAG intron-variant
rs1000123305 -- 203,031,501(+) GACCA(C/T)ATACT intron-variant
rs1000185761 -- 203,025,729(+) TGTAT(A/G)TATCT upstream-variant-2KB
rs1000212297 -- 203,049,831(+) GGAGA(C/T)TTCCT intron-variant
rs1000238832 -- 203,031,771(+) TTCTT(C/T)TTCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PPFIA4 Gene

Variant ID Type Subtype PubMed ID
nsv832370 CNV loss 17160897
nsv549000 CNV loss 21841781
nsv522340 CNV loss 19592680
nsv519378 CNV loss 19592680
nsv467983 CNV loss 19166990
nsv4143 CNV deletion 18451855
esv22303 CNV gain 19812545

Variation tolerance for PPFIA4 Gene

Residual Variation Intolerance Score: 25.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.15; 80.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPFIA4 Gene

Human Gene Mutation Database (HGMD)
PPFIA4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPFIA4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPFIA4 Gene

Disorders for PPFIA4 Gene

Relevant External Links for PPFIA4

Genetic Association Database (GAD)
PPFIA4
Human Genome Epidemiology (HuGE) Navigator
PPFIA4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPFIA4

No disorders were found for PPFIA4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PPFIA4 Gene

Publications for PPFIA4 Gene

  1. Identification and characterization of human PPFIA4 gene in silico. (PMID: 14612982) Katoh M … Katoh M (International journal of molecular medicine 2003) 3 4 22 60
  2. 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 60
  3. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 45 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4 60

Products for PPFIA4 Gene

Sources for PPFIA4 Gene

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