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Aliases for PIK3IP1 Gene

Aliases for PIK3IP1 Gene

  • Phosphoinositide-3-Kinase Interacting Protein 1 2 3 5
  • Kringle Domain-Containing Protein HGFL 3 4
  • HGFL 3 4
  • Phosphoinositide-3-Kinase-Interacting Protein 1 3
  • HHGFL(S) 3

External Ids for PIK3IP1 Gene

Previous GeneCards Identifiers for PIK3IP1 Gene

  • GC22M030007
  • GC22M031677
  • GC22M014641

Summaries for PIK3IP1 Gene

GeneCards Summary for PIK3IP1 Gene

PIK3IP1 (Phosphoinositide-3-Kinase Interacting Protein 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol 3-kinase catalytic subunit binding.

UniProtKB/Swiss-Prot for PIK3IP1 Gene

  • Negative regulator of hepatic phosphatidylinositol 3-kinase (PI3K) activity.

Gene Wiki entry for PIK3IP1 Gene

Additional gene information for PIK3IP1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIK3IP1 Gene

Genomics for PIK3IP1 Gene

GeneHancer (GH) Regulatory Elements for PIK3IP1 Gene

Promoters and enhancers for PIK3IP1 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
GH22J031283 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 659.8 +3.4 3431 10.5 PKNOX1 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 PIK3IP1 PIR44742 SFI1 RNU6-1128P RPS17P16 PATZ1 LINC01521 RNF185 LIMK2 SMTN
GH22J031623 Promoter/Enhancer 2.9 VISTA EPDnew Ensembl ENCODE dbSUPER 6.3 -335.1 -335149 8.6 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF766 PISD TUG1 PRR14L DEPDC5 SLC5A4 LOC100422292 MORC2 SFI1 DUSP18 RTCB
GH22J031209 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.9 +80.9 80919 4.3 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 LIMK2 RNF185 SF3A1 TUG1 ENSG00000214125 PLA2G3 PRR14L MORC2 TBC1D10A PIK3IP1
GH22J031658 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 7.1 -368.5 -368513 5.2 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 PISD TUG1 RTCB MORC2 PRR14L DEPDC5 RNF185 RPS17P16 EIF4ENIF1 ENSG00000240591
GH22J031247 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.9 +41.3 41270 8.5 HDGF PKNOX1 MLX ARID4B SIN3A RARA ZNF614 ZNF366 ATF7 THAP11 LIMK2 GC22P031249 SFI1 RNU6-1128P RNF185 PIK3IP1 MORC2 PPP1R14BP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIK3IP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PIK3IP1 gene promoter:
  • AREB6
  • Hand1
  • E47
  • IRF-2
  • c-Myc
  • AP-4
  • AML1a
  • Max
  • FOXF2

Genomic Locations for PIK3IP1 Gene

Genomic Locations for PIK3IP1 Gene
chr22:31,281,593-31,292,534
(GRCh38/hg38)
Size:
10,942 bases
Orientation:
Minus strand
chr22:31,677,579-31,688,520
(GRCh37/hg19)
Size:
10,942 bases
Orientation:
Minus strand

Genomic View for PIK3IP1 Gene

Genes around PIK3IP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIK3IP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIK3IP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIK3IP1 Gene

Proteins for PIK3IP1 Gene

  • Protein details for PIK3IP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96FE7-P3IP1_HUMAN
    Recommended name:
    Phosphoinositide-3-kinase-interacting protein 1
    Protein Accession:
    Q96FE7
    Secondary Accessions:
    • B4DRR9
    • D1MEI0
    • O00318
    • Q49A94
    • Q86YW2
    • Q8NCJ9

    Protein attributes for PIK3IP1 Gene

    Size:
    263 amino acids
    Molecular mass:
    28248 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PIK3IP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIK3IP1 Gene

Post-translational modifications for PIK3IP1 Gene

  • N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. N-glycan heterogeneity at Asn-66: dHex1Hex5HexNAc4 (major) and dHex1Hex6HexNAc5 (minor).
  • Glycosylation at Asn66 and Ser39
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • P3IP1_HUMAN (686)

Other Protein References for PIK3IP1 Gene

Antibody Products

  • Abcam antibodies for PIK3IP1
  • Boster Bio Antibodies for PIK3IP1

No data available for DME Specific Peptides for PIK3IP1 Gene

Domains & Families for PIK3IP1 Gene

Gene Families for PIK3IP1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for PIK3IP1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PIK3IP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PIK3IP1: view

No data available for UniProtKB/Swiss-Prot for PIK3IP1 Gene

Function for PIK3IP1 Gene

Molecular function for PIK3IP1 Gene

UniProtKB/Swiss-Prot Function:
Negative regulator of hepatic phosphatidylinositol 3-kinase (PI3K) activity.

Phenotypes From GWAS Catalog for PIK3IP1 Gene

Gene Ontology (GO) - Molecular Function for PIK3IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0036313 phosphatidylinositol 3-kinase catalytic subunit binding IPI 17475214
genes like me logo Genes that share ontologies with PIK3IP1: view
genes like me logo Genes that share phenotypes with PIK3IP1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PIK3IP1

miRNA for PIK3IP1 Gene

miRTarBase miRNAs that target PIK3IP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PIK3IP1 Gene

Localization for PIK3IP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIK3IP1 Gene

Cell membrane; Single-pass type I membrane protein.

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 PIK3IP1 gene
Compartment Confidence
plasma membrane 5
extracellular 5

Gene Ontology (GO) - Cellular Components for PIK3IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA --
genes like me logo Genes that share ontologies with PIK3IP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PIK3IP1 Gene

Pathways & Interactions for PIK3IP1 Gene

SuperPathways for PIK3IP1 Gene

No Data Available

Interacting Proteins for PIK3IP1 Gene

Gene Ontology (GO) - Biological Process for PIK3IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014067 negative regulation of phosphatidylinositol 3-kinase signaling IDA 17475214
GO:0043553 negative regulation of phosphatidylinositol 3-kinase activity ISS --
genes like me logo Genes that share ontologies with PIK3IP1: view

No data available for Pathways by source and SIGNOR curated interactions for PIK3IP1 Gene

Drugs & Compounds for PIK3IP1 Gene

No Compound Related Data Available

Transcripts for PIK3IP1 Gene

mRNA/cDNA for PIK3IP1 Gene

Unigene Clusters for PIK3IP1 Gene

Phosphoinositide-3-kinase interacting protein 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PIK3IP1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d
SP1: - - - -
SP2: - - - -
SP3: - -
SP4: - - - - -
SP5: - - - -
SP6: -
SP7: - - -
SP8: -

Relevant External Links for PIK3IP1 Gene

GeneLoc Exon Structure for
PIK3IP1
ECgene alternative splicing isoforms for
PIK3IP1

Expression for PIK3IP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PIK3IP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PIK3IP1 Gene

This gene is overexpressed in Whole Blood (x4.2).

Protein differential expression in normal tissues from HIPED for PIK3IP1 Gene

This gene is overexpressed in Urine (55.0) and Amniocyte (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PIK3IP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of PIK3IP1 Gene:

PIK3IP1

SOURCE GeneReport for Unigene cluster for PIK3IP1 Gene:

Hs.26670

Evidence on tissue expression from TISSUES for PIK3IP1 Gene

  • Nervous system(4.9)
  • Spleen(2.4)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with PIK3IP1: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIK3IP1 Gene

Orthologs for PIK3IP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PIK3IP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIK3IP1 34 33
  • 99.37 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PIK3IP1 34 33
  • 87.96 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PIK3IP1 34 33
  • 86.85 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pik3ip1 33
  • 83.6 (n)
mouse
(Mus musculus)
Mammalia Pik3ip1 16 34 33
  • 82.26 (n)
oppossum
(Monodelphis domestica)
Mammalia PIK3IP1 34
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIK3IP1 34
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIK3IP1 34 33
  • 66.01 (n)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pik3ip1 34 33
  • 57.02 (n)
OneToOne
-- 33
Species where no ortholog for PIK3IP1 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)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PIK3IP1 Gene

ENSEMBL:
Gene Tree for PIK3IP1 (if available)
TreeFam:
Gene Tree for PIK3IP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PIK3IP1: view image

Paralogs for PIK3IP1 Gene

No data available for Paralogs for PIK3IP1 Gene

Variants for PIK3IP1 Gene

Sequence variations from dbSNP and Humsavar for PIK3IP1 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000017898 -- 31,287,127(-) C/T intron_variant
rs1000402658 -- 31,282,510(-) C/G/T 3_prime_UTR_variant
rs1000514021 -- 31,287,630(-) A/G intron_variant
rs1000623513 -- 31,288,779(-) A/G intron_variant
rs1000684296 -- 31,294,128(-) A/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PIK3IP1 Gene

Variant ID Type Subtype PubMed ID
nsv1110864 OTHER inversion 24896259
nsv459871 CNV loss 19166990
nsv588893 CNV loss 21841781
nsv834176 CNV loss 17160897

Variation tolerance for PIK3IP1 Gene

Residual Variation Intolerance Score: 68.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.97; 36.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIK3IP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIK3IP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIK3IP1 Gene

Disorders for PIK3IP1 Gene

Additional Disease Information for PIK3IP1

No disorders were found for PIK3IP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PIK3IP1 Gene

Publications for PIK3IP1 Gene

  1. [Both PIK3IP1 and its novel found splicing isoform, PIK3IP1-v1, are located on cell membrane and induce cell apoptosis]. (PMID: 19088825) Gao P … Ma DL (Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2008) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 2004) 3 4 58
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 58
  5. 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 58

Products for PIK3IP1 Gene

Sources for PIK3IP1 Gene

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