Aliases for IPCEF1 Gene

Aliases for IPCEF1 Gene

  • Interaction Protein For Cytohesin Exchange Factors 1 2 3 5
  • Interactor Protein For Cytohesin Exchange Factors 1 3 4
  • Phosphoinositide-Binding Protein PIP3-E 3 4
  • KIAA0403 2 4
  • PIP3-E 2 3
  • Interaction Protein For Cytohesin Exchange Factors 1 Interaction Protein For Cytohesin Exchange Factors 1 3
  • Phosphoinositide Binding Protein PIP3-E 2
  • IPCEF1 5

External Ids for IPCEF1 Gene

Previous GeneCards Identifiers for IPCEF1 Gene

  • GC06M154517
  • GC06M152038

Summaries for IPCEF1 Gene

GeneCards Summary for IPCEF1 Gene

IPCEF1 (Interaction Protein For Cytohesin Exchange Factors 1) is a Protein Coding gene. Diseases associated with IPCEF1 include Excessive Tearing. Among its related pathways are Arf6 signaling events and AKT Signaling Pathway. Gene Ontology (GO) annotations related to this gene include peroxidase activity and oxygen carrier activity. An important paralog of this gene is CNKSR2.

UniProtKB/Swiss-Prot Summary for IPCEF1 Gene

  • Enhances the promotion of guanine-nucleotide exchange by PSCD2 on ARF6 in a concentration-dependent manner.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IPCEF1 Gene

Genomics for IPCEF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IPCEF1 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
GH06J154355 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 250.7 +1.6 1648 0.6 BCLAF1 SP1 MYC NCOR1 BCL11A TRIM22 HES1 BHLHE40 GABPA IRF4 IPCEF1 HSALNG0054462 ENSG00000288520 OPRM1
GH06J154357 Promoter/Enhancer 0.9 EPDnew ENCODE dbSUPER 250.7 0.0 -39 0.2 SPI1 POLR2A IKZF1 IKZF2 IPCEF1 LOC105378067 ENSG00000288520
GH06J154267 Promoter/Enhancer 0.7 EPDnew Ensembl ENCODE 250.2 +88.3 88302 1.8 IPCEF1 HSALNG0054461 lnc-CNKSR3-3 ENSG00000288520 OPRM1
GH06J154358 Promoter/Enhancer 0.5 Ensembl dbSUPER 250.7 -1.0 -998 0.4 IPCEF1 LOC105378067 ENSG00000288520
GH06J154356 Promoter/Enhancer 0.5 Ensembl dbSUPER 250.7 +0.6 602 0.8 IPCEF1 HSALNG0054462 ENSG00000288520 OPRM1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IPCEF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IPCEF1

Top Transcription factor binding sites by QIAGEN in the IPCEF1 gene promoter:
  • FOXC1
  • Lhx3a
  • LHX3b
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • STAT5A
  • STAT5B

Genomic Locations for IPCEF1 Gene

Latest Assembly
chr6:154,154,496-154,356,803
(GRCh38/hg38)
Size:
202,308 bases
Orientation:
Minus strand

Previous Assembly
chr6:154,475,631-154,677,937
(GRCh37/hg19 by Entrez Gene)
Size:
202,307 bases
Orientation:
Minus strand

chr6:154,475,631-154,677,926
(GRCh37/hg19 by Ensembl)
Size:
202,296 bases
Orientation:
Minus strand

Genomic View for IPCEF1 Gene

Genes around IPCEF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IPCEF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IPCEF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IPCEF1 Gene

Proteins for IPCEF1 Gene

  • Protein details for IPCEF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWN9-ICEF1_HUMAN
    Recommended name:
    Interactor protein for cytohesin exchange factors 1
    Protein Accession:
    Q8WWN9
    Secondary Accessions:
    • A8K1K2
    • B7ZL78
    • B7ZL80
    • G3V132
    • O43153
    • Q5HYL8

    Protein attributes for IPCEF1 Gene

    Size:
    437 amino acids
    Molecular mass:
    48993 Da
    Quaternary structure:
    • Interacts with guanine-nucleotide exchange factors PSCD1, PSCD2, PSCD3 and PSCD4 (By similarity). Interacts (via C-terminus) with cytohesin-2 CYTH2 (PubMed:22085542).

    Three dimensional structures from OCA and Proteopedia for IPCEF1 Gene

    Alternative splice isoforms for IPCEF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IPCEF1 Gene

Post-translational modifications for IPCEF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for IPCEF1 Gene

Domains & Families for IPCEF1 Gene

Gene Families for IPCEF1 Gene

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

Protein Domains for IPCEF1 Gene

InterPro:
Blocks:
  • Pleckstrin-like

Suggested Antigen Peptide Sequences for IPCEF1 Gene

GenScript: Design optimal peptide antigens:
  • Phosphoinositide-binding protein PIP3-E (ICEF1_HUMAN)
genes like me logo Genes that share domains with IPCEF1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for IPCEF1 Gene

Function for IPCEF1 Gene

Molecular function for IPCEF1 Gene

UniProtKB/Swiss-Prot Function:
Enhances the promotion of guanine-nucleotide exchange by PSCD2 on ARF6 in a concentration-dependent manner.

Phenotypes From GWAS Catalog for IPCEF1 Gene

Gene Ontology (GO) - Molecular Function for IPCEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004601 peroxidase activity ISS 11320098
GO:0005344 oxygen carrier activity NAS 11919282
GO:0005515 protein binding IPI 22085542
GO:0019904 protein domain specific binding IEA --
genes like me logo Genes that share ontologies with IPCEF1: view
genes like me logo Genes that share phenotypes with IPCEF1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IPCEF1

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for IPCEF1 Gene

Localization for IPCEF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IPCEF1 Gene

Cytoplasm. Cell membrane. Note=Translocated with PSCD2 to the plasma membrane upon epidermal growth factor (EGF) stimulation. {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 IPCEF1 gene
Compartment Confidence
plasma membrane 3
mitochondrion 2
nucleus 2
extracellular 1
cytoskeleton 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytoplasmic bodies (2)
  • Nuclear speckles (2)
  • Nucleoli (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IPCEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with IPCEF1: view

Pathways & Interactions for IPCEF1 Gene

PathCards logo

SuperPathways for IPCEF1 Gene

genes like me logo Genes that share pathways with IPCEF1: view

Pathways by source for IPCEF1 Gene

1 Sino Biological pathway for IPCEF1 Gene
1 BioSystems pathway for IPCEF1 Gene

Gene Ontology (GO) - Biological Process for IPCEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006979 response to oxidative stress ISS 11320098
GO:0015671 oxygen transport NAS 11919282
GO:0098869 cellular oxidant detoxification IEA --
genes like me logo Genes that share ontologies with IPCEF1: view

No data available for SIGNOR curated interactions for IPCEF1 Gene

Drugs & Compounds for IPCEF1 Gene

No Compound Related Data Available

Transcripts for IPCEF1 Gene

mRNA/cDNA for IPCEF1 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IPCEF1

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for IPCEF1 Gene

No ASD Table

Relevant External Links for IPCEF1 Gene

GeneLoc Exon Structure for
IPCEF1

Expression for IPCEF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IPCEF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IPCEF1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x7.5), Brain - Cortex (x4.8), Brain - Anterior cingulate cortex (BA24) (x4.7), and Brain - Cerebellar Hemisphere (x4.5).

Protein differential expression in normal tissues from HIPED for IPCEF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (22.4), CD8 Tcells (20.0), and Frontal cortex (13.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IPCEF1 Gene



Protein tissue co-expression partners for IPCEF1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IPCEF1

SOURCE GeneReport for Unigene cluster for IPCEF1 Gene:

Hs.146100

Evidence on tissue expression from TISSUES for IPCEF1 Gene

  • Nervous system(4.7)
  • Liver(4)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with IPCEF1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for IPCEF1 Gene

Orthologs for IPCEF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for IPCEF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia IPCEF1 29
  • 99.31 (n)
-- 30
  • 99 (a)
ManyToMany
CNKSR3 30
  • 2 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia IPCEF1 29
  • 84.84 (n)
-- 30
  • 80 (a)
ManyToMany
-- 30
  • 2 (a)
ManyToMany
Rat
(Rattus norvegicus)
Mammalia Ipcef1 29
  • 82.63 (n)
Mouse
(Mus musculus)
Mammalia Ipcef1 29 16 30
  • 81.89 (n)
ManyToMany
Cnksr3 30
  • 2 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 73 (a)
ManyToMany
-- 30
  • 2 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia -- 30
  • 36 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 2 (a)
OneToMany
Chicken
(Gallus gallus)
Aves IPCEF1 29
  • 69.07 (n)
-- 30
  • 60 (a)
ManyToMany
-- 30
  • 1 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 22 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii zgc:154018 30
  • 44 (a)
ManyToMany
zgc:172112 30
  • 2 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta cnk 30
  • 6 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea cnk-1 30
  • 5 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BOI1 32
Species where no ortholog for IPCEF1 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)
  • 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)
  • 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 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)

Evolution for IPCEF1 Gene

ENSEMBL:
Gene Tree for IPCEF1 (if available)
TreeFam:
Gene Tree for IPCEF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IPCEF1: view image
Alliance of Genome Resources:
Additional Orthologs for IPCEF1

Paralogs for IPCEF1 Gene

Paralogs for IPCEF1 Gene

(2) SIMAP similar genes for IPCEF1 Gene using alignment to 6 proteins:

  • ICEF1_HUMAN
  • E5RGB6_HUMAN
  • E5RGN6_HUMAN
  • E5RJQ7_HUMAN
  • E5RK08_HUMAN
  • G3V132_HUMAN
genes like me logo Genes that share paralogs with IPCEF1: view

Variants for IPCEF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IPCEF1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs1292131899 Drug Response: Tramadol response 154,246,823(-) C/T
NM_015553.2(IPCEF1):c.74-63G>A
THREE_PRIME_UTR_VARIANT,INTRON
rs1583898476 Drug Response: Tramadol response 154,246,511(-) T/C
NM_001008503.2(OPRM1):c.1165-182T>C
INTRON
rs1583898985 Drug Response: Tramadol response 154,246,692(-) G/A
NM_001008503.2(OPRM1):c.1165-1G>A
SPLICE_ACCEPTOR_VARIANT,SYNONYMOUS
rs1583899365 Drug Response: Tramadol response 154,246,824(-) C/T
NM_015553.2(IPCEF1):c.74-64G>A
THREE_PRIME_UTR_VARIANT,INTRON
rs1583899414 Drug Response: Tramadol response 154,246,833(-) G/T
NM_015553.2(IPCEF1):c.74-73C>A
THREE_PRIME_UTR_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for IPCEF1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for IPCEF1 Gene

Variant ID Type Subtype PubMed ID
dgv6165n100 CNV loss 25217958
esv1002780 CNV gain 20482838
esv21915 CNV gain+loss 19812545
esv2510969 CNV insertion 19546169
esv2665555 CNV deletion 23128226
esv2677305 CNV deletion 23128226
esv2732938 CNV deletion 23290073
esv2732939 CNV deletion 23290073
esv32616 CNV loss 17666407
esv3353056 CNV insertion 20981092
esv3540683 CNV deletion 23714750
esv3540684 CNV deletion 23714750
esv3611315 CNV loss 21293372
esv3611316 CNV loss 21293372
esv6100 OTHER inversion 19470904
nsv1109827 CNV deletion 24896259
nsv1140715 CNV deletion 24896259
nsv523401 CNV gain 19592680
nsv5550 CNV insertion 18451855
nsv604945 CNV loss 21841781
nsv819588 CNV gain 19587683
nsv821323 CNV deletion 20802225
nsv823877 CNV loss 20364138
nsv823878 CNV gain 20364138
nsv830847 CNV gain 17160897

Variation tolerance for IPCEF1 Gene

Residual Variation Intolerance Score: 40.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.54; 29.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IPCEF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IPCEF1
Leiden Open Variation Database (LOVD)
IPCEF1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IPCEF1 Gene

Disorders for IPCEF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for IPCEF1 Gene - From: COP

Disorder Aliases PubMed IDs
excessive tearing
  • epiphora
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for IPCEF1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with IPCEF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IPCEF1 Gene

Publications for IPCEF1 Gene

  1. Identification of ARAP3, a novel PI3K effector regulating both Arf and Rho GTPases, by selective capture on phosphoinositide affinity matrices. (PMID: 11804589) Krugmann S … Hawkins PT (Molecular cell 2002) 2 3 4
  2. CNK3 and IPCEF1 produce a single protein that is required for HGF dependent Arf6 activation and migration. (PMID: 22085542) Attar MA … Santy LC (Experimental cell research 2012) 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  4. 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 40
  5. Peripheral nerve injury up-regulates expression of interactor protein for cytohesin exchange factor 1 (IPCEF1) mRNA in rat dorsal root ganglion. (PMID: 19756519) Guan X … Tao YX (Naunyn-Schmiedeberg's archives of pharmacology 2009) 2 3

Products for IPCEF1 Gene

Sources for IPCEF1 Gene