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    IPCEF1 interaction protein for cytohesin exchange factors 1 [ Homo sapiens (human) ]

    Gene ID: 26034, updated on 9-Dec-2024

    Summary

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    Official Symbol
    IPCEF1provided by HGNC
    Official Full Name
    interaction protein for cytohesin exchange factors 1provided by HGNC
    Primary source
    HGNC:HGNC:21204
    See related
    Ensembl:ENSG00000074706 MIM:619948; AllianceGenome:HGNC:21204
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PIP3E; PIP3-E
    Summary
    Predicted to enable peroxidase activity. Predicted to be involved in response to oxidative stress. Predicted to be located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in thyroid (RPKM 13.5), brain (RPKM 6.8) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IPCEF1 in Genome Data Viewer
    Location:
    6q25.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (154154496..154356803, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (155356475..155558805, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (154475631..154677937, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 896, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:154152732-154153497 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:154165602-154166102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:154182024-154182524 Neighboring gene high mobility group box 3 pseudogene 19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:154360635-154361134 Neighboring gene opioid receptor mu 1 Neighboring gene MPRA-validated peak6225 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25295 Neighboring gene ribosomal protein L17 pseudogene 24 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25296 Neighboring gene MPRA-validated peak6226 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:154663434-154664366 Neighboring gene uncharacterized LOC105378067 Neighboring gene CNKSR family member 3 Neighboring gene Sharpr-MPRA regulatory region 5073 Neighboring gene MPRA-validated peak6228 silencer

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Circular RNA profiling reveals a potential role of hsa_circ_IPCEF1 in papillary thyroid carcinoma. Guo M, et al. Mol Med Rep, 2021 Aug. PMID 34165176, Free PMC Article
    2. Peripheral nerve injury up-regulates expression of interactor protein for cytohesin exchange factor 1 (IPCEF1) mRNA in rat dorsal root ganglion. Guan X, et al. Naunyn Schmiedebergs Arch Pharmacol, 2009 Nov. PMID 19756519, Free PMC Article
    3. [Expression of tumor suppressor gene PTEN, PIP3 and cyclin D1 in oral squamous cell carcinoma and their correlations]. Xie SM, et al. Zhonghua Kou Qiang Yi Xue Za Zhi, 2006 Jul. PMID 17067457
    4. Characterization of a stellate cell activation-associated protein (STAP) with peroxidase activity found in rat hepatic stellate cells. Kawada N, et al. J Biol Chem, 2001 Jul 6. PMID 11320098
    5. Cytoglobin: a novel globin type ubiquitously expressed in vertebrate tissues. Burmester T, et al. Mol Biol Evol, 2002 Apr. PMID 11919282

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Circular RNA profiling reveals a potential role of hsa_circ_IPCEF1 in papillary thyroid carcinoma.
      Title: Circular RNA profiling reveals a potential role of hsa_circ_IPCEF1 in papillary thyroid carcinoma.
    2. CNK3 and IPCEF1 produce a single protein that is required for HGF dependent Arf6 activation and migration.
      Title: CNK3 and IPCEF1 produce a single protein that is required for HGF dependent Arf6 activation and migration.
    3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    5. protein-protein interaction mediated by ARNO coiled-coil domain required for ARNO induced motility; coiled-coil domain promotes assembly of multiprotein complex containing ARNO and Dock180; assembly of complex requires coiled-coil domain, GRASP and IPCEF
      Title: GRASP and IPCEF promote ARF-to-Rac signaling and cell migration by coordinating the association of ARNO/cytohesin 2 with Dock180.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. PTEN may down-regulate the expression of PIP3, and then down-regulate the expression of cyclin D1, which leads to the suppression of cell growth.
      Title: [Expression of tumor suppressor gene PTEN, PIP3 and cyclin D1 in oral squamous cell carcinoma and their correlations].
    8. IPCEF1 increases the in vitro and in vivo stimulation of ARFGTP formation by cytohesin 2
      Title: Interaction protein for cytohesin exchange factors 1 (IPCEF1) binds cytohesin 2 and modifies its activity.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: CNKSR1

    Homology

    Clone Names

    • KIAA0403

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables oxygen carrier activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables peroxidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular oxidant detoxification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in oxygen transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in response to oxidative stress ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    interactor protein for cytohesin exchange factors 1
    Names
    interaction protein for cytohesin exchange factors 1 Interaction protein for cytohesin exchange factors 1
    phosphoinositide-binding protein PIP3-E

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001130699.2 → NP_001124171.1  interactor protein for cytohesin exchange factors 1 isoform 1

      See identical proteins and their annotated locations for NP_001124171.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1, 2, and 4-6 all encode the same isoform (1).
      Source sequence(s)
      AB007863, BU075081, BX647254
      Consensus CDS
      CCDS47509.1
      UniProtKB/TrEMBL
      A0A2Q2T6B6
      Related
      ENSP00000394751.2, ENST00000422970.6
      Conserved Domains (1) summary
      cd01260
      Location:31 → 144
      PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain

    2. NM_001130700.2 → NP_001124172.1  interactor protein for cytohesin exchange factors 1 isoform 1

      See identical proteins and their annotated locations for NP_001124172.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR, as compared to variant 1. Variants 1, 2, and 4-6 all encode the same isoform (1).
      Source sequence(s)
      AB007863, AJ310566, AK289917, AL033376, BU075081, BX647254
      Consensus CDS
      CCDS47509.1
      UniProtKB/TrEMBL
      A0A2Q2T6B6
      Related
      ENSP00000356189.4, ENST00000367220.9
      Conserved Domains (1) summary
      cd01260
      Location:31 → 144
      PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain

    3. NM_001394799.1 → NP_001381728.1  interactor protein for cytohesin exchange factors 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL033376, AL132774, AL445220
      Consensus CDS
      CCDS47509.1
      UniProtKB/TrEMBL
      A0A2Q2T6B6
      Conserved Domains (1) summary
      cd01260
      Location:31 → 144
      PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain

    4. NM_001394800.1 → NP_001381729.1  interactor protein for cytohesin exchange factors 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL033376, AL132774, AL445220
      Consensus CDS
      CCDS47509.1
      UniProtKB/TrEMBL
      A0A2Q2T6B6
      Conserved Domains (1) summary
      cd01260
      Location:31 → 144
      PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain

    5. NM_001394801.1 → NP_001381730.1  interactor protein for cytohesin exchange factors 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL033376, AL132774, AL445220
      Consensus CDS
      CCDS47509.1
      UniProtKB/TrEMBL
      A0A2Q2T6B6
      Conserved Domains (1) summary
      cd01260
      Location:31 → 144
      PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain

    6. NM_001394802.1 → NP_001381731.1  interactor protein for cytohesin exchange factors 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL033376, AL132774, AL445220
      Consensus CDS
      CCDS5245.1
      UniProtKB/Swiss-Prot
      A8K1K2, B7ZL78, B7ZL80, G3V132, O43153, Q5HYL8, Q8WWN9
      UniProtKB/TrEMBL
      A0A2Q2T6B6
      Related
      ENSP00000430287.1, ENST00000519344.5
      Conserved Domains (1) summary
      cd01260
      Location:30 → 143
      PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain

    7. NM_015553.3 → NP_056368.1  interactor protein for cytohesin exchange factors 1 isoform 2

      See identical proteins and their annotated locations for NP_056368.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate 5' UTR and has an alternate splice site in the 5' coding region, as compared to variant 1. The resulting isoform (2) is one amino acid shorter than isoform 1. Variants 3 and 7 both encode the same isoform (2).
      Source sequence(s)
      AB007863, AJ310566, AL033376, BC105043, BU075081, BX647254
      Consensus CDS
      CCDS5245.1
      UniProtKB/Swiss-Prot
      A8K1K2, B7ZL78, B7ZL80, G3V132, O43153, Q5HYL8, Q8WWN9
      UniProtKB/TrEMBL
      A0A2Q2T6B6
      Related
      ENSP00000265198.4, ENST00000265198.8
      Conserved Domains (1) summary
      cd01260
      Location:30 → 143
      PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      154154496..154356803 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      155356475..155558805 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WWN9.1 GenPept UniProtKB/Swiss-Prot:Q8WWN9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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