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

Gene ID: 26034, updated on 5-Mar-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 cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in thyroid (RPKM 13.5), brain (RPKM 6.8) and 9 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (154154496..154356803, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (155356475..155558805, complement)
105.20220307 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. CNK3 and IPCEF1 produce a single protein that is required for HGF dependent Arf6 activation and migration. Attar MA, et al. Exp Cell Res, 2012 Feb 1. PMID 22085542

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)

Genotypes

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_2023_10

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

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