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    ENTREP3 endosomal transmembrane epsin interactor 3 [ Homo sapiens (human) ]

    Gene ID: 10712, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ENTREP3provided by HGNC
    Official Full Name
    endosomal transmembrane epsin interactor 3provided by HGNC
    Primary source
    HGNC:HGNC:1233
    See related
    Ensembl:ENSG00000160767 MIM:619447; AllianceGenome:HGNC:1233
    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
    COTE1; C1orf2; FAM189B
    Summary
    This gene is located near the gene for the lysosomal enzyme glucosylceramidase; a deficiency in this enzyme is associated with Gaucher disease. The encoded protein has been identified as a potential binding partner of a WW domain-containing protein which is involved in apoptosis and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
    Expression
    Ubiquitous expression in fat (RPKM 4.9), testis (RPKM 4.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ENTREP3 in Genome Data Viewer
    Location:
    1q22
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155247205..155255483, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154385763..154394041, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155216996..155225274, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene GBA recombination region Neighboring gene metaxin 1 like, pseudogene Neighboring gene glucosylceramidase beta 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:155213585-155214548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:155219706-155220308 Neighboring gene secretory carrier membrane protein 3 Neighboring gene CDC like kinase 2

    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. High FAM189B Expression and Its Prognostic Value in Patients with Gastric Cancer. Wu CL, et al. Biomed Res Int, 2021. PMID 34124264, Free PMC Article
    2. Upregulation of the putative oncogene COTE1 contributes to human hepatocarcinogenesis through modulation of WWOX signaling. Zhang H, et al. Int J Oncol, 2014 Aug. PMID 24899407
    3. Ectopic overexpression of COTE1 promotes cellular invasion of hepatocellular carcinoma. Zhang H, et al. Asian Pac J Cancer Prev, 2012. PMID 23317259
    4. SREBP-1 regulates the expression of heme oxygenase 1 and the phosphatidylinositol-3 kinase regulatory subunit p55 gamma. Kallin A, et al. J Lipid Res, 2007 Jul. PMID 17452746
    5. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. Winfield SL, et al. Genome Res, 1997 Oct. PMID 9331372, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. COTE1 Facilitates Intrahepatic Cholangiocarcinoma Progression via Beclin1-Dependent Autophagy Inhibition.
      Title: COTE1 Facilitates Intrahepatic Cholangiocarcinoma Progression via Beclin1-Dependent Autophagy Inhibition.
    2. COTE-1 promotes the proliferation and invasion of small cell lung cancer by regulating autophagy activity via the AMPK/mTOR signaling pathway.
      Title: COTE-1 promotes the proliferation and invasion of small cell lung cancer by regulating autophagy activity via the AMPK/mTOR signaling pathway.
    3. High FAM189B Expression and Its Prognostic Value in Patients with Gastric Cancer.
      Title: High FAM189B Expression and Its Prognostic Value in Patients with Gastric Cancer.
    4. our findings suggest that the cytoplasmic protein COTE1 contributes to hepatocellular carcinoma tumorigenesis by regulating cell proliferation through the modulation of WWOX signaling
      Title: Upregulation of the putative oncogene COTE1 contributes to human hepatocarcinogenesis through modulation of WWOX signaling.
    5. Overexpression of COTE1 promotes cellular invasion of hepatocellular carcinoma.
      Title: Ectopic overexpression of COTE1 promotes cellular invasion of hepatocellular carcinoma.
    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables WW domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein ENTREP3
    Names
    family with sequence similarity 189 member B
    protein FAM189B

    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_001267608.2 → NP_001254537.1  protein ENTREP3 isoform c

      See identical proteins and their annotated locations for NP_001254537.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform c which is shorter than isoform 1.
      Source sequence(s)
      AF070550, AL713999, BC033707
      Consensus CDS
      CCDS58035.1
      UniProtKB/Swiss-Prot
      P81408
      UniProtKB/TrEMBL
      Q9Y6J7
      Related
      ENSP00000357352.3, ENST00000368368.7
      Conserved Domains (1) summary
      pfam04103
      Location:36 → 177
      CD20; CD20-like family

    2. NM_006589.3 → NP_006580.2  protein ENTREP3 isoform a

      See identical proteins and their annotated locations for NP_006580.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform a).
      Source sequence(s)
      AK093335, BC006493, BC040136
      Consensus CDS
      CCDS1103.1
      UniProtKB/Swiss-Prot
      B1AVS5, P81408, Q8IXL3, Q9BR66
      Related
      ENSP00000354958.2, ENST00000361361.7
      Conserved Domains (1) summary
      pfam04103
      Location:36 → 196
      CD20; CD20-like family

    3. NM_198264.2 → NP_937995.1  protein ENTREP3 isoform b

      See identical proteins and their annotated locations for NP_937995.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame portion of the 5' coding region compared to variant 1. The resulting protein (isoform b) is shorter than isoform a.
      Source sequence(s)
      AK093335, BC040136
      Consensus CDS
      CCDS1104.1
      UniProtKB/Swiss-Prot
      P81408
      Related
      ENSP00000307128.4, ENST00000350210.6
      Conserved Domains (1) summary
      pfam04103
      Location:36 → 101
      CD20; CD20-like family

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      155247205..155255483 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438744.1 → XP_047294700.1  protein ENTREP3 isoform X2

    2. XM_005244845.3 → XP_005244902.1  protein ENTREP3 isoform X1

      See identical proteins and their annotated locations for XP_005244902.1

      UniProtKB/Swiss-Prot
      P81408
      Conserved Domains (1) summary
      pfam04103
      Location:36 → 196
      CD20; CD20-like family

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315906.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      52228..60506 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329469.1 → XP_054185444.1  protein ENTREP3 isoform X2

    2. XM_054329468.1 → XP_054185443.1  protein ENTREP3 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      154385763..154394041 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333908.1 → XP_054189883.1  protein ENTREP3 isoform X2

    2. XM_054333907.1 → XP_054189882.1  protein ENTREP3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P81408.2 GenPept UniProtKB/Swiss-Prot:P81408

    Gene LinkOut

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

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