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    OCEL1 occludin/ELL domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 79629, updated on 9-Dec-2024

    Summary

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    Official Symbol
    OCEL1provided by HGNC
    Official Full Name
    occludin/ELL domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:26221
    See related
    Ensembl:ENSG00000099330 AllianceGenome:HGNC:26221
    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
    FWP009; S863-9
    Summary
    Predicted to be involved in bicellular tight junction assembly. Predicted to be located in membrane. Predicted to be active in apical plasma membrane; bicellular tight junction; and cytoplasmic vesicle. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 11.9), colon (RPKM 9.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See OCEL1 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17226226..17229219)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17361088..17364108)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17337035..17340028)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene myosin IXB Neighboring gene small nucleolar RNA, H/ACA box 118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14255 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17221215-17221716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17227113-17227612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14258 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17241751-17242749 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17245192-17245801 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17245802-17246410 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17246411-17247020 Neighboring gene Sharpr-MPRA regulatory region 10590 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17260531-17261223 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:17263413-17264160 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17269991-17270808 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17270809-17271626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17271627-17272442 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:17288573-17288756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17291382-17291974 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:17291975-17292566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10321 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17321117-17321622 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:17325806-17326386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17336955-17337629 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17337630-17338303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10327 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10328 Neighboring gene unconventional SNARE in the ER 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:17350064-17350242 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10329 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10330 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17356712-17357661 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17358611-17359560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17359561-17360509 Neighboring gene nuclear receptor subfamily 2 group F member 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17372219-17372820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17373027-17373584 Neighboring gene USH1 protein network component harmonin binding protein 1

    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. Low OCEL1 expression is associated with poor prognosis in human non-small cell lung cancer. Deng M, et al. Cancer Biomark, 2020. PMID 32083572
    2. Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients. Wong BK, et al. Mol Genet Genomic Med, 2017 Mar. PMID 28361097, Free PMC Article
    3. Protein array based interactome analysis of amyloid-β indicates an inhibition of protein translation. Virok DP, et al. J Proteome Res, 2011 Apr 1. PMID 21244100
    4. The protein interaction landscape of the human CMGC kinase group. Varjosalo M, et al. Cell Rep, 2013 Apr 25. PMID 23602568
    5. Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. Antoniali G, et al. Nat Commun, 2017 Oct 6. PMID 28986522, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Low OCEL1 expression is associated with poor prognosis in human non-small cell lung cancer.
      Title: Low OCEL1 expression is associated with poor prognosis in human non-small cell lung cancer.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22709

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in bicellular tight junction assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in bicellular tight junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    occludin/ELL domain-containing protein 1

    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_024578.3 → NP_078854.1  occludin/ELL domain-containing protein 1

      See identical proteins and their annotated locations for NP_078854.1

      Status: VALIDATED

      Source sequence(s)
      AK026362, BC029361
      Consensus CDS
      CCDS12351.1
      UniProtKB/Swiss-Prot
      Q9H607
      UniProtKB/TrEMBL
      M0QXM2
      Related
      ENSP00000215061.3, ENST00000215061.9
      Conserved Domains (1) summary
      pfam07303
      Location:156 → 253
      Occludin_ELL; Occludin homology 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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      17226226..17229219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722899.5 → XP_006722962.1  occludin/ELL domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      M0QXM2
      Related
      ENSP00000469261.1, ENST00000600232.5
      Conserved Domains (1) summary
      pfam07303
      Location:156 → 226
      Occludin_ELL; Occludin homology domain

    2. XM_047439441.1 → XP_047295397.1  occludin/ELL domain-containing protein 1 isoform X3

      Related
      ENST00000602236.5

    3. XM_047439442.1 → XP_047295398.1  occludin/ELL domain-containing protein 1 isoform X4

      UniProtKB/TrEMBL
      M0R0F7
      Related
      ENSP00000471201.1, ENST00000601529.5

    4. XM_047439440.1 → XP_047295396.1  occludin/ELL domain-containing protein 1 isoform X2

      Related
      ENST00000601576.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      17361088..17364108
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322156.1 → XP_054178131.1  occludin/ELL domain-containing protein 1 isoform X3

    2. XM_054322155.1 → XP_054178130.1  occludin/ELL domain-containing protein 1 isoform X2

    3. XM_054322154.1 → XP_054178129.1  occludin/ELL domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      M0QXM2

    4. XM_054322157.1 → XP_054178132.1  occludin/ELL domain-containing protein 1 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H607.1 GenPept UniProtKB/Swiss-Prot:Q9H607

    Gene LinkOut

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

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