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

Gene ID: 79629, updated on 3-Apr-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 11.9), colon (RPKM 9.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
19p13.11
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17226226..17229219)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17361088..17364108)
105.20220307 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)

Genotypes

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_2023_10

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

  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

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