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Aliases for OCEL1 Gene

Aliases for OCEL1 Gene

  • Occludin/ELL Domain Containing 1 2 3 5
  • Occludin/ELL Domain-Containing Protein 1 3
  • FWP009 3
  • S863-9 3

External Ids for OCEL1 Gene

Previous GeneCards Identifiers for OCEL1 Gene

  • GC19P017201
  • GC19P017337
  • GC19P016904
  • GC19P017289
  • GC19P017685
  • GC19P017711
  • GC19P018281
  • GC19P018684
  • GC19P018988

Summaries for OCEL1 Gene

GeneCards Summary for OCEL1 Gene

OCEL1 (Occludin/ELL Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is MARVELD2.

Additional gene information for OCEL1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OCEL1 Gene

Genomics for OCEL1 Gene

Regulatory Elements for OCEL1 Gene

Enhancers for OCEL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H017225 1.4 ENCODE dbSUPER 47.4 +0.6 610 2.8 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766 ZNF207 OCEL1 MVB12A PGLS ENSG00000269578 ENSG00000268087 COLGALT1 USE1 ANKLE1 GC19M017243
GH19H017219 1.4 Ensembl ENCODE dbSUPER 20.2 -5.9 -5946 1.4 ATF1 NFRKB RARA FOS ATF7 CREM PPARG HDAC8 ZNF592 SMARCA4 OCEL1 NR2F6 USE1
GH19H017261 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.4 +34.7 34716 0.9 HDGF ATF1 MLX ARNT ARID4B ZNF2 ZNF143 DEK SP3 SP5 ENSG00000268743 ENSG00000267904 CHERP C19orf44 ENSG00000269578 MVB12A OCEL1 HAUS8 ENSG00000268087 COLGALT1
GH19H017234 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12 +9.7 9654 3.2 HDGF ATF1 SIN3A ZNF2 YY1 ZNF766 GLIS2 ZNF143 ZNF207 ATF7 OCEL1 NR2F6 MVB12A BST2 GTPBP3 GC19M017243
GH19H017239 1.4 ENCODE dbSUPER 14.7 +18.8 18813 10.4 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 CHERP ENSG00000267904 C19orf44 ENSG00000268743 MVB12A ENSG00000269578 GTPBP3 NR2F6 ENSG00000268087 OCEL1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OCEL1 on UCSC Golden Path with GeneCards custom track

Promoters for OCEL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000107860 196 1601 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766 ZNF143

Genomic Locations for OCEL1 Gene

Genomic Locations for OCEL1 Gene
3,016 bases
Plus strand

Genomic View for OCEL1 Gene

Genes around OCEL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OCEL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OCEL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OCEL1 Gene

Proteins for OCEL1 Gene

  • Protein details for OCEL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Occludin/ELL domain-containing protein 1
    Protein Accession:

    Protein attributes for OCEL1 Gene

    264 amino acids
    Molecular mass:
    29404 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OCEL1 Gene

Post-translational modifications for OCEL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for OCEL1 Gene

Domains & Families for OCEL1 Gene

Gene Families for OCEL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for OCEL1 Gene

Suggested Antigen Peptide Sequences for OCEL1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ELL/occludin family.
  • Belongs to the ELL/occludin family.
genes like me logo Genes that share domains with OCEL1: view

Function for OCEL1 Gene

Phenotypes From GWAS Catalog for OCEL1 Gene

genes like me logo Genes that share phenotypes with OCEL1: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OCEL1 Gene

Localization for OCEL1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OCEL1 gene
Compartment Confidence
nucleus 3
cytosol 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OCEL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OCEL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for OCEL1 Gene

Pathways & Interactions for OCEL1 Gene

SuperPathways for OCEL1 Gene

No Data Available

Interacting Proteins for OCEL1 Gene

Gene Ontology (GO) - Biological Process for OCEL1 Gene


No data available for Pathways by source and SIGNOR curated interactions for OCEL1 Gene

Drugs & Compounds for OCEL1 Gene

No Compound Related Data Available

Transcripts for OCEL1 Gene

Unigene Clusters for OCEL1 Gene

Occludin/ELL domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for OCEL1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c
SP1: - - - -
SP2: - - - - - -
SP3: -
SP4: - -
SP5: -
SP6: - -
SP7: - -
SP9: - - - -

Relevant External Links for OCEL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for OCEL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OCEL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for OCEL1 Gene

This gene is overexpressed in Neutrophil (39.7), Blymphocyte (22.0), and Tlymphocyte (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for OCEL1 Gene

Protein tissue co-expression partners for OCEL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of OCEL1 Gene:


SOURCE GeneReport for Unigene cluster for OCEL1 Gene:

genes like me logo Genes that share expression patterns with OCEL1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for OCEL1 Gene

Orthologs for OCEL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for OCEL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia OCEL1 33 34
  • 99.49 (n)
(Bos Taurus)
Mammalia OCEL1 33
  • 84.47 (n)
-- 34
  • 79 (a)
-- 34
  • 74 (a)
(Canis familiaris)
Mammalia OCEL1 33 34
  • 81.2 (n)
(Mus musculus)
Mammalia Ocel1 33 16 34
  • 76.42 (n)
(Rattus norvegicus)
Mammalia Ocel1 33
  • 75.7 (n)
(Monodelphis domestica)
Mammalia OCEL1 34
  • 34 (a)
(Gallus gallus)
Aves -- 34
  • 8 (a)
(Danio rerio)
Actinopterygii si:dkey-208k22.6 34
  • 12 (a)
fruit fly
(Drosophila melanogaster)
Insecta Su(Tpl) 34
  • 5 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1855 34
  • 13 (a)
Species where no ortholog for OCEL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OCEL1 Gene

Gene Tree for OCEL1 (if available)
Gene Tree for OCEL1 (if available)

Paralogs for OCEL1 Gene

Variants for OCEL1 Gene

Sequence variations from dbSNP and Humsavar for OCEL1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000020814 -- 17,224,937(+) GTGAG(C/G)GAATC upstream-variant-2KB
rs1000584507 -- 17,226,526(+) GCGGG(A/G)TCTGG intron-variant
rs1001372831 -- 17,227,208(+) AGTGT(C/T)CCCCA intron-variant
rs1002827638 -- 17,226,468(+) CTGCG(A/C)GGCGA intron-variant
rs1003159250 -- 17,225,442(+) CAGCC(C/T)CTCTC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for OCEL1 Gene

Variant ID Type Subtype PubMed ID
nsv828469 CNV loss 20364138
nsv578739 CNV loss 21841781
nsv470129 CNV loss 18288195
nsv458373 CNV loss 19166990

Variation tolerance for OCEL1 Gene

Residual Variation Intolerance Score: 93.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.53; 82.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OCEL1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OCEL1 Gene

Disorders for OCEL1 Gene

Relevant External Links for OCEL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for OCEL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for OCEL1 Gene

Publications for OCEL1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 60
  4. The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M … Gstaiger M (Cell reports 2013) 3 60
  5. Protein array based interactome analysis of amyloid-β indicates an inhibition of protein translation. (PMID: 21244100) Virok DP … Fülöp L (Journal of proteome research 2011) 3 60

Products for OCEL1 Gene

Sources for OCEL1 Gene

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