Aliases for OCEL1 Gene

Aliases for OCEL1 Gene

  • Occludin/ELL Domain Containing 1 2 3 5
  • Occludin/ELL Domain-Containing Protein 1 3 4
  • FWP009 3
  • S863-9 3

External Ids for OCEL1 Gene

Previous GeneCards Identifiers for OCEL1 Gene

  • GC19P017201
  • GC19P017337
  • GC19P016904
  • GC19P017289
  • GC19P017685
  • GC19P020464
  • GC19P020605
  • GC19P020715
  • GC19P017711
  • GC19P018281
  • GC19P018684
  • GC19P018988
  • GC19P019312
  • GC19P019647
  • GC19P020004
  • GC19P020320

Summaries for OCEL1 Gene

GeneCards Summary for OCEL1 Gene

OCEL1 (Occludin/ELL Domain Containing 1) is a Protein Coding gene. Diseases associated with OCEL1 include Aicardi Syndrome. 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OCEL1 Gene

Genomics for OCEL1 Gene

GeneHancer (GH) Regulatory Elements for OCEL1 Gene

Promoters and enhancers for OCEL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OCEL1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OCEL1

Top Transcription factor binding sites by QIAGEN in the OCEL1 gene promoter:
  • AhR
  • Arnt
  • MyoD
  • Nkx2-5
  • NRSF form 1
  • NRSF form 2
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2

Genomic Locations for OCEL1 Gene

Genomic Locations for OCEL1 Gene
3,016 bases
Plus strand
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

  • Occludin and RNA polymerase II elongation factor ELL

Suggested Antigen Peptide Sequences for OCEL1 Gene

GenScript: Design optimal peptide antigens:
  • Occludin/ELL domain-containing protein 1 (OCEL1_HUMAN)
  • OCEL1 protein (Q6PKA4_HUMAN)

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

CRISPR 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
golgi apparatus 2
cytosol 1

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

PathCards logo

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

mRNA/cDNA for OCEL1 Gene

5 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for OCEL1 Gene

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

Protein tissue co-expression partners for OCEL1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OCEL1

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 31 30
  • 99.49 (n)
(Bos Taurus)
Mammalia OCEL1 30
  • 84.47 (n)
-- 31
  • 79 (a)
-- 31
  • 74 (a)
(Canis familiaris)
Mammalia OCEL1 31 30
  • 81.2 (n)
(Mus musculus)
Mammalia Ocel1 17 31 30
  • 76.42 (n)
(Rattus norvegicus)
Mammalia Ocel1 30
  • 75.7 (n)
(Monodelphis domestica)
Mammalia OCEL1 31
  • 34 (a)
(Gallus gallus)
Aves -- 31
  • 8 (a)
(Danio rerio)
Actinopterygii si:dkey-208k22.6 31
  • 12 (a)
fruit fly
(Drosophila melanogaster)
Insecta Su(Tpl) 31
  • 5 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1855 31
  • 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)
Evolutionary constrained regions (ECRs) for OCEL1: view image

Paralogs for OCEL1 Gene

Paralogs for OCEL1 Gene

(20) SIMAP similar genes for OCEL1 Gene using alignment to 10 proteins:

  • M0QY63_HUMAN
  • M0QZ32_HUMAN
  • M0QZ36_HUMAN
  • M0R0F7_HUMAN
  • M0R0L3_HUMAN
  • M0R1A4_HUMAN
genes like me logo Genes that share paralogs with OCEL1: view

Variants for OCEL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OCEL1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
708618 Benign: not provided 17,226,850(+) C/G MISSENSE_VARIANT
708619 Benign: not provided 17,228,261(+) G/A SYNONYMOUS_VARIANT
717086 Benign: not provided 17,226,993(+) G/A SPLICE_ACCEPTOR_VARIANT
720779 Benign: not provided 17,227,993(+) A/C SYNONYMOUS_VARIANT
727150 Benign: not provided 17,226,854(+) T/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for OCEL1 Gene

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

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

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)

Additional Variant Information for OCEL1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for OCEL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for OCEL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
aicardi syndrome
  • aic
- elite association - COSMIC cancer census association via MalaCards
Search OCEL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OCEL1

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

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

Publications for OCEL1 Gene

  1. 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 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  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 54
  4. The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M … Gstaiger M (Cell reports 2013) 3 54
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3 54

Products for OCEL1 Gene

Sources for OCEL1 Gene