Free for academic non-profit institutions. Other users need a Commercial license

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
  • GC19P019312

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

GeneHancer (GH) Regulatory Elements for OCEL1 Gene

Promoters and enhancers for OCEL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I017225 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 597.4 +0.6 609 2.8 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 POLR2B ZNF766 OCEL1 MVB12A PGLS ENSG00000269578 ENSG00000268087 COLGALT1 USE1 ANKLE1 GC19M017243
GH19I017224 Enhancer 0.4 Ensembl 570.2 -1.5 -1503 0.2 ZBTB33 PRDM10 OCEL1 USE1
GH19I017239 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 14.7 +18.8 18812 10.4 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 NR2F6 GC19M017243 CHERP ENSG00000267904 MVB12A GTPBP3 C19orf44 ENSG00000268087 OCEL1 ENSG00000268743
GH19I017214 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 15.3 -10.7 -10687 2.2 HDGF PKNOX1 CLOCK MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 USE1 OCEL1 MVB12A PGLS ENSG00000269578 ENSG00000268087 COLGALT1 IL12RB1 MYO9B
GH19I017307 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 13 +84.5 84524 5.6 HDGF PKNOX1 FOXA2 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 IRF4 YY1 ABHD8 DDA1 CHERP MRPL34 C19orf44 ENSG00000268743 SIN3B ENSG00000269427 ENSG00000269044 ENSG00000267904
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around OCEL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OCEL1 gene promoter:

Genomic Locations for OCEL1 Gene

Genomic Locations for OCEL1 Gene
chr19:17,226,204-17,229,219
(GRCh38/hg38)
Size:
3,016 bases
Orientation:
Plus strand
chr19:17,337,013-17,340,028
(GRCh37/hg19)

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:
    Q9H607-OCEL1_HUMAN
    Recommended name:
    Occludin/ELL domain-containing protein 1
    Protein Accession:
    Q9H607

    Protein attributes for OCEL1 Gene

    Size:
    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

Q9H607

UniProtKB/Swiss-Prot:

OCEL1_HUMAN :
  • Belongs to the ELL/occludin family.
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

COMPARTMENTS
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

None

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: - -
SP8:
SP9: - - - -
SP10:

Relevant External Links for OCEL1 Gene

GeneLoc Exon Structure for
OCEL1
ECgene alternative splicing isoforms for
OCEL1

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:

OCEL1

SOURCE GeneReport for Unigene cluster for OCEL1 Gene:

Hs.422676
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
chimpanzee
(Pan troglodytes)
Mammalia OCEL1 33 34
  • 99.49 (n)
cow
(Bos Taurus)
Mammalia OCEL1 33
  • 84.47 (n)
-- 34
  • 79 (a)
OneToMany
-- 34
  • 74 (a)
OneToMany
dog
(Canis familiaris)
Mammalia OCEL1 33 34
  • 81.2 (n)
mouse
(Mus musculus)
Mammalia Ocel1 33 16 34
  • 76.42 (n)
rat
(Rattus norvegicus)
Mammalia Ocel1 33
  • 75.7 (n)
oppossum
(Monodelphis domestica)
Mammalia OCEL1 34
  • 34 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 8 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii si:dkey-208k22.6 34
  • 12 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Su(Tpl) 34
  • 5 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1855 34
  • 13 (a)
OneToMany
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

ENSEMBL:
Gene Tree for OCEL1 (if available)
TreeFam:
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 Variation AA Info Type
rs1000020814 -- 17,224,937(+) G/C upstream_transcript_variant
rs1000584507 -- 17,226,526(+) G/A intron_variant
rs1001372831 -- 17,227,208(+) C/T intron_variant
rs1002827638 -- 17,226,468(+) C/A/T intron_variant
rs1003159250 -- 17,225,442(+) T/C upstream_transcript_variant

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)
OCEL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OCEL1

SNP Genotyping and Copy Number Assay Products

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

Disorders for OCEL1 Gene

Additional Disease Information for OCEL1

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 58
  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 58
  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 58
  4. The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M … Gstaiger M (Cell reports 2013) 3 58
  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 58

Products for OCEL1 Gene

Sources for OCEL1 Gene

Content
Loading form....