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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

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.

No data available for Entrez Gene 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
GH19F017225 1.2 ENCODE 47.4 +0.6 610 2.8 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 OCEL1 ENSG00000269578 MVB12A PLVAP C19orf44 ENSG00000268087 COLGALT1 SMIM7 PGLS F2RL3
GH19F017219 1.1 Ensembl ENCODE 20.1 -5.9 -5946 1.4 NFRKB RARA FOS CREM ZNF263 REST PPARG SMARCA4 ZNF341 KDM1A OCEL1 NR2F6 USE1
GH19F017260 1.6 FANTOM5 Ensembl ENCODE 12.4 +34.7 34733 0.9 HDGF ATF1 ARNT CREB3L1 MLX ARID4B ZNF48 ZNF2 ZNF143 DEK ENSG00000269578 MVB12A OCEL1 ENSG00000268087 COLGALT1 PLVAP ENSG00000267904 ENSG00000268743 BABAM1 GTPBP3
GH19F017234 1.6 FANTOM5 Ensembl ENCODE 12 +9.7 9654 3.2 HDGF ATF1 PKNOX1 ARNT CREB3L1 SIN3A ZNF2 YY1 ZNF121 GLIS2 OCEL1 NR2F6 MVB12A BST2 GTPBP3 GC19M017243
GH19F017307 1.4 Ensembl ENCODE 13 +84.5 84524 5.6 HDGF PKNOX1 ARNT MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 MRPL34 MVB12A ENSG00000269578 ABHD8 PLVAP OCEL1 MED26 ENSG00000268087 ENSG00000267904 COLGALT1
- 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
ENSR00001014838 296 1801 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21

Genomic Location for OCEL1 Gene

Chromosome:
19
Start:
17,226,204 bp from pter
End:
17,229,219 bp from pter
Size:
3,016 bases
Orientation:
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:
    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

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

No data available for Gene Families for OCEL1 Gene

Function for OCEL1 Gene

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

Animal Model Products

Inhibitory RNA Products

Flow Cytometry 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

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

Transcripts for OCEL1 Gene

Unigene Clusters for OCEL1 Gene

Occludin/ELL domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.49 (n)
cow
(Bos Taurus)
Mammalia OCEL1 34
  • 84.47 (n)
-- 35
  • 79 (a)
OneToMany
-- 35
  • 74 (a)
OneToMany
dog
(Canis familiaris)
Mammalia OCEL1 34 35
  • 81.2 (n)
mouse
(Mus musculus)
Mammalia Ocel1 34 16 35
  • 76.42 (n)
rat
(Rattus norvegicus)
Mammalia Ocel1 34
  • 75.7 (n)
oppossum
(Monodelphis domestica)
Mammalia OCEL1 35
  • 34 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 8 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii si:dkey-208k22.6 35
  • 12 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Su(Tpl) 35
  • 5 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1855 35
  • 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 Sequence Context AA Info Type
rs10409527 -- 17,228,216(+) GAATT(C/G)AACTC intron-variant
rs10414777 -- 17,225,488(+) GATTT(G/T)GGGCA upstream-variant-2KB
rs10415119 -- 17,228,416(+) AATCT(C/T)GCTCT intron-variant
rs10424828 -- 17,226,472(+) GCGGC(A/G)ACGTC intron-variant
rs10425488 -- 17,226,748(+) GACCC(G/T)CCCAT reference, missense, utr-variant-5-prime

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

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:
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. (Nat. Genet. 2004) 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  4. The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M. … Gstaiger M. (Cell Rep 2013) 3 64
  5. Protein array based interactome analysis of amyloid-I^ indicates an inhibition of protein translation. (PMID: 21244100) Virok D.P. … FA1lAPp L. (J. Proteome Res. 2011) 3 64

Products for OCEL1 Gene

Sources for OCEL1 Gene

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