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OCEL1 Gene(Protein Coding)

Occludin/ELL Domain Containing 1

GCID:
GC19P020605
GIFtS:
38
Genes Participants
UDN Logo

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
  • 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. 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
GH19J017224 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 647.3 +0.2 193 3.6 SP1 ZNF652 ZFX ELF3 ZNF148 NKRF POLR2A MLLT1 ZNF121 CEBPG OCEL1 USE1 ANKLE1 GC19M017243
GH19J017239 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 14.7 +18.8 18812 10.4 ZNF652 SP1 ZFX ELF3 ZKSCAN8 MNT CBFA2T2 ZNF148 MLLT1 RERE NR2F6 GC19M017243 CHERP ENSG00000267904 MVB12A GTPBP3 C19orf44 ENSG00000268087 OCEL1 ENSG00000268743
GH19J017214 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 15.3 -10.7 -10687 2.2 SP1 ZNF652 CC2D1A ZFX ELF3 MNT SIX5 ZNF148 NKRF POLR2A USE1 OCEL1 MVB12A RPL18A GTPBP3 PLVAP CHERP COLGALT1 IL12RB1 MYO9B
GH19J017302 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13 +81.6 81580 11.5 ZNF652 SP1 ZFX CC2D1A CTCF ELF3 ZKSCAN8 MNT SIX5 CBFA2T2 MRPL34 ABHD8 DDA1 CHERP C19orf44 ENSG00000269427 ENSG00000268743 ENSG00000267904 SIN3B ENSG00000269578
GH19J017281 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 13.9 +55.9 55907 2.2 ZFX CC2D1A CTCF ELF3 MNT CBFA2T2 NKRF ZNF121 GTF2F1 ZNF687 ANKLE1 USHBP1 MRPL34 OCEL1 ABHD8 ENSG00000269307 BABAM1
- 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

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
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)
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 Structure • Gene Density

RefSeq DNA sequence for OCEL1 Gene

Proteins for OCEL1 Gene

Products:

  1. Antibody
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  3. Assay

  • 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

Protein Expression for OCEL1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for OCEL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OCEL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Blocks:
InterPro:
ProtoNet:

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

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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

  • Applied Biological Materials (abm): Clones for OCEL1 - Now 50% OFF >
  • * OCEL1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * OCEL1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 2
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

GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards
PathCards logo

SuperPathways for OCEL1 Gene

No Data Available

Interacting Proteins for OCEL1 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 17)
https://version11.string-db.org/api/image/network?species=9606&limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000215061%0d9606.ENSP00000358739%0d9606.ENSP00000377262%0d9606.ENSP00000265343%0d9606.ENSP00000359489%0d9606.ENSP00000378578%0d
Selected Interacting proteins: ENSP00000215061 Q9H607-OCEL1_HUMAN for OCEL1 Gene via STRING IID

GPS-Prot Interaction Network for OCEL1

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

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  1. Drug
GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards
No Compound Related Data Available

Transcripts for OCEL1 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for OCEL1 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(116) Selected AceView cDNA sequences:
(15) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for OCEL1 Gene

Occludin/ELL domain containing 1:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for OCEL1 - Now 50% OFF >
  • * OCEL1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * OCEL1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

Products:

  1. Primer
  2. Gene Expression Assay
GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

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

mRNA expression in normal human tissues for OCEL1 Gene
mRNA expression by BioGPS for OCEL1 GenemRNA expression by GTEx 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

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 35 34
  • 99.49 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia OCEL1 34
  • 84.47 (n)
-- 35
  • 79 (a)
 OneToMany
-- 35
  • 74 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia OCEL1 35 34
  • 81.2 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ocel1 17 35 34
  • 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)
Aminode:
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:

  • OCEL1_HUMAN
  • M0QXM2_HUMAN
  • M0QY63_HUMAN
  • M0QZ32_HUMAN
  • M0QZ36_HUMAN
  • M0QZZ7_HUMAN
  • M0R0F7_HUMAN
  • M0R0L3_HUMAN
  • M0R1A4_HUMAN
  • Q6PKA4_HUMAN
genes like me logo Genes that share paralogs with OCEL1: view

Variants for OCEL1 Gene

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  1. SNP Genotyping and Copy Number Assay
VarElect - NGS phenotyper. Rapid prioritization of variants from NGS data powered by 100+ GeneCards sources

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OCEL1
Human Gene Mutation Database (HGMD)
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

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 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

ExternalLinks

View latest publications for OCEL1 gene in Mastermind

Products for OCEL1 Gene

Sources for OCEL1 Gene

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