Aliases for OCEL1 Gene
External Ids for OCEL1 Gene
- HGNC: 26221
- Entrez Gene: 79629
- Ensembl: ENSG00000099330
- UniProtKB: Q9H607
Previous GeneCards Identifiers for OCEL1 Gene
- GC19P017201
- GC19P017337
- GC19P016904
- GC19P017289
- GC19P017685
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 ELL3.
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 | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
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 |
|---|
ENSRs around OCEL1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the OCEL1 gene promoter:
Regulatory Element Products
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:
-
- 19p13.11 by Ensembl
- 19p13.11 by Entrez Gene
- 19p13.11 by HGNC
OCEL1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
Protein Expression for OCEL1 Gene
Post-translational modifications for OCEL1 Gene
Other Protein References for OCEL1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for OCEL1
- Novus Biologicals Antibodies for OCEL1
- Abcam antibodies for OCEL1
- Search GeneTex for Antibodies for OCEL1
-
Santa Cruz Biotechnology (SCBT) Antibodies for OCEL1
Protein Products
-
OriGene Purified Proteins for OCEL1
- Search Origene for MassSpec and Protein Over-expression Lysates for OCEL1
- Origene Custom Protein Services for OCEL1
- Search GeneTex for Proteins for OCEL1
Assay Products
No data available for DME Specific Peptides for OCEL1 Gene
Domains & Families for OCEL1 Gene
Protein Domains for OCEL1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for OCEL1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9H607- Family:
-
- Belongs to the ELL/occludin family.
No data available for Gene Families for OCEL1 Gene
Function for OCEL1 Gene
Phenotypes for OCEL1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for OCEL1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for OCEL1 gene
- Search ViGene Biosciences for OCEL1
CRISPR Products
-
OriGene CRISPR knockouts for OCEL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for OCEL1
- GenScript: Design CRISPR guide RNA sequences for OCEL1
miRNA Products
- Search ViGene Biosciences for OCEL1
Clone Products
- OriGene clones in human for OCEL1
- OriGene ORF clones in human,mouse,rat for OCEL1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for OCEL1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for OCEL1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for OCEL1 gene
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
| Compartment | Confidence |
|---|---|
| nucleus | 3 |
| cytosol | 2 |
| golgi apparatus | 2 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for OCEL1 Gene
Pathways & Interactions for OCEL1 Gene
More details on SuperPathways for OCEL1
No Data Available
Interacting Proteins for OCEL1 Gene
No data available for Pathways by source and SIGNOR curated interactions for OCEL1 Gene
Transcripts for OCEL1 Gene
mRNA/cDNA for OCEL1 Gene
- (3) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (116) Selected AceView cDNA sequences:
- (15) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for OCEL1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for OCEL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for OCEL1
- GenScript: Design CRISPR guide RNA sequences for OCEL1
miRNA Products
- Search ViGene Biosciences for OCEL1
Clone Products
- OriGene clones in human for OCEL1
- OriGene ORF clones in human,mouse,rat for OCEL1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
| 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: |
Expression for OCEL1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
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
SOURCE GeneReport for Unigene cluster for OCEL1 Gene Hs.422676
Primer Products
-
OriGene qPCR primer pairs for OCEL1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | OCEL1 35 |
|
||
| -- 36 |
|
OneToMany | |||
| -- 36 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | OCEL1 35 |
|
||
| OCEL1 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Ocel1 35 |
|
||
| Ocel1 16 |
|
||||
| Ocel1 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | OCEL1 35 |
|
||
| OCEL1 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Ocel1 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | OCEL1 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | -- 36 |
|
ManyToMany | |
| zebrafish (Danio rerio) |
Actinopterygii | si:dkey-208k22.6 36 |
|
ManyToMany | |
| fruit fly (Drosophila melanogaster) |
Insecta | Su(Tpl) 36 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.1855 36 |
|
OneToMany |
- Species with no ortholog for OCEL1:
-
- 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)
Paralogs for OCEL1 Gene
(20) SIMAP similar genes for OCEL1 Gene using alignment to 10 proteins:
Variants for OCEL1 Gene
| SNP ID | Clin | Chr 19 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs10425488 | - | 17,226,748(+) | GACCC(G/T)CCCAT | reference, missense, utr-variant-5-prime | |
| rs891203 | - | 17,227,073(-) | TCTTT(C/G)CCTTG | reference, missense | |
| rs7258100 | -- | 17,229,591(+) | TTCTT(C/T)ACTCT | downstream-variant-500B | |
| rs7258339 | -- | 17,225,714(+) | GAAAC(C/T)CCGGG | upstream-variant-2KB | |
| rs7258569 | -- | 17,229,667(+) | GGCCT(A/G)GGGGG | downstream-variant-500B |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv3756n71 | CNV | Loss | 21882294 |
| nsv458373 | CNV | Loss | 19166990 |
| dgv3757n71 | CNV | Loss | 21882294 |
| dgv3758n71 | CNV | Loss | 21882294 |
| nsv911182 | CNV | Loss | 21882294 |
| nsv470129 | CNV | Loss | 18288195 |
| nsv911185 | CNV | Loss | 21882294 |
| nsv911186 | CNV | Gain | 21882294 |
| nsv828469 | CNV | Loss | 20364138 |
| nsv911188 | CNV | Loss | 21882294 |
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
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
- 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 67
- 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
- The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M. … Gstaiger M. (Cell Rep 2013) 3
- 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
- Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3
Products for OCEL1 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
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- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
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- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for OCEL1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for OCEL1
- Search Origene for MassSpec and Protein Over-expression Lysates for OCEL1
- Origene Custom Protein Services for OCEL1
- Origene siRNA, shRNA, mouse_rna, rat_shrna, and RNAi products in human, mouse, rat for OCEL1
- Browse OriGene Inhibitory RNA Products For OCEL1
- OriGene qPCR primer pairs for OCEL1
- OriGene CRISPR knockouts for OCEL1
- OriGene clones in human for OCEL1
- OriGene ORF clones in human,mouse,rat for OCEL1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- GenScript: Next-day shipping cDNA clones in your preferred vector
- GenScript Custom Purified and Recombinant Proteins Services for OCEL1
- GenScript Custom Assay Services for OCEL1
- GenScript Custom overexpressing Cell Line Services for OCEL1
- GenScript: Design CRISPR guide RNA sequences for OCEL1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for OCEL1
- Novus Biologicals Antibodies for OCEL1
- Novus Biologicals proteins and lysates for OCEL1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- ViGene Biosciences adenoviral particle packaged cDNA for OCEL1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for OCEL1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for OCEL1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for OCEL1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for OCEL1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for OCEL1 gene
- Search ViGene Biosciences for OCEL1
- Search ViGene Biosciences for OCEL1
- Santa Cruz Biotechnology (SCBT) Antibodies for OCEL1
- Search Santa Cruz Biotechnology (SCBT) for OCEL1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for OCEL1
Sources for OCEL1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
- (71) Tufts
- (72) YEDA
- (73) CROW21
- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
- (91) DISEASES
- (92) SIMAP
- (93) GenomeRNAi
- (94) LifeMap
- (95) miRTarBase
- (96) MalaCards
- (97) Invitrogen
- (98) BitterDB
- (99) Vector BioLabs
- (100) ESI-BIO
- (101) RefSeq
- (102) BioSystems
- (103) MaxQB
- (104) IUPHAR
- (105) BioGPS
- (106) Illumina
- (107) COMPARTMENTS
- (108) HOMER
- (109) PaxDb
- (110) ApexBio
- (111) Addgene
- (112) Advanced Cell Diagnostics
- (113) antibodies-online
- (114) CYP
- (115) NONCODE
- (116) SwitchGear Genomics
- (117) TreeFam
- (118) PathCards
- (119) GeneReviews
- (120) GeneTex
- (121) Taconic Biosciences
- (122) GTEx
- (123) ProteomicsDB
- (124) SCBT
- (125) DGIdb
- (126) ClinicalTrials
- (127) FDA Approved Drugs
- (128) RVIS
- (129) SIGNOR
- (130) diseasecard
- (131) NIH Rare Diseases
- (132) Orphanet
- (133) UMLS
- (134) GTR
- (135) Disease Ontology
- (136) Genetics Home Reference
- (137) MeSH
- (138) MedlinePlus
- (139) CDC
- (140) NINDS
- (141) NCBI Bookshelf
- (142) ClinVar
- (143) Gene Damage Index
- (144) ViGene Biosciences
- (145) HPO
- (146) UDN
- (147) VISTA
- (148) FANTOM5
- (149) ENCODE
- (150) ProSci
- (151) Horizon