Aliases
for OCEL1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
10fRNAdb,
12H-InvDB,
13NCBI,
14NONCODE,
and/or 15RNAdb)
About This Section
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA
Quality score for the ORGUL clustered with this gene is 3
| Aliases |
|---|
| Occludin/ELL Domain Containing 11 2 | | FWP0092 | | S863-92 | | Occludin/ELL Domain-Containing Protein 12 |
| External Ids: | HGNC: 262211 | Entrez Gene: 796292 | Ensembl: ENSG000000993307 | UniProtKB: Q9H6073 |
Export aliases for OCEL1 gene to outside databasesPrevious GC identifers: GC19P017201 GC19P016904
|---|
Summaries
for OCEL1 gene(According to Entrez Gene,
GeneCards,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
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GeneCards Summary for OCEL1 Gene:
OCEL1 (occludin/ELL domain containing 1) is a protein-coding gene. An important paralog of this gene is MARVELD2.
|
Genomic Views
for OCEL1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 75),
Regulatory elements and Epigenetics data according to
QIAGEN, and/or
SwitchGear Genomics)
About This Section
TryGeneCards Plus | RefSeq DNA sequence:- NC_000019.10 NT_011295.12 NC_018930.2
Regulatory elements:
 Regulatory transcription factor binding sites in the OCEL1 gene promoter:
AhR USF1 NRSF form 1 MyoD USF2 USF-1:USF-2 Nkx2-5 NRSF form 2 Arnt USF-1
Other transcription factors
Search Chromatin IP Primers for OCEL1
Epigenetics:
| | DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OCEL1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19p13.11 Ensembl cytogenetic band: 19p13.11 HGNC cytogenetic band: 19p13.11OCEL1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19P017337: view genomic region
(about GC identifiers)
Start:
|
17,337,013 bp from pter |
End:
|
17,340,028 bp from pter |
Size:
|
3,016 bases |
Orientation:
|
plus strand |
|
Proteins
for OCEL1 gene
(According to
1UniProtKB,
HORDE,
2neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to PhosphoSitePlus,
Specific Peptides from DME,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Cloud-Clone Corp.,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Cloud-Clone Corp.,
Antibodies by
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
LSBio,
Abcam, and/or
Cloud-Clone Corp.)
About This Section
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UniProtKB/Swiss-Prot: OCEL1_HUMAN, Q9H607 (See
protein sequence)Recommended Name: Occludin/ELL domain-containing protein 1 Size: 264 amino acids; 29404 DaExplore the universe of human proteins at neXtProt for OCEL1: NX_Q9H607
Explore proteomics data for OCEL1 at MOPED
See OCEL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB
REFSEQ proteins: NP_078854.1
ENSEMBL proteins: ENSP00000215061 ENSP00000471201 ENSP00000469261 ENSP00000470270 ENSP00000471311 ENSP00000470258 ENSP00000471742 ENSP00000470883 ENSP00000469624
OCEL1 Human Recombinant
Protein Products:OCEL1 Antibody
Products:OCEL1 Assay Products: |
Domains /
Families
for OCEL1 gene(According to HGNC, IUPHAR, InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
TryGeneCards Plus | 1 InterPro protein domain:Graphical View of Domain Structure for InterPro Entry Q9H607 ProtoNet protein and cluster: Q9H607 1 Blocks protein domain: IPB010844 Occludin and RNA polymerase II elongation factor ELL
UniProtKB/Swiss-Prot: OCEL1_HUMAN, Q9H607Similarity: Belongs to the ELL/occludin family
OCEL1 for domains About GeneDecksing
|
Function
for OCEL1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
genOway,
transcription factor targeting from QIAGEN
and/or HOMER,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
SwitchGear Genomics,
Gene Editing from DNA2.0,
Clones from OriGene,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
ESI BIO,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Apr 2014 via
Entrez Gene.)
About This Section
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Phenotypes:
3 GenomeRNAi human phenotypes for OCEL1:
Animal Models:
Inhib. RNA
Products: |  | OriGene RNAi products in human, mouse, rat for OCEL1
| | | Predesigned siRNA for gene silencing in human, mouse, rat OCEL1 |
Cell Line
Products: |  | GenScript Custom overexpressing Cell Line Services for OCEL1 | |  | Browse ESI BIO Cell Lines and PureStem Progenitors for OCEL1  | In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OCEL1 |
Localization
for OCEL1 gene
(According to UniProtKB, COMPARTMENTS Subcellular localization database,
Ontologies according to Gene Ontology Consortium 01 Apr 2014 via
Entrez Gene.)
About This Section
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Subcellular locations from COMPARTMENTS:
| Compartment | Confidence |
|---|
|
| nucleus | 3 | | cytosol | 2 | | golgi apparatus | 2 |
|
Pathways & Interactions
for OCEL1 gene
(SuperPaths according to PathCards,
Pathways according to
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Sino Biological,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
QIAGEN,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2014 via
Entrez Gene).
About This Section
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Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OCEL1
Interactions:
Search GeneGlobe Interaction Network for OCEL1
|
Drugs & Compounds
for OCEL1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience,
ApexBio,
HMDB,
BitterDB, and/or
Novoseek,
Ligands according to IUPHAR,
and Drugs according to DrugBank,
Enzo Life Sciences, and/or
PharmGKB)
About This Section
TryGeneCards Plus |  Browse compounds at ApexBio
 Browse Tocris compounds for OCEL1
|
Transcripts
for OCEL1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
Conferences by KenesGroup,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
SwitchGear Genomics,
Tagged/untagged cDNA clones from
OriGene,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene, and/or
QIAGEN
)
About This Section
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REFSEQ mRNAs for OCEL1 gene: NM_024578.1 Unigene Cluster for OCEL1: Occludin/ELL domain containing 1 Hs.422676 [show with all ESTs]Unigene Representative Sequence: BC03894515 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000215061(uc002nfp.3) ENST00000602236 ENST00000601576 ENST00000601529
ENST00000599588 ENST00000594283 ENST00000600232 ENST00000597836 ENST00000598068
ENST00000596279 ENST00000598172 ENST00000599286 ENST00000595769 ENST00000595573
ENST00000600826
Inhib. RNA
Products: | | OriGene RNAi products in human, mouse, rat for OCEL1
| |
| | Predesigned siRNA for gene silencing in human, mouse, rat OCEL1 |
Primer
Products: | | OriGene qSTAR qPCR primer pairs in human, mouse for OCEL1
| | | Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OCEL1 | | | QuantiTect SYBR Green Assays in human, mouse, rat OCEL1 | | | QuantiFast Probe-based Assays in human, mouse, rat OCEL1 |
Additional mRNA sequence: AF109191.1 AK026362.1 BC004121.2 BC029361.1 BC038945.1 8 DOTS entries: DT.95272108 DT.40251005 DT.314495 DT.91805948 DT.95332178 DT.100781656 DT.121450966 DT.91764258 Selected AceView cDNA sequences (see all 116): NM_024578 AI290528 AU185792 BM976080 AI718116 BM975221 BC029361 CR598715 CR602515 CK300293 BC038945 BM701945 BG182568 BM979959 BU753491 BC004121 BV179772 AK026362 CK300801 AL523736 BQ445920 BI488922 BQ014997 BG214341
GeneLoc Exon Structure
Selected Alternative Splicing Database (ASD) splice patterns (SP) for OCEL1 (see all 10) About this scheme
| 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: | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for OCEL1
|
Expression
for OCEL1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
Protein expression images according to data from SPIRE 1MOPED,
2PaxDb, and 3MaxQB,
plus additional links to
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
QIAGEN,
Primers from
OriGene, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
TryGeneCards Plus | OCEL1 expression in normal human tissues
(normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TATTAGACAC
About this image OCEL1 Protein expression data from MOPED1, PaxDb2 and
MaxQB3:  About this image
SOURCE GeneReport for Unigene cluster: Hs.422676
Custom PCR Arrays for OCEL1
Primer
Products: | | OriGene qSTAR qPCR primer pairs in human, mouse for OCEL1
| | | Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OCEL1 | | | QuantiTect SYBR Green Assays in human, mouse, rat OCEL1 | | | QuantiFast Probe-based Assays in human, mouse, rat OCEL1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OCEL1 |
Orthologs
for OCEL1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
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This gene was present in the common ancestor of animals.
Orthologs for OCEL1 gene from Selected species (see all 10) About this table
ENSEMBL Gene Tree for OCEL1 (if available)
TreeFam Gene Tree for OCEL1 (if available) |
Paralogs
for OCEL1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
TryGeneCards Plus | Paralogs for OCEL1 gene
- MARVELD22 ELL32 ELL22 ELL2
Selected SIMAP similar genes for OCEL1 using alignment to 10 protein entries: OCEL1_HUMAN (see all proteins)
(see all similar genes):C17orf86 FKBP3 FP1523 FAM175A HMGA2 PTPLA
HKR1 LYRM4 AURA2 LINC00596 ZNF564 DNAPTP3
NF2 UTY SPATS2L SEPT2 MARVELD2 TSEN2
OCEL1 for paralogs About GeneDecksing
|
Genomic Variants
for OCEL1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
4UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD), the Human Cytochrome P450 Allele
Nomenclature Database, and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section
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| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for OCEL1 (17337013 - 17340028 bp)
Structural Variations
Database of Genomic Variants (DGV) 10 variations for OCEL1: About this table
| | Site Specific Mutation Identification with PCR Assays |
| | SeqTarget long-range PCR primers for resequencing OCEL1 |
|
Disorders
/ Diseases
for OCEL1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Conferences by KenesGroup,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
TryGeneCards Plus | -- |
Publications
for OCEL1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
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PubMed articles for OCEL1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with OCEL1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
- The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
- Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
- Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
- hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
|
External Searches for OCEL1 gene (in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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|
Genome Databases showing OCEL1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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|
Other Databases showing OCEL1 gene
(According to HUGE)
About This Section
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Specialized Databases showing OCEL1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section
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| Name | Description |
| PharmGKB entry for OCEL1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
TryGeneCards Plus | Patent Information for OCEL1 gene:
Search GeneIP for patents involving OCEL1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for OCEL1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or
ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory,
genOway)
About This Section
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 | |
 |
| | | | |
 |
 |
|  | Block miRNA regulation of human, mouse, rat OCEL1 using miScript Target Protectors | | SeqTarget long-range PCR primers for resequencing OCEL1 | | | DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OCEL1 | | Predesigned siRNA for gene silencing in human, mouse, rat OCEL1 | | | QuantiFast Probe-based Assays in human, mouse, rat OCEL1 | | QuantiTect SYBR Green Assays in human, mouse, rat OCEL1 | | | Custom PCR Arrays for OCEL1 | | Search Chromatin IP Primers for OCEL1 | | | Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OCEL1 | | Search GeneGlobe Interaction Network for OCEL1 | | | Regulatory tfbs in OCEL1 promoter |
| |
 |  |  |  | |
| | | Search Tocris compounds for OCEL1 |
| | |  |  |  |
 | | | | |
 |
 |
 |  | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OCEL1 |
| |  |  |  |  | | | ThermoFisher Antibodies for OCEL1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OCEL1 |
| | | | LSBio Antibodies in human, mouse, rat for OCEL1 |
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