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OCEL1 Gene

protein-coding GIFtS: 41

GC19P017201

occludin/ELL domain containing 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
FLJ22709 ^¹, ²
FWP009 ^²
S863-9 ^²

Descriptions
occludin/ELL domain containing 1 ^²

External Ids
HGNC: 26221¹
Entrez Gene: 79629²
UniProtKB: Q9H607³
Ensembl: ENSG00000099330⁷

Search outside databases for aliases for OCEL1 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.11 Ensembl cytogenetic band: 19p13.11 HGNC cytogenetic band: 19p13.11

OCEL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P017201: (about GC identifiers)

Start:	17,198,055 bp from pter
End:	17,201,028 bp from pter
Size:	2,974 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000019.8 NT_011295.10

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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 Da

REFSEQ proteins: NP_078854.1

ENSEMBL proteins:

ENSP00000215061

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse Abcam for Recombinant Proteins
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

Antibodies for OCEL1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for OCEL1
	Browse R&D Systems for Antibodies
	Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for OCEL1

Assays for OCEL1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry Q9H607

ProtoNet protein and cluster: Q9H607

1 Blocks protein family: IPB010844 Occludin and RNA polymerase II elongation factor ELL

UniProtKB/Swiss-Prot: OCEL1_HUMAN, Q9H607

Similarity: Belongs to the ELL/occludin family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (OCEL1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_024578

Applied Biosystems Silencer® siRNAs for OCEL1

Sigma-Aldrich siRNA for OCEL1

Sigma-Aldrich shRNA for OCEL1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for OCEL1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_024578
Myc/DDK tagged cDNA clone in CMV expression vector: NM_024578
untagged cDNA clones in CMV expression vector (see all 2): NM_024578

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_024578

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Interacting protein for OCEL1 (ENSP00000215061³) via UniProtKB, MINT, and/or STRING

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CREBL2	ENSP00000228865³	STRING (score=.7)

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for OCEL1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (OCEL1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_024578

Sigma-Aldrich siRNA for OCEL1

Sigma-Aldrich shRNA for OCEL1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_024578

REFSEQ mRNAs for OCEL1 gene:

NM_024578.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_024578

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_024578
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_024578
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_024578

Additional cDNA sequence:

AF109191.1 AK026362.1 BC004121.2 BC029361.1 BC038945.1 CR598715.1 CR602515.1

8 DOTS entries:

DT.95272108 DT.40251005 DT.314495 DT.100781656 DT.91805948 DT.95332178 DT.91764258 DT.121450966

24/116 AceView cDNA sequences (see all 116 ):

BM979959 BM975221 BC004121 BU753491 CK300293 NM_024578 CR602515 AK026362

BC038945 AI718116 CR598715 AU185792 BM976080 AI290528 BG182568 BC029361

CK300801 BM701945 BV179772 BG214341 BX357556 BP365030 BM808799 BG201708

highest scoring ESTs for OCEL1:

AA428150 AA372071 AA558226 AA715995 AA720988 AA814606 AA909628 AA918747 AA975556 AI216778

Unigene Cluster for OCEL1:

Occludin/ELL domain containing 1

Hs.422676 [show with all ESTs]

Unigene Representative Sequence: BC038945

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for OCEL1 (see all 10 )

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:											-

About this scheme

ECgene alternative splicing isoforms for OCEL1

1 Ensembl transcript including schematic representation:

ENST00000215061

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

OCEL1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for OCEL1

¹ / ² / ³

3 probe-sets matching OCEL1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
38531_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	AA428150	1.00	1.00	1.00	1
205441_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_024578	0.60	1.00	0.82	1
205441_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TATTAGACAC

SOURCE GeneReport for Unigene cluster: Hs.422676

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for OCEL1 gene from 5 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	OCEL1¹	--	occludin/ELL domain containing 1	83.66(n) 75.73(a)	484843 XM_541959.2 XP_541959.2
chimpanzee (Pan troglodytes)	OCEL1¹	--	occludin/ELL domain containing 1	99.49(n) 99.24(a)	455823 XM_512479.2 XP_512479.2
cow (Bos taurus)	OCEL1¹	--	occludin/ELL domain containing 1	83.33(n) 74.7(a)	615639 NM_001076386.1 NP_001069854.1
rat (Rattus norvegicus)	Ocel1¹	--	occludin/ELL domain containing 1	70.61(n) 61.82(a)	290628 XM_214288.2 XP_214288.2
mouse (Mus musculus)	Ocel1^{1, 5}	8⁵	occludin/ELL domain containing 1^{1, 5}	69.22(n)¹ 60.77(a)¹	77090¹ NM_029865.1¹ NP_084141.1¹ AI326022⁵ AI593544⁵ (see all 10)

About this table Species with no ortholog for OCEL1

ENSEMBL Gene Tree for OCEL1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for OCEL1 gene

MARVELD2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/66 NCBI SNPs in OCEL1 are shown (see all 66 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 31)

AB	SNP ID	Valid	Chr 19 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs744067^1,2	A,C,F,H,O	17200947(-)	`TCCCTG/ATAGGG`	1	--	ut3¹ ese³		15		EA NA MN EU WA	1216
	rs891203^1,2	A,C,F,H	17198882(-)	`TCTTTG/CCCTTG`	1	G/A	mis¹		15		NA MN EU EA WA	1580
	rs7258100^1,2	A,C,F,H	17201400(+)	`TTCTTC/TACTCT`	1	--	ng3¹		7		EU EA WA NA	550
	rs7254151^1,2	A,C,F,H	17197904(+)	`TTGAGG/AGTCGA`	1	--	ng5¹		4		EU EA WA	346
--	rs7254737^1,2	A,C	17197641(+)	`cgtctC/Ttacta`	1	--	ng5¹		0	--	--	--	--
--	rs7258339^1,2	A,C	17197523(+)	`GAAACC/TCCGGG`	1	--	ng5¹		0	--	--	--	--
--	rs10425488^1,2	C,F	17198557(+)	`GACCCG/TCCCAT`	1	R/L	mis¹ ese³		1		NA	52
	rs7255142^1,2	A,C	17197962(+)	`GTCAGC/TCCCGC`	1	--	ng5¹		0	--	--	--	--
	rs10414777^1,2	F,H	17197297(+)	`GATTTG/TGGGCA`	1	--	ng5¹		3		EA WA	250
--	rs7254860^1,2	A,C	17197717(+)	`ctactA/Cgggag`	1	--	ng5¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for OCEL1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

3 PubMed articles for OCEL1 gene:

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{3, 4} Ota T....Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{2, 3} Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 79629	HGNC: 26221	AceView: FLJ22709	Ensembl:ENSG00000099330	euGenes: HUgn79629
ECgene: OCEL1	H-InvDB: OCEL1

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Licensable Technologies for OCEL1
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for OCEL1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for OCEL1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for OCEL1		Antibodies for OCEL1
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for OCEL1		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

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	Custom Service for Rabbit Pab from Full-length Protein

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Search Tocris compounds for OCEL1

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Search Novus for antibodies for OCEL1

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OCEL1 Gene

protein-coding GIFtS: 41

Aliases &
Descriptions
for OCEL1

Summaries
for OCEL1

Genomic Location
for OCEL1

Proteins
for OCEL1

Protein Domains/
Families
for OCEL1

Gene Function
for OCEL1

Pathways & Interactions
for OCEL1

Drugs & Compounds
for OCEL1

Transcripts
for OCEL1

Expression
for OCEL1

Orthologs
for OCEL1

Paralogs
for OCEL1

SNPs/Variants
for OCEL1

Disorders & Mutations
for OCEL1

Medical News
for OCEL1

Publications
for OCEL1

Search for OCEL1

Genome Databases showing OCEL1

Other Databases showing OCEL1

Specialized Databases showing OCEL1

Licensable Technologies
for OCEL1

Services
for OCEL1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

OCEL1 Gene

protein-coding GIFtS: 41

Aliases & Descriptionsfor OCEL1

Summariesfor OCEL1

Genomic Locationfor OCEL1

Proteinsfor OCEL1

Protein Domains/Familiesfor OCEL1

Gene Functionfor OCEL1

Pathways & Interactionsfor OCEL1

Drugs & Compoundsfor OCEL1

Transcriptsfor OCEL1

Expression for OCEL1

Orthologsfor OCEL1

Paralogsfor OCEL1

SNPs/Variantsfor OCEL1

Disorders & Mutationsfor OCEL1

Medical Newsfor OCEL1

Publicationsfor OCEL1

Search for OCEL1

Genome Databases showing OCEL1

Other Databases showing OCEL1

Specialized Databases showing OCEL1

Licensable Technologiesfor OCEL1

Servicesfor OCEL1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for OCEL1

Summaries
for OCEL1

Genomic Location
for OCEL1

Proteins
for OCEL1

Protein Domains/
Families
for OCEL1

Gene Function
for OCEL1

Pathways & Interactions
for OCEL1

Drugs & Compounds
for OCEL1

Transcripts
for OCEL1

Expression
for OCEL1

Orthologs
for OCEL1

Paralogs
for OCEL1

SNPs/Variants
for OCEL1

Disorders & Mutations
for OCEL1

Medical News
for OCEL1

Publications
for OCEL1

Licensable Technologies
for OCEL1

Services
for OCEL1