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OFCC1 Gene

protein-coding GIFtS: 37

GC06M009815

orofacial cleft 1 candidate 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)
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Aliases
MGC142101 ^²
MGC142103 ^²
MRDS1 ^¹, ², ³
OTTHUMP00000039226 ^²

Descriptions
Orofacial clefting chromosomal breakpoint region candidate 1 protein ^³
orofacial cleft 1 candidate 1 ^²
orofacial clefting chromosomal breakpoint region 1 ^²

External Ids
HGNC: 21017¹
Entrez Gene: 266553²
UniProtKB: Q8IZS5³
Ensembl: ENSG00000181355⁷

Search outside databases for aliases for OFCC1 gene

Previous GC identifers: GC06M009768 GC06M009813

(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

Transcription factor binding sites upstream to the OFCC1 gene

Entrez Gene cytogenetic band: 6p24.3 Ensembl cytogenetic band: 6p24.3 HGNC cytogenetic band: 6p24.3

OFCC1 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 6 GeneLoc Exon Structure

GeneLoc location for GC06M009815: (about GC identifiers)

Start:	9,813,644 bp from pter
End:	10,168,908 bp from pter
Size:	355,265 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000006.10 NT_007592.14

(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: OFCC1_HUMAN, Q8IZS5 (See protein sequence)

Recommended Name: Orofacial cleft 1 candidate gene 1 protein

Size: 231 amino acids; 26754 Da

Secondary accessions: Q7Z2X5 Q8IUL6 Q8IUM1 Q8IZR9 Q8IZS1 Q8IZS3

Alternative splicing: 5 isoforms: Q8IZS5-1 Q8IZS5-2 Q8IZS5-3 Q8IZS5-4 Q8IZS5-5

REFSEQ proteins: NP_694548.1

ENSEMBL proteins:

ENSP00000352342 ENSP00000337649 ENSP00000330764 ENSP00000327601 ENSP00000330819 ENSP00000325053

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
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OriGene Purified Recombinant Human Protein: OFCC1

Antibodies for OFCC1:

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	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
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Assays for OFCC1:

	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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ProtoNet protein and cluster: Q8IZS5

(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 (OFCC1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_153003

Applied Biosystems Silencer® siRNAs for OFCC1

Sigma-Aldrich siRNA for OFCC1

Sigma-Aldrich shRNA for OFCC1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_153003
Myc/DDK tagged cDNA clone in CMV expression vector: NM_153003
untagged cDNA clone in CMV expression vector: NM_153003

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_153003

(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.)
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(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 OFCC1

(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 (OFCC1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_153003

Sigma-Aldrich siRNA for OFCC1

Sigma-Aldrich shRNA for OFCC1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_153003

REFSEQ mRNAs for OFCC1 gene:

NM_153003.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_153003

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_153003
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_153003
                                 untagged cDNA clone in CMV expression vector: NM_153003

Additional cDNA sequence:

AF520800.1 AF520801.1 AF520802.1 AF520803.1 AF520804.1 AF520805.1 AF520806.1 AF520807.1

AF520808.1 AF548113.1 AF548115.1 AF548116.1 AF548122.1 AF548123.1 AY309094.1 BC113541.1

BC113543.1 BC143837.1

5 DOTS entries:

DT.100024920 DT.100024924 DT.100024925 DT.100024929 DT.100721854

19 AceView cDNA sequences:

AY538274 AF520802 AF520803 AF520800 AF548116 AF548113 NM_153003 AF548115

AF520804 AF520801 AF520807 AF520808 AF548123 AF520805 AF520806 AY309094

AF548117 AF548118 AF548121

highest scoring ESTs for OFCC1:

AF520800 AF520801 AF520802 AY309094 AF520803 AF520804 AF520805 AF520806 AF520807 AF520808

Unigene Cluster for OFCC1:

Orofacial cleft 1 candidate 1

Hs.532138 [show with all ESTs]

Unigene Representative Sequence: AF548116

GeneLoc Exon Structure

6 Ensembl transcripts including schematic representations:

ENST00000359382 ENST00000336327 ENST00000328225 ENST00000331403 ENST00000327391 ENST00000316020

(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 )
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OFCC1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for OFCC1

¹ / ²

11 probe-sets matching OFCC1 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
1565111_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1565065_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1553076_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1553075_a_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1562591_a_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1564783_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1555708_a_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1564805_a_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1565027_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1564590_a_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1565026_a_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: GTTTCTTGTT

SOURCE GeneReport for Unigene cluster: Hs.532138

(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)
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Orthologs for OFCC1 gene from 3 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	OFCC1¹	--	orofacial cleft 1 candidate 1	92.69(n) 85.09(a)	609660 XM_846959.1 XP_852052.1
mouse (Mus musculus)	Ofcc1⁵	13	orofacial cleft 1 candidate 1	--	EU683439
rainbow trout (Oncorhynchus mykiss)	BX297187.1²	--	--	84.94(n)	BX297187.1

About this table Species with no ortholog for OFCC1

ENSEMBL Gene Tree for OFCC1

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

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/957 NCBI SNPs in OFCC1 are shown (see all 957 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 366)

AB	SNP ID	Valid	Chr 6 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs6459613^1,2	A,C,F,H	10170597(+)	`AGGATA/CGTTTT`	1	--	ng3¹		12	EA NA EU WA	1054
	rs9477208^1,2	A,C,F,H	10004555(+)	`CAGTCT/CCACTG`	1	--	ng5¹		4	EU EA WA	402
--	rs9477310^1,2	C,F,H	10041478(+)	`CAGCCG/AACTTG`	1	L/S	mis¹ ese³		8	EU EA WA	826
	rs1197947^1,2	C,F,H	10004799(-)	`ACTTTT/CTATTG`	1	--	ng5¹		4	EU EA WA	378
	rs9477708^1,2	A,F,H	10170840(+)	`ACAACA/GCTGAT`	1	--	ng3¹		4	EU EA WA	420
	rs9477211^1,2	C,F,H	10008687(+)	`TCAGAG/ATCTCC`	1	I/T	mis¹ ese³		8	EU EA WA	836
	rs9383206^1,2	C,H	10011636(+)	`TTAATC/TGATTA`	1	R/Q	mis¹ ese³		4	EU EA WA	414
	rs201227^1,2	A,C,F,H,O	10136778(-)	`GTCATG/AGGTCC`	1	--	int¹		13	EA NA EU WA	1138
	rs201249^1,2	A,C,F,H,O	10121666(-)	`CACTTC/GTTATT`	1	--	int¹		25	EU EA WA NS NA	1940
	rs201237^1,2	A,C,F,H,O	10128229(-)	`AACGCT/CGATTG`	1	--	int¹		10	MN NA EU EA WA	920

About this table

HapMap Linkage Disequilibrium images for OFCC1 (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

UniProtKB/Swiss-Prot: OFCC1_HUMAN, Q8IZS5

A chromosomal aberration involving OFCC1 is found in patients with orofacial cleft type 1

(OFC1) [MIM:119530]

Human Genome Epidemiology Navigator: OFCC1 (1 document)

(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

5 PubMed articles for OFCC1 gene:

Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PubMed id 19367581)³ So H.C....Sham P.C. (2009)
Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region. (PubMed id 15218257)⁴ Davies S.J.... Ragoussis J. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)⁴ Gerhard D.S....Malek J. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)³ Strausberg R.L....Marra M.A. (2002)
Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )⁴ Aoki H.... Hino O. (2000)

(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: 266553	HGNC: 21017	AceView: OFCC1	Ensembl:ENSG00000181355	euGenes: HUgn266553
ECgene: OFCC1	H-InvDB: OFCC1

(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)
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Licensable Technologies for OFCC1
(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 OFCC1:

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 OFCC1-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 OFCC1		Browse antibodies at Sigma-Aldrich
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	Lentivirus-delivered shRNAs for OFCC1		Browse small molecules at Sigma-Aldrich
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	Recombinant & Natural Proteins

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Search Tocris compounds for OFCC1

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

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OFCC1 Gene

protein-coding GIFtS: 37

Aliases &
Descriptions
for OFCC1

Summaries
for OFCC1

Genomic Location
for OFCC1

Proteins
for OFCC1

Protein Domains/
Families
for OFCC1

Gene Function
for OFCC1

Pathways & Interactions
for OFCC1

Drugs & Compounds
for OFCC1

Transcripts
for OFCC1

Expression
for OFCC1

Orthologs
for OFCC1

Paralogs
for OFCC1

SNPs/Variants
for OFCC1

Disorders & Mutations
for OFCC1

Medical News
for OFCC1

Publications
for OFCC1

Search for OFCC1

Genome Databases showing OFCC1

Other Databases showing OFCC1

Specialized Databases showing OFCC1

Licensable Technologies
for OFCC1

Services
for OFCC1

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

OFCC1 Gene

protein-coding GIFtS: 37

Aliases & Descriptionsfor OFCC1

Summariesfor OFCC1

Genomic Locationfor OFCC1

Proteinsfor OFCC1

Protein Domains/Familiesfor OFCC1

Gene Functionfor OFCC1

Pathways & Interactionsfor OFCC1

Drugs & Compoundsfor OFCC1

Transcriptsfor OFCC1

Expression for OFCC1

Orthologsfor OFCC1

Paralogsfor OFCC1

SNPs/Variantsfor OFCC1

Disorders & Mutationsfor OFCC1

Medical Newsfor OFCC1

Publicationsfor OFCC1

Search for OFCC1

Genome Databases showing OFCC1

Other Databases showing OFCC1

Specialized Databases showing OFCC1

Licensable Technologiesfor OFCC1

Servicesfor OFCC1

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 OFCC1

Summaries
for OFCC1

Genomic Location
for OFCC1

Proteins
for OFCC1

Protein Domains/
Families
for OFCC1

Gene Function
for OFCC1

Pathways & Interactions
for OFCC1

Drugs & Compounds
for OFCC1

Transcripts
for OFCC1

Expression
for OFCC1

Orthologs
for OFCC1

Paralogs
for OFCC1

SNPs/Variants
for OFCC1

Disorders & Mutations
for OFCC1

Medical News
for OFCC1

Publications
for OFCC1

Licensable Technologies
for OFCC1

Services
for OFCC1