OFCC1 Gene
protein-coding GIFtS: 39
GCID: GC06M009596
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orofacial cleft 1 candidate 1
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Aliases
for OFCC1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Orofacial Cleft 1 Candidate 11 2 | | MRDS11 2 3 | | Orofacial Clefting Chromosomal Breakpoint Region Candidate 1 Protein2 3 | | Orofacial Cleft 1 Candidate Gene 1 Protein2 |
Export aliases for OFCC1 gene to outside databasesPrevious GC identifers: GC06M009768 GC06M009813 GC06M009815 |
Summaries
for OFCC1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for OFCC1 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000006.11 NT_007592.15 NC_018917.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the OFCC1 gene promoter:
CUTL1 FOXO3b C/EBPalpha S8 FOXJ2 (long isoform) COMP1 FOXO3a Cart-1 FOXJ2 Pax-4a
Other transcription factors
Search SABiosciences Chromatin IP Primers for OFCC1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OFCC1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 6p24.3 Ensembl cytogenetic band: 6p24.3 HGNC cytogenetic band: 6p24.3OFCC1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06M009596: view genomic region
(about GC identifiers)
Start:
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9,596,343 bp from pter |
End:
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10,211,841 bp from pter |
Size:
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615,499 bases |
Orientation:
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minus strand |
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Proteins
for OFCC1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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 Q8IZS3Alternative splicing: 5 isoforms: Q8IZS5-1 Q8IZS5-2 Q8IZS5-3 Q8IZS5-4 Q8IZS5-5 Explore the universe of human proteins at neXtProt for OFCC1: NX_Q8IZS5
OFCC1 Protein expression data from MOPED and PaxDb: About this image 
ENSEMBL proteins: ENSP00000419718 ENSP00000417429 ENSP00000418013 ENSP00000419759 ENSP00000420421 ENSP00000418453 ENSP00000418251 ENSP00000417933 ENSP00000418286 ENSP00000325053
Human Recombinant Protein Products for OFCC1:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
OFCC1 for ontologies About GeneDecksing
OFCC1 Antibody Products:
Assay Products for OFCC1: |
Protein
Domains /
Families
for OFCC1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q8IZS5 |
Function
for OFCC1 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,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
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Phenotypes:
2 GenomeRNAi human phenotypes for OFCC1:
Animal Models:
|
Pathways & Interactions
for OFCC1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for OFCC1
|
Drugs & Compounds
for OFCC1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for OFCC1
Search CenterWatch for drugs/clinical trials and news about OFCC1 
|
Transcripts
for OFCC1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for OFCC1 gene: NM_153003.1 Unigene Clusters for OFCC1: Orofacial cleft 1 candidate 1 Hs.532138 [show with all ESTs], Hs.544715 Unigene Representative Sequences: AF548116, AF52080117 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000469421 ENST00000492094(uc010jog.1 uc003myi.3) ENST00000460363(uc003myh.1)
ENST00000487015(uc021yli.1) ENST00000492169 ENST00000460066(uc003myj.1)
ENST00000469426(uc003myk.1 uc010joh.1) ENST00000469656 ENST00000486246
ENST00000489590(uc003myl.1 uc003mym.1) ENST00000472329(uc003myn.3 uc011dif.1 uc011dig.1)
ENST00000466385 ENST00000491508 ENST00000485268(uc010joj.1) ENST00000481704(uc003myp.1)
ENST00000462111 ENST00000316020(uc010joi.1)
Additional cDNA sequence: AF520801.1 AY538274.1 6 DOTS entries: DT.100024920 DT.100024924 DT.100024925 DT.100024929 DT.121344239 DT.100721854 19 AceView cDNA sequences: NM_153003 AF520801 AF520807 AF520800 AF520802 AF548116 AF520808 AY538274 AF520803 AF548115 AF548113 AF520804 AF548123 AF520806 AF520805 AY309094 AF548117 AF548118 AF548121
GeneLoc Exon Structure
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Expression
for OFCC1 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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| OFCC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGTTTTTTCC
About this image
See OFCC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for OFCC1
SOURCE GeneReport for Unigene clusters: Hs.532138 Hs.544715
SABiosciences Custom PCR Arrays for OFCC1
Primer
Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OFCC1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat OFCC1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OFCC1 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OFCC1 |
Orthologs
for OFCC1 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
|
This gene was present in the common ancestor of chordates.
Orthologs for OFCC1 gene from 3/11 species (see all 11) About this table
ENSEMBL Gene Tree for OFCC1 (if available)
TreeFam Gene Tree for OFCC1 (if available) |
Paralogs
for OFCC1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for OFCC1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 6 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
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HapMap Linkage Disequilibrium report for OFCC1 (9596343 - 9846343 bp, first 250kb of OFCC1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for OFCC1: -- | SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases
for OFCC1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
OFCC1 for disorders About GeneDecksing
OMIM gene information: 614287
OMIM disorders: --
UniProtKB/Swiss-Prot: OFCC1_HUMAN, Q8IZS5
Note=A chromosomal aberration involving OFCC1 is found in patients with orofacial cleft
3  diseases for OFCC1: About MalaCardsorofacial cleft-1 orofacial cleft schizophrenia
1 disease from the University of Copenhagen DISEASES database for OFCC1:Chronic tic disorder Human Genome Epidemiology (HuGE) Navigator: OFCC1 (2 documents)
Export disorders for OFCC1 gene to outside databases
|
Publications
for OFCC1 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
|
PubMed articles for OFCC1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with OFCC1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region. (PubMed id 15218257)1, 2 Davies S.J.... Ragoussis J. (2004)
- Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. (PubMed id 22479202)1 Dastani Z....Kathiresan S. (2012)
- Analysis of the MRPL3, DNAJC13 and OFCC1 variants in C hinese Han patients with TS-CTD. (PubMed id 22507240)1 Guo Y....Deng H. (2012)
- Web-based, participant-driven studies yield novel gen etic associations for common traits. (PubMed id 20585627)1 Eriksson N....Mountain J. (2010)
- Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
- Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PubMed id 19367581)1 So H.C....Sham P.C. (2009)
- Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. (PubMed id 17903295)1 Lunetta K.L....Murabito J.M. (2007)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 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)1 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 )2 Aoki H.... Hino O. (2000)
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External Searches for OFCC1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing OFCC1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing OFCC1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing OFCC1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for OFCC1 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for OFCC1 gene:
Search GeneIP for patents involving OFCC1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for OFCC1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for OFCC1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OFCC1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OFCC1 | | | OriGene Protein Over-expression Lysate for OFCC1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for OFCC1 | | Browse 3'-UTR reporter clones for miRNA target validation | | | Browse OriGene untagged cDNA clones in CMV expression vector | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OFCC1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for OFCC1 | | OriGene Custom Protein Services for OFCC1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat OFCC1 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OFCC1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OFCC1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OFCC1 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OFCC1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OFCC1 |
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| | | | Search Tocris compounds for OFCC1 |
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 | | | OFCC1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  |  | | | | Search ThermoFisher Antibodies for OFCC1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OFCC1 |
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