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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

OFCC1 Gene

protein-coding   GIFtS: 44
GCID: GC06M009596

Orofacial Cleft 1 Candidate 1

  See related diseases
at  

(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

Aliases
Orofacial Cleft 1 Candidate 11 2
Orofacial Clefting Chromosomal Breakpoint Region Candidate 1 Protein2 3
MRDS12 3
Orofacial Cleft 1 Candidate Gene 1 Protein2

External Ids:    HGNC: 210171   Entrez Gene: 2665532   Ensembl: ENSG000001813557   OMIM: 6142875   UniProtKB: Q8IZS53   

Export aliases for OFCC1 gene to outside databases

Previous GC identifers: GC06M009768 GC06M009813 GC06M009815


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

GeneCards Summary for OFCC1 Gene: 
OFCC1 (orofacial cleft 1 candidate 1) is a protein-coding gene. Diseases associated with OFCC1 include chronic tic disorder, and tic disorder.


(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 73), 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_018917.2  
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

SwitchGear Promoter luciferase reporter plasmidOFCC1 promoter sequence
   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: 6p24.3

OFCC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OFCC1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M009596:  view genomic region     (about GC identifiers)

Start:
9,596,343 bp from pter      End:
10,211,841 bp from pter
Size:
615,499 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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 Q8IZS3
Alternative 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

Explore proteomics data for OFCC1 at MOPED 

OFCC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

OFCC1 Protein Expression

ENSEMBL proteins: 
 ENSP00000473634   ENSP00000417429   ENSP00000419718   ENSP00000418013   ENSP00000419759  
 ENSP00000420421   ENSP00000418453   ENSP00000418251   ENSP00000417933   ENSP00000418286  
 ENSP00000325053  

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Cloud-Clone Corp. Proteins for OFCC1 

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm ----
GO:0005783endoplasmic reticulum ----
GO:0005829cytosol ----
GO:0015630microtubule cytoskeleton ----
GO:0048471perinuclear region of cytoplasm ----

OFCC1 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: Q8IZS5


(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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

     Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding IPI--
     
OFCC1 for ontologies           About GeneDecksing


Phenotypes:
     2 GenomeRNAi human phenotypes for OFCC1:
 Decreased cell number and incr  Synthetic lethal with Ras 

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for OFCC1 
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(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for OFCC1

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for OFCC1

Search CenterWatch for drugs/clinical trials and news about OFCC1

(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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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, AF520801
17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000469421 ENST00000492094(uc010jog.1 uc003myi.3) ENST00000487015(uc021yli.1)
ENST00000460363(uc003myh.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)
miRNA
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Inhib. RNA
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OFCC1
Sirion Biotech Customized lentivirus for stable overexpression of OFCC1 
                     Customized lentivirus expression plasmids for stable overexpression of OFCC1 
Primer
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  Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OFCC1

Additional mRNA sequence: 

AF520801.1 AY538274.1 

6 DOTS entries:

DT.100024920  DT.100024924  DT.100024925  DT.100024929  DT.121344239  DT.100721854 

19 AceView cDNA sequences:

AF548115 AF548113 AF520801 AY538274 AF548116 AF520804 AF520803 AF520808 
NM_153003 AF520807 AF520802 AF520800 AY309094 AF548123 AF520806 AF520805 
AF548117 AF548118 AF548121 

GeneLoc Exon Structure


(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)      OFCC1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGTTTTTTCC
OFCC1 Expression
About this image


OFCC1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/1 selected tissues (see all 1) fully expand
 
 Head Mesenchyme (Muscoskeletal System)
         Head Mesenchyme

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
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OriGene qSTAR qPCR primer pairs in human, mouse for OFCC1
SABiosciences RT2 qPCR Primer Assay in human, mouse / rat OFCC1
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Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OFCC1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OFCC1

(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 4/10 species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Ofcc11 , 5 orofacial cleft 1 candidate 11, 5 74.88(n)1
63.4(a)1
  13 (19.45 cM)5
2181651  NM_172143.21  NP_742155.21 
 400018825 
chicken
(Gallus gallus)
Aves OFCC16
Orofacial cleft 1 candidate gene 1 protein homolog...
45(a)
1 ↔ 1
2(63540510-63597084)
lizard
(Anolis carolinensis)
Reptilia --
--
Uncharacterized protein
44(a)
12(a)
possible ortholog
possible ortholog
GL343209.1(1998233-2022038)
GL343209.1(1862358-1881662)
zebrafish
(Danio rerio)
Actinopterygii OFCC16
--
--
4(a)
2(a)
1 ↔ 1
possible ortholog
Zv9_NA372(125961-205798)
Zv9_NA461(22627-70442)


ENSEMBL Gene Tree for OFCC1 (if available)
TreeFam Gene Tree for OFCC1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for OFCC1 gene
1 SIMAP similar gene for OFCC1 using alignment to 8 protein entries:     OFCC1_HUMAN (see all proteins):
MRDS1

OFCC1 for paralogs           About GeneDecksing



(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) 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

10/6129 SNPs in OFCC1 are shown (see all 6129)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1419634611,2
C--9587180(+) AGAAA-/CGAAAA 1 -- int10--------
rs1430560691,2
--9621804(+) GACCTG/TGCAAG 1 -- ds50010--------
rs1461649071,2
--9621973(+) AAGAGA/GTTACT 1 -- ds50010--------
rs1397907651,2
--9622087(+) TTCCTA/GGCTGG 1 -- ds50010--------
rs1415326061,2
--9622200(+) TGTAAC/TAAGAA 1 -- ds50010--------
rs1166240581,2
F--9622321(+) TGTGAT/CCACCA 2 /I /V mis11Minor allele frequency- C:0.01WA 118
rs1855282251,2
--9622921(+) TTTTAA/GACAAG 1 -- int10--------
rs607352881,2
C,F--9622965(+) AAAGCA/GACACG 1 -- int13Minor allele frequency- G:0.07WA NA 240
rs1444794551,2
--9622970(+) AACACA/GATGGG 1 -- int10--------
rs1883831301,2
--9622999(+) ATTTGC/TAAGGA 1 -- int10--------

HapMap Linkage Disequilibrium report for OFCC1 (9596343 - 9846343 bp, first 250kb of OFCC1)

Structural Variations
      Database of Genomic Variants (DGV) variations for OFCC1: --
SABiosciences Cancer Mutation PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing OFCC1
DNA2.0 Custom Variant and Variant Library Synthesis for OFCC1

(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
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

  • 4 diseases for OFCC1:    About MalaCards
    chronic tic disorder    tic disorder    orofacial cleft    schizophrenia

    2 diseases from the University of Copenhagen DISEASES database for OFCC1:
    Gilles de la Tourette syndrome     Chronic tic disorder

    OFCC1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): OFCC1
    Human Genome Epidemiology (HuGE) Navigator: OFCC1 (2 documents)

    Export disorders for OFCC1 gene to outside databases

    (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 (see all 11):
    (articles sorted by number of sources associating them with OFCC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1, 2 Weimann M.... Stelzl U. (2013)
    2. 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, 4 Dastani Z....Kathiresan S. (2012)
    3. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PubMed id 19367581)1, 4 So H.C....Sham P.C. (2009)
    4. 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)
    5. 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)
    6. Web-based, participant-driven studies yield novel gen etic associations for common traits. (PubMed id 20585627)1 Eriksson N....Mountain J. (2010)
    7. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    8. 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)
    9. 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)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    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, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 266553 HGNC: 21017 AceView: OFCC1 Ensembl:ENSG00000181355 euGenes: HUgn266553
    ECgene: OFCC1 H-InvDB: OFCC1

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for OFCC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    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



    (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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, 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, genOway)
    About This Section

     
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     Proteins for OFCC1
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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 


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