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OFCC1 Gene

protein-coding   GIFtS: 45
GCID: GC06M009596

Orofacial Cleft 1 Candidate 1

  See OFCC1-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)
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Aliases
Orofacial Cleft 1 Candidate 11 2
MRDS12 3 5
Orofacial Clefting Chromosomal Breakpoint Region Candidate 1 Protein2 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   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 Chromatin IP Primers for OFCC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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   

Explore the universe of human proteins at neXtProt for OFCC1: NX_Q8IZS5

Explore proteomics data for OFCC1 at MOPED


See OFCC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


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

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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,
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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding IPI--
     
Find genes that share ontologies with OFCC1           About GenesLikeMe


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

Animal Models:
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miRTarBase miRNAs that target OFCC1:
hsa-mir-181a-5p (MIRT025134)

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Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat OFCC1

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OFCC1


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane3
nucleus1
peroxisome1

Gene Ontology (GO): 5 cellular component terms:    About this table

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

Find genes that share ontologies with OFCC1           About GenesLikeMe


(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).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OFCC1
Interactions:

    Search GeneGlobe Interaction Network for OFCC1

2 Interacting proteins for OFCC1 (Q8IZS51) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
KDM1AO603411EBI-8477661,EBI-710124
PRMT1Q998731EBI-8477661,EBI-78738
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(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)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for 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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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
16 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
ENST00000472329(uc003myn.3 uc011dif.1 uc011dig.1) ENST00000466385
ENST00000491508 ENST00000485268(uc010joj.1) ENST00000481704(uc003myp.1)
ENST00000462111 ENST00000316020(uc010joi.1)
miRNA
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OFCC1
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Pre-validated RT2 qPCR Primer Assay in human, mouse / rat OFCC1
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  Search 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 AF520804 AF520801 AF520800 AF520807 AY538274 AF520802 AF548116 
AF520808 NM_153003 AF520803 AF548113 AF548123 AF520805 AY309094 AF520806 
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™, 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)
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OFCC1 expression in normal human tissues (normalized intensities)
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
 
 Head Mesenchyme (Muscoskeletal System)
         Head Mesenchyme
OFCC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

OFCC1 Protein Expression

SOURCE GeneReport for Unigene clusters: Hs.532138 Hs.544715
    Custom PCR Arrays for OFCC1
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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)
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This gene was present in the common ancestor of chordates.

Orthologs for OFCC1 gene from Selected species (see all 11)    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 77.48(n)1
67.32(a)1
  13 (19.45 cM)5
2181651  NM_172143.21  NP_742155.21 
 400018825 
chicken
(Gallus gallus)
Aves LOC1008590061 orofacial cleft 1 candidate gene 1 protein homolog 89.28(n)
79.13(a)
  100859006  XM_004939701.1  XP_004939758.1 
lizard
(Anolis carolinensis)
Reptilia --
--
Uncharacterized protein
44(a)
11(a)
many → 1
many → 1
GL343209.1(1998233-2022038)
GL343209.1(1862358-1881662)
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1017320081 uncharacterized LOC101732008 62.73(n)
53.2(a)
  101732008  XM_004915667.1  XP_004915724.1 
zebrafish
(Danio rerio)
Actinopterygii LOC1018839781 uncharacterized LOC101883978 55.88(n)
48.79(a)
  101883978  XM_005174632.1  XP_005174689.1 


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)
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Paralogs for OFCC1 gene
1 SIMAP similar gene for OFCC1 using alignment to 8 protein entries:     OFCC1_HUMAN (see all proteins):
MRDS1

Find genes that share paralogs with OFCC1           About GenesLikeMe



(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)
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Selected SNPs for OFCC1 (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: --
Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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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 MalaCards
    chronic tic disorder    tic disorder    orofacial cleft

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

    Find genes that share disorders with OFCC1           About GenesLikeMe

    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)
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    PubMed articles for OFCC1 gene, integrated from 10 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. (Nat. Methods 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. (PLoS Genet. 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. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    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. (Cytogenet. Genome Res. 2004)
    5. Analysis of the MRPL3, DNAJC13 and OFCC1 variants in Chinese Han patients with TS-CTD. (PubMed id 22507240)1 Guo Y....Deng H. (Neurosci. Lett. 2012)
    6. Web-based, participant-driven studies yield novel genetic associations for common traits. (PubMed id 20585627)1 Eriksson N....Mountain J. (PLoS Genet. 2010)
    7. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 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. (BMC Med. Genet. 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. (Genome Res. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 266553 HGNC: 21017 AceView: OFCC1 Ensembl:ENSG00000181355 euGenes: HUgn266553
    ECgene: OFCC1 H-InvDB: OFCC1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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