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

CFDP1 Gene

protein-coding   GIFtS: 54
GCID: GC16M075327

Craniofacial Development Protein 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
Craniofacial Development Protein 11 2     CENP-292
BCNT2 3 5     SWC52
Bucentaur1 3     Yeti2
Centromere Protein 291 2     p972
CP272 5     Phosphoprotein (Bucentaur)2
BUCENTAUR2     

External Ids:    HGNC: 18731   Entrez Gene: 104282   Ensembl: ENSG000001537747   OMIM: 6081085   UniProtKB: Q9UEE93   

Export aliases for CFDP1 gene to outside databases

Previous GC identifers: GC16M066257 GC16M076288 GC16M075066 GC16M075107 GC16M073885 GC16M061078


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

GeneCards Summary for CFDP1 Gene: 
CFDP1 (craniofacial development protein 1) is a protein-coding gene. Diseases associated with CFDP1 include williams-beuren syndrome, and retinoblastoma. GO annotations related to this gene include molecular_function.

UniProtKB/Swiss-Prot: CFDP1_HUMAN, Q9UEE9
Function: May play a role during embryogenesis (By similarity)

Gene Wiki entry for CFDP1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CFDP1 gene promoter:
         FOXF2   AML1a   FOXO3   LCR-F1   FOXO3b   COMP1   FOXO3a   IRF-7A   Chx10   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCFDP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CFDP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CFDP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22.2-q22.3   Ensembl cytogenetic band:  16q23.1   HGNC cytogenetic band: 16q22.2-q22.3

CFDP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CFDP1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M075327:  view genomic region     (about GC identifiers)

Start:
75,327,596 bp from pter      End:
75,467,387 bp from pter
Size:
139,792 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: CFDP1_HUMAN, Q9UEE9 (See protein sequence)
Recommended Name: Craniofacial development protein 1  
Size: 299 amino acids; 33593 Da
Secondary accessions: O00393 O00404 Q9UEF0 Q9UEF1 Q9UEF8
Alternative splicing: 2 isoforms:  Q9UEE9-1   Q9UEE9-2   

Explore the universe of human proteins at neXtProt for CFDP1: NX_Q9UEE9

Explore proteomics data for CFDP1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by CK2 (casein kinase II) in vitro
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UEE9

  • CFDP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CFDP1 Protein Expression
    REFSEQ proteins: NP_006315.1  
    ENSEMBL proteins: 
     ENSP00000283882   ENSP00000462862   ENSP00000455564  

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    Cloud-Clone Corp. Proteins for CFDP1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    CFDP1 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
    2 InterPro protein domains:
     IPR027124 Swc5/CFDP
     IPR011421 BCNT-C

    Graphical View of Domain Structure for InterPro Entry Q9UEE9

    ProtoNet protein and cluster: Q9UEE9

    UniProtKB/Swiss-Prot: CFDP1_HUMAN, Q9UEE9
    Similarity: Contains 1 BCNT-C domain


    CFDP1 for domains           About GeneDecksing


    (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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CFDP1_HUMAN, Q9UEE9
    Function: May play a role during embryogenesis (By similarity)

         Genatlas biochemistry entry for CFDP1:
    craniofacial development protein 1,predominantly expressed in brain and moderatly in heart,liver and
    lung,teeth,salivary gland and periosteum of developing bones,homolog to mouse Cp27 and bovine BCNT

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    CFDP1 for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidCFDP1 3' UTR sequence
    Inhib. RNA
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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 CFDP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/11 Interacting proteins for CFDP1 (Q9UEE92, 3 ENSP000002838824) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840222, 3MINT-61717 I2D: score=3 
    CSNK2A1P684003, ENSP000002172444I2D: score=2 STRING: ENSP00000217244
    EWSR1Q018443, ENSP000003810314I2D: score=3 STRING: ENSP00000381031
    UBCENSP000003448184STRING: ENSP00000344818
    RUVBL1ENSP000003182974STRING: ENSP00000318297
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0007275multicellular organismal development IEA--
    GO:0008150biological_process ND--
    GO:0008360regulation of cell shape IEA--
    GO:0042127regulation of cell proliferation IEA--

    CFDP1 for ontologies           About GeneDecksing



    (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 CFDP1

    Search CenterWatch for drugs/clinical trials and news about CFDP1

    (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 CFDP1 gene: 
    NM_006324.2  

    Unigene Cluster for CFDP1:

    Craniofacial development protein 1
    Hs.461361  [show with all ESTs]
    Unigene Representative Sequence: BC000991
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000570103 ENST00000283882(uc002fdy.3 uc002fdz.3) ENST00000564793
    ENST00000562602 ENST00000569341 ENST00000570279 ENST00000566901(uc002fea.1)
    ENST00000565646 ENST00000564286 ENST00000566254
    miRNA
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    hsa-miR-23b hsa-miR-130a* hsa-miR-23a hsa-miR-23c
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    Inhib. RNA
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    Additional mRNA sequence: 

    AB009285.1 AK226031.1 AK313948.1 BC000991.2 BT009819.1 CR542111.1 D85939.1 D86549.1 

    17 DOTS entries:

    DT.100027142  DT.453106  DT.120669650  DT.92037108  DT.100875855  DT.95347973  DT.100842552  DT.70100464 
    DT.95245973  DT.86840094  DT.99999924  DT.100688924  DT.100866346  DT.316847  DT.95238325  DT.95347938 
    DT.99983581 

    24/222 AceView cDNA sequences (see all 222):

    BM810721 AA470396 BM691836 BM424006 BU729554 BM853703 H21780 AI298166 
    BC000991 BU685668 BU195487 BM562105 BQ675826 BU688100 BU165784 CA423098 
    AI802305 D85939 BU682201 CR542111 CR626586 CR622718 AI460026 AB009285 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for CFDP1 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c
    SP1:                                                  -     -     -     -           -                     
    SP2:                                                  -                                                   
    SP3:                                                                                                      
    SP4:                                                                                                      
    SP5:        -                                                                                             


    ECgene alternative splicing isoforms for CFDP1

    (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

    CFDP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCAGCCTTT
    CFDP1 Expression
    About this image


    See CFDP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CFDP1

    SOURCE GeneReport for Unigene cluster: Hs.461361

    UniProtKB/Swiss-Prot: CFDP1_HUMAN, Q9UEE9
    Tissue specificity: Ubiquitous

        SABiosciences Expression via Pathway-Focused PCR Array including CFDP1: 
              Apoptosis 384HT in human mouse rat

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    (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 animals and fungi.

    Orthologs for CFDP1 gene from 8/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cfdp11 , 5 craniofacial development protein 11, 5 85.2(n)1
    84.07(a)1
      8 (57.98 cM)5
    238371  NM_011801.11  NP_035931.11 
     1117684735 
    chicken
    (Gallus gallus)
    Aves CFDP11 craniofacial development protein 1 65.38(n)
    60.14(a)
      374073  NM_001001189.1  NP_001001189.1 
    lizard
    (Anolis carolinensis)
    Reptilia CFDP16
    Uncharacterized protein
    53(a)
    1 ↔ 1
    GL343751.1(23468-42334)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.108162 Transcribed sequence with weak similarity to protein refNP_006315.1 (H.sapiens) craniofacial development protein 1; phosphoprotein (Bucentaur) [Homo sapiens] less 75.67(n)    142007297 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.293842 Transcribed sequence with weak similarity to protein refNP_006315.1 (H.sapiens) craniofacial development protein 1; phosphoprotein (Bucentaur) [Homo sapiens] less 74.63(n)    BI887284.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Yeti1 CG40218-PA 49.04(n)
    38.22(a)
      7354404  NM_001144065.1  NP_001137537.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F39H11.16
    Protein F39H11.1
    29(a)
    1 ↔ 1
    I(8696601-8698137)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SWC51 Swc5p 42.84(n)
    31.56(a)
      852532   NP_009790.3 


    ENSEMBL Gene Tree for CFDP1 (if available)
    TreeFam Gene Tree for CFDP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/3573 SNPs in CFDP1 are shown (see all 3573)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs30436501,2
    C--61088509(-) AAGAA-/AGAGAGA 1 -- int1 trp31Minor allele frequency- AG:0.00NA 2
    rs586921801,2
    C--61184387(+) AAAAA-/A/AA  
            
    GAAAA
    1 -- int11NA 2
    rs1908517071,2
    --75327120(+) GAAGTC/TTGAAA 1 -- int10--------
    rs1493018731,2
    --75327232(+) CTTTTC/GTTTGG 1 -- int10--------
    rs779110551,2
    F--75327237(+) CTTTGG/AGAAGA 1 -- int11Minor allele frequency- A:0.07WA 118
    rs1834040621,2
    --75327243(+) GAAGAC/GGAAAA 1 -- int10--------
    rs1463244401,2
    --75327337(+) GAGAAA/TGAGAG 1 -- int10--------
    rs121028871,2
    C,F--75327376(+) GAACAA/CGCTGC 1 -- int11Minor allele frequency- C:0.04WA 118
    rs176057231,2
    C,F,H--75327382(+) GCTGCG/AAAGGG 1 -- int19Minor allele frequency- A:0.04NA NS EA WA 756
    rs99213301,2
    C,F,H--75327401(+) TTCCAG/ATCACT 1 -- int118Minor allele frequency- A:0.18NS EA NA WA 2220

    HapMap Linkage Disequilibrium report for CFDP1 (75327596 - 75467387 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/23 variations for CFDP1 (see all 23):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2658846CNV Deletion23128226
    nsv820364CNV Deletion20802225
    esv2675348CNV Deletion23128226
    esv2664082CNV Deletion23128226
    esv2714708CNV Deletion23290073
    esv2422358CNV Duplication17116639
    nsv1880CNV Insertion18451855
    nsv1879CNV Insertion18451855
    nsv525466CNV Loss19592680
    nsv512445CNV Loss21212237

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    (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: 608108    OMIM disorders: --

    2 diseases for CFDP1:    About MalaCards
    williams-beuren syndrome    retinoblastoma


    CFDP1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CFDP1
    Human Genome Epidemiology (HuGE) Navigator: CFDP1 (1 document)

    Export disorders for CFDP1 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 CFDP1 gene, integrated from 9 sources (see all 27):
    (articles sorted by number of sources associating them with CFDP1)
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    1. Existence of a bovine LINE repetitive insert that appears in the cDNA of bovine protein BCNT in ruminant, but not in human, genomes. (PubMed id 9602175)1, 2, 3, 9 Takahashi I.... Iwashita S. (1998)
    2. An Alu-linked repetitive sequence corresponding to 280 amino acids is expressed in a novel bovine protein, but not in its human homologue. (PubMed id 9006920)1, 2, 3 Nobukuni T.... Iwashita S. (1997)
    3. Genome-wide association and large-scale follow up iden tifies 16 new loci influencing lung function. (PubMed id 21946350)1, 4 Soler Artigas M....Tobin M.D. (2011)
    4. Fine mapping and association studies of a high-densit y lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian su bjects. (PubMed id 19844255)1, 4 Dastani Z....Genest J. (2010)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. CP27 function is necessary for cell survival and differentiation during tooth morphogenesis in organ culture. (PubMed id 11992732)1, 3 Diekwisch T.G. and Luan X. (2002)
    7. Partial nuclear localization of a bovine phosphoprotein, BCNT, that includes a region derived from a LINE repetitive sequence in Ruminantia. (PubMed id 10350657)1, 2 Iwashita S.... Hashimoto K. (1999)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Identification of the BCAR1-CFDP1-TMEM170A locus as a determinant of carotid intima-media thickness and coronary artery disease risk. (PubMed id 23152477)1 Gertow K....Hamsten A. (2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10428 HGNC: 1873 AceView: CFDP1 Ensembl:ENSG00000153774 euGenes: HUgn10428
    ECgene: CFDP1 H-InvDB: CFDP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CFDP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CFDP1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CFDP1 gene:
    Search GeneIP for patents involving CFDP1

    GeneCards and IP:
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