Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CFDP1 Gene

Aliases for CFDP1 Gene

  • Craniofacial Development Protein 1 2 3 5
  • Bucentaur 2 3 4
  • Centromere Protein 29 2 3
  • CENP-29 3 4
  • BCNT 3 4
  • Phosphoprotein (Bucentaur) 3
  • CP27 3
  • SWC5 3
  • Yeti 3
  • P97 3

External Ids for CFDP1 Gene

Previous GeneCards Identifiers for CFDP1 Gene

  • GC16M066257
  • GC16M076288
  • GC16M075066
  • GC16M075107
  • GC16M073885
  • GC16M061078

Summaries for CFDP1 Gene

GeneCards Summary for CFDP1 Gene

CFDP1 (Craniofacial Development Protein 1) is a Protein Coding gene.

UniProtKB/Swiss-Prot for CFDP1 Gene

  • May play a role during embryogenesis.

Gene Wiki entry for CFDP1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFDP1 Gene

Genomics for CFDP1 Gene

Regulatory Elements for CFDP1 Gene

Enhancers for CFDP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G075052 1.6 Ensembl ENCODE dbSUPER 13.4 +379.2 379195 3.8 FOXA2 PKNOX1 ARID4B SIN3A FEZF1 YY1 SLC30A9 ZNF766 CBX5 ZNF416 ENSG00000259972 ENSG00000260884 RPL21P118 ZNRF1 CFDP1 ENSG00000214331 WDR59 ENSG00000247033
GH16G075303 1.6 Ensembl ENCODE dbSUPER 13.3 +126.0 126037 7.9 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ENSG00000261783 BCAR1 CFDP1 RNU6-758P ENSG00000259999
GH16G074740 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +690.3 690322 5.1 FOXA2 ARID4B SIN3A ZNF2 ZNF143 FOS ZNF548 KLF13 ZNF263 SP3 FA2H ENSG00000214331 ENSG00000259972 RPL21P118 ENSG00000260884 MLKL CFDP1 RNU6-237P RFWD3
GH16G075375 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +54.9 54917 6.3 PKNOX1 SIN3A YBX1 BRCA1 GATA2 CBX5 ELK1 FOS JUNB TBX21 ENSG00000261783 ENSG00000252122 RNU6-758P CFDP1 BCAR1 ENSG00000259999
GH16G075287 1.4 Ensembl ENCODE dbSUPER 11 +144.6 144572 2.3 HDGF PKNOX1 KLF17 GATA2 FOS IKZF2 TBX21 PRDM6 SMARCA4 MYNN ENSG00000261783 CFDP1 RNU6-758P ENSG00000259999
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CFDP1 on UCSC Golden Path with GeneCards custom track

Promoters for CFDP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000088003 -288 2401 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263

Genomic Location for CFDP1 Gene

Chromosome:
16
Start:
75,293,698 bp from pter
End:
75,433,512 bp from pter
Size:
139,815 bases
Orientation:
Minus strand

Genomic View for CFDP1 Gene

Genes around CFDP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFDP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFDP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFDP1 Gene

Proteins for CFDP1 Gene

  • Protein details for CFDP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UEE9-CFDP1_HUMAN
    Recommended name:
    Craniofacial development protein 1
    Protein Accession:
    Q9UEE9
    Secondary Accessions:
    • O00393
    • O00404
    • Q9UEF0
    • Q9UEF1
    • Q9UEF8

    Protein attributes for CFDP1 Gene

    Size:
    299 amino acids
    Molecular mass:
    33593 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CFDP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFDP1 Gene

Post-translational modifications for CFDP1 Gene

Other Protein References for CFDP1 Gene

No data available for DME Specific Peptides for CFDP1 Gene

Domains & Families for CFDP1 Gene

Protein Domains for CFDP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CFDP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CFDP1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CFDP1 Gene

Function for CFDP1 Gene

Molecular function for CFDP1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot Function:
May play a role during embryogenesis.

Gene Ontology (GO) - Molecular Function for CFDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with CFDP1: view

Phenotypes for CFDP1 Gene

genes like me logo Genes that share phenotypes with CFDP1: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CFDP1 Gene

Localization for CFDP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFDP1 Gene

Chromosome, centromere, kinetochore.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CFDP1 gene
Compartment Confidence
nucleus 5
cytosol 1

Gene Ontology (GO) - Cellular Components for CFDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore IEA --
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005575 cellular_component ND --
GO:0005654 nucleoplasm IDA --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with CFDP1: view

Pathways & Interactions for CFDP1 Gene

SuperPathways for CFDP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CFDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007275 multicellular organism development IEA --
GO:0008150 biological_process ND --
GO:0008360 regulation of cell shape IEA --
GO:0042127 regulation of cell proliferation IEA --
genes like me logo Genes that share ontologies with CFDP1: view

No data available for Pathways by source and SIGNOR curated interactions for CFDP1 Gene

Transcripts for CFDP1 Gene

Unigene Clusters for CFDP1 Gene

Craniofacial development protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CFDP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c
SP1: - - - - -
SP2: -
SP3:
SP4:
SP5: -
SP6: - -
SP7:

Relevant External Links for CFDP1 Gene

GeneLoc Exon Structure for
CFDP1
ECgene alternative splicing isoforms for
CFDP1

Expression for CFDP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CFDP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CFDP1 Gene

This gene is overexpressed in Lung (15.2), Fetal Brain (14.0), and Peripheral blood mononuclear cells (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CFDP1 Gene



Protein tissue co-expression partners for CFDP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CFDP1 Gene:

CFDP1

SOURCE GeneReport for Unigene cluster for CFDP1 Gene:

Hs.461361

mRNA Expression by UniProt/SwissProt for CFDP1 Gene:

Q9UEE9-CFDP1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for CFDP1 Gene

  • Nervous system(4.4)
  • Spleen(2.2)
  • Kidney(2.1)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with CFDP1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFDP1 Gene

Orthologs for CFDP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CFDP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CFDP1 34 35
  • 99.78 (n)
dog
(Canis familiaris)
Mammalia P97 35
  • 94 (a)
OneToOne
CFDP1 34
  • 91.86 (n)
cow
(Bos Taurus)
Mammalia CFDP1 34 35
  • 89.23 (n)
rat
(Rattus norvegicus)
Mammalia Cfdp1 34
  • 84.63 (n)
mouse
(Mus musculus)
Mammalia Cfdp1 34 16 35
  • 83.39 (n)
oppossum
(Monodelphis domestica)
Mammalia CFDP1 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CFDP1 35
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves CFDP1 34 35
  • 64.41 (n)
lizard
(Anolis carolinensis)
Reptilia CFDP1 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cfdp1 34
  • 61.02 (n)
Str.10816 34
zebrafish
(Danio rerio)
Actinopterygii rltpr 35 34
  • 58.02 (n)
OneToOne
Dr.29384 34
fruit fly
(Drosophila melanogaster)
Insecta Yeti 35
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F39H11.1 35
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SWC5 35
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7012 35
  • 39 (a)
OneToOne
Species where no ortholog for CFDP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CFDP1 Gene

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

Paralogs for CFDP1 Gene

No data available for Paralogs for CFDP1 Gene

Variants for CFDP1 Gene

Sequence variations from dbSNP and Humsavar for CFDP1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000016793 -- 75,433,065(+) GGGGG(A/C)GGCGG intron-variant
rs1000028135 -- 75,362,928(+) GTGGC(A/C/G)GATCT intron-variant
rs1000058442 -- 75,332,400(+) GTGGA(A/G)GTTGC intron-variant
rs1000062648 -- 75,362,645(+) TTTCC(A/T)CTTCC intron-variant
rs1000087704 -- 75,401,225(+) AAATC(A/G)AGACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CFDP1 Gene

Variant ID Type Subtype PubMed ID
dgv163e215 CNV deletion 23714750
dgv490n67 CNV gain+loss 20364138
esv2422358 CNV duplication 17116639
esv2658846 CNV deletion 23128226
esv2664082 CNV deletion 23128226
esv2675348 CNV deletion 23128226
esv2714708 CNV deletion 23290073
esv2758657 CNV gain 17122850
esv2762265 CNV loss 21179565
esv32560 CNV loss 17666407
esv3582321 CNV loss 25503493
esv3639088 CNV loss 21293372
esv3639089 CNV loss 21293372
esv3639090 CNV loss 21293372
esv3639091 CNV loss 21293372
esv991799 CNV gain 20482838
nsv103341 CNV deletion 16902084
nsv1062023 CNV loss 25217958
nsv1063718 CNV gain 25217958
nsv1065995 CNV loss 25217958
nsv1070774 CNV deletion 25765185
nsv1116160 CNV deletion 24896259
nsv1121917 CNV deletion 24896259
nsv1879 CNV insertion 18451855
nsv1880 CNV insertion 18451855
nsv478253 CNV novel sequence insertion 20440878
nsv512445 CNV loss 21212237
nsv516019 CNV loss 19592680
nsv521596 CNV loss 19592680
nsv523405 CNV loss 19592680
nsv525232 CNV gain 19592680
nsv525466 CNV loss 19592680
nsv820364 CNV deletion 20802225
nsv827744 CNV gain 20364138
nsv827747 CNV loss 20364138
nsv833282 CNV gain+loss 17160897
nsv833283 CNV loss 17160897

Variation tolerance for CFDP1 Gene

Residual Variation Intolerance Score: 66.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.30; 25.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CFDP1 Gene

Human Gene Mutation Database (HGMD)
CFDP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFDP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFDP1 Gene

Disorders for CFDP1 Gene

Relevant External Links for CFDP1

Genetic Association Database (GAD)
CFDP1
Human Genome Epidemiology (HuGE) Navigator
CFDP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CFDP1

No disorders were found for CFDP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CFDP1 Gene

Publications for CFDP1 Gene

  1. Existence of a bovine LINE repetitive insert that appears in the cDNA of bovine protein BCNT in ruminant, but not in human, genomes. (PMID: 9602175) Takahashi I. … Iwashita S. (Gene 1998) 2 3 4 22 64
  2. An Alu-linked repetitive sequence corresponding to 280 amino acids is expressed in a novel bovine protein, but not in its human homologue. (PMID: 9006920) Nobukuni T. … Iwashita S. (J. Biol. Chem. 1997) 2 3 4 64
  3. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. (PMID: 21946350) Soler Artigas M. … Tobin M.D. (Nat. Genet. 2011) 3 46 64
  4. Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. (PMID: 19844255) Dastani Z. … Genest J. (Eur. J. Hum. Genet. 2010) 3 46 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for CFDP1 Gene

Sources for CFDP1 Gene

Content
Loading form....