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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. Diseases associated with CFDP1 include Acute Stress Disorder.

UniProtKB/Swiss-Prot for CFDP1 Gene

  • May play a role during embryogenesis.

Gene Wiki entry for CFDP1 Gene

Additional gene information 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
GH16H075432 1.2 ENCODE 28 -0.2 -215 2.4 PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ENSG00000261783 CFDP1 GLG1 KARS RFWD3 ADAT1 TMEM231 ENSG00000274220
GH16H075303 1.7 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
GH16H075052 1.5 Ensembl ENCODE dbSUPER 13.5 +379.2 379195 3.8 FOXA2 ARID4B FEZF1 YY1 SLC30A9 ZNF766 GATA2 SP5 ZHX2 REST ENSG00000259972 ENSG00000260884 RPL21P118 ZNRF1 CFDP1 ENSG00000214331 WDR59 ENSG00000247033
GH16H075375 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +54.9 54917 6.3 PKNOX1 TBL1XR1 SIN3A BMI1 YBX1 RAD21 BATF BRCA1 RFX5 RCOR1 ENSG00000261783 ENSG00000252122 RNU6-758P CFDP1 BCAR1 ENSG00000259999
GH16H075322 1.1 Ensembl ENCODE dbSUPER 14 +110.1 110069 2.1 ZNF664 OSR2 PRDM6 RCOR1 PRDM10 FOS ZXDB SP7 CFDP1 BCAR1 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

Genomic Locations for CFDP1 Gene

Genomic Locations for CFDP1 Gene
139,815 bases
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:
    Recommended name:
    Craniofacial development protein 1
    Protein Accession:
    Secondary Accessions:
    • O00393
    • O00404
    • Q9UEF0
    • Q9UEF1
    • Q9UEF8

    Protein attributes for CFDP1 Gene

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

    Alternative splice isoforms for CFDP1 Gene


neXtProt entry for CFDP1 Gene

Post-translational modifications for CFDP1 Gene

  • Phosphorylated by CK2 (casein kinase II) in vitro.
  • Ubiquitination at Lys167 and posLast=245245
  • Modification sites at PhosphoSitePlus

Other Protein References for CFDP1 Gene

No data available for DME Specific Peptides for CFDP1 Gene

Domains & Families for CFDP1 Gene

Gene Families for CFDP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CFDP1 Gene


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 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.

Phenotypes From GWAS Catalog for CFDP1 Gene

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

Inhibitory RNA 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

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

Subcellular locations from the

Human Protein Atlas (HPA)

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

Drugs & Compounds for CFDP1 Gene

No Compound Related Data Available

Transcripts for CFDP1 Gene

Unigene Clusters for CFDP1 Gene

Craniofacial development protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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: -
SP5: -
SP6: - -

Relevant External Links for CFDP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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:


SOURCE GeneReport for Unigene cluster for CFDP1 Gene:


mRNA Expression by UniProt/SwissProt for CFDP1 Gene:

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

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
(Pan troglodytes)
Mammalia CFDP1 33 34
  • 99.78 (n)
(Canis familiaris)
Mammalia P97 34
  • 94 (a)
CFDP1 33
  • 91.86 (n)
(Bos Taurus)
Mammalia CFDP1 33 34
  • 89.23 (n)
(Rattus norvegicus)
Mammalia Cfdp1 33
  • 84.63 (n)
(Mus musculus)
Mammalia Cfdp1 33 16 34
  • 83.39 (n)
(Monodelphis domestica)
Mammalia CFDP1 34
  • 72 (a)
(Ornithorhynchus anatinus)
Mammalia CFDP1 34
  • 46 (a)
(Gallus gallus)
Aves CFDP1 33 34
  • 64.41 (n)
(Anolis carolinensis)
Reptilia CFDP1 34
  • 55 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cfdp1 33
  • 61.02 (n)
Str.10816 33
(Danio rerio)
Actinopterygii rltpr 33 34
  • 58.02 (n)
Dr.29384 33
fruit fly
(Drosophila melanogaster)
Insecta Yeti 34
  • 30 (a)
(Caenorhabditis elegans)
Secernentea F39H11.1 34
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SWC5 34
  • 21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7012 34
  • 39 (a)
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

Gene Tree for CFDP1 (if available)
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
nsv833283 CNV loss 17160897
nsv833282 CNV gain+loss 17160897
nsv827747 CNV loss 20364138
nsv827744 CNV gain 20364138
nsv820364 CNV deletion 20802225
nsv525466 CNV loss 19592680
nsv525232 CNV gain 19592680
nsv523405 CNV loss 19592680
nsv521596 CNV loss 19592680
nsv516019 CNV loss 19592680
nsv512445 CNV loss 21212237
nsv478253 CNV novel sequence insertion 20440878
nsv1880 CNV insertion 18451855
nsv1879 CNV insertion 18451855
nsv1121917 CNV deletion 24896259
nsv1116160 CNV deletion 24896259
nsv1070774 CNV deletion 25765185
nsv1065995 CNV loss 25217958
nsv1063718 CNV gain 25217958
nsv1062023 CNV loss 25217958
nsv103341 CNV deletion 16902084
esv991799 CNV gain 20482838
esv3639091 CNV loss 21293372
esv3639090 CNV loss 21293372
esv3639089 CNV loss 21293372
esv3639088 CNV loss 21293372
esv3582321 CNV loss 25503493
esv32560 CNV loss 17666407
esv2762265 CNV loss 21179565
esv2758657 CNV gain 17122850
esv2714708 CNV deletion 23290073
esv2675348 CNV deletion 23128226
esv2664082 CNV deletion 23128226
esv2658846 CNV deletion 23128226
esv2422358 CNV duplication 17116639
dgv490n67 CNV gain+loss 20364138
dgv163e215 CNV deletion 23714750

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for CFDP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CFDP1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
acute stress disorder
  • traumatic stress disorder
- elite association - COSMIC cancer census association via MalaCards
Search CFDP1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CFDP1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CFDP1: view

No data available for 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 60
  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 (The Journal of biological chemistry 1997) 2 3 4 60
  3. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. (PMID: 21946350) Soler Artigas M … Tobin MD (Nature genetics 2011) 3 45 60
  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 (European journal of human genetics : EJHG 2010) 3 45 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for CFDP1 Gene

Sources for CFDP1 Gene

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