Aliases for CFDP1 Gene

Aliases for CFDP1 Gene

  • Craniofacial Development Protein 1 2 3 4 5
  • Centromere Protein 29 2 3
  • Bucentaur 2 4
  • 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
  • GC16M075327
  • 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 Lagophthalmos and Pthirus Pubis Infestation.

UniProtKB/Swiss-Prot Summary for CFDP1 Gene

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 , Rfam classification and piRNA Summary for CFDP1 Gene

Genomics for CFDP1 Gene

GeneHancer (GH) Regulatory Elements for CFDP1 Gene

Promoters and enhancers for CFDP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFDP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CFDP1 gene promoter:
  • AML1a
  • Chx10
  • COMP1
  • En-1
  • FOXF2
  • FOXO3
  • FOXO3a
  • FOXO3b
  • IRF-7A
  • LCR-F1

Genomic Locations for CFDP1 Gene

Genomic Locations for CFDP1 Gene
139,815 bases
Minus strand
139,792 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 Lys245
  • 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:
  • Bucentaur (CFDP1_HUMAN)
genes like me logo Genes that share domains with CFDP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CFDP1 Gene

Function for CFDP1 Gene

Molecular function for CFDP1 Gene

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

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFDP1

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 3
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (1)
See all subcellular structures

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:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with CFDP1: view

Pathways & Interactions for CFDP1 Gene

PathCards logo

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

mRNA/cDNA for CFDP1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFDP1

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, 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 32
  • 99.78 (n)
(Canis familiaris)
Mammalia P97 33
  • 94 (a)
CFDP1 32
  • 91.86 (n)
(Bos Taurus)
Mammalia CFDP1 33 32
  • 89.23 (n)
(Rattus norvegicus)
Mammalia Cfdp1 32
  • 84.63 (n)
(Mus musculus)
Mammalia Cfdp1 17 33 32
  • 83.39 (n)
(Monodelphis domestica)
Mammalia CFDP1 33
  • 72 (a)
(Ornithorhynchus anatinus)
Mammalia CFDP1 33
  • 46 (a)
(Gallus gallus)
Aves CFDP1 33 32
  • 64.41 (n)
(Anolis carolinensis)
Reptilia CFDP1 33
  • 55 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cfdp1 32
  • 61.02 (n)
Str.10816 32
(Danio rerio)
Actinopterygii rltpr 33 32
  • 58.02 (n)
Dr.29384 32
fruit fly
(Drosophila melanogaster)
Insecta Yeti 33
  • 30 (a)
(Caenorhabditis elegans)
Secernentea F39H11.1 33
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SWC5 33
  • 21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7012 33
  • 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)
Evolutionary constrained regions (ECRs) for CFDP1: view image

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 Variation AA Info Type
rs1000016793 -- 75,433,065(-) C/A/T intron_variant
rs1000028135 -- 75,362,928(-) A/C/G genic_downstream_transcript_variant, intron_variant
rs1000058442 -- 75,332,400(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000062648 -- 75,362,645(-) T/A genic_downstream_transcript_variant, intron_variant
rs1000087704 -- 75,401,225(-) A/C/G 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)

Additional Variant Information for CFDP1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CFDP1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
pthirus pubis infestation
  • crabs
lice infestation
  • infestation by pediculus
parasitic ectoparasitic infectious disease
  • ectoparasitism
- elite association - COSMIC cancer census association via MalaCards
Search CFDP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CFDP1

Genetic Association Database
Human Genome Epidemiology 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 23 56
  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 56
  3. The human Cranio Facial Development Protein 1 (Cfdp1) gene encodes a protein required for the maintenance of higher-order chromatin organization. (PMID: 28367969) Messina G … Dimitri P (Scientific reports 2017) 2 3 56
  4. 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 43 56
  5. 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 43 56

Products for CFDP1 Gene

Sources for CFDP1 Gene