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CFDP1 craniofacial development protein 1 [ Homo sapiens (human) ]

Gene ID: 10428, updated on 5-Mar-2024

Summary

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Official Symbol
CFDP1provided by HGNC
Official Full Name
craniofacial development protein 1provided by HGNC
Primary source
HGNC:HGNC:1873
See related
Ensembl:ENSG00000153774 MIM:608108; AllianceGenome:HGNC:1873
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p97; BCNT; CP27; SWC5; Yeti; CENP-29; BUCENTAUR
Summary
Predicted to act upstream of or within several processes, including cell adhesion; negative regulation of fibroblast apoptotic process; and regulation of cell shape. Predicted to be located in kinetochore. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 25.6), kidney (RPKM 23.5) and 25 other tissues See more
Orthologs
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Genomic context

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See CFDP1 in Genome Data Viewer
Location:
16q23.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (75293710..75433503, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (81340442..81479377, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (75327608..75467401, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene BCAR1 scaffold protein, Cas family member Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75289517-75290056 Neighboring gene uncharacterized LOC105371344 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75290057-75290597 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75294897-75295696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75297293-75298090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75298091-75298888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7715 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7716 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7717 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7718 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75305973-75306511 Neighboring gene RNA, U6 small nuclear 758, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:75339050-75340249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75341536-75342036 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11128 Neighboring gene CFDP1 intron CAGE-defined high expression enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11129 Neighboring gene small nucleolar RNA SNORA76 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:75465381-75465580 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7719 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75467440-75468007 Neighboring gene tigger transposable element-derived protein 1-like Neighboring gene transmembrane protein 170A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75490353-75490854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11131 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:75498257-75498757

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. CFDP1 is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity. Formicola D, et al. HGG Adv, 2023 Jan 12. PMID 36425957, Free PMC Article
  2. CFDP1 promotes hepatocellular carcinoma progression through activating NEDD4/PTEN/PI3K/AKT signaling pathway. Zhou Y, et al. Cancer Med, 2023 Jan. PMID 35861040, Free PMC Article
  3. The human Cranio Facial Development Protein 1 (Cfdp1) gene encodes a protein required for the maintenance of higher-order chromatin organization. Messina G, et al. Sci Rep, 2017 Apr 3. PMID 28367969, Free PMC Article
  4. Mammalian Bcnt/Cfdp1, a potential epigenetic factor characterized by an acidic stretch in the disordered N-terminal and Ser250 phosphorylation in the conserved C-terminal regions. Iwashita S, et al. Biosci Rep, 2015 Jun 12. PMID 26182435, Free PMC Article
  5. CP27 function is necessary for cell survival and differentiation during tooth morphogenesis in organ culture. Diekwisch TG, et al. Gene, 2002 Apr 3. PMID 11992732

See all (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CFDP1 is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity.
    Title: CFDP1 is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity.
  2. CFDP1 promotes hepatocellular carcinoma progression through activating NEDD4/PTEN/PI3K/AKT signaling pathway.
    Title: CFDP1 promotes hepatocellular carcinoma progression through activating NEDD4/PTEN/PI3K/AKT signaling pathway.
  3. Our findings provide new insight into the chromatin functions and mechanisms of the CFDP1 protein and contribute to our understanding of the link between epigenetic regulation and the onset of human complex developmental disorders.
    Title: The human Cranio Facial Development Protein 1 (Cfdp1) gene encodes a protein required for the maintenance of higher-order chromatin organization.
  4. Overall, these findings highlight unanticipated evidences suggesting that homodimerization mediated by the BCNT domain is integral to the chromatin functions of BCNT proteins.
    Title: Expression of human Cfdp1 gene in Drosophila reveals new insights into the function of the evolutionarily conserved BCNT protein family.
  5. Bcnt/Cfdp1 is acetylated in vitro by CREB-binding protein (CBP) and four lysine residues including Lys(268) in BCNT-C are also acetylated in vivo, revealing a protein regulated at multiple levels.
    Title: Mammalian Bcnt/Cfdp1, a potential epigenetic factor characterized by an acidic stretch in the disordered N-terminal and Ser250 phosphorylation in the conserved C-terminal regions.
  6. This study identified rs4888378 in the BCAR1-CFDP1-TMEM170A locus as a novel genetic determinant of carotid intima-media thickness and coronary artery disease risk.
    Title: Identification of the BCAR1-CFDP1-TMEM170A locus as a determinant of carotid intima-media thickness and coronary artery disease risk.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.
  8. includes the region derived from a long interspersed nucleotide
    Title: [A novel type protein, Bcnt, that includes the region derived from a long interspersed nucleotide element].
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
EBI GWAS Catalog
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
EBI GWAS Catalog
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in chromatin remodeling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in fibroblast apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of fibroblast apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of cell shape IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of Swr1 complex IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cellular_component ND
No biological Data available
more info
  
located_in kinetochore IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
craniofacial development protein 1
Names
centromere protein 29
phosphoprotein (Bucentaur)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_006324.3 → NP_006315.1  craniofacial development protein 1

    See identical proteins and their annotated locations for NP_006315.1

    Status: VALIDATED

    Source sequence(s)
    AC009163, AW160432, BC000991, D86549
    Consensus CDS
    CCDS10916.1
    UniProtKB/Swiss-Prot
    O00393, O00404, Q9UEE9, Q9UEF0, Q9UEF1, Q9UEF8
    UniProtKB/TrEMBL
    B2R9W9
    Related
    ENSP00000283882.3, ENST00000283882.4
    Conserved Domains (1) summary
    pfam07572
    Location:222 → 295
    BCNT; Bucentaur or craniofacial development

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    75293710..75433503 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522814.3 → XP_011521116.1  craniofacial development protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011521116.1

    UniProtKB/TrEMBL
    A0A0H5APX3

  2. XM_047433504.1 → XP_047289460.1  craniofacial development protein 1 isoform X1

  3. XM_047433503.1 → XP_047289459.1  craniofacial development protein 1 isoform X1

  4. XM_011522815.3 → XP_011521117.1  craniofacial development protein 1 isoform X3

    See identical proteins and their annotated locations for XP_011521117.1

    UniProtKB/TrEMBL
    A0A0H5AUJ9

RNA

  1. XR_007064846.1 RNA Sequence

  2. XR_007064847.1 RNA Sequence

  3. XR_007064845.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    81340442..81479377 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379390.1 → XP_054235365.1  craniofacial development protein 1 isoform X2

    UniProtKB/TrEMBL
    A0A0H5APX3

  2. XM_054379389.1 → XP_054235364.1  craniofacial development protein 1 isoform X1

  3. XM_054379388.1 → XP_054235363.1  craniofacial development protein 1 isoform X1

  4. XM_054379387.1 → XP_054235362.1  craniofacial development protein 1 isoform X1

  5. XM_054379391.1 → XP_054235366.1  craniofacial development protein 1 isoform X3

    UniProtKB/TrEMBL
    A0A0H5AUJ9

RNA

  1. XR_008489043.1 RNA Sequence

  2. XR_008489047.1 RNA Sequence

  3. XR_008489044.1 RNA Sequence

  4. XR_008489046.1 RNA Sequence

  5. XR_008489045.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UEE9.1 GenPept UniProtKB/Swiss-Prot:Q9UEE9

Gene LinkOut

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