CFDP1 (craniofacial development protein 1)

Gene Basic Information

Gene Basic Information

symbol:
CFDP1
locus group:
protein-coding gene
location:
16q23.1
gene_family:
alias symbol:
BCNT|p97|CP27|SWC5|Yeti|CENP-29
alias name:
Bucentaur|centromere protein 29
entrez id:
10428
ensembl gene id:
ENSG00000153774
ucsc gene id:
uc002fdy.4
refseq accession:
NM_006324
hgnc_id:
HGNC:1873
approved reserved:
1999-12-09

Chromosome Location

Chromosome Location

16q23.1

Gene Summary

Gene Summary

CFDP1（Craniofacial Development Protein 1）是一种参与胚胎发育和细胞功能调控的基因，尤其在颅面部发育中发挥重要作用。它编码的蛋白质属于BAF（BRG1/BRM-associated factor）染色质重塑复合物的一部分，该复合物通过调节染色质结构影响基因表达。CFDP1在多种组织中表达，包括骨骼、肌肉和神经系统，其主要功能涉及细胞增殖、分化和组织形态发生。该基因的突变可能导致颅面部畸形或其他发育异常，例如腭裂或下颌发育不全，因为其功能受损会影响胚胎期颅面结构的正常形成。CFDP1属于BAF复合物相关基因家族，该家族成员共同参与染色质重构和转录调控，通过动态调整DNA可及性影响发育相关基因的表达。若CFDP1过表达，可能干扰BAF复合物的平衡，导致细胞分化异常或增殖失控，甚至与某些癌症（如肉瘤）的发生相关；而表达降低则可能引发发育障碍，如颅骨融合缺陷或神经管闭合异常。此外，CFDP1与WNT、BMP等信号通路存在交叉作用，其表达异常可能间接影响这些通路的功能，进一步干扰组织稳态。目前研究发现CFDP1的某些变异与非综合征型颅缝早闭症相关，但其具体机制仍需深入探索。该基因在进化上高度保守，提示其在发育过程中的基础性作用。

ChineseEnglish

None

OMIM entry for CFDP1     Wikipedia entry for CFDP1

Gene Sequence

Gene Sequence

Nucleotide sequence of CFDP1:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MEEFDSEDFS TSEEDEDYVP SGGEYSEDDV NELVKEDEVD
41GEEQTQKTQG KKRKAQSIPA RKRRQGGLSL EEEEEEDANS
81 ESEGSSSEE EDDAAEQEKG IGSEDARKKK EDELWASFLN
121DVGPKSKVPP STQVKKGEET EETSSSKLLV KAEELEKPKE
161T EKVKITKV FDFAGEEVRV TKEVDATSKE AKSFFKQNEK
201EKPQANVPSA LPSLPAGSGL KRSSGMSSLL GKIGAKKQKM
241ST LEKSKLD WESFKEEEGI GEELAIHNRG KEGYIERKAF
281LDRVDHRQFE IERDLRLSKM KP
结构预测来自 AlphaFold DB（UniProt: Q9UEE9），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

Gene Variants

Gene Variants

SNP variants of CFDP1:           Showing partial SNPs
rs6624       rs6625       rs166012       rs166013       rs173526       rs181783       rs185052       rs187435       rs187436       rs247423       rs247424       rs247425       rs247426       rs247427       rs247428       rs247429       rs247430      

Gene Expression

Gene Expression

Tissue expression of CFDP1:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
CACAAGTTAAGAAAGGAGAGGA
57
TTAGGTTTCTCTAGCTCTTCTG
57
GGATTGGTGAAGAACTGGC
58
GCTTTCCGTTCAATGTACC
57
ATGCCTAGAGATTGATCTGC
57
TGGTTCTGAAATCGAACCA
57
TACTGTAGCCTTCAATTCCTG
57
ATACTCTCCACCTGTAGTTCC
58
TTCAGCTCTGCCATCACTC
59
CCTGGCAACTCTTAATCACC
58
TTACTGTAGCCTTCAATTCCTG
58
TACTCTCCACCTGTAGTTCC
57
CACAAGTTAAGAAAGGAGAGGAG
58
TAGGTTTCTCTAGCTCTTCTGC
59
GGTACATTGAACGGAAAGC
57
CGCTCAATTTCAAACTGCC
58
TGCCTAGAGATTGATCTGCT
58
TGGTTCTGAAATCGAACCAG
58
CAGGCTAATGTTCCTTCAGC
59
TTTAAATGACACATCCTGACCC
58

Transcription Factors

Transcription Factors

      No data available

Gene Ontology

Subcellular localization of CFDP1 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for CFDP1:

GO ID
Protein
Source DB
GO:0000777
Q9UEE9 (UniProtKB)
IEA
GO:0003674
Q9UEE9 (UniProtKB)
ND
GO:0005575
Q9UEE9 (UniProtKB)
ND
GO:0007155
Q9UEE9 (UniProtKB)
IEA
GO:0007275
Q9UEE9 (UniProtKB)
IEA
GO:0008150
Q9UEE9 (UniProtKB)
ND
GO:0008360
Q9UEE9 (UniProtKB)
IEA
GO:0042127
Q9UEE9 (UniProtKB)
IEA
GO:2000270
Q9UEE9 (UniProtKB)
IEA

Related microRNA

Related microRNA

microRNAs potentially regulating CFDP1:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
MINT
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Pulmonary function (finding) 0.12 2 1 GWASCAT
Myopathy 0.001357209 5 0 BeFree
melanoma 0.001085767 4 0 BeFree
Frontotemporal dementia 0.001085767 4 0 BeFree
Pick Disease of the Brain 0.001085767 4 0 BeFree
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 0.000814326 3 0 BeFree
Cervix carcinoma 0.000814326 3 0 BeFree
Coronary Artery Disease 0.000542884 2 2 BeFree
Osteitis Deformans 0.000542884 2 0 BeFree
multiple pathologies 0.000271442 1 0 BeFree

Related Publications

Related Publications

Structural mechanism of histone H2A.Z exchange by human SRCAP-CFDP1 holoenzyme.
Park G, Wu C, Louder RK Sci Adv IF: 12.5 2026-07-31
Genetic determinants of childhood blood pressure and heart rate in relation to adult health outcomes: the consortium of childhood blood pressure.
Xie T, Ani A, Vaez A, Nolte IM, Su S, Ishikuro M, Wang S, Zhang W, Soares AG, Motazedi E, Calas L, Ronkainen J, Pedersen CT, Lu X, Stinson SE, Felix JF, Stankevic E, Wang CA, Thiering E, Fernández D, Calvo-Serra B, Stathopoulou MG, Fore R, Kumar A, Tuhkanen J, Bilbao JR, Ibarluzea J, Isaacs A, Fonvig CE, Rivadeneira F, Lund MAV, Holm LA, van der Most PJ, Riese H, Narita A, Tamiya G, Flexeder C, Wiersma R, Argoty-Pantoja AD, Vinding R, Hansen TW, Kümler T, Estarlich M, Bustamante M, Yuan WL, Boland-Augé A, Deleuze JF, Petrelis AM, Rifas-Shiman S, Kajantie E, Fernandez-Jimenez N, Santa-Marina L, Arts ICW, Lahti J, Strandberg T, Kull I, Bergström A, Hivert MF, Bønnelykke K, Kuriyama S, Beilin LJ, Mori TA, Hartman CA, Grarup N, Thijs C, Räikkönen K, Melén E, Oken E, Visvikis-Siest S, Gützkow KB, Grazuleviciene R, Heude B, Chatzi L, Vrijheid M, Standl M, Vrijkotte T, Pennell CE, Oldehinkel AJ, Hansen T, Jaddoe VWV, Holm JC, Sebert S, Timpson NJ, Obara T, Wang X, Lawlor DA, Corpeleijn E, Ahluwalia TS, Snieder H Eur Heart J IF: 45.3 2026-04-27
Identification of key biomarkers for myocardial infarction by multi-omics analysis and machine learning.
Wu J, Yang Y, Huang J, Li X, Ma Q, Chen H, Wang Y, Lama E, Qiu Z, Zhou Z Front Immunol IF: 7.0 None
Genetics-Informed Mapping Identifies a CRIM1-Associated Endocardial Inflammatory Remodeling State in Acute Myocardial Infarction.
Ruan R, Xu X, Liu Q, Xiang F, Luo L, Shi L, Yang Q Med Sci Monit IF: 1.585 2026-08-28
Genome-wide association study reveals CBX7 as a novel susceptibility gene associated with primary spontaneous pneumothorax in the Chinese Han population.
Xu L, Ma D, Wang B, Cai M, Wu Z, Cheng S, Cai M, Ding Y, Zhang X, Sun Q, Niu F, Wu H, Dai Z, Min H, Wen Y, Song S, Zou W, Wang C, Li S, Wang J, Shen J, Wang X, Lin A, Cao X, Yuan X, Xia C, Guo Z, Feng Z, Du R, Qiao J, Gao Q, Shi B, Mao S, Chen T, Ren H, Ye M, Hu X, Hu P, Xu Z, Chen S, Qiu Y, Wang Y, Gao Q, Zhu C, Zhu Z, Yi L Eur Respir J IF: 23.8 2025-09-00
ChIP-Chip Identifies SEC23A, CFDP1, and NSD1 as TFII-I Target Genes in Human Neural Crest Progenitor Cells.
Makeyev Aleksandr V, Bayarsaihan Dashzeveg Cleft Palate Craniofac J IF: 1.7 2016-04-22
Functional Analysis of a Carotid Intima-Media Thickness Locus Implicates BCAR1 and Suggests a Causal Variant.
Boardman-Pretty Freya, Smith Andrew J P, Cooper Jackie, Palmen Jutta, Folkersen Lasse, Hamsten Anders, Catapano Alberico L, Melander Olle, Price Jacqueline F, Kumari Meena, Deanfield John E, Kivimäki Mika, Gertow Karl, Baragetti Andrea, Norata Giuseppe Danilo, Humphries Steve E Circ Cardiovasc Genet IF: 0.000 2016-08-08

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