CFDP1 - craniofacial development protein 1 Gene

Homo sapiens

Also known as p97; BCNT; CP27; SWC5; Yeti; CENP-29; BUCENTAUR

Gene ID: 10428 | Gene type: protein coding

About CFDP1

Cytogenetic location: 16q23.1 Genomic coordinates (GRCh38): 16:75,293,710-75,433,503 (from NCBI)

This gene has 11 transcripts (splice variants) and 378 orthologues. Ubiquitous expression in testis (RPKM 25.6), kidney (RPKM 23.5) and 25 other tissues.

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]

CFDP1 Products(1)

mRNA	Protein	Name
NM_006324.3	NP_006315.1	craniofacial development protein 1

CFDP1 Protein Structure

BCNT

0
100
200
299 a.a.

Protein Preferred Names

Protein Names

craniofacial development protein 1

centromere protein 29

Related Diseases

Diseases

Alias

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02560	CFDP1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CFDP1	MGD	MGI:1344403
Felis catus	CFDP1	VGNC	VGNC:60827
Rattus norvegicus	CFDP1	RGD	RGD:735080
Macaca mulatta	CFDP1	VGNC	VGNC:71018
Canis familiaris	CFDP1	VGNC	VGNC:39175

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