CDC40 - cell division cycle 40 Gene

Also Known as EHB3; PCH15; PRP17; PRPF17

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51362

About CDC40

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:110,180,427-110,232,232 (from NCBI)

This gene has 7 transcripts (splice variants), 222 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 12.9), lymph node (RPKM 10.6) and 25 other tissues.

Summary

Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp17 protein, which functions in two different cellular processes: pre-mRNA splicing and cell cycle progression. It suggests that this protein may play a role in cell cycle progression. [provided by RefSeq, Jul 2008]

CDC40 Products (1)

mRNA	Protein	Name
NM_015891.3	NP_056975.1	pre-mRNA-processing factor 17

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22365833	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in embryonic brain development	IMP IMP: Inferred from mutant phenotype	33220177	GOA
involved in mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	28076346	GOA
involved in mRNA splicing, via spliceosome	IMP IMP: Inferred from mutant phenotype	33220177	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of U2-type catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	28076346	GOA
part of catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	11991638	GOA
located in nuclear speck	IDA IDA: Inferred from direct assay	9830021	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CDC40 Protein Structure

WD40

0
100
200
300
400
500
579 a.a.

Protein Preferred Names	Protein Names
pre-mRNA-processing factor 17	EH-binding protein 3

CDC40 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CDC40	O60508	PRPF19	Homo sapiens	Q9UMS4	Y2H	22365833

Cross: Cross-species interaction Intra: Intraspecies interaction

CDC40 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83423	CDC40 Antibody (YA3168)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Pontocerebellar Hypoplasia, Type 15	PCH15 Pontocerebellar Hypoplasia Type 15 Pontocerebellar Hypoplasia 15 Doid:0112326
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
Spastic Quadriplegia	Spastic Quadriplegic Cerebral Palsy Quadriplegic Infantile Cerebral Palsy Tetraplegic Infantile Cerebral Palsy Cerebral Palsy Spastic Quadriplegic Quadriplegic Cerebral Palsy Spastic Quadriplegia Cerebral Palsy Spastic Tetraplegia Cerebral Palsy Cerebral Palsy, Quadriplegic, Infantile Cerebral Palsy With Spastic Tetraplegia Congenital Spastic Quadriplegia Spastic Tetraplegic Cerebral Palsy Congenital Quadriplegia Nos Tetraplegic Cerebral Palsy
Quadriplegia	Tetraplegia Tetraplegias
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02299	CDC40 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CDC40	MGD	MGI:1918963
Rattus norvegicus	CDC40	RGD	RGD:1307063
Bos taurus	CDC40	VGNC	VGNC:27068
Macaca mulatta	CDC40	VGNC	VGNC:70798
Canis familiaris	CDC40	VGNC	VGNC:38996
Felis catus	CDC40	VGNC	VGNC:60656
Others	CDC40	NCBI