1. Gene
  2. CDC40 - cell division cycle 40 Gene

CDC40 - cell division cycle 40 Gene

Homo sapiens

Also known as EHB3; PCH15; PRP17; PRPF17

Gene ID: 51362 | Gene type: protein coding

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

CDC40 Protein Structure

WD40

WD40: WD domain, G-beta repeat (279 - 317)

WD40

WD40: WD domain, G-beta repeat (323 - 360)

WD40

WD40: WD domain, G-beta repeat (366 - 404)

WD40

WD40: WD domain, G-beta repeat (408 - 446)

WD40

WD40: WD domain, G-beta repeat (513 - 536)

WD40

WD40: WD domain, G-beta repeat (544 - 579)

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  • 579 a.a.
Protein Preferred Names Protein Names

pre-mRNA-processing factor 17

EH-binding protein 3

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

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