1. Gene
  2. CDK5RAP3 - CDK5 regulatory subunit associated protein 3 Gene

CDK5RAP3 - CDK5 regulatory subunit associated protein 3 Gene

Homo sapiens

Also known as C53; IC53; LZAP; HSF-27; MST016; PP1553; OK/SW-cl.114

Gene ID: 80279 | Gene type: protein coding

About CDK5RAP3

Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:47,967,904-47,981,781 (from NCBI)

This gene has 37 transcripts (splice variants) and 201 orthologues. Ubiquitous expression in spleen (RPKM 44.2), lymph node (RPKM 40.3) and 25 other tissues.

Summary

This gene encodes a protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]

CDK5RAP3 Products(5)

mRNA Protein Name
NM_001278197.2 NP_001265126.1 CDK5 regulatory subunit-associated protein 3 isoform c
NM_001278198.2 NP_001265127.1 CDK5 regulatory subunit-associated protein 3 isoform d
NM_001278216.2 NP_001265145.1 CDK5 regulatory subunit-associated protein 3 isoform e
NM_001278217.2 NP_001265146.1 CDK5 regulatory subunit-associated protein 3 isoform f
NM_176096.3 NP_788276.1 CDK5 regulatory subunit-associated protein 3 isoform b

CDK5RAP3 Protein Structure

DUF773

DUF773: Protein of unknown function (DUF773) (1 - 503)

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  • 506 a.a.
Protein Preferred Names Protein Names

CDK5 regulatory subunit-associated protein 3

CDK5 regulatory subunit associated protein IC53-2

Related Diseases

Diseases Alias
Beukes Hip Dysplasia

Hip Dysplasia, Beukes Type

Beukes Familial Hip Dysplasia

BFHD

Cilliers-Beighton Syndrome

Osteoarthropathy, Premature Degenerative, Of Hip

Premature Degenerative Osteoarthropathy Of The Hip

BHD

Beukes Type Hip Dysplasia

Hip Dysplasia Beukes Type

Premature Degenerative Osteoarthropathy

Dysplasia, Hip, Beukes Type

Renal Cysts And Diabetes Syndrome

RCAD

Mody5

Congenital Anomalies Of The Kidney And Urinary Tract With Diabetes

Cakut With Diabetes

Maturity-Onset Diabetes Of The Young Type 5

Tubulointerstitial Kidney Disease, Autosomal Dominant, 3

Adtkd3

Atypical Familial Juvenile Hyperuricemic Nephropathy

Atypical Fjhn

Familial Hypoplastic Glomerulocystic Kidney

Maturity-Onset Diabetes Of The Young, Type 5

Hyperuricemic Nephropathy, Familial Juvenile, Atypical

Fjhn, Atypical

Glomerulocystic Kidney Disease, Hypoplastic Type

Glomerulocystic Kidney, Familial Hypoplastic

Hypoplastic Type Glomerulocystic Kidney Disease

Glomerulocystic Kidney Disease Hypoplastic Type

Renal-Diabetes Mody5 Syndrome

Maturity-Onset Diabetes Of The Young

MODY

Maturity Onset Diabetes Mellitus In Young

Mason-Type Diabetes

Mason Type Diabetes

Maturity Onset Diabetes Of The Young

Mody Syndrome

Diabetes Of The Young, Maturity-Onset

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
Rattus norvegicus CDK5RAP3 RGD RGD:620002
Bos taurus CDK5RAP3 VGNC VGNC:27132
Macaca mulatta CDK5RAP3 VGNC VGNC:71015
Felis catus CDK5RAP3 VGNC VGNC:60704
Canis familiaris CDK5RAP3 VGNC VGNC:39059
Mus musculus CDK5RAP3 MGD MGI:1933126