CDK5RAP1 Gene
CDK5 Regulatory Subunit Associated Protein 1
Gene Information Card
| Symbol | CDK5RAP1 |
|---|---|
| Full Name | CDK5 regulatory subunit associated protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 51654 ncbi.nlm.nih.gov/gene/51654 |
| Ensembl ID | ENSG00000101412 |
| UniProt ID | Q96SZ6 |
| OMIM ID | 608200 |
| HGNC ID | 13435 |
| Aliases | C20orf34, CGI-05, MCPH7, p35, CDK5RAP1.1, CDK5RAP1.2 |
Description
CDK5RAP1 encodes a protein that interacts with CDK5R1 (p35) and is involved in the 2-thiolation of mitochondrial tRNAs, specifically catalyzing the conversion of 2-thiouridine to 2-thiouridine derivatives. This modification is critical for mitochondrial translation and function. Mutations in CDK5RAP1 are associated with autosomal recessive primary microcephaly type 7 (MCPH7).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly 7 (MCPH7) | Loss-of-function mutations impair mitochondrial tRNA modification, leading to defective mitochondrial translation and reduced brain growth | OMIM #612703; PMID: 23643382 |
| Autosomal recessive primary microcephaly | Disrupted mitochondrial function due to impaired tRNA thiolation affects neurogenesis | ClinVar; PMID: 23643382 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Heart | 8.9 | Medium |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 12.1 | Medium expression |
| K562 | 8.7 | Medium expression |
| HepG2 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.457C>T (p.Arg153*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no translation initiation |
| c.748G>A (p.Gly250Arg) | Missense | Rare | Likely loss of function; disrupts catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, impairing mitochondrial tRNA thiolation.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • tRNA modification (GO:0006400) |
| • tRNA thio-modification (GO:0002143) | • protein binding (GO:0005515) |
| • nucleotidyltransferase activity (GO:0016779) |
Pathways
• Mitochondrial tRNA modification
• tRNA wobble uridine modification
Protein Summary
The CDK5RAP1 protein is a mitochondrial enzyme that catalyzes the 2-thiolation of mitochondrial tRNAs, a modification essential for accurate codon-anticodon pairing during mitochondrial translation. It interacts with CDK5R1 (p35) but its primary function is in mitochondrial RNA metabolism. Defects in this protein lead to impaired mitochondrial protein synthesis, particularly affecting tissues with high energy demands like the brain, resulting in microcephaly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDK5RAP1 Knockout HEK293 Cell Line | EDJ-KQ11175 | Human | 51654 | Details Get a Quote |
| CDK5RAP1 Knockout A-549 Cell Line | EDJ-KQ39209 | Human | 51654 | Details Get a Quote |
| CDK5RAP1 Knockout HCT 116 Cell Line | EDJ-KQ39210 | Human | 51654 | Details Get a Quote |
| CDK5RAP1 Knockout HeLa Cell Line | EDJ-KQ39211 | Human | 51654 | Details Get a Quote |
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