CDK5RAP1
Mitochondrial tRNA methylthiotransferase CDK5RAP1
Also known as: C20orf34, C42, CGI-05, CK5P1_HUMAN, HSPC167
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96SZ6
- Gene
- CDK5RAP1
- Ensembl
- ENSG00000101391
- Chromosome
- 20
- Canonical length
- 601 aa
- Protein class
- Enzymes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Mitochondria,Cytosol
OverviewNCBI Gene
This gene encodes a regulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent kinase 5 activity. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]
Canonical amino-acid sequenceUniProt
601 residues, UniProt reviewed canonical sequence.
>Q96SZ6|CDK5RAP1
1 MHPLQCVLQV QRSLGWGPLA SVSWLSLRMC RAHSSLSSTM CPSPERQEDG ARKDFSSRLA
61 AGPTFQHFLK SASAPQEKLS SEVEDPPPYL MMDELLGRQR KVYLETYGCQ MNVNDTEIAW
121 SILQKSGYLR TSNLQEADVI LLVTCSIREK AEQTIWNRLH QLKALKTRRP RSRVPLRIGI
181 LGCMAERLKE EILNREKMVD ILAGPDAYRD LPRLLAVAES GQQAANVLLS LDETYADVMP
241 VQTSASATSA FVSIMRGCDN MCSYCIVPFT RGRERSRPIA SILEEVKKLS EQVFLPPRPP
301 KVLGLQGLKE VTLLGQNVNS FRDNSEVQFN SAVPTNLSRG FTTNYKTKQG GLRFAHLLDQ
361 VSRVDPEMRI RFTSPHPKDF PDEVLQLIHE RDNICKQIHL PAQSGSSRVL EAMRRGYSRE
421 AYVELVHHIR ESIPGVSLSS DFIAGFCGET EEDHVQTVSL LREVQYNMGF LFAYSMRQKT
481 RAYHRLKDDV PEEVKLRRLE ELITIFREEA TKANQTSVGC TQLVLVEGLS KRSATDLCGR
541 NDGNLKVIFP DAEMEDVNNP GLRVRAQPGD YVLVKITSAS SQTLRGHVLC RTTLRDSSAY
601 CLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CDK5RAP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 21 nTPM
Expression across tissuesHPA
Tissue
- tongue: 21 nTPM
- skeletal muscle: 20 nTPM
- bone marrow: 18 nTPM
- retina: 15 nTPM
- tonsil: 14 nTPM
- skin: 12 nTPM
Single-cell type
- cone photoreceptor cells: 110 nCPM
- rod photoreceptor cells: 88 nCPM
- myonuclei: 79 nCPM
- early primary spermatocytes: 57 nCPM
- cytotrophoblasts: 54 nCPM
- brain excitatory neurons: 50 nCPM
Immune cell
- intermediate monocyte: 22 nTPM
- MAIT T-cell: 22 nTPM
- NK-cell: 22 nTPM
- memory B-cell: 21 nTPM
- myeloid DC: 19 nTPM
- gdT-cell: 19 nTPM
Brain region
- choroid plexus: 14 nTPM
- basal ganglia: 12 nTPM
- hippocampal formation: 12 nTPM
- cerebral cortex: 11 nTPM
- cerebellum: 10 nTPM
- amygdala: 10 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.36
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.25
- DepMap mean gene effect
- 0
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 17% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- brain development
- mitochondrial tRNA modification
- negative regulation of cell cycle
- negative regulation of cyclin-dependent protein serine/threonine kinase activity
- positive regulation of mitochondrial translation
- regulation of neuron differentiation
- RNA modification
- positive regulation of translational fidelity
Molecular functions
- 4 iron, 4 sulfur cluster binding
- metal ion binding
- protein kinase binding
- tRNA-2-methylthio-N(6)-dimethylallyladenosine(37) synthase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- TRAM domain
- Methylthiotransferase
- Elp3/MiaA/NifB-like, radical SAM core domain
- Radical SAM
- Methylthiotransferase, N-terminal
- Methylthiotransferase, conserved site
- Radical SAM, alpha/beta horseshoe
- Methylthiotransferase, N-terminal domain superfamily
- Radical SAM superfamily
- Uncharacterized protein family UPF0004
- TRAM domain
- Radical SAM superfamily
- tRNA-2-methylthio-N(6)-dimethylallyladenosine synthase MiaB
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CDK5RAP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CDK5RAP1 as an antibody target. Whether an autoantibody or antibody against CDK5RAP1 could matter depends on whether native CDK5RAP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CDK5RAP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CDK5RAP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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