Seroatlas · Human Serome Atlas

CDKAL1

Threonylcarbamoyladenosine tRNA methylthiotransferase

Also known as: CDKAL_HUMAN, FLJ20342

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q5VV42
Gene
CDKAL1
Ensembl
ENSG00000145996
Chromosome
6
Canonical length
579 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

579 residues, UniProt reviewed canonical sequence.

>Q5VV42|CDKAL1
     1  MPSASCDTLL DDIEDIVSQE DSKPQDRHFV RKDVVPKVRR RNTQKYLQEE ENSPPSDSTI
    61  PGIQKIWIRT WGCSHNNSDG EYMAGQLAAY GYKITENASD ADLWLLNSCT VKNPAEDHFR
   121  NSIKKAQEEN KKIVLAGCVP QAQPRQDYLK GLSIIGVQQI DRVVEVVEET IKGHSVRLLG
   181  QKKDNGRRLG GARLDLPKIR KNPLIEIISI NTGCLNACTY CKTKHARGNL ASYPIDELVD
   241  RAKQSFQEGV CEIWLTSEDT GAYGRDIGTN LPTLLWKLVE VIPEGAMLRL GMTNPPYILE
   301  HLEEMAKILN HPRVYAFLHI PVQSASDSVL MEMKREYCVA DFKRVVDFLK EKVPGITIAT
   361  DIICGFPGET DQDFQETVKL VEEYKFPSLF INQFYPRPGT PAAKMEQVPA QVKKQRTKDL
   421  SRVFHSYSPY DHKIGERQQV LVTEESFDSK FYVAHNQFYE QVLVPKNPAF MGKMVEVDIY
   481  ESGKHFMKGQ PVSDAKVYTP SISKPLAKGE VSGLTKDFRN GLGNQLSSGS HTSAASQCDS
   541  ASSRMVLPMP RLHQDCALRM SVGLALLGLL FAFFVKVYN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CDKAL1 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
Other membrane
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.3
Highest tissue expression
13 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 13 nTPM
  • thymus: 8.9 nTPM
  • bone marrow: 8.8 nTPM
  • thyroid gland: 8.8 nTPM
  • tongue: 8.8 nTPM
  • tonsil: 8.1 nTPM

Single-cell type

  • myonuclei: 594 nCPM
  • somatotrophs: 493 nCPM
  • hematopoietic stem cells: 488 nCPM
  • endometrial glandular cells: 483 nCPM
  • thyrotrophs: 424 nCPM
  • distal convoluted tubule cells: 411 nCPM

Immune cell

  • non-classical monocyte: 11 nTPM
  • NK-cell: 10 nTPM
  • naive CD4 T-cell: 7.7 nTPM
  • T-reg: 7.4 nTPM
  • naive CD8 T-cell: 7.1 nTPM
  • memory B-cell: 6.9 nTPM

Brain region

  • white matter: 24 nTPM
  • cerebellum: 22 nTPM
  • medulla oblongata: 20 nTPM
  • choroid plexus: 19 nTPM
  • pons: 19 nTPM
  • basal ganglia: 18 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CDKAL1.

Disease | AllUniProt

Conditions CDKAL1 is implicated in, by any mechanism.

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)
0.52
gnomAD pLI
0.02
gnomAD missense Z
1.66
DepMap mean gene effect
-0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CDKAL1 as an antibody target. Whether an autoantibody or antibody against CDKAL1 could matter depends on whether native CDKAL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CDKAL1 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 CDKAL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CDKAL1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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