Seroatlas · Human Serome Atlas

DYRK1A

Dual specificity tyrosine-phosphorylation-regulated kinase 1A

Also known as: DYR1A_HUMAN, DYRK, DYRK1, MNBH

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

Protein identityUniProt · HPA

UniProt accession: Q13627
Gene: DYRK1A
Ensembl: ENSG00000157540
Chromosome: 21
Canonical length: 763 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nuclear speckles,Centrosome,Cytosol

OverviewNCBI Gene

This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

763 residues, UniProt reviewed canonical sequence.

>Q13627|DYRK1A
     1  MHTGGETSAC KPSSVRLAPS FSFHAAGLQM AGQMPHSHQY SDRRQPNISD QQVSALSYSD
    61  QIQQPLTNQV MPDIVMLQRR MPQTFRDPAT APLRKLSVDL IKTYKHINEV YYAKKKRRHQ
   121  QGQGDDSSHK KERKVYNDGY DDDNYDYIVK NGEKWMDRYE IDSLIGKGSF GQVVKAYDRV
   181  EQEWVAIKII KNKKAFLNQA QIEVRLLELM NKHDTEMKYY IVHLKRHFMF RNHLCLVFEM
   241  LSYNLYDLLR NTNFRGVSLN LTRKFAQQMC TALLFLATPE LSIIHCDLKP ENILLCNPKR
   301  SAIKIVDFGS SCQLGQRIYQ YIQSRFYRSP EVLLGMPYDL AIDMWSLGCI LVEMHTGEPL
   361  FSGANEVDQM NKIVEVLGIP PAHILDQAPK ARKFFEKLPD GTWNLKKTKD GKREYKPPGT
   421  RKLHNILGVE TGGPGGRRAG ESGHTVADYL KFKDLILRML DYDPKTRIQP YYALQHSFFK
   481  KTADEGTNTS NSVSTSPAME QSQSSGTTSS TSSSSGGSSG TSNSGRARSD PTHQHRHSGG
   541  HFTAAVQAMD CETHSPQVRQ QFPAPLGWSG TEAPTQVTVE THPVQETTFH VAPQQNALHH
   601  HHGNSSHHHH HHHHHHHHHG QQALGNRTRP RVYNSPTNSS STQDSMEVGH SHHSMTSLSS
   661  STTSSSTSSS STGNQGNQAY QNRPVAANTL DFGQNGAMDV NLTVYSNPRQ ETGIAGHPTY
   721  QFSANTGPAH YMTEGHLTMR QGADREESPM TGVCVQQSPV ASS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DYRK1A 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): 0.49
Highest tissue expression: 67 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 67 nTPM
skeletal muscle: 43 nTPM
thymus: 43 nTPM
tongue: 42 nTPM
spleen: 29 nTPM
lymph node: 28 nTPM

Single-cell type

neutrophils: 1,183 nCPM
neutrophil progenitors: 790 nCPM
pituicytes/fscs: 524 nCPM
myonuclei: 503 nCPM
monocyte progenitors: 465 nCPM
choroid plexus epithelial cells: 463 nCPM

Immune cell

basophil: 3.1 nTPM
neutrophil: 2.3 nTPM
naive CD4 T-cell: 1.4 nTPM
memory CD4 T-cell: 1.3 nTPM
naive CD8 T-cell: 1.3 nTPM
plasmacytoid DC: 1.3 nTPM

Brain region

cerebellum: 106 nTPM
choroid plexus: 92 nTPM
white matter: 89 nTPM
cerebral cortex: 88 nTPM
hippocampal formation: 86 nTPM
hypothalamus: 85 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DYRK1A.

Disease | AllUniProt

Conditions DYRK1A is implicated in, by any mechanism.

Intellectual developmental disorder, autosomal dominant 7 (MRD7) MIM:614104

Disease | GeneticClinVar

263 pathogenic / likely-pathogenic of 1,170 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

DYRK1A-related intellectual disability syndrome
Intellectual disability
Inborn genetic diseases
Complex neurodevelopmental disorder
6 conditions

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): 0.21
gnomAD pLI: 1
gnomAD missense Z: 3.34
DepMap mean gene effect: -0.06
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

InteractionsUniProt · HPA

Protein binding partners of DYRK1A 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 DYRK1A as an antibody target. Whether an autoantibody or antibody against DYRK1A could matter depends on whether native DYRK1A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DYRK1A 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 DYRK1A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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