• Gene id: 1859

Gene Summary

• Gene Symbol: DYRK1A   Gene   UCSC   Ensembl
• Aliases: DYRK, DYRK1, HP86, MNB, MNBH, MRD7
• Gene name: dual specificity tyrosine phosphorylation regulated kinase 1A
• Alternate names: dual specificity tyrosine-phosphorylation-regulated kinase 1A, MNB/DYRK protein kinase, dual specificity YAK1-related kinase, dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A, mnb protein kinase homolog hp86, protein kinase minibrain homolog, s,
• Gene location: 21q22.13 (37365572: 37526357)     Exons: 21     NC_000021.9
• Gene summary(Entrez): 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
• OMIM: 600855

Protein Summary

• Protein general information: Q13627  
  • Name: Dual specificity tyrosine phosphorylation regulated kinase 1A (EC 2.7.12.1) (Dual specificity YAK1 related kinase) (HP86) (Protein kinase minibrain homolog) (MNBH) (hMNB)
  • Length: 763  
  • Mass: 85584
  • Tissue specificity: Ubiquitous. Highest levels in skeletal muscle, testis, fetal lung and fetal kidney. {ECO
• Sequence:

  MHTGGETSACKPSSVRLAPSFSFHAAGLQMAGQMPHSHQYSDRRQPNISDQQVSALSYSDQIQQPLTNQVMPDIV
  MLQRRMPQTFRDPATAPLRKLSVDLIKTYKHINEVYYAKKKRRHQQGQGDDSSHKKERKVYNDGYDDDNYDYIVK
  NGEKWMDRYEIDSLIGKGSFGQVVKAYDRVEQEWVAIKIIKNKKAFLNQAQIEVRLLELMNKHDTEMKYYIVHLK
  RHFMFRNHLCLVFEMLSYNLYDLLRNTNFRGVSLNLTRKFAQQMCTALLFLATPELSIIHCDLKPENILLCNPKR
  SAIKIVDFGSSCQLGQRIYQYIQSRFYRSPEVLLGMPYDLAIDMWSLGCILVEMHTGEPLFSGANEVDQMNKIVE
  VLGIPPAHILDQAPKARKFFEKLPDGTWNLKKTKDGKREYKPPGTRKLHNILGVETGGPGGRRAGESGHTVADYL
  KFKDLILRMLDYDPKTRIQPYYALQHSFFKKTADEGTNTSNSVSTSPAMEQSQSSGTTSSTSSSSGGSSGTSNSG
  RARSDPTHQHRHSGGHFTAAVQAMDCETHSPQVRQQFPAPLGWSGTEAPTQVTVETHPVQETTFHVAPQQNALHH
  HHGNSSHHHHHHHHHHHHHGQQALGNRTRPRVYNSPTNSSSTQDSMEVGHSHHSMTSLSSSTTSSSTSSSSTGNQ
  GNQAYQNRPVAANTLDFGQNGAMDVNLTVYSNPRQETGIAGHPTYQFSANTGPAHYMTEGHLTMRQGADREESPM
  TGVCVQQSPVASS

• Structural information:
  • Protein Domains: (159..47-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR028318  IPR011009  IPR000719  IPR017441  IPR008271  
  • Prosite: PS00107 PS50011 PS00108
  • PDB: 2VX3 2WO6 3ANQ 3ANR 4AZE 4MQ1 4MQ2 4NCT 4YLJ 4YLK 4YLL 4YU2 5A3X 5A4E 5A4L 5A4Q 5A4T 5A54 5AIK 6A1F 6A1G 6EIF 6EIJ 6EIL 6EIP 6EIQ 6EIR 6EIS 6EIV 6EJ4 6S11 6S14 6S17 6S1B 6S1H 6S1I 6S1J 6T6A
  • PDBsum: 2VX3 2WO6 3ANQ 3ANR 4AZE 4MQ1 4MQ2 4NCT 4YLJ 4YLK 4YLL 4YU2 5A3X 5A4E 5A4L 5A4Q 5A4T 5A54 5AIK 6A1F 6A1G 6EIF 6EIJ 6EIL 6EIP 6EIQ 6EIR 6EIS 6EIV 6EJ4 6S11 6S14 6S17 6S1B 6S1H 6S1I 6S1J 6T6A
  • DIP: 39750
  • STRING: ENSP00000381932
• Other Databases: GeneCards:  DYRK1A  Malacards:  DYRK1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005856	cytoskeleton	IDA	colocalizes with
GO:0038083	peptidyl-tyrosine autophosphorylation	IDA	biological process
GO:0048156	tau protein binding	ISS	molecular function
GO:0048156	tau protein binding	NAS	molecular function
GO:0004674	protein serine/threonine kinase activity	IGI	molecular function
GO:0004674	protein serine/threonine kinase activity	IGI	molecular function
GO:0004674	protein serine/threonine kinase activity	NAS	molecular function
GO:0050321	tau-protein kinase activity	NAS	molecular function
GO:0033120	positive regulation of RNA splicing	IDA	biological process
GO:0006468	protein phosphorylation	TAS	biological process
GO:0006468	protein phosphorylation	TAS	biological process
GO:0036289	peptidyl-serine autophosphorylation	TAS	biological process
GO:0030424	axon	ISS	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0038083	peptidyl-tyrosine autophosphorylation	TAS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0018105	peptidyl-serine phosphorylation	IGI	biological process
GO:0018105	peptidyl-serine phosphorylation	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0016607	nuclear speck	TAS	cellular component
GO:0031115	negative regulation of microtubule polymerization	ISS	biological process
GO:0018107	peptidyl-threonine phosphorylation	ISS	biological process
GO:0034205	amyloid-beta formation	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IBA	biological process
GO:0018105	peptidyl-serine phosphorylation	IBA	biological process
GO:0018107	peptidyl-threonine phosphorylation	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0003713	transcription coactivator activity	IBA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0007623	circadian rhythm	ISS	biological process
GO:0004674	protein serine/threonine kinase activity	ISS	molecular function
GO:0004712	protein serine/threonine/tyrosine kinase activity	IEA	molecular function
GO:0046777	protein autophosphorylation	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0004672	protein kinase activity	TAS	molecular function
GO:0004672	protein kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0007399	nervous system development	TAS	biological process
GO:0004712	protein serine/threonine/tyrosine kinase activity	IEA	molecular function
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IDA	molecular function
GO:0004672	protein kinase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IEA	biological process
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0018105	peptidyl-serine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0033120	positive regulation of RNA splicing	IEA	biological process
GO:0046777	protein autophosphorylation	IEA	biological process
GO:0018105	peptidyl-serine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0031115	negative regulation of microtubule polymerization	IEA	biological process
GO:0038083	peptidyl-tyrosine autophosphorylation	IEA	biological process
GO:0048156	tau protein binding	IEA	molecular function
GO:1990904	ribonucleoprotein complex	IEA	cellular component
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016607	nuclear speck	IEA	cellular component
GO:0018107	peptidyl-threonine phosphorylation	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007623	circadian rhythm	IEA	biological process
GO:0018107	peptidyl-threonine phosphorylation	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0043518	negative regulation of DNA damage response, signal transduction by p53 class mediator	IEA	biological process
GO:0043621	protein self-association	IEA	molecular function
GO:0048025	negative regulation of mRNA splicing, via spliceosome	IEA	biological process
GO:0090312	positive regulation of protein deacetylation	IEA	biological process
GO:0048156	tau protein binding	ISS	molecular function
GO:0004674	protein serine/threonine kinase activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0018107	peptidyl-threonine phosphorylation	ISS	biological process
GO:0043518	negative regulation of DNA damage response, signal transduction by p53 class mediator	ISS	biological process
GO:0090312	positive regulation of protein deacetylation	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0046777	protein autophosphorylation	ISS	biological process
GO:0016607	nuclear speck	ISS	cellular component
GO:0006468	protein phosphorylation	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0004674	protein serine/threonine kinase activity	ISS	molecular function
GO:0018108	peptidyl-tyrosine phosphorylation	ISS	biological process
GO:0004713	protein tyrosine kinase activity	ISS	molecular function
GO:0043621	protein self-association	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Down syndrome	KEGG:H01552
Autosomal dominant mental retardation	KEGG:H00773
Down syndrome	KEGG:H01552
Intellectual disability	PMID:25920557
Down syndrome	PMID:18696092
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray