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DYRK1B

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Protein-coding gene in the species Homo sapiens
DYRK1B
Identifiers
AliasesDYRK1B, AOMS3, MIRK, dual specificity tyrosine phosphorylation regulated kinase 1B
External IDsOMIM: 604556; MGI: 1330302; HomoloGene: 31253; GeneCards: DYRK1B; OMA:DYRK1B - orthologs
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)
Chromosome 19 (human)Genomic location for DYRK1BGenomic location for DYRK1B
Band19q13.2Start39,825,350 bp
End39,834,201 bp
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)
Chromosome 7 (mouse)Genomic location for DYRK1BGenomic location for DYRK1B
Band7|7 A3Start27,878,894 bp
End27,886,719 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • muscle of thigh

  • skeletal muscle tissue

  • right testis

  • left testis

  • gastrocnemius muscle

  • right uterine tube

  • Pituitary Gland

  • right adrenal gland

  • anterior pituitary

  • right adrenal cortex
Top expressed in
  • spermatid

  • muscle of thigh

  • spermatocyte

  • seminiferous tubule

  • neural layer of retina

  • genital tubercle

  • lip

  • superior frontal gyrus

  • skeletal muscle tissue

  • granulocyte
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

9149

13549

Ensembl

ENSG00000105204
ENSG00000281320

ENSMUSG00000002409

UniProt

Q9Y463

Q9Z188

RefSeq (mRNA)

NM_004714
NM_006483
NM_006484

NM_001037957
NM_001271370
NM_010092

RefSeq (protein)

NP_004705
NP_006474
NP_006475
NP_004705.1

NP_001033046
NP_001258299
NP_034222

Location (UCSC)Chr 19: 39.83 – 39.83 MbChr 7: 27.88 – 27.89 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Dual specificity tyrosine-phosphorylation-regulated kinase 1B is an enzyme that in humans is encoded by the DYRK1B gene.

Function

DYRK1B is a member of the DYRK family of protein kinases. DYRK1B contains a bipartite nuclear localization signal and is found mainly in muscle and testis. The protein is proposed to be involved in the regulation of nuclear functions. Three isoforms of DYRK1B have been identified differing in the presence of two alternatively spliced exons within the catalytic domain.

Interactions

DYRK1B has been shown to interact with:

Clinical significance

One lone missense mutation in Dyrk1B gene (R102C) was found associated with an autosomal dominant early onset Coronary Artery Disease, juvenile-onset truncal obesity, severe hypertension, and type II diabetes mellitus - seen in subjects from a nomadic group in Iran.

See also

References

  1. ^ ENSG00000281320 GRCh38: Ensembl release 89: ENSG00000105204, ENSG00000281320Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000002409Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Leder S, Weber Y, Altafaj X, Estivill X, Joost HG, Becker W (Feb 1999). "Cloning and characterization of DYRK1B, a novel member of the DYRK family of protein kinases". Biochem Biophys Res Commun. 254 (2): 474–9. doi:10.1006/bbrc.1998.9967. PMID 9918863.
  6. ^ "Entrez Gene: DYRK1B dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B".
  7. Lim S, Jin K, Friedman E (Jul 2002). "Mirk protein kinase is activated by MKK3 and functions as a transcriptional activator of HNF1alpha". J. Biol. Chem. 277 (28): 25040–6. doi:10.1074/jbc.M203257200. PMID 11980910.
  8. Zou Y, Lim S, Lee K, Deng X, Friedman E (Dec 2003). "Serine/threonine kinase Mirk/Dyrk1B is an inhibitor of epithelial cell migration and is negatively regulated by the Met adaptor Ran-binding protein M". J. Biol. Chem. 278 (49): 49573–81. doi:10.1074/jbc.M307556200. PMID 14500717.
  9. Keramati AR; et al. (2013). "Identification of a Novel Disease Gene for Early Onset Atherosclerosis, Diabetes and Metabolic Syndrome by Whole Exome Sequencing and Linkage Analysis". Circulation. 128 (22 Supplement).

Further reading


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