Q9NR20 (DYRK4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Dual specificity tyrosine-phosphorylation-regulated kinase 4
EC=2.7.12.1

Gene names

Name:

DYRK4

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	520 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Possible non-essential role in spermiogenesis By similarity.
Catalytic activity	ATP + a protein = ADP + a phosphoprotein.
Cofactor	Magnesium By similarity.
Subcellular location	Cytoplasm Ref.4.
Post-translational modification	Autophosphorylated on tyrosine residues By similarity.
Sequence similarities	Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily. Contains 1 protein kinase domain.
Sequence caution	The sequence AAF91393.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	ATP-binding Magnesium Metal-binding Nucleotide-binding
Molecular function	Kinase Serine/threonine-protein kinase Transferase Tyrosine-protein kinase
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	Golgi apparatus Inferred from direct assay. Source: HPA
Molecular_function	ATP binding Non-traceable author statement. Source: UniProtKB metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW protein serine/threonine kinase activity Non-traceable author statement. Source: UniProtKB protein serine/threonine/tyrosine kinase activity Inferred from electronic annotation. Source: EC protein tyrosine kinase activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NR20-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Note: May be due to a competing acceptor splice site. No experimental confirmation available.

Isoform 2 (identifier: Q9NR20-2)

The sequence of this isoform differs from the canonical sequence as follows:
     441-441: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 520	520	Dual specificity tyrosine-phosphorylation-regulated kinase 4		PRO_0000085940
Regions
	Domain	104 – 400	297	Protein kinase
	Nucleotide binding	110 – 118	9	ATP By similarity
Sites
	Active site	230	1	Proton acceptor By similarity
	Binding site	133	1	ATP
Amino acid modifications
	Modified residue	264	1	Phosphotyrosine By similarity
Natural variations
	Alternative sequence	441	1	Missing in isoform 2.		VSP_013745
	Natural variant	61	1	A → T. Corresponds to variant rs12306130 [ dbSNP | Ensembl ].		VAR_033900
	Natural variant	70	1	A → S. Ref.5		VAR_040465
	Natural variant	95	1	V → I. Ref.1		VAR_010721
	Natural variant	189	1	N → S. Ref.1 Corresponds to variant rs3741927 [ dbSNP | Ensembl ].		VAR_010722
	Natural variant	454	1	D → V. Corresponds to variant rs1801016 [ dbSNP | Ensembl ].		VAR_014948
Experimental info
	Mutagenesis	133	1	K → R: Loss of kinase activity. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 10, 2005. Version 2. Checksum: 33FECD8249DDB223	FASTA	520	59,608
	10 20 30 40 50 60 MPASELKASE IPFHPSIKTQ DPKAEEKSPK KQKVTLTAAE ALKLFKNQLS PYEQSEILGY 70 80 90 100 110 120 AELWFLGLEA KKLDTAPEKF SKTSFDDEHG FYLKVLHDHI AYRYEVLETI GKGSFGQVAK 130 140 150 160 170 180 CLDHKNNELV ALKIIRNKKR FHQQALMELK ILEALRKKDK DNTYNVVHMK DFFYFRNHFC 190 200 210 220 230 240 ITFELLGINL YELMKNNNFQ GFSLSIVRRF TLSVLKCLQM LSVEKIIHCD LKPENIVLYQ 250 260 270 280 290 300 KGQASVKVID FGSSCYEHQK VYTYIQSRFY RSPEVILGHP YDVAIDMWSL GCITAELYTG 310 320 330 340 350 360 YPLFPGENEV EQLACIMEVL GLPPAGFIQT ASRRQTFFDS KGFPKNITNN RGKKRYPDSK 370 380 390 400 410 420 DLTMVLKTYD TSFLDFLRRC LVWEPSLRMT PDQALKHAWI HQSRNLKPQP RPQTLRKSNS 430 440 450 460 470 480 FFPSETRKDK VQGCHHSSRK ADEITKETTE KTKDSPTKHV QHSGDQQDCL QHGADTVQLP 490 500 510 520 QLVDAPKKSE AAVGAEVSMT SPGQSKNFSL KNTNVLPPIV
	Isoform 2 [UniParc]. Checksum: 2ACD1BC87AA1591B	FASTA	519	59,537
	10 20 30 40 50 60 MPASELKASE IPFHPSIKTQ DPKAEEKSPK KQKVTLTAAE ALKLFKNQLS PYEQSEILGY 70 80 90 100 110 120 AELWFLGLEA KKLDTAPEKF SKTSFDDEHG FYLKVLHDHI AYRYEVLETI GKGSFGQVAK 130 140 150 160 170 180 CLDHKNNELV ALKIIRNKKR FHQQALMELK ILEALRKKDK DNTYNVVHMK DFFYFRNHFC 190 200 210 220 230 240 ITFELLGINL YELMKNNNFQ GFSLSIVRRF TLSVLKCLQM LSVEKIIHCD LKPENIVLYQ 250 260 270 280 290 300 KGQASVKVID FGSSCYEHQK VYTYIQSRFY RSPEVILGHP YDVAIDMWSL GCITAELYTG 310 320 330 340 350 360 YPLFPGENEV EQLACIMEVL GLPPAGFIQT ASRRQTFFDS KGFPKNITNN RGKKRYPDSK 370 380 390 400 410 420 DLTMVLKTYD TSFLDFLRRC LVWEPSLRMT PDQALKHAWI HQSRNLKPQP RPQTLRKSNS 430 440 450 460 470 480 FFPSETRKDK VQGCHHSSRK DEITKETTEK TKDSPTKHVQ HSGDQQDCLQ HGADTVQLPQ 490 500 510 LVDAPKKSEA AVGAEVSMTS PGQSKNFSLK NTNVLPPIV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23." White K.E., Evans W.E., O'Riordan J.L.H., Speer M.C., Econs M.J., Lorenz-Depiereux B., Grabowski M., Meitinger T., Strom T.M. Nat. Genet. 26:345-348(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANTS ILE-95 AND SER-189. Tissue: Brain and Kidney.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Testis.
[3]	"Sequence characteristics, subcellular localization, and substrate specificity of DYRK-related kinases, a novel family of dual specificity protein kinases." Becker W., Weber Y., Wetzel K., Eirmbter K., Tejedor F.J., Joost H.-G. J. Biol. Chem. 273:25893-25902(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 280-520 (ISOFORM 2). Tissue: Lung.
[4]	"The expression of the testis-specific Dyrk4 kinase is highly restricted to step 8 spermatids but is not required for male fertility in mice." Sacher F., Moeller C., Bone W., Gottwald U., Fritsch M. Mol. Cell. Endocrinol. 267:80-88(2007) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF LYS-133.
[5]	"Patterns of somatic mutation in human cancer genomes." Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G. , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R. Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-70.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF263541 mRNA. Translation: AAF91393.1. Different initiation. BC031244 mRNA. Translation: AAH31244.1. Y09305 mRNA. Translation: CAA70488.1.
IPI	IPI00396286. IPI00555676.
RefSeq	NP_003836.1. NM_003845.1.
UniGene	Hs.439530.
3D structure databases
ProteinModelPortal	Q9NR20.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NR20. 3 interactions.
PTM databases
PhosphoSite	Q9NR20.
Polymorphism databases
DMDM	68566308.
Proteomic databases
PaxDb	Q9NR20.
PRIDE	Q9NR20.
Protocols and materials databases
DNASU	8798.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000010132; ENSP00000010132; ENSG00000010219. ENST00000540757; ENSP00000441755; ENSG00000010219. ENST00000543431; ENSP00000439697; ENSG00000010219.
GeneID	8798.
KEGG	hsa:8798.
UCSC	uc001qmx.3. human. uc001qmy.2. human.
Organism-specific databases
CTD	8798.
GeneCards	GC12P004699.
HGNC	HGNC:3095. DYRK4.
HPA	HPA028065.
MIM	609181. gene.
neXtProt	NX_Q9NR20.
PharmGKB	PA27552.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0515.
HOGENOM	HOG000220863.
HOVERGEN	HBG051426.
InParanoid	Q9NR20.
KO	K08825.
OMA	GQSKNFS.
OrthoDB	EOG4Z62N9.
PhylomeDB	Q9NR20.
Gene expression databases
ArrayExpress	Q9NR20.
Bgee	Q9NR20.
CleanEx	HS_DYRK4.
Genevestigator	Q9NR20.
GermOnline	ENSG00000010219. Homo sapiens.
Family and domain databases
InterPro	IPR011009. Kinase-like_dom. IPR000719. Prot_kinase_cat_dom. IPR017441. Protein_kinase_ATP_BS. IPR002290. Ser/Thr_dual-sp_kinase_dom. IPR008271. Ser/Thr_kinase_AS. [Graphical view]
Pfam	PF00069. Pkinase. 1 hit. [Graphical view]
SMART	SM00220. S_TKc. 1 hit. [Graphical view]
SUPFAM	SSF56112. Kinase_like. 1 hit.
PROSITE	PS00107. PROTEIN_KINASE_ATP. 1 hit. PS50011. PROTEIN_KINASE_DOM. 1 hit. PS00108. PROTEIN_KINASE_ST. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChEMBL	CHEMBL1075115.
GenomeRNAi	8798.
NextBio	33000.
SOURCE	Search...

Entry information

Entry name

DYRK4_HUMAN

Accession

Primary (citable) accession number: Q9NR20
Secondary accession number(s): Q8NEF2, Q92631

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 27, 2001
Last sequence update:	May 10, 2005
Last modified:	May 1, 2013
This is version 122 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.