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MARK3 (microtubule affinity regulating kinase 3)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4140
Gene nameGene Name - the full gene name approved by the HGNC.
Microtubule affinity regulating kinase 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MARK3
SynonymsGene synonyms aliases
CTAK1, KP78, PAR1A, Par-1a, VIPB
ChromosomeChromosome number
14
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.32-q32.33
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is activated by phosphorylation and in turn is involved in the phosphorylation of tau proteins MAP2 and MAP4. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs376395495 C>G,T Pathogenic Coding sequence variant, intron variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT043531 hsa-miR-331-3p CLASH 23622248
MIRT1132648 hsa-miR-1228 CLIP-seq
MIRT1132649 hsa-miR-1270 CLIP-seq
MIRT1132650 hsa-miR-1912 CLIP-seq
MIRT1132651 hsa-miR-302f CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0000226 Process Microtubule cytoskeleton organization IBA 21873635
GO:0004674 Function Protein serine/threonine kinase activity IBA 21873635
GO:0004674 Function Protein serine/threonine kinase activity IDA 9543386, 16980613
GO:0004674 Function Protein serine/threonine kinase activity NAS 28386764
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P27448
Protein name MAP/microtubule affinity-regulating kinase 3 (EC 2.7.11.1) (C-TAK1) (cTAK1) (Cdc25C-associated protein kinase 1) (ELKL motif kinase 2) (EMK-2) (Protein kinase STK10) (Ser/Thr protein kinase PAR-1) (Par-1a) (Serine/threonine-protein kinase p78)
Protein function Serine/threonine-protein kinase (PubMed:16822840, PubMed:16980613, PubMed:23666762). Involved in the specific phosphorylation of microtubule-associated proteins for MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU (PubMe
PDB 2QNJ , 3FE3 , 7P1L , 8UOH , 8UOI , 8UOJ , 8UOK , 8UOL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase
56 307
Protein kinase domain
Domain
PF00627 UBA
327 363
UBA/TS-N domain
Domain
PF02149 KA1
709 753
Kinase associated domain 1
Domain
Sequence
MSTRTPLPTVNERDTENHTSHGDGRQEVTSRTSRSGARCRNSIASCADEQPHIGNYRLLK
TIGKGNFAKVKLARHILTGREVAIKIIDKTQLNPTSLQKLFREVRIMKILNHPNIVKLFE
VIETEKTLYLIMEYASGGEVFDYLVAHGRMKEKEARSKFRQIVSAVQYCHQKRIVHRDLK
AENLLLDADMNIKIADFGFSNEFTVGGKLDTFCGSPPYAAPELFQGKKYDGPEVDVWSLG
VILYTLVSGSLPFDGQNLKELRERVLRGKYRIPFYMSTDCENLLKRFLVLNPIKRGTLEQ
IMKDRWI
NAGHEEDELKPFVEPELDISDQKRIDIMVGMGYSQEEIQESLSKMKYDEITAT
YLL
LGRKSSELDASDSSSSSNLSLAKVRPSSDLNNSTGQSPHHKVQRSVSSSQKQRRYSD
HAGPAIPSVVAYPKRSQTSTADSDLKEDGISSRKSSGSAVGGKGIAPASPMLGNASNPNK
ADIPERKKSSTVPSSNTASGGMTRRNTYVCSERTTADRHSVIQNGKENSTIPDQRTPVAS
THSISSAATPDRIRFPRGTASRSTFHGQPRERRTATYNGPPASPSLSHEATPLSQTRSRG
STNLFSKLTSKLTRRNMSFRFIKRLPTEYERNGRYEGSSRNVSAEQKDENKEAKPRSLRF
TWSMKTTSSMDPGDMMREIRKVLDANNCDYEQRERFLLFCVHGDGHAENLVQWEMEVCKL
PRLSLNGVRFKRISGTSIAFKNIASKIANELKL
Sequence length 753
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    RAF activation
MAP2K and MAPK activation
Negative regulation of MAPK pathway
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Signaling downstream of RAS mutants
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Cornea plana Cornea plana rs121917858, rs121917860, rs121917862, rs121917863, rs386833985, rs386833986, rs757611751
Visual impairment and progressive phthisis bulbi VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI rs376395495 29771303
Unknown
Disease name Disease term dbSNP ID References
Hyperopia Hyperopia
Phthisis bulbi Phthisis bulbi
Ptosis Blepharoptosis, Ptosis rs139920573

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