Gene Gene information from NCBI Gene database.
Entrez ID 50488
Gene name Misshapen like kinase 1
Gene symbol MINK1
Synonyms (NCBI Gene)
B55MAP4K6MEKKK 6MINKYSK2ZC3
Chromosome 17
Chromosome location 17p13.2
Summary This gene encodes a serine/threonine kinase belonging to the germinal center kinase (GCK) family. The protein is structurally similar to the kinases that are related to NIK and may belong to a distinct subfamily of NIK-related kinases within the GCK famil
miRNA miRNA information provided by mirtarbase database.
541
miRTarBase ID miRNA Experiments Reference
MIRT049099 hsa-miR-92a-3p CLASH 23622248
MIRT046617 hsa-miR-222-3p CLASH 23622248
MIRT045281 hsa-miR-186-5p CLASH 23622248
MIRT040973 hsa-miR-18a-3p CLASH 23622248
MIRT037477 hsa-miR-744-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IBA
GO:0000166 Function Nucleotide binding IEA
GO:0001952 Process Regulation of cell-matrix adhesion IMP 15469942
GO:0004672 Function Protein kinase activity IEA
GO:0004672 Function Protein kinase activity TAS 10708748
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609426 17565 ENSG00000141503
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N4C8
Protein name Misshapen-like kinase 1 (EC 2.7.11.1) (GCK family kinase MiNK) (MAPK/ERK kinase kinase kinase 6) (MEK kinase kinase 6) (MEKKK 6) (Misshapen/NIK-related kinase) (Mitogen-activated protein kinase kinase kinase kinase 6)
Protein function Serine/threonine kinase which acts as a negative regulator of Ras-related Rap2-mediated signal transduction to control neuronal structure and AMPA receptor trafficking (PubMed:10708748, PubMed:16337592). Required for normal synaptic density, den
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 25 289 Protein kinase domain Domain
PF00780 CNH 1023 1303 CNH domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain, isoform 2 is more abundant than isoform 1. Isoform 3 is ubiquitously expressed. Isoform 1 is most abundant in the skeletal muscle. Isoform 4 is ubiquitously expressed with relative high levels in brain, skeletal
Sequence
MGDPAPARSLDDIDLSALRDPAGIFELVEVVGNGTYGQVYKGRHVKTGQLAAIKVMDVTE
DEEEEIKQEINMLKKYSHHRNIATYYGAFIKKSPPGNDDQLWLVMEFCGAGSVTDLVKNT
KGNALKEDCIAYICREILRGLAHLHAHKVIHRDIKGQNVLLTENAEVKLVDFGVSAQLDR
TVGRRNTFIGTPYWMAPEVIACDENPDATYDYRSDIWSLGITAIEMAEGAPPLCDMHPMR
ALFLIPRNPPPRLKSKKWSKKFIDFIDTCLIKTYLSRPPTEQLLKFPFI
RDQPTERQVRI
QLKDHIDRSRKKRGEKEETEYEYSGSEEEDDSHGEEGEPSSIMNVPGESTLRREFLRLQQ
ENKSNSEALKQQQQLQQQQQRDPEAHIKHLLHQRQRRIEEQKEERRRVEEQQRREREQRK
LQEKEQQRRLEDMQALRREEERRQAEREQEYKRKQLEEQRQSERLQRQLQQEHAYLKSLQ
QQQQQQQLQKQQQQQLLPGDRKPLYHYGRGMNPADKPAWAREVEERTRMNKQQNSPLAKS
KPGSTGPEPPIPQASPGPPGPLSQTPPMQRPVEPQEGPHKSLVAHRVPLKPYAAPVPRSQ
SLQDQPTRNLAAFPASHDPDPAIPAPTATPSARGAVIRQNSDPTSEGPGPSPNPPAWVRP
DNEAPPKVPQRTSSIATALNTSGAGGSRPAQAVRARPRSNSAWQIYLQRRAERGTPKPPG
PPAQPPGPPNASSNPDLRRSDPGWERSDSVLPASHGHLPQAGSLERNRVGVSSKPDSSPV
LSPGNKAKPDDHRSRPGRPADFVLLKERTLDEAPRPPKKAMDYSSSSEEVESSEDDEEEG
EGGPAEGSRDTPGGRSDGDTDSVSTMVVHDVEEITGTQPPYGGGTMVVQRTPEEERNLLH
ADSNGYTNLPDVVQPSHSPTENSKGQSPPSKDGSGDYQSRGLVKAPGKSSFTMFVDLGIY
QPGGSGDSIPITALVGGEGTRLDQLQYDVRKGSVVNVNPTNTRAHSETPEIRKYKKRFNS
EILCAALWGVNLLVGTENGLMLLDRSGQGKVYGLIGRRRFQQMDVLEGLNLLITISGKRN
KLRVYYLSWLRNKILHNDPEVEKKQGWTTVGDMEGCGHYRVVKYERIKFLVIALKSSVEV
YAWAPKPYHKFMAFKSFADLPHRPLLVDLTVEEGQRLKVIYGSSAGFHAVDVDSGNSYDI
YIPVHIQSQITPHAIIFLPNTDGMEMLLCYEDEGVYVNTYGRIIKDVVLQWGEMPTSVAY
ICSNQIMGWGEKAIEIRSVETGHLDGVFMHKRAQRLKFLCERN
DKVFFASVRSGGSSQVY
FMTLNRNCIMNW
Sequence length 1332
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Oxidative Stress Induced Senescence
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs2509187457 RCV004557803
See cases Uncertain significance rs1371779157 RCV005255503
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 30413934
Autistic Disorder Associate 36012658
Carcinoma Hepatocellular Associate 33818013
Disease Associate 36012658
Drug Related Side Effects and Adverse Reactions Associate 19535438, 26085163
Epilepsy Associate 36012658
Kidney Failure Chronic Stimulate 35083784
Lupus Erythematosus Systemic Associate 32620744
Neoplasms Associate 26085163, 27184734
Osteoporosis Associate 36012658