Gene Gene information from NCBI Gene database.
Entrez ID 4139
Gene name Microtubule affinity regulating kinase 1
Gene symbol MARK1
Synonyms (NCBI Gene)
MARKPar-1cPar1c
Chromosome 1
Chromosome location 1q41
miRNA miRNA information provided by mirtarbase database.
47
miRTarBase ID miRNA Experiments Reference
MIRT656421 hsa-miR-1283 HITS-CLIP 23824327
MIRT656420 hsa-miR-3616-5p HITS-CLIP 23824327
MIRT656419 hsa-miR-573 HITS-CLIP 23824327
MIRT656421 hsa-miR-1283 HITS-CLIP 23824327
MIRT656420 hsa-miR-3616-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
55
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000226 Process Microtubule cytoskeleton organization ISS 9108484
GO:0000287 Function Magnesium ion binding IDA 14976552
GO:0001764 Process Neuron migration ISS
GO:0001786 Function Phosphatidylserine binding IDA 21145462
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606511 6896 ENSG00000116141
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P0L2
Protein name Serine/threonine-protein kinase MARK1 (EC 2.7.11.1) (EC 2.7.11.26) (MAP/microtubule affinity-regulating kinase 1) (PAR1 homolog c) (Par-1c) (Par1c)
Protein function Serine/threonine-protein kinase (PubMed:23666762). Involved in cell polarity and microtubule dynamics regulation. Phosphorylates DCX, MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:23666762). Involved in cell p
PDB 2HAK , 3OSE , 6C9D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 60 311 Protein kinase domain Domain
PF00627 UBA 331 367 UBA/TS-N domain Domain
PF02149 KA1 751 795 Kinase associated domain 1 Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle, brain, fetal brain and fetal kidney. {ECO:0000269|PubMed:9108484}.
Sequence
MSARTPLPTVNERDTENHTSVDGYTEPHIQPTKSSSRQNIPRCRNSITSATDEQPHIGNY
RLQKTIGKGNFAKVKLARHVLTGREVAVKIIDKTQLNPTSLQKLFREVRIMKILNHPNIV
KLFEVIETEKTLYLVMEYASGGEVFDYLVAHGRMKEKEARAKFRQIVSAVQYCHQKYIVH
RDLKAENLLLDGDMNIKIADFGFSNEFTVGNKLDTFCGSPPYAAPELFQGKKYDGPEVDV
WSLGVILYTLVSGSLPFDGQNLKELRERVLRGKYRIPFYMSTDCENLLKKLLVLNPIKRG
SLEQIMKDRWM
NVGHEEEELKPYTEPDPDFNDTKRIDIMVTMGFARDEINDALINQKYDE
VMATYIL
LGRKPPEFEGGESLSSGNLCQRSRPSSDLNNSTLQSPAHLKVQRSISANQKQR
RFSDHAGPSIPPAVSYTKRPQANSVESEQKEEWDKDVARKLGSTTVGSKSEMTASPLVGP
ERKKSSTIPSNNVYSGGSMARRNTYVCERTTDRYVALQNGKDSSLTEMSVSSISSAGSSV
ASAVPSARPRHQKSMSTSGHPIKVTLPTIKDGSEAYRPGTTQRVPAASPSAHSISTATPD
RTRFPRGSSSRSTFHGEQLRERRSVAYNGPPASPSHETGAFAHARRGTSTGIISKITSKF
VRRDPSEGEASGRTDTSRSTSGEPKERDKEEGKDSKPRSLRFTWSMKTTSSMDPNDMMRE
IRKVLDANNCDYEQKERFLLFCVHGDARQDSLVQWEMEVCKLPRLSLNGVRFKRISGTSI
AFKNIASKIANELKL
Sequence length 795
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 21811019, 27879374, 30099988 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 20166940
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 18492799
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 18492799, 20166940
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism LHGDN 18492799
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism CTD_human_DG 18492799
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism Pubtator 27879374 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases Autoimmune Diseases BEFREE 31563849
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 31281935
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 31281935 Associate
★☆☆☆☆
Found in Text Mining only