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Aliases for MARK1 Gene

Aliases for MARK1 Gene

  • Microtubule Affinity Regulating Kinase 1 2 3
  • MAP/Microtubule Affinity-Regulating Kinase 1 2 3 4 5
  • PAR1 Homolog C 3 4
  • EC 2.7.11.1 4 63
  • Par-1c 3 4
  • Par1c 3 4
  • MARK 3 4
  • EC 2.7.11.26 4
  • EC 2.7.11 63
  • KIAA1477 4

External Ids for MARK1 Gene

Previous GeneCards Identifiers for MARK1 Gene

  • GC01P219297
  • GC01P216545
  • GC01P217248
  • GC01P217758
  • GC01P217757
  • GC01P217089
  • GC01P218768
  • GC01P220701
  • GC01P191375

Summaries for MARK1 Gene

GeneCards Summary for MARK1 Gene

MARK1 (Microtubule Affinity Regulating Kinase 1) is a Protein Coding gene. Diseases associated with MARK1 include tauopathy and alzheimer disease. Among its related pathways are Regulation of Microtubule Cytoskeleton. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is LOC102724428.

UniProtKB/Swiss-Prot for MARK1 Gene

  • Serine/threonine-protein kinase involved in cell polarity and microtubule dynamics regulation. Phosphorylates DCX, MAP2, MAP4 and MAPT/TAU. Involved in cell polarity by phosphorylating the microtubule-associated proteins MAP2, MAP4 and MAPT/TAU at KXGS motifs, causing detachment from microtubules, and their disassembly. Involved in the regulation of neuronal migration through its dual activities in regulating cellular polarity and microtubule dynamics, possibly by phosphorylating and regulating DCX. Also acts as a positive regulator of the Wnt signaling pathway, probably by mediating phosphorylation of dishevelled proteins (DVL1, DVL2 and/or DVL3).

Gene Wiki entry for MARK1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MARK1 Gene

Genomics for MARK1 Gene

Regulatory Elements for MARK1 Gene

Promoters for MARK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MARK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MARK1 Gene

Chromosome:
1
Start:
220,528,183 bp from pter
End:
220,664,461 bp from pter
Size:
136,279 bases
Orientation:
Plus strand

Genomic View for MARK1 Gene

Genes around MARK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MARK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MARK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MARK1 Gene

Proteins for MARK1 Gene

  • Protein details for MARK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0L2-MARK1_HUMAN
    Recommended name:
    Serine/threonine-protein kinase MARK1
    Protein Accession:
    Q9P0L2
    Secondary Accessions:
    • D3DTB0
    • D3DTB1
    • Q2HIY1
    • Q5VTF9
    • Q5VTG0
    • Q96SW9
    • Q9P251

    Protein attributes for MARK1 Gene

    Size:
    795 amino acids
    Molecular mass:
    89003 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Phosphorylation of MAPT/tau by MARK1 could play a role in early steps of Alzheimer disease. Pathological aggregation of MAPT/tau to neurofibrillary tangles, filamentous structures consisting of paired helical filaments (PHFs), is one of the hallmarks of Alzheimer disease. Hyperphosphorylation by MARK1 could be the initial step for this abnormal aggregation of tau in Alzheimer disease and animal models of tauopathy (PubMed:11089574).
    SequenceCaution:
    • Sequence=BAA96001.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB55152.1; Type=Frameshift; Positions=763; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MARK1 Gene

    Alternative splice isoforms for MARK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MARK1 Gene

Proteomics data for MARK1 Gene at MOPED

Post-translational modifications for MARK1 Gene

  • Phosphorylation at Thr-613 by PRKCZ/aPKC in polarized epithelial cells inhibits the kinase activity (By similarity). Phosphorylated at Thr-215 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39. Phosphorylation at Thr-215 by TAOK1 activates the kinase activity, leading to phosphorylation and detachment of MAPT/TAU from microtubules. Phosphorylation at Ser-219 by GSK3-beta (GSK3B) inhibits the kinase activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MARK1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MARK1 (MARK1)

Domains & Families for MARK1 Gene

Gene Families for MARK1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9P0L2

UniProtKB/Swiss-Prot:

MARK1_HUMAN :
  • The UBA domain does not seem to bind ubiquitin and ubiquitin-like and might play a role in regulating the enzyme conformation and localization. Activation of the kinase activity following phosphorylation at Thr-208 is accompanied by a conformational change that alters the orientation of the UBA domain with respect to the catalytic domain (By similarity).
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily.
Domain:
  • The UBA domain does not seem to bind ubiquitin and ubiquitin-like and might play a role in regulating the enzyme conformation and localization. Activation of the kinase activity following phosphorylation at Thr-208 is accompanied by a conformational change that alters the orientation of the UBA domain with respect to the catalytic domain (By similarity).
  • The KA1 domain mediates binding to phospholipids and targeting to membranes. Binds phosphatidic acid (PA), phosphatidylserine (PtdSer) and phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2).
  • Contains 1 KA1 (kinase-associated) domain.
  • Contains 1 protein kinase domain.
  • Contains 1 UBA domain.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily.
genes like me logo Genes that share domains with MARK1: view

Function for MARK1 Gene

Molecular function for MARK1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [tau protein] = ADP + [tau protein] phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by phosphorylation at Ser-219 (By similarity). Activated by phosphorylation on Thr-215.
UniProtKB/Swiss-Prot Function:
Serine/threonine-protein kinase involved in cell polarity and microtubule dynamics regulation. Phosphorylates DCX, MAP2, MAP4 and MAPT/TAU. Involved in cell polarity by phosphorylating the microtubule-associated proteins MAP2, MAP4 and MAPT/TAU at KXGS motifs, causing detachment from microtubules, and their disassembly. Involved in the regulation of neuronal migration through its dual activities in regulating cellular polarity and microtubule dynamics, possibly by phosphorylating and regulating DCX. Also acts as a positive regulator of the Wnt signaling pathway, probably by mediating phosphorylation of dishevelled proteins (DVL1, DVL2 and/or DVL3).

Enzyme Numbers (IUBMB) for MARK1 Gene

Gene Ontology (GO) - Molecular Function for MARK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA,IDA 14976552
GO:0050321 tau-protein kinase activity IEA,ISS --
genes like me logo Genes that share ontologies with MARK1: view
genes like me logo Genes that share phenotypes with MARK1: view

Animal Model Products

miRNA for MARK1 Gene

miRTarBase miRNAs that target MARK1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MARK1 Gene

Localization for MARK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MARK1 Gene

Cell membrane; Peripheral membrane protein. Cytoplasm, cytoskeleton. Note=Appears to localize to an intracellular network. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MARK1 Gene COMPARTMENTS Subcellular localization image for MARK1 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 3
nucleus 3

No data available for Gene Ontology (GO) - Cellular Components for MARK1 Gene

Pathways & Interactions for MARK1 Gene

genes like me logo Genes that share pathways with MARK1: view

Pathways by source for MARK1 Gene

1 BioSystems pathway for MARK1 Gene

SIGNOR curated interactions for MARK1 Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for MARK1 Gene

None

Drugs & Compounds for MARK1 Gene

(2) Drugs for MARK1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Magnesium Nutra 0

(1) Additional Compounds for MARK1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with MARK1: view

Transcripts for MARK1 Gene

Unigene Clusters for MARK1 Gene

MAP/microtubule affinity-regulating kinase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MARK1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c
SP1: -
SP2: - - -
SP3:
SP4:

Relevant External Links for MARK1 Gene

GeneLoc Exon Structure for
MARK1
ECgene alternative splicing isoforms for
MARK1

Expression for MARK1 Gene

mRNA expression in normal human tissues for MARK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MARK1 Gene

This gene is overexpressed in Lung (46.4) and Fetal Brain (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MARK1 Gene



SOURCE GeneReport for Unigene cluster for MARK1 Gene Hs.497806

mRNA Expression by UniProt/SwissProt for MARK1 Gene

Q9P0L2-MARK1_HUMAN
Tissue specificity: Highly expressed in heart, skeletal muscle, brain, fetal brain and fetal kidney.
genes like me logo Genes that share expression patterns with MARK1: view

Protein tissue co-expression partners for MARK1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for MARK1 Gene

Orthologs for MARK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MARK1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MARK1 35
  • 92.2 (n)
  • 97.11 (a)
-- 36
  • 95 (a)
OneToMany
MARK1 36
  • 96 (a)
OneToMany
dog
(Canis familiaris)
Mammalia MARK1 35
  • 93.46 (n)
  • 97.56 (a)
MARK1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mark1 35
  • 87 (n)
  • 94.34 (a)
Mark1 16
Mark1 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MARK1 35
  • 99.62 (n)
  • 99.37 (a)
MARK1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mark1 35
  • 87.6 (n)
  • 94.58 (a)
oppossum
(Monodelphis domestica)
Mammalia MARK1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MARK1 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves MARK1 35
  • 84.21 (n)
  • 92.32 (a)
MARK1 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MARK1 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mark1 35
  • 76.36 (n)
  • 88.87 (a)
zebrafish
(Danio rerio)
Actinopterygii mark1 35
  • 71.05 (n)
  • 83.98 (a)
mark1 36
  • 90 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG15072 37
  • 48 (a)
CG3105 37
  • 30 (a)
KP78a 37
  • 60 (a)
KP78b 37
  • 46 (a)
par-1 37
  • 50 (a)
par-1 36
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea B0511.4 37
  • 36 (a)
DC2.7a 37
  • 28 (a)
F23C8.8 37
  • 31 (a)
kin-29 37
  • 42 (a)
R02C2.1 37
  • 33 (a)
Y38H8A.4 37
  • 33 (a)
par-1 36
  • 36 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToMany
Species with no ortholog for MARK1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MARK1 Gene

ENSEMBL:
Gene Tree for MARK1 (if available)
TreeFam:
Gene Tree for MARK1 (if available)

Paralogs for MARK1 Gene

Pseudogenes.org Pseudogenes for MARK1 Gene

genes like me logo Genes that share paralogs with MARK1: view

Variants for MARK1 Gene

Sequence variations from dbSNP and Humsavar for MARK1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs12123778 - 220,661,822(+) CATCA(A/G)GGGAA reference, missense
VAR_040760 A gastric adenocarcinoma sample
VAR_040761 An ovarian serous carcinoma sample
rs56212551 - 220,652,002(+) TGTCT(A/G)TGAGT reference, missense
rs55691439 - 220,652,147(+) CCGGC(C/T)TGGGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MARK1 Gene

Variant ID Type Subtype PubMed ID
nsv508061 CNV Loss 20534489
esv2470287 CNV Insertion 19546169

Variation tolerance for MARK1 Gene

Residual Variation Intolerance Score: 9.51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.43; 71.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MARK1 Gene

HapMap Linkage Disequilibrium report
MARK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MARK1 Gene

Disorders for MARK1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MARK1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
tauopathy
  • tauopathies
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards
Search MARK1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MARK1_HUMAN
  • Note=Genetic variations in MARK1 may be associated with susceptibility to autism. MARK1 is overexpressed in the prefrontal cortex of patients with autism and causes changes in the function of cortical dendrites.

Relevant External Links for MARK1

Genetic Association Database (GAD)
MARK1
Human Genome Epidemiology (HuGE) Navigator
MARK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MARK1
genes like me logo Genes that share disorders with MARK1: view

No data available for Genatlas for MARK1 Gene

Publications for MARK1 Gene

  1. Convergent evidence identifying MAP/microtubule affinity-regulating kinase 1 (MARK1) as a susceptibility gene for autism. (PMID: 18492799) Maussion G. … Simonneau M. (Hum. Mol. Genet. 2008) 3 4 23 48 67
  2. MARK - a novel family of protein kinases that phosphorylate microtubule-associated proteins and trigger microtubule disruption. (PMID: 9108484) Drewes G. … Mandelkow E. (Cell 1997) 2 3
  3. Mark/Par-1 marking the polarity of migrating neurons. (PMID: 24243102) Reiner O. … Sapir T. (Adv. Exp. Med. Biol. 2014) 3
  4. A genetic screen identifies an LKB1-MARK signalling axis controlling the Hippo-YAP pathway. (PMID: 24362629) Mohseni M. … Camargo F.D. (Nat. Cell Biol. 2014) 3
  5. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3

Products for MARK1 Gene

Sources for MARK1 Gene

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