Aliases for MARK1 Gene

Aliases for MARK1 Gene

  • Microtubule Affinity Regulating Kinase 1 2 3 5
  • MAP/Microtubule Affinity-Regulating Kinase 1 2 3 4
  • MARK 2 3 4
  • Serine/Threonine-Protein Kinase MARK1 3 4
  • PAR1 Homolog C 3 4
  • EC 2.7.11.1 4 51
  • Par-1c 3 4
  • Par1c 3 4
  • EC 2.7.11.26 4
  • EC 2.7.11 51
  • KIAA1477 4
  • PAR-1C 2
  • MARK1 5

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 Peutz-Jeghers Syndrome and Autism. Among its related pathways are Glucose / Energy Metabolism and Cytoskeletal Signaling. Gene Ontology (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 MARK3.

UniProtKB/Swiss-Prot Summary for MARK1 Gene

  • 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 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

Additional gene information for MARK1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MARK1 Gene

Genomics for MARK1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MARK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J220527 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +1.1 1129 4.3 RNF2 PRDM10 ZNF629 ZNF692 FOXA1 LARP7 PRDM1 ZIC2 ZSCAN4 POLR2A MARK1 NONHSAG004350.2 RAB3GAP2 RPS15AP12 C1orf115 lnc-RAB3GAP2-7 RF00017-481 RN7SL464P
GH01J220367 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 5.1 -158.5 -158513 4 CTCF PRDM10 ZNF629 PRDM1 ZNF501 RUNX3 CTBP1 CEBPB ZNF316 OSR2 MARK1 ENSG00000226927 lnc-MARK1-4 RAB3GAP2
GH01J220511 Enhancer 0.7 Ensembl ENCODE 6.9 -16.3 -16272 1.3 CEBPG CTCF NFE2 CEBPB ZNF316 RAD21 SMC3 MAFK FOS MAFF MARK1 LINC01352 piR-34009-005 lnc-MARK1-1 RAB3GAP2
GH01J221334 Enhancer 1 Ensembl ENCODE 4.6 +807.1 807065 3.6 ZNF776 ZSCAN4 POLR2A SP1 ZNF561 SCRT2 TCF7 TCF7L2 JUND ZXDB LINC02817 MARK1 piR-53518-001 LOC105372932 DUSP10 HLX
GH01J220483 Enhancer 0.6 Ensembl ENCODE 7.4 -43.9 -43861 1.9 CEBPB ZFHX2 ATF2 EGR2 MARK1 C1orf115 LINC02779 piR-61190 RAB3GAP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MARK1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MARK1

Top Transcription factor binding sites by QIAGEN in the MARK1 gene promoter:
  • aMEF-2
  • AP-1
  • ARP-1
  • ATF-2
  • c-Jun
  • IRF-1
  • MEF-2A
  • MyoD
  • p300

Genomic Locations for MARK1 Gene

Genomic Locations for MARK1 Gene
chr1:220,528,136-220,664,461
(GRCh38/hg38)
Size:
136,326 bases
Orientation:
Plus strand
chr1:220,701,568-220,837,803
(GRCh37/hg19)
Size:
136,236 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:
    • Interacts with MAPT/TAU.
    SequenceCaution:
    • Sequence=BAA96001.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB55152.1; Type=Frameshift; Evidence={ECO:0000305};
    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).

    Three dimensional structures from OCA and Proteopedia for MARK1 Gene

    Alternative splice isoforms for MARK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MARK1 Gene

Selected DME Specific Peptides for MARK1 Gene

Q9P0L2:
  • SLQKLFREVRIMK
  • LTGREVA
  • TIGKGNFA
  • GPEVDVWS
  • VQWEMEVCKLPRLSLNGVRFKRISGTS
  • LVAHGRM
  • KIIDKTQL
  • YNGPPASPS
  • RRNTYVC
  • FRQIVSA
  • EYASGGE
  • FAKVKLA
  • RPSSDLNNST
  • WSLGVILY
  • RQIVSAV
  • NLKELRERVLRGKYR
  • GEVFDYLV
  • DFGFSNEFT
  • WSLGVILYTLVSGSLPFDG
  • GHEEEELKP
  • LNHPNIVKLFEVIETEKTLYL
  • GSPPYAAPE
  • LVLNPIKRG
  • DEQPHIGNYRL
  • REIRKVLDAN
  • NHPNIVKL
  • IVHRDLK

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

Domains & Families for MARK1 Gene

Gene Families for MARK1 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for MARK1 Gene

InterPro:
Blocks:
  • Ubiquitin-associated domain
  • Kinase-associated, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for MARK1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58728, highly similar to Serine/threonine-protein kinase MARK1 (EC 2.7.11.1) (B4DIB3_HUMAN)
  • MAP/microtubule affinity-regulating kinase 1 (MARK1_HUMAN)

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).
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 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 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:14976552};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:14976552};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[tau protein]-L-serine + ATP = [tau protein]-O-phospho-L-serine + ADP + H(+); Xref=Rhea:RHEA:12801, Rhea:RHEA-COMP:13701, Rhea:RHEA-COMP:13702, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.26;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[tau protein]-L-threonine + ATP = [tau protein]-O-phospho-L-threonine + ADP + H(+); Xref=Rhea:RHEA:53904, Rhea:RHEA-COMP:13703, Rhea:RHEA-COMP:13704, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.26;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by phosphorylation at Ser-219 (By similarity). Activated by phosphorylation on Thr-215.

Enzyme Numbers (IUBMB) for MARK1 Gene

Phenotypes From GWAS Catalog for MARK1 Gene

Gene Ontology (GO) - Molecular Function for MARK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IEA,IDA 14976552
GO:0001786 phosphatidylserine binding IDA 21145462
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA,NAS 28386764
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

  • Taconic Biosciences Mouse Models for MARK1

CRISPR Products

miRNA for MARK1 Gene

miRTarBase miRNAs that target MARK1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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. Cytoplasm. Cell projection, dendrite. Note=Appears to localize to an intracellular network. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MARK1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
nucleus 3
cytosol 3
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MARK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,ISS --
GO:0005856 cytoskeleton IEA,ISS --
GO:0005886 plasma membrane IEA,IDA 21145462
GO:0015630 microtubule cytoskeleton TAS 9108484
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MARK1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MARK1 Gene

Pathways & Interactions for MARK1 Gene

PathCards logo

SuperPathways for MARK1 Gene

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

Pathways by source for MARK1 Gene

2 Cell Signaling Technology pathways for MARK1 Gene

SIGNOR curated interactions for MARK1 Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for MARK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IEA,ISS --
GO:0001764 neuron migration IEA,ISS --
GO:0006468 protein phosphorylation IEA,IMP 23666762
GO:0007010 cytoskeleton organization IEA,ISS --
GO:0010975 regulation of neuron projection development IEA,ISS --
genes like me logo Genes that share ontologies with MARK1: view

Drugs & Compounds for MARK1 Gene

(3) Drugs for MARK1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Magnesium Approved, Experimental, Investigational Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with MARK1: view

Transcripts for MARK1 Gene

mRNA/cDNA for MARK1 Gene

5 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MARK1

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

Expression for MARK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for MARK1 Gene



Protein tissue co-expression partners for MARK1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MARK1

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.

Evidence on tissue expression from TISSUES for MARK1 Gene

  • Nervous system(3.9)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with MARK1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia MARK1 30 31
  • 99.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia -- 31
  • 95 (a)
OneToMany
MARK1 30 31
  • 92.2 (n)
OneToMany
Dog
(Canis familiaris)
Mammalia MARK1 30 31
  • 93.46 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MARK1 31
  • 93 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MARK1 31
  • 90 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mark1 30
  • 87.6 (n)
Mouse
(Mus musculus)
Mammalia Mark1 30 17 31
  • 87 (n)
OneToOne
Chicken
(Gallus gallus)
Aves MARK1 30 31
  • 84.21 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MARK1 31
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mark1 30
  • 76.36 (n)
Zebrafish
(Danio rerio)
Actinopterygii mark1 30 31
  • 71.05 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta KP78a 32
  • 60 (a)
CG15072 32
  • 48 (a)
KP78b 32
  • 46 (a)
par-1 31 32
  • 37 (a)
OneToMany
CG3105 32
  • 30 (a)
Worm
(Caenorhabditis elegans)
Secernentea kin-29 32
  • 42 (a)
par-1 31
  • 36 (a)
OneToMany
B0511.4 32
  • 36 (a)
R02C2.1 32
  • 33 (a)
Y38H8A.4 32
  • 33 (a)
F23C8.8 32
  • 31 (a)
DC2.7a 32
  • 28 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 52 (a)
OneToMany
Species where no ortholog for MARK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MARK1: view image

Paralogs for MARK1 Gene

Paralogs for MARK1 Gene

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

Variants for MARK1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MARK1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
738034 Likely Benign: not provided 220,618,363(+) T/C SYNONYMOUS_VARIANT
756166 Likely Benign: not provided 220,635,855(+) T/C SYNONYMOUS_VARIANT
779300 Likely Benign: not provided 220,618,528(+) C/T SYNONYMOUS_VARIANT
784970 Benign: not provided 220,652,035(+) G/C MISSENSE_VARIANT
VAR_040760 A gastric adenocarcinoma sample p.Tyr233Cys

Additional dbSNP identifiers (rs#s) for MARK1 Gene

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

Variant ID Type Subtype PubMed ID
esv2470287 CNV insertion 19546169
nsv508061 OTHER sequence alteration 20534489

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)

Additional Variant Information for MARK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MARK1

SNP Genotyping and Copy Number Assay Products

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

Disorders for MARK1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
peutz-jeghers syndrome
  • pjs
autism
  • autistic disorder
camptodactyly-tall stature-scoliosis-hearing loss syndrome
  • catshl syndrome
alzheimer disease
  • ad
- 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.

Additional Disease Information for MARK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (Human molecular genetics 2008) 3 4 23 41
  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 4
  3. Role of individual MARK isoforms in phosphorylation of tau at Ser²⁶² in Alzheimer's disease. (PMID: 23666762) Gu GJ … Kamali-Moghaddam M (Neuromolecular medicine 2013) 3 4
  4. Kinase associated-1 domains drive MARK/PAR1 kinases to membrane targets by binding acidic phospholipids. (PMID: 21145462) Moravcevic K … Lemmon MA (Cell 2010) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

Products for MARK1 Gene

  • Signalway Proteins for MARK1

Sources for MARK1 Gene