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MARK4 (MAP/microtubule affinity-regulating kinase 4)

Written2003-05Alessandro Beghini
University of Milan, Medical Faculty, Department of Biology, Genetics for Medical Sciences, via Viotti 5, 20133-Milan, Italy

(Note : for Links provided by Atlas : click)

Identity

Other namesMARKL1
KIAA1860
HGNC (Hugo) MARK4
LocusID (NCBI) 57787
Atlas_Id 419
Location 19q13.32  [Link to chromosome band 19q13]
Location_base_pair Starts at 45754516 and ends at 45808541 bp from pter ( according to hg19-Feb_2009)  [Mapping MARK4.png]
 
Fusion genes
(updated 2016)
MARK4 (19q13.32) / LYPD5 (19q13.31)PLAUR (19q13.31) / MARK4 (19q13.32)THAP12 (11q13.5) / MARK4 (19q13.32)

DNA/RNA

 
Description Spans 55,6 kb; 18 exons
Transcription 3,6kb mRNA of MARK4S isoform, 3,22kb of MARK4L isoform (alternative splicing-skipping of exon 16, which leads to a change in the reading frame ).

Protein

 
Description 688 amino acids (aa) for MARK4S isoform and 752 aa for MARK4L isoform; belongs to the MARK family of protein kinases and contains from aa 59 to 314 a Serine-Threonine kinase catalytic domain with two activating phosphorylation sites. A short sequence (T region) contains a putative membrane-targeting motif. This region is followed by a ubiquitin-associated (UBA) domain. The spacer is the least-conserved region among MARKs proteins. This region is followed by a strikingly conserved C-terminal domain. In MARK4 the C-terminal domain differs between MARK4S and MARK4L isoforms.
Expression The MARK4S isoform is predominantly expressed in the brain and at low levels in the heart. The MARK4L isoform is expressed ubiquitously in all tissues, with a highly abundant expression in testis, neural progenitors and glial tumors. MARK4L is downregulated during glial differentiation.
Localisation Protein was detected homogeneously in cytoplasm.
Function MARK4 is considered to play a role as a messenger of the Wnt-signaling pathway. MARK4L represents a mitogenic-associated isoform.
Homology MARK1, MARK2 (Emk1), MARK3 (p78/C-TAK1), par1, kin1

Mutations

Note Mutations have not been detected.

Implicated in

Note
Entity Hepatocellular carcinogenesis
Oncogenesis RT-PCR anaysis detected upregulated expression in nearly all clinical hepatocellular carcinoma cells in which nuclear accumulation of b-catenin was observed.
  
Entity Up-regulation and overexpression of MARK4 has been described in glial tumors and glioblastoma cell lines.
Oncogenesis MARK4 gene activation (enhanced expression and/or amplification) may result from intrachromosomal duplication upon 19q rearrangements.
  

Bibliography

The neural progenitor-restricted isoform of the MARK4 gene in 19q13.2 is upregulated in human gliomas and overexpressed in a subset of glioblastoma cell lines.
Beghini A, Magnani I, Roversi G, Piepoli T, Di Terlizzi S, Moroni RF, Pollo B, Fuhrman Conti AM, Cowell JK, Finocchiaro G, Larizza L
Oncogene. 2003 ; 22 (17) : 2581-2591.
PMID 12735302
 
MAPs, MARKs and microtubule dynamics.
Drewes G, Ebneth A, Mandelkow EM
Trends in biochemical sciences. 1998 ; 23 (8) : 307-311.
PMID 9757832
 
Isolation of a novel human gene, MARKL1, homologous to MARK3 and its involvement in hepatocellular carcinogenesis.
Kato T, Satoh S, Okabe H, Kitahara O, Ono K, Kihara C, Tanaka T, Tsunoda T, Yamaoka Y, Nakamura Y, Furukawa Y
Neoplasia (New York, N.Y.). 2001 ; 3 (1) : 4-9.
PMID 11326310
 
Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O
DNA research : an international journal for rapid publication of reports on genes and genomes. 2001 ; 8 (2) : 85-95.
PMID 11347906
 

Citation

This paper should be referenced as such :
Beghini, A
MARK4 (MAP/microtubule affinity-regulating kinase 4)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(3):162-164.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/MARK4ID419.html


External links

Nomenclature
HGNC (Hugo)MARK4   13538
Cards
AtlasMARK4ID419
Entrez_Gene (NCBI)MARK4  57787  microtubule affinity regulating kinase 4
AliasesMARK4L; MARK4S; MARKL1; MARKL1L; 
PAR-1D
GeneCards (Weizmann)MARK4
Ensembl hg19 (Hinxton)ENSG00000007047 [Gene_View]  chr19:45754516-45808541 [Contig_View]  MARK4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000007047 [Gene_View]  chr19:45754516-45808541 [Contig_View]  MARK4 [Vega]
ICGC DataPortalENSG00000007047
TCGA cBioPortalMARK4
AceView (NCBI)MARK4
Genatlas (Paris)MARK4
WikiGenes57787
SOURCE (Princeton)MARK4
Genomic and cartography
GoldenPath hg19 (UCSC)MARK4  -     chr19:45754516-45808541 +  19q13.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MARK4  -     19q13.32   [Description]    (hg38-Dec_2013)
EnsemblMARK4 - 19q13.32 [CytoView hg19]  MARK4 - 19q13.32 [CytoView hg38]
Mapping of homologs : NCBIMARK4 [Mapview hg19]  MARK4 [Mapview hg38]
OMIM606495   
Gene and transcription
Genbank (Entrez)AB049127 AB058763 AB073663 AB088047 AK027619
RefSeq transcript (Entrez)NM_001199867 NM_031417
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)MARK4
Cluster EST : UnigeneHs.34314 [ NCBI ]
CGAP (NCI)Hs.34314
Alternative Splicing GalleryENSG00000007047
Gene ExpressionMARK4 [ NCBI-GEO ]   MARK4 [ EBI - ARRAY_EXPRESS ]   MARK4 [ SEEK ]   MARK4 [ MEM ]
Gene Expression Viewer (FireBrowse)MARK4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57787
GTEX Portal (Tissue expression)MARK4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96L34 (Uniprot)
NextProtQ96L34  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96L34
Splice isoforms : SwissVarQ96L34 (Swissvar)
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
PhosPhoSitePlusQ96L34
Domaine pattern : Prosite (Expaxy)KA1 (PS50032)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)    UBA (PS50030)   
Domains : Interpro (EBI)KA1/Ssp2_C    KA1_dom    Kinase-like_dom    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_dual-sp_kinase    Ser/Thr_kinase_AS    UBA   
Domain families : Pfam (Sanger)KA1 (PF02149)    Pkinase (PF00069)    UBA (PF00627)   
Domain families : Pfam (NCBI)pfam02149    pfam00069    pfam00627   
Domain families : Smart (EMBL)S_TKc (SM00220)  UBA (SM00165)  
DMDM Disease mutations57787
Blocks (Seattle)MARK4
PDB (SRS)5ES1   
PDB (PDBSum)5ES1   
PDB (IMB)5ES1   
PDB (RSDB)5ES1   
Structural Biology KnowledgeBase5ES1   
SCOP (Structural Classification of Proteins)5ES1   
CATH (Classification of proteins structures)5ES1   
SuperfamilyQ96L34
Human Protein AtlasENSG00000007047
Peptide AtlasQ96L34
HPRD09402
IPIIPI00064797   IPI00297959   IPI00020326   IPI00450789   IPI00384052   IPI01013157   
Protein Interaction databases
DIP (DOE-UCLA)Q96L34
IntAct (EBI)Q96L34
FunCoupENSG00000007047
BioGRIDMARK4
STRING (EMBL)MARK4
ZODIACMARK4
Ontologies - Pathways
QuickGOQ96L34
Ontology : AmiGOmicrotubule cytoskeleton organization  microtubule bundle formation  protein serine/threonine kinase activity  protein binding  ATP binding  centrosome  microtubule organizing center  cytosol  protein phosphorylation  mitotic nuclear division  nervous system development  microtubule binding  microtubule cytoskeleton  cell projection organization  ciliary basal body  neuron projection  gamma-tubulin binding  positive regulation of programmed cell death  ubiquitin binding  tau-protein kinase activity  cell division  
Ontology : EGO-EBImicrotubule cytoskeleton organization  microtubule bundle formation  protein serine/threonine kinase activity  protein binding  ATP binding  centrosome  microtubule organizing center  cytosol  protein phosphorylation  mitotic nuclear division  nervous system development  microtubule binding  microtubule cytoskeleton  cell projection organization  ciliary basal body  neuron projection  gamma-tubulin binding  positive regulation of programmed cell death  ubiquitin binding  tau-protein kinase activity  cell division  
REACTOMEQ96L34 [protein]
REACTOME PathwaysR-HSA-5620912 Anchoring of the basal body to the plasma membrane [pathway]
NDEx NetworkMARK4
Atlas of Cancer Signalling NetworkMARK4
Wikipedia pathwaysMARK4
Orthology - Evolution
OrthoDB57787
GeneTree (enSembl)ENSG00000007047
Phylogenetic Trees/Animal Genes : TreeFamMARK4
Homologs : HomoloGeneMARK4
Homology/Alignments : Family Browser (UCSC)MARK4
Gene fusions - Rearrangements
Fusion : MitelmanMARK4/LYPD5 [19q13.32/19q13.31]  
Fusion : MitelmanPLAUR/MARK4 [19q13.31/19q13.32]  [t(19;19)(q13;q13)]  
Fusion : MitelmanPRKRIR/MARK4 [11q13.5/19q13.32]  [t(11;19)(q13;q13)]  
Fusion: TCGAMARK4 19q13.32 LYPD5 19q13.31 BRCA
Fusion: TCGAPLAUR 19q13.31 MARK4 19q13.32 LAML
Fusion: TCGAPRKRIR 11q13.5 MARK4 19q13.32 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerMARK4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MARK4
dbVarMARK4
ClinVarMARK4
1000_GenomesMARK4 
Exome Variant ServerMARK4
ExAC (Exome Aggregation Consortium)MARK4 (select the gene name)
Genetic variants : HAPMAP57787
Genomic Variants (DGV)MARK4 [DGVbeta]
Mutations
ICGC Data PortalMARK4 
TCGA Data PortalMARK4 
Broad Tumor PortalMARK4
OASIS PortalMARK4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMARK4 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MARK4
DgiDB (Drug Gene Interaction Database)MARK4
DoCM (Curated mutations)MARK4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MARK4 (select a term)
intoGenMARK4
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)19:45754516-45808541  ENSG00000007047
CONAN: Copy Number AnalysisMARK4 
Mutations and Diseases : HGMDMARK4
OMIM606495   
MedgenMARK4
Genetic Testing Registry MARK4
NextProtQ96L34 [Medical]
TSGene57787
GENETestsMARK4
Huge Navigator MARK4 [HugePedia]
snp3D : Map Gene to Disease57787
BioCentury BCIQMARK4
ClinGenMARK4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57787
Chemical/Pharm GKB GenePA30641
Clinical trialMARK4
Miscellaneous
canSAR (ICR)MARK4 (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMARK4
EVEXMARK4
GoPubMedMARK4
iHOPMARK4
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Sep 28 16:00:07 CEST 2016

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