Human Gene MAP3K20 (ENST00000338983.7_2) from GENCODE V47lift37
  Description: mitogen-activated protein kinase kinase kinase 20, transcript variant 2 (from RefSeq NM_133646.3)
Gencode Transcript: ENST00000338983.7_2
Gencode Gene: ENSG00000091436.17_10
Transcript (Including UTRs)
   Position: hg19 chr2:173,940,570-174,091,874 Size: 151,305 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr2:173,955,760-174,086,258 Size: 130,499 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:173,940,570-174,091,874)mRNA (may differ from genome)Protein (455 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGeneCardsMalacardsMGI
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MLTK_HUMAN
DESCRIPTION: RecName: Full=Mitogen-activated protein kinase kinase kinase MLT; EC=2.7.11.25; AltName: Full=Human cervical cancer suppressor gene 4 protein; Short=HCCS-4; AltName: Full=Leucine zipper- and sterile alpha motif-containing kinase; AltName: Full=MLK-like mitogen-activated protein triple kinase; AltName: Full=Mixed lineage kinase-related kinase; Short=MLK-related kinase; Short=MRK; AltName: Full=Sterile alpha motif- and leucine zipper-containing kinase AZK;
FUNCTION: Stress-activated component of a protein kinase signal transduction cascade. Regulates the JNK and p38 pathways. Pro- apoptotic. Role in regulation of S and G2 cell cycle checkpoint by direct phosphorylation of CHEK2. Isoform 1, but not isoform 2, causes cell shrinkage and disruption of actin stress fibers. Isoform 1 may have role in neoplastic cell transformation and cancer development. Isoform 1, but not isoform 2, phosphorylates histone H3 at 'Ser-28'.
CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein.
COFACTOR: Magnesium.
ENZYME REGULATION: Activated by phosphorylation by PKN1 and autophosphorylation on Thr-161 and Ser-165.
SUBUNIT: Homodimer. Interacts with PKN1 and ZNF33A.
INTERACTION: Q16512:PKN1; NbExp=2; IntAct=EBI-687346, EBI-602382; O75582:RPS6KA5; NbExp=4; IntAct=EBI-602273, EBI-73869; P63104:YWHAZ; NbExp=4; IntAct=EBI-602273, EBI-347088;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Translocates to the nucleus upon ultraviolet B irradiation.
TISSUE SPECIFICITY: Ubiquitously expressed. Isoform 2 is the predominant form in all tissues examined, except for liver, in which isoform 1 is more highly expressed.
SIMILARITY: Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily.
SIMILARITY: Contains 1 protein kinase domain.
SIMILARITY: Contains 1 SAM (sterile alpha motif) domain.
SEQUENCE CAUTION: Sequence=BAD92211.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MAP3K20
Diseases sorted by gene-association score: split-foot malformation with mesoaxial polydactyly* (1230), split hand-foot malformation 1* (283), congenital fiber-type disproportion* (111), split foot (20)
* = Manually curated disease association

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 51.04 RPKM in Bladder
Total median expression: 597.85 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -73.80195-0.378 Picture PostScript Text
3' UTR -1460.705616-0.260 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR001660 - SAM
IPR013761 - SAM/pointed
IPR021129 - SAM_type1
IPR001245 - Ser-Thr/Tyr_kinase_cat_dom
IPR008271 - Ser/Thr_kinase_AS

Pfam Domains:
PF00069 - Protein kinase domain
PF07714 - Protein tyrosine and serine/threonine kinase

SCOP Domains:
48371 - ARM repeat
56112 - Protein kinase-like (PK-like)
57997 - Tropomyosin

ModBase Predicted Comparative 3D Structure on Q9NYL2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0000287 magnesium ion binding
GO:0003723 RNA binding
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004709 MAP kinase kinase kinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0046872 metal ion binding

Biological Process:
GO:0000077 DNA damage checkpoint
GO:0000186 activation of MAPKK activity
GO:0006468 protein phosphorylation
GO:0007010 cytoskeleton organization
GO:0007049 cell cycle
GO:0007050 cell cycle arrest
GO:0007093 mitotic cell cycle checkpoint
GO:0007257 activation of JUN kinase activity
GO:0008219 cell death
GO:0008283 cell proliferation
GO:0016310 phosphorylation
GO:0030154 cell differentiation
GO:0035556 intracellular signal transduction
GO:0042733 embryonic digit morphogenesis
GO:0043065 positive regulation of apoptotic process
GO:0051403 stress-activated MAPK cascade
GO:0060173 limb development
GO:0071480 cellular response to gamma radiation

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AB041883 - Homo sapiens pk mRNA for protein kinase, complete cds.
AB208974 - Homo sapiens mRNA for Plaucible mixed-lineage kinase protein variant protein.
AK056310 - Homo sapiens cDNA FLJ31748 fis, clone NT2RI2007384, highly similar to Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 2, mRNA.
AF480462 - Homo sapiens mixed lineage kinase-related kinase MRK-beta mRNA, complete cds.
AF480461 - Homo sapiens mixed lineage kinase-related kinase MRK-alpha mRNA, complete cds.
AB030034 - Homo sapiens mlklak mRNA for plaucible mixed-lineage kinase protein, complete cds.
AF465843 - Homo sapiens cervical cancer suppressor gene-4 protein (HCCS-4) mRNA, complete cds.
AK298634 - Homo sapiens cDNA FLJ58036 complete cds, highly similar to Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 2, mRNA.
BC001401 - Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK, mRNA (cDNA clone MGC:808 IMAGE:3051317), complete cds.
AK291825 - Homo sapiens cDNA FLJ77428 complete cds, highly similar to Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 2, mRNA.
AF251441 - Homo sapiens sterile-alpha motif and leucine zipper containing kinase AZK mRNA, complete cds.
AF325454 - Homo sapiens mixed lineage kinase mRNA, partial cds.
CU674692 - Synthetic construct Homo sapiens gateway clone IMAGE:100017309 5' read ZAK mRNA.
KJ893988 - Synthetic construct Homo sapiens clone ccsbBroadEn_03382 ZAK gene, encodes complete protein.
KJ905481 - Synthetic construct Homo sapiens clone ccsbBroadEn_15075 ZAK gene, encodes complete protein.
AB049734 - Homo sapiens mRNA for MLTK-beta, complete cds.
AB384803 - Synthetic construct DNA, clone: pF1KB3419, Homo sapiens MLTK gene for mitogen-activated protein kinase kinase kinase MLT, complete cds, without stop codon, in Flexi system.
AB049733 - Homo sapiens mRNA for MLTK-alpha, complete cds.
AF238255 - Homo sapiens mixed lineage kinase ZAK mRNA, complete cds.
JD130072 - Sequence 111096 from Patent EP1572962.
JD250376 - Sequence 231400 from Patent EP1572962.
AL833180 - Homo sapiens mRNA; cDNA DKFZp667D125 (from clone DKFZp667D125).
DQ573883 - Homo sapiens piRNA piR-41995, complete sequence.
JD485326 - Sequence 466350 from Patent EP1572962.
JD112018 - Sequence 93042 from Patent EP1572962.
JD507942 - Sequence 488966 from Patent EP1572962.
JD097680 - Sequence 78704 from Patent EP1572962.
JD136080 - Sequence 117104 from Patent EP1572962.
JD537384 - Sequence 518408 from Patent EP1572962.
JD136081 - Sequence 117105 from Patent EP1572962.
JD194826 - Sequence 175850 from Patent EP1572962.
JD079446 - Sequence 60470 from Patent EP1572962.
JD130615 - Sequence 111639 from Patent EP1572962.
JD507929 - Sequence 488953 from Patent EP1572962.
JD067376 - Sequence 48400 from Patent EP1572962.
JD367045 - Sequence 348069 from Patent EP1572962.
JD316011 - Sequence 297035 from Patent EP1572962.
JD564024 - Sequence 545048 from Patent EP1572962.
JD068181 - Sequence 49205 from Patent EP1572962.
AK095825 - Homo sapiens cDNA FLJ38506 fis, clone HCHON2000295.
JD248068 - Sequence 229092 from Patent EP1572962.
JD278719 - Sequence 259743 from Patent EP1572962.
JD453904 - Sequence 434928 from Patent EP1572962.
JD110542 - Sequence 91566 from Patent EP1572962.
JD045413 - Sequence 26437 from Patent EP1572962.
JD046796 - Sequence 27820 from Patent EP1572962.
JD166273 - Sequence 147297 from Patent EP1572962.
AK096877 - Homo sapiens cDNA FLJ39558 fis, clone SKMUS2000648.
JD287147 - Sequence 268171 from Patent EP1572962.
JD052553 - Sequence 33577 from Patent EP1572962.
JD377265 - Sequence 358289 from Patent EP1572962.
JD170801 - Sequence 151825 from Patent EP1572962.
JD534512 - Sequence 515536 from Patent EP1572962.
JD042594 - Sequence 23618 from Patent EP1572962.
JD201749 - Sequence 182773 from Patent EP1572962.
JD162054 - Sequence 143078 from Patent EP1572962.
JD166786 - Sequence 147810 from Patent EP1572962.
JD370869 - Sequence 351893 from Patent EP1572962.
JD229766 - Sequence 210790 from Patent EP1572962.
JD046660 - Sequence 27684 from Patent EP1572962.
JD245424 - Sequence 226448 from Patent EP1572962.
JD250652 - Sequence 231676 from Patent EP1572962.
JD317260 - Sequence 298284 from Patent EP1572962.
JD561041 - Sequence 542065 from Patent EP1572962.
JD262331 - Sequence 243355 from Patent EP1572962.
JD381224 - Sequence 362248 from Patent EP1572962.
JD155302 - Sequence 136326 from Patent EP1572962.
JD550435 - Sequence 531459 from Patent EP1572962.
JD538625 - Sequence 519649 from Patent EP1572962.
JD411917 - Sequence 392941 from Patent EP1572962.
JD146670 - Sequence 127694 from Patent EP1572962.
JD083890 - Sequence 64914 from Patent EP1572962.
JD545210 - Sequence 526234 from Patent EP1572962.
JD052681 - Sequence 33705 from Patent EP1572962.
JD384858 - Sequence 365882 from Patent EP1572962.
JD417450 - Sequence 398474 from Patent EP1572962.
JD267048 - Sequence 248072 from Patent EP1572962.
JD129969 - Sequence 110993 from Patent EP1572962.
JD222332 - Sequence 203356 from Patent EP1572962.
JD124248 - Sequence 105272 from Patent EP1572962.
JD047095 - Sequence 28119 from Patent EP1572962.
JD326312 - Sequence 307336 from Patent EP1572962.
JD147269 - Sequence 128293 from Patent EP1572962.
JD508402 - Sequence 489426 from Patent EP1572962.
JD550422 - Sequence 531446 from Patent EP1572962.
JD226027 - Sequence 207051 from Patent EP1572962.
JD263038 - Sequence 244062 from Patent EP1572962.
JD347410 - Sequence 328434 from Patent EP1572962.
JD281148 - Sequence 262172 from Patent EP1572962.
JD357586 - Sequence 338610 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B3KPG2, ENST00000338983.1, ENST00000338983.2, ENST00000338983.3, ENST00000338983.4, ENST00000338983.5, ENST00000338983.6, HCCS4, M3K20_HUMAN, MAP3K20 , MLK7 , MLTK , NM_133646, Q53SX1, Q580W8, Q59GY5, Q86YW8, Q9HCC4, Q9HCC5, Q9HDD2, Q9NYE9, Q9NYL2, uc317vfe.1, uc317vfe.2, ZAK
UCSC ID: ENST00000338983.7_2
RefSeq Accession: NM_133646.3
Protein: Q9NYL2 (aka MLTK_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.