• Gene id: 51776

Gene Summary

• Gene Symbol: MAP3K20   Gene   UCSC   Ensembl
• Aliases: AZK, CNM6, MLK7, MLT, MLTK, MLTKalpha, MLTKbeta, MRK, SFMMP, ZAK, mlklak, pk
• Gene name: mitogen-activated protein kinase kinase kinase 20
• Alternate names: mitogen-activated protein kinase kinase kinase 20, HCCS-4, MLK-like mitogen-activated protein triple kinase, ZAK1 homolog, leucine zipper and sterile-alpha motif kinase, human cervical cancer suppressor gene 4 protein, mitogen-activated protein kinase kinase k,
• Gene location: 2q31.1 (173075434: 173268014)     Exons: 23     NC_000002.12
• Gene summary(Entrez): This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodime
• OMIM: 609479

Protein Summary

• Protein general information: Q9NYL2  
  • Name: Mitogen activated protein kinase kinase kinase 20 (EC 2.7.11.25) (Human cervical cancer suppressor gene 4 protein) (HCCS 4) (Leucine zipper and sterile alpha motif containing kinase) (MLK like mitogen activated protein triple kinase) (Mitogen activated p
  • Length: 800  
  • Mass: 91155
  • 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. {ECO
• Sequence:

  MSSLGASFVQIKFDDLQFFENCGGGSFGSVYRAKWISQDKEVAVKKLLKIEKEAEILSVLSHRNIIQFYGVILEP
  PNYGIVTEYASLGSLYDYINSNRSEEMDMDHIMTWATDVAKGMHYLHMEAPVKVIHRDLKSRNVVIAADGVLKIC
  DFGASRFHNHTTHMSLVGTFPWMAPEVIQSLPVSETCDTYSYGVVLWEMLTREVPFKGLEGLQVAWLVVEKNERL
  TIPSSCPRSFAELLHQCWEADAKKRPSFKQIISILESMSNDTSLPDKCNSFLHNKAEWRCEIEATLERLKKLERD
  LSFKEQELKERERRLKMWEQKLTEQSNTPLLPSFEIGAWTEDDVYCWVQQLVRKGDSSAEMSVYASLFKENNITG
  KRLLLLEEEDLKDMGIVSKGHIIHFKSAIEKLTHDYINLFHFPPLIKDSGGEPEENEEKIVNLELVFGFHLKPGT
  GPQDCKWKMYMEMDGDEIAITYIKDVTFNTNLPDAEILKMTKPPFVMEKWIVGIAKSQTVECTVTYESDVRTPKS
  TKHVHSIQWSRTKPQDEVKAVQLAIQTLFTNSDGNPGSRSDSSADCQWLDTLRMRQIASNTSLQRSQSNPILGSP
  FFSHFDGQDSYAAAVRRPQVPIKYQQITPVNQSRSSSPTQYGLTKNFSSLHLNSRDSGFSSGNTDTSSERGRYSD
  RSRNKYGRGSISLNSSPRGRYSGKSQHSTPSRGRYPGKFYRVSQSALNPHQSPDFKRSPRDLHQPNTIPGMPLHP
  ETDSRASEEDSKVSEGGWTKVEYRKKPHRPSPAKTNKERARGDHRGWRNF

• Structural information:
  • Protein Domains: (16..27-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159-)
    (339..41-)
    (/note="SAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR011009  IPR032938  IPR000719  IPR001660  IPR013761   IPR001245  IPR008271  
  • Prosite: PS50011 PS00108 PS50105
  • PDB: 5HES 5X5O 6JUT
  • PDBsum: 5HES 5X5O 6JUT
  • STRING: ENSP00000364361
• Other Databases: GeneCards:  MAP3K20  Malacards:  MAP3K20

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042733	embryonic digit morphogenesis	IMP	biological process
GO:0060173	limb development	IMP	biological process
GO:0004709	MAP kinase kinase kinase activity	IEA	molecular function
GO:0000186	activation of MAPKK activity	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0016310	phosphorylation	IEA	biological process
GO:0004709	MAP kinase kinase kinase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0004709	MAP kinase kinase kinase activity	IEA	molecular function
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0060173	limb development	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0051403	stress-activated MAPK cascade	IDA	biological process
GO:0004709	MAP kinase kinase kinase activity	IDA	molecular function
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0071480	cellular response to gamma radiation	IDA	biological process
GO:0007257	activation of JUN kinase activity	IDA	biological process
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0007093	mitotic cell cycle checkpoint	IDA	biological process
GO:0005524	ATP binding	IDA	molecular function
GO:0008219	cell death	NAS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0007050	cell cycle arrest	IMP	biological process
GO:0000077	DNA damage checkpoint	IMP	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0000186	activation of MAPKK activity	TAS	biological process
GO:0030154	cell differentiation	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway

Diseases

Associated diseases	References
Split-hand/foot malformation	KEGG:H00471
Split-hand/foot malformation	KEGG:H00471
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881