• Gene id: 11184

Gene Summary

• Gene Symbol: MAP4K1   Gene   UCSC   Ensembl
• Aliases: HPK1
• Gene name: mitogen-activated protein kinase kinase kinase kinase 1
• Alternate names: mitogen-activated protein kinase kinase kinase kinase 1, MAPK/ERK kinase kinase kinase 1, MEK kinase kinase 1, MEKKK 1, hematopoietic progenitor kinase 1,
• Gene location: 19q13.2 (38617952: 38587640)     Exons: 33     NC_000019.10
• OMIM: 601983

Protein Summary

• Protein general information: Q92918  
  • Name: Mitogen activated protein kinase kinase kinase kinase 1 (EC 2.7.11.1) (Hematopoietic progenitor kinase) (MAPK/ERK kinase kinase kinase 1) (MEK kinase kinase 1) (MEKKK 1)
  • Length: 833  
  • Mass: 91296
  • Tissue specificity: Expressed primarily in hematopoietic organs, including bone marrow, spleen and thymus. Also expressed at very low levels in lung, kidney, mammary glands and small intestine. {ECO
• Sequence:

  MDVVDPDIFNRDPRDHYDLLQRLGGGTYGEVFKARDKVSGDLVALKMVKMEPDDDVSTLQKEILILKTCRHANIV
  AYHGSYLWLQKLWICMEFCGAGSLQDIYQVTGSLSELQISYVCREVLQGLAYLHSQKKIHRDIKGANILINDAGE
  VRLADFGISAQIGATLARRLSFIGTPYWMAPEVAAVALKGGYNELCDIWSLGITAIELAELQPPLFDVHPLRVLF
  LMTKSGYQPPRLKEKGKWSAAFHNFIKVTLTKSPKKRPSATKMLSHQLVSQPGLNRGLILDLLDKLKNPGKGPSI
  GDIEDEEPELPPAIPRRIRSTHRSSSLGIPDADCCRRHMEFRKLRGMETRPPANTARLQPPRDLRSSSPRKQLSE
  SSDDDYDDVDIPTPAEDTPPPLPPKPKFRSPSDEGPGSMGDDGQLSPGVLVRCASGPPPNSPRPGPPPSTSSPHL
  TAHSEPSLWNPPSRELDKPPLLPPKKEKMKRKGCALLVKLFNGCPLRIHSTAAWTHPSTKDQHLLLGAEEGIFIL
  NRNDQEATLEMLFPSRTTWVYSINNVLMSLSGKTPHLYSHSILGLLERKETRAGNPIAHISPHRLLARKNMVSTK
  IQDTKGCRACCVAEGASSGGPFLCGALETSVVLLQWYQPMNKFLLVRQVLFPLPTPLSVFALLTGPGSELPAVCI
  GVSPGRPGKSVLFHTVRFGALSCWLGEMSTEHRGPVQVTQVEEDMVMVLMDGSVKLVTPEGSPVRGLRTPEIPMT
  EAVEAVAMVGGQLQAFWKHGVQVWALGSDQLLQELRDPTLTFRLLGSPRLECSGTISPHCNLLLPGSSNSPASAS
  RVAGITGL

• Structural information:
  • Protein Domains: (17..27-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159-)
    (495..80-)
    (/note="CNH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00795"-)
  • Interpro: IPR001180  IPR011009  IPR021160  IPR000719  IPR017441  
  • Prosite: PS50219 PS00107 PS50011
  • PDB: 6CQD 6CQE 6CQF 6NFY 6NFZ 6NG0
  • PDBsum: 6CQD 6CQE 6CQF 6NFY 6NFZ 6NG0
  • DIP: 31019
  • STRING: ENSP00000465039
• Other Databases: GeneCards:  MAP4K1  Malacards:  MAP4K1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031098	stress-activated protein kinase signaling cascade	IBA	biological process
GO:0023014	signal transduction by protein phosphorylation	IBA	biological process
GO:0032147	activation of protein kinase activity	IBA	biological process
GO:0008349	MAP kinase kinase kinase kinase activity	IBA	molecular function
GO:0007346	regulation of mitotic cell cycle	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0008283	cell population proliferation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0008349	MAP kinase kinase kinase kinase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004672	protein kinase activity	TAS	molecular function
GO:0007257	activation of JUN kinase activity	TAS	biological process
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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:1904628	cellular response to phorbol 13-acetate 12-myristate	IDA	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0008349	MAP kinase kinase kinase kinase activity	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0007257	activation of JUN kinase activity	IDA	biological process
GO:0000185	activation of MAPKKK activity	IC	biological process
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq