• Gene id: 4214

Gene Summary

• Gene Symbol: MAP3K1   Gene   UCSC   Ensembl
• Aliases: MAPKKK1, MEKK, MEKK 1, MEKK1, SRXY6
• Gene name: mitogen-activated protein kinase kinase kinase 1
• Alternate names: mitogen-activated protein kinase kinase kinase 1, MAP/ERK kinase kinase 1, MAPK/ERK kinase kinase 1, MEK kinase 1, mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase,
• Gene location: 5q11.2 (56815542: 56896151)     Exons: 22     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requir

Protein Summary

• Protein general information: Q13233  
  • Name: Mitogen activated protein kinase kinase kinase 1 (EC 2.7.11.25) (MAPK/ERK kinase kinase 1) (MEK kinase 1) (MEKK 1)
  • Length: 1512  
  • Mass: 164470
• Sequence:

  MAAAAGNRASSSGFPGARATSPEAGGGGGALKASSAPAAAAGLLREAGSGGRERADWRRRQLRKVRSVELDQLPE
  QPLFLAASPPASSTSPSPEPADAAGSGTGFQPVAVPPPHGAASRGGAHLTESVAAPDSGASSPAAAEPGEKRAPA
  AEPSPAAAPAGREMENKETLKGLHKMDDRPEERMIREKLKATCMPAWKHEWLERRNRRGPVVVKPIPVKGDGSEM
  NHLAAESPGEVQASAASPASKGRRSPSPGNSPSGRTVKSESPGVRRKRVSPVPFQSGRITPPRRAPSPDGFSPYS
  PEETNRRVNKVMRARLYLLQQIGPNSFLIGGDSPDNKYRVFIGPQNCSCARGTFCIHLLFVMLRVFQLEPSDPML
  WRKTLKNFEVESLFQKYHSRRSSRIKAPSRNTIQKFVSRMSNSHTLSSSSTSTSSSENSIKDEEEQMCPICLLGM
  LDEESLTVCEDGCRNKLHHHCMSIWAEECRRNREPLICPLCRSKWRSHDFYSHELSSPVDSPSSLRAAQQQTVQQ
  QPLAGSRRNQESNFNLTHYGTQQIPPAYKDLAEPWIQVFGMELVGCLFSRNWNVREMALRRLSHDVSGALLLANG
  ESTGNSGGSSGSSPSGGATSGSSQTSISGDVVEACCSVLSMVCADPVYKVYVAALKTLRAMLVYTPCHSLAERIK
  LQRLLQPVVDTILVKCADANSRTSQLSISTLLELCKGQAGELAVGREILKAGSIGIGGVDYVLNCILGNQTESNN
  WQELLGRLCLIDRLLLEFPAEFYPHIVSTDVSQAEPVEIRYKKLLSLLTFALQSIDNSHSMVGKLSRRIYLSSAR
  MVTTVPHVFSKLLEMLSVSSSTHFTRMRRRLMAIADEVEIAEAIQLGVEDTLDGQQDSFLQASVPNNYLETTENS
  SPECTVHLEKTGKGLCATKLSASSEDISERLASISVGPSSSTTTTTTTTEQPKPMVQTKGRPHSQCLNSSPLSHH
  SQLMFPALSTPSSSTPSVPAGTATDVSKHRLQGFIPCRIPSASPQTQRKFSLQFHRNCPENKDSDKLSPVFTQSR
  PLPSSNIHRPKPSRPTPGNTSKQGDPSKNSMTLDLNSSSKCDDSFGCSSNSSNAVIPSDETVFTPVEEKCRLDVN
  TELNSSIEDLLEASMPSSDTTVTFKSEVAVLSPEKAENDDTYKDDVNHNQKCKEKMEAEEEEALAIAMAMSASQD
  ALPIVPQLQVENGEDIIIIQQDTPETLPGHTKAKQPYREDTEWLKGQQIGLGAFSSCYQAQDVGTGTLMAVKQVT
  YVRNTSSEQEEVVEALREEIRMMSHLNHPNIIRMLGATCEKSNYNLFIEWMAGGSVAHLLSKYGAFKESVVINYT
  EQLLRGLSYLHENQIIHRDVKGANLLIDSTGQRLRIADFGAAARLASKGTGAGEFQGQLLGTIAFMAPEVLRGQQ
  YGRSCDVWSVGCAIIEMACAKPPWNAEKHSNHLALIFKIASATTAPSIPSHLSPGLRDVALRCLELQPQDRPPSR
  ELLKHPVFRTTW

• Structural information:
  • Protein Domains: (1243..150-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR011989  IPR016024  IPR011009  IPR000719  IPR017441   IPR008271  IPR001841  IPR013083  IPR007527  
  • Prosite: PS00107 PS50011 PS00108 PS50089 PS50966
  • DIP: 27520
  • STRING: ENSP00000382423
• Other Databases: GeneCards:  MAP3K1  Malacards:  MAP3K1

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: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:0008270	zinc ion binding	IEA	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:0016301	kinase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0000166	nucleotide binding	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:0004709	MAP kinase kinase kinase activity	IEA	molecular function
GO:0004672	protein kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	EXP	molecular function
GO:0004674	protein serine/threonine kinase activity	EXP	molecular function
GO:0004672	protein kinase activity	TAS	molecular function
GO:0002755	MyD88-dependent toll-like receptor signaling pathway	TAS	biological process
GO:0002755	MyD88-dependent toll-like receptor signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0038095	Fc-epsilon receptor signaling pathway	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:0000186	activation of MAPKK activity	IEA	biological process
GO:0000186	activation of MAPKK activity	IEA	biological process
GO:0000165	MAPK cascade	IEA	biological process
GO:0000165	MAPK cascade	IEA	biological process
GO:0004709	MAP kinase kinase kinase activity	NAS	molecular function
GO:0071260	cellular response to mechanical stimulus	IEP	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0006468	protein phosphorylation	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
hsa05166	Human T-cell leukemia virus 1 infection
hsa04120	Ubiquitin mediated proteolysis
hsa04530	Tight junction
hsa05161	Hepatitis B
hsa04722	Neurotrophin signaling pathway
hsa04935	Growth hormone synthesis, secretion and action
hsa04912	GnRH signaling pathway
hsa04622	RIG-I-like receptor signaling pathway

Diseases

Associated diseases	References
46,XY gonadal dysgenesis	KEGG:H00607
46,XY gonadal dysgenesis	KEGG:H00607
Breast cancer	PMID:18036273
Breast cancer	PMID:17997823
46,XY DSD	MIK: 24497709
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray
24497709	46,XY DSD	p.Q1028Q, p.T428T, p.Q1028Q, p. 942insT		4 patients with hypospadias	Male infertility