Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4214
Gene name Gene Name - the full gene name approved by the HGNC.
Mitogen-activated protein kinase kinase kinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAP3K1
Synonyms (NCBI Gene) Gene synonyms aliases
MAPKKK1, MEKK, MEKK 1, MEKK1, SRXY6
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SRXY6
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs56160159 C>T Likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs143853590 G>A,C,T Likely-benign, pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs387906788 T>A,C,G Likely-pathogenic, pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs886041049 G>A Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs1131692053 T>A Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004142 hsa-miR-192-5p Microarray 16822819
MIRT031009 hsa-miR-21-5p Microarray 18591254
MIRT052565 hsa-let-7a-5p CLASH 23622248
MIRT047383 hsa-miR-34a-5p CLASH 23622248
MIRT046560 hsa-let-7g-5p CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
ATF2 Unknown 9710625
JUN Unknown 9710625
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IEA
GO:0000186 Process Activation of MAPKK activity IEA
GO:0002755 Process MyD88-dependent toll-like receptor signaling pathway TAS
GO:0004672 Function Protein kinase activity IDA 15001576
GO:0004672 Function Protein kinase activity TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600982 6848 ENSG00000095015
Protein
UniProt ID Q13233
Protein name Mitogen-activated protein kinase kinase kinase 1 (EC 2.7.11.25) (MAPK/ERK kinase kinase 1) (MEK kinase 1) (MEKK 1) (EC 2.3.2.27)
Protein function Component of a protein kinase signal transduction cascade (PubMed:9808624). Activates the ERK and JNK kinase pathways by phosphorylation of MAP2K1 and MAP2K4 (PubMed:9808624). May phosphorylate the MAPK8/JNK1 kinase (PubMed:17761173). Activates
PDB 6WHB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 1243 1508 Protein kinase domain Domain
Sequence
MAAAAGNRASSSGFPGARATSPEAGGGGGALKASSAPAAAAGLLREAGSGGRERADWRRR
QLRKVRSVELDQLPEQPLFLAASPPASSTSPSPEPADAAGSGTGFQPVAVPPPHGAASRG
GAHLTESVAAPDSGASSPAAAEPGEKRAPAAEPSPAAAPAGREMENKETLKGLHKMDDRP
EERMIREKLKATCMPAWKHEWLERRNRRGPVVVKPIPVKGDGSEMNHLAAESPGEVQASA
ASPASKGRRSPSPGNSPSGRTVKSESPGVRRKRVSPVPFQSGRITPPRRAPSPDGFSPYS
PEETNRRVNKVMRARLYLLQQIGPNSFLIGGDSPDNKYRVFIGPQNCSCARGTFCIHLLF
VMLRVFQLEPSDPMLWRKTLKNFEVESLFQKYHSRRSSRIKAPSRNTIQKFVSRMSNSHT
LSSSSTSTSSSENSIKDEEEQMCPICLLGMLDEESLTVCEDGCRNKLHHHCMSIWAEECR
RNREPLICPLCRSKWRSHDFYSHELSSPVDSPSSLRAAQQQTVQQQPLAGSRRNQESNFN
LTHYGTQQIPPAYKDLAEPWIQVFGMELVGCLFSRNWNVREMALRRLSHDVSGALLLANG
ESTGNSGGSSGSSPSGGATSGSSQTSISGDVVEACCSVLSMVCADPVYKVYVAALKTLRA
MLVYTPCHSLAERIKLQRLLQPVVDTILVKCADANSRTSQLSISTLLELCKGQAGELAVG
REILKAGSIGIGGVDYVLNCILGNQTESNNWQELLGRLCLIDRLLLEFPAEFYPHIVSTD
VSQAEPVEIRYKKLLSLLTFALQSIDNSHSMVGKLSRRIYLSSARMVTTVPHVFSKLLEM
LSVSSSTHFTRMRRRLMAIADEVEIAEAIQLGVEDTLDGQQDSFLQASVPNNYLETTENS
SPECTVHLEKTGKGLCATKLSASSEDISERLASISVGPSSSTTTTTTTTEQPKPMVQTKG
RPHSQCLNSSPLSHHSQLMFPALSTPSSSTPSVPAGTATDVSKHRLQGFIPCRIPSASPQ
TQRKFSLQFHRNCPENKDSDKLSPVFTQSRPLPSSNIHRPKPSRPTPGNTSKQGDPSKNS
MTLDLNSSSKCDDSFGCSSNSSNAVIPSDETVFTPVEEKCRLDVNTELNSSIEDLLEASM
PSSDTTVTFKSEVAVLSPEKAENDDTYKDDVNHNQKCKEKMEAEEEEALAIAMAMSASQD
ALPIVPQLQVENGEDIIIIQQDTPETLPGHTKAKQPYREDTEWLKGQQIGLGAFSSCYQA
QDVGTGTLMAVKQVTYVRNTSSEQEEVVEALREEIRMMSHLNHPNIIRMLGATCEKSNYN
LFIEWMAGGSVAHLLSKYGAFKESVVINYTEQLLRGLSYLHENQIIHRDVKGANLLIDST
GQRLRIADFGAAARLASKGTGAGEFQGQLLGTIAFMAPEVLRGQQYGRSCDVWSVGCAII
EMACAKPPWNAEKHSNHLALIFKIASATTAPSIPSHLSPGLRDVALRCLELQPQDRPPSR
ELLKHPVF
RTTW
Sequence length 1512
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  MAPK signaling pathway
Ubiquitin mediated proteolysis
Tight junction
RIG-I-like receptor signaling pathway
Neurotrophin signaling pathway
GnRH signaling pathway
Growth hormone synthesis, secretion and action
Hepatitis B
Human T-cell leukemia virus 1 infection
  MyD88:MAL(TIRAP) cascade initiated on plasma membrane
FCERI mediated MAPK activation
TRAF6 mediated NF-kB activation
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
MyD88 cascade initiated on plasma membrane
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
46, xy partial gonadal dysgenesis 46,XY partial gonadal dysgenesis rs193922688 21129722
46, xy sex reversal 46,XY SEX REVERSAL 6 rs111033589, rs1592184934, rs121908255, rs121908256, rs606231178, rs104894956, rs104894957, rs104894958, rs104894959, rs104894964, rs606231179, rs104894966, rs104894967, rs104894968, rs104894969
View all (54 more)
12476449, 21129722
Azoospermia Azoospermia rs200969445, rs144567652, rs765353898
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
17529967
Unknown
Disease term Disease name Evidence References Source
Ambiguous genitalia Ambiguous Genitalia ClinVar
Breast Cancer breast cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GenCC, CBGDA
46, XY complete gonadal dysgenesis 46,XY complete gonadal dysgenesis GenCC
46, XY partial gonadal dysgenesis 46,XY partial gonadal dysgenesis GenCC
Associations from Text Mining
Disease Name Relationship Type References
3 methylcrotonyl CoA carboxylase 1 deficiency Associate 26655088
46 XY female Associate 34112222, 36088066
Adenocarcinoma Associate 28581676
Allanson Pantzar McLeod syndrome Associate 33060765
Amyotrophic Lateral Sclerosis Associate 31575382
Androgen Insensitivity Syndrome Associate 32338288, 33060765
Autoimmune Diseases Associate 29339359
Breast Carcinoma In Situ Associate 24743323
Breast Neoplasms Associate 17529967, 17997823, 18355772, 18437204, 18973230, 19028704, 19094228, 19656774, 19843670, 20605201, 21118973, 21194473, 21475998, 22452962, 22532573
View all (34 more)
Breast Neoplasms Inhibit 38003265