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    MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 [ Homo sapiens (human) ]

    Gene ID: 11183, updated on 10-Dec-2024

    Summary

    Official Symbol
    MAP4K5provided by HGNC
    Official Full Name
    mitogen-activated protein kinase kinase kinase kinase 5provided by HGNC
    Primary source
    HGNC:HGNC:6867
    See related
    Ensembl:ENSG00000012983 MIM:604923; AllianceGenome:HGNC:6867
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KHS; GCKR; KHS1; MAPKKKK5
    Summary
    This gene encodes a member of the serine/threonine protein kinase family, that is highly similar to yeast SPS1/STE20 kinase. Yeast SPS1/STE20 functions near the beginning of the MAP kinase signal cascades that is essential for yeast pheromone response. This kinase was shown to activate Jun kinase in mammalian cells, which suggested a role in stress response. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in endometrium (RPKM 13.1), ovary (RPKM 10.3) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See MAP4K5 in Genome Data Viewer
    Location:
    14q22.1
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (50418521..50561126, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (44624744..44767297, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50885239..50999287, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene L-2-hydroxyglutarate dehydrogenase Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:50766206-50766899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8355 Neighboring gene microRNA 4504 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50802261-50802882 Neighboring gene distal membrane arm assembly component 2 like Neighboring gene Sharpr-MPRA regulatory region 14884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8357 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:50832542-50832707 Neighboring gene cyclin dependent kinase like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:50838523-50839022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:50838021-50838522 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:50863511-50864010 Neighboring gene zinc finger protein 678 pseudogene Neighboring gene uncharacterized LOC124903312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8359 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5723 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:51026957-51027456 Neighboring gene atlastin GTPase 1 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8360 Neighboring gene RNA, 7SL, cytoplasmic 452, pseudogene Neighboring gene salvador family WW domain containing protein 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (23 hits/532 screens)

    EBI GWAS Catalog

    Description
    Common genetic variation and performance on standardized cognitive tests.
    EBI GWAS Catalog
    Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
    EBI GWAS Catalog
    Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Items 1 - 25 of 26
    Function Evidence Code Pubs
    enables 3-phosphoinositide-dependent protein kinase activity  
    enables AMP-activated protein kinase activity  
    enables ATP binding PubMed 
    enables DNA-dependent protein kinase activity  
    enables MAP kinase kinase kinase kinase activity  
    enables Rho-dependent protein serine/threonine kinase activity  
    enables eukaryotic translation initiation factor 2alpha kinase activity  
    enables histone H2AS1 kinase activity  
    enables histone H2AS121 kinase activity  
    enables histone H2AT120 kinase activity  
    enables histone H2AXS139 kinase activity  
    enables histone H2BS14 kinase activity  
    enables histone H2BS36 kinase activity  
    enables histone H3S10 kinase activity  
    enables histone H3S28 kinase activity  
    enables histone H3S57 kinase activity  
    enables histone H3T11 kinase activity  
    enables histone H3T3 kinase activity  
    enables histone H3T45 kinase activity  
    enables histone H3T6 kinase activity  
    enables histone H4S1 kinase activity  
    enables protein binding PubMed 
    enables protein kinase activity PubMed 
    enables protein serine kinase activity  
    enables protein serine/threonine kinase activity PubMed 
    enables ribosomal protein S6 kinase activity  
    Items 1 - 25 of 26
    Process Evidence Code Pubs
    involved_in MAPK cascade  
    involved_in chromatin remodeling  
    involved_in intracellular signal transduction  
    involved_in intracellular signal transduction PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    located_in cytosol  
    located_in plasma membrane  

    General protein information

    Preferred Names
    mitogen-activated protein kinase kinase kinase kinase 5
    Names
    MAPK/ERK kinase kinase kinase 5
    MEK kinase kinase 5
    MEKKK 5
    germinal center kinase-related
    kinase homologous to SPS1/STE20
    NP_006566.2
    NP_942089.1
    XP_006720076.1
    XP_011534679.1
    XP_011534682.1
    XP_047286846.1
    XP_047286847.1
    XP_047286848.1
    XP_047286849.1
    XP_047286850.1
    XP_047286851.1
    XP_047286852.1
    XP_047286853.1
    XP_047286854.1
    XP_054231276.1
    XP_054231277.1
    XP_054231278.1
    XP_054231279.1
    XP_054231280.1
    XP_054231281.1
    XP_054231282.1
    XP_054231283.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_006575.6 → NP_006566.2  mitogen-activated protein kinase kinase kinase kinase 5

      See identical proteins and their annotated locations for NP_006566.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AK124738, BC036013, CN343360
      Consensus CDS
      CCDS91875.1
      UniProtKB/Swiss-Prot
      A0A0A0MQR1, A0A804HIS2, Q8IYF6, Q9Y4K4
      UniProtKB/TrEMBL
      B2R928
      Related
      ENSP00000507200.1, ENST00000682126.1
      Conserved Domains (2) summary
      smart00036
      Location:511 → 826
      CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2
      cd06646
      Location:10 → 277
      STKc_MAP4K5; Catalytic domain of the Serine/Threonine Kinase, Mitogen-activated protein kinase kinase kinase kinase 5
    2. NM_198794.4 → NP_942089.1  mitogen-activated protein kinase kinase kinase kinase 5

      See identical proteins and their annotated locations for NP_942089.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AK124738, BC036013, CB990293
      Consensus CDS
      CCDS91875.1
      UniProtKB/Swiss-Prot
      A0A0A0MQR1, A0A804HIS2, Q8IYF6, Q9Y4K4
      UniProtKB/TrEMBL
      B2R928
      Related
      ENSP00000013125.5, ENST00000013125.9
      Conserved Domains (2) summary
      smart00036
      Location:511 → 826
      CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2
      cd06646
      Location:10 → 277
      STKc_MAP4K5; Catalytic domain of the Serine/Threonine Kinase, Mitogen-activated protein kinase kinase kinase kinase 5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      50418521..50561126 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430898.1 → XP_047286854.1  mitogen-activated protein kinase kinase kinase kinase 5 isoform X5

      UniProtKB/TrEMBL
      B2R928
    2. XM_047430897.1 → XP_047286853.1  mitogen-activated protein kinase kinase kinase kinase 5 isoform X4

      UniProtKB/TrEMBL
      B2R928
    3. XM_047430893.1 → XP_047286849.1  mitogen-activated protein kinase kinase kinase kinase 5 isoform X1

      UniProtKB/TrEMBL
      B2R928
    4. XM_047430896.1 → XP_047286852.1  mitogen-activated protein kinase kinase kinase kinase 5 isoform X4

      UniProtKB/TrEMBL
      B2R928
    5. XM_006720013.5 → XP_006720076.1  mitogen-activated protein kinase kinase kinase kinase 5 isoform X3

      See identical proteins and their annotated locations for XP_006720076.1

      UniProtKB/Swiss-Prot
      A0A0A0MQR1, A0A804HIS2, Q8IYF6, Q9Y4K4
      UniProtKB/TrEMBL
      B2R928
      Conserved Domains (2) summary
      smart00036
      Location:511 → 826
      CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2
      cd06646
      Location:10 → 277
      STKc_MAP4K5; Catalytic domain of the Serine/Threonine Kinase, Mitogen-activated protein kinase kinase kinase kinase 5
    6. XM_047430891.1 → XP_047286847.1  mitogen-activated protein kinase kinase kinase kinase 5 isoform X1

      UniProtKB/TrEMBL
      B2R928
    7. XM_011536377.4 → XP_011534679.1  mitogen-activated protein kinase kinase kinase kinase 5 isoform X4

      See identical proteins and their annotated locations for XP_011534679.1

      UniProtKB/TrEMBL
      B2R928
      Conserved Domains (3) summary
      smart00036
      Location:511 → 825
      CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2
      smart00220
      Location:20 → 277
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd06646
      Location:10 → 277
      STKc_MAP4K5; Catalytic domain of the Serine/Threonine Kinase, Mitogen-activated protein kinase kinase kinase kinase 5
    8. XM_047430892.1 → XP_047286848.1  mitogen-activated protein kinase kinase kinase kinase 5 isoform X1

      UniProtKB/TrEMBL
      B2R928
    9. XM_047430895.1 → XP_047286851.1  mitogen-activated protein kinase kinase kinase kinase 5 isoform X4

      UniProtKB/TrEMBL
      B2R928
    10. XM_047430894.1 → XP_047286850.1  mitogen-activated protein kinase kinase kinase kinase 5 isoform X2

      UniProtKB/TrEMBL
      B2R928
    11. XM_047430890.1 → XP_047286846.1  mitogen-activated protein kinase kinase kinase kinase 5 isoform X1

      UniProtKB/TrEMBL
      B2R928
    12. XM_011536380.4 → XP_011534682.1  mitogen-activated protein kinase kinase kinase kinase 5 isoform X6

      UniProtKB/TrEMBL
      B3KWC4
      Conserved Domains (1) summary
      smart00036
      Location:222 → 537
      CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      44624744..44767297 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375305.1 → XP_054231280.1  mitogen-activated protein kinase kinase kinase kinase 5 isoform X4

      UniProtKB/TrEMBL
      B2R928
    2. XM_054375302.1 → XP_054231277.1  mitogen-activated protein kinase kinase kinase kinase 5 isoform X3

      UniProtKB/TrEMBL
      B2R928
    3. XM_054375306.1 → XP_054231281.1  mitogen-activated protein kinase kinase kinase kinase 5 isoform X4

      UniProtKB/TrEMBL
      B2R928
    4. XM_054375301.1 → XP_054231276.1  mitogen-activated protein kinase kinase kinase kinase 5 isoform X3

      UniProtKB/TrEMBL
      B2R928
    5. XM_054375303.1 → XP_054231278.1  mitogen-activated protein kinase kinase kinase kinase 5 isoform X4

      UniProtKB/TrEMBL
      B2R928
    6. XM_054375304.1 → XP_054231279.1  mitogen-activated protein kinase kinase kinase kinase 5 isoform X4

      UniProtKB/TrEMBL
      B2R928
    7. XM_054375307.1 → XP_054231282.1  mitogen-activated protein kinase kinase kinase kinase 5 isoform X7

      UniProtKB/TrEMBL
      B2R928
    8. XM_054375308.1 → XP_054231283.1  mitogen-activated protein kinase kinase kinase kinase 5 isoform X6

      UniProtKB/TrEMBL
      B3KWC4
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