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    MYD88 myeloid differentiation primary response 88 [ Homo sapiens (human) ]

    Gene ID: 4615, updated on 29-May-2016
    Official Symbol
    MYD88provided by HGNC
    Official Full Name
    myeloid differentiation primary response 88provided by HGNC
    Primary source
    HGNC:HGNC:7562
    See related
    Ensembl:ENSG00000172936 HPRD:03703; MIM:602170; Vega:OTTHUMG00000131083
    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
    MYD88D
    Summary
    This gene encodes a cytosolic adapter protein that plays a central role in the innate and adaptive immune response. This protein functions as an essential signal transducer in the interleukin-1 and Toll-like receptor signaling pathways. These pathways regulate that activation of numerous proinflammatory genes. The encoded protein consists of an N-terminal death domain and a C-terminal Toll-interleukin1 receptor domain. Patients with defects in this gene have an increased susceptibility to pyogenic bacterial infections. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
    Orthologs
    Location:
    3p22
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (38138478..38143022)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (38179969..38184513)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene deleted in lung and esophageal cancer 1 Neighboring gene uncharacterized LOC105377033 Neighboring gene acetyl-CoA acyltransferase 1 Neighboring gene uncharacterized LOC101928234 Neighboring gene oxidative stress responsive 1 Neighboring gene cell division cycle 42 pseudogene Neighboring gene solute carrier family 22 member 13

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr-induced IL-6 production depends on the activation of NFkappaB and the involvement of C/EBP-beta, TLR4, and MyD88 PubMed

    Go to the HIV-1, Human Interaction Database

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      TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation, organism-specific biosystemTRAF6 mediates NFkB activation via canonical phosphorylation of IKK complex by TAK1. TRAF6 and TAK1 also regulate MAPK cascades leading to the activation of AP-1.
    • TRIF-mediated TLR3/TLR4 signaling, organism-specific biosystem (from REACTOME)
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    • Toll Like Receptor 10 (TLR10) Cascade, organism-specific biosystem (from REACTOME)
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    • Toll Like Receptor 2 (TLR2) Cascade, organism-specific biosystem (from REACTOME)
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    • Toll Like Receptor 3 (TLR3) Cascade, organism-specific biosystem (from REACTOME)
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    • Toll Like Receptor 4 (TLR4) Cascade, organism-specific biosystem (from REACTOME)
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    • Toll Like Receptor 5 (TLR5) Cascade, organism-specific biosystem (from REACTOME)
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      Toll-like receptor signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
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      Toll-like receptor signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
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      Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
    • Tuberculosis, conserved biosystem (from KEGG)
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    • ZBP1(DAI) mediated induction of type I IFNs, organism-specific biosystem (from REACTOME)
      ZBP1(DAI) mediated induction of type I IFNs, organism-specific biosystemZ-DNA-binding protein-1 (ZBP1), also known as, DNA-dependent activator of IFN-regulatory factors (DAI) was reported to initiate innate immune responses in murine L929 cells upon stimulation by multip...
    • p75 NTR receptor-mediated signalling, organism-specific biosystem (from REACTOME)
      p75 NTR receptor-mediated signalling, organism-specific biosystemBesides signalling through the tyrosine kinase receptors TRK A, B, and C, the mature neurotrophins NGF, BDNF, and NT3/4 signal through their common receptor p75NTR. NGF binding to p75NTR activates a ...
    • p75(NTR)-mediated signaling, organism-specific biosystem (from Pathway Interaction Database)
      p75(NTR)-mediated signaling, organism-specific biosystem
      p75(NTR)-mediated signaling
    • p75NTR recruits signalling complexes, organism-specific biosystem (from REACTOME)
      p75NTR recruits signalling complexes, organism-specific biosystemNF-kB activation involves recruitment at the cell membrane of several proteins such as RIP2, MYD88, IRAK1, TRAF6, p62 and atypical PKC by the NGF:p75NTR complex.
    • p75NTR signals via NF-kB, organism-specific biosystem (from REACTOME)
      p75NTR signals via NF-kB, organism-specific biosystemThe NF-kB pathway is an important pro-survival signalling pathway activated by mature NGF, but not BDNF or NT-3, through p75NTR. It is unclear whether TRKA activity also affects NF-kB activation.
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    TIR domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    death receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    3'-UTR-mediated mRNA stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    MyD88-dependent toll-like receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    cell surface receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to mechanical stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    defense response to Gram-positive bacterium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process TAS
    Traceable Author Statement
    more info
     
    positive regulation of I-kappaB kinase/NF-kappaB signaling IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    positive regulation of interleukin-17 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of interleukin-23 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of interleukin-6 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of type I interferon production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of type I interferon production TAS
    Traceable Author Statement
    more info
     
    regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to interleukin-1 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    toll-like receptor 9 signaling pathway TAS
    Traceable Author Statement
    more info
     
    toll-like receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    endosome membrane TAS
    Traceable Author Statement
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    myeloid differentiation primary response protein MyD88
    Names
    myeloid differentiation primary response gene (88)

    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.

    Genomic

    1. NG_016964.1 RefSeqGene

      Range
      5001..9545
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_157

    mRNA and Protein(s)

    1. NM_001172566.1NP_001166037.1  myeloid differentiation primary response protein MyD88 isoform 5

      See identical proteins and their annotated locations for NP_001166037.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two exons in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK298650, AP006309, BC013589
      Consensus CDS
      CCDS54568.1
      UniProtKB/Swiss-Prot
      Q99836
      Related
      ENSP00000417848, OTTHUMP00000209058, ENST00000495303, OTTHUMT00000342700
      Conserved Domains (1) summary
      cd08312
      Location:42119
      Death_MyD88; Death domain of Myeloid Differentation primary response protein MyD88
    2. NM_001172567.1NP_001166038.1  myeloid differentiation primary response protein MyD88 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL832906, AP006309
      Consensus CDS
      CCDS54565.1
      UniProtKB/TrEMBL
      A0A0A0MST0
      Related
      ENSP00000401399, ENST00000417037
      Conserved Domains (2) summary
      smart00255
      Location:173317
      TIR; Toll - interleukin 1 - resistance
      cd08312
      Location:42119
      Death_MyD88; Death domain of Myeloid Differentation primary response protein MyD88
    3. NM_001172568.1NP_001166039.1  myeloid differentiation primary response protein MyD88 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 3, which is shorter than isoform 1.
      Source sequence(s)
      AK296570, AP006309, BC013589
      Consensus CDS
      CCDS54567.1
      UniProtKB/Swiss-Prot
      Q99836
      UniProtKB/TrEMBL
      A0A0A0MSI9
      Related
      ENSP00000389979, OTTHUMP00000209060, ENST00000424893, OTTHUMT00000342703
      Conserved Domains (2) summary
      smart00255
      Location:128264
      TIR; Toll - interleukin 1 - resistance
      cd08312
      Location:42119
      Death_MyD88; Death domain of Myeloid Differentation primary response protein MyD88
    4. NM_001172569.1NP_001166040.1  myeloid differentiation primary response protein MyD88 isoform 4

      See identical proteins and their annotated locations for NP_001166040.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK298666, AP006309, BC013589
      Consensus CDS
      CCDS54566.1
      UniProtKB/Swiss-Prot
      Q99836
      Related
      ENSP00000390565, OTTHUMP00000209059, ENST00000443433, OTTHUMT00000342701
      Conserved Domains (1) summary
      cd08312
      Location:42119
      Death_MyD88; Death domain of Myeloid Differentation primary response protein MyD88
    5. NM_002468.4NP_002459.2  myeloid differentiation primary response protein MyD88 isoform 2

      See identical proteins and their annotated locations for NP_002459.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      BC013589, BP242808, BP339466, DC350705
      Consensus CDS
      CCDS2674.2
      UniProtKB/Swiss-Prot
      Q99836
      UniProtKB/TrEMBL
      A0A0A0MS70
      Related
      ENSP00000379625, OTTHUMP00000161718, ENST00000396334, OTTHUMT00000253743
      Conserved Domains (2) summary
      smart00255
      Location:173309
      TIR; Toll - interleukin 1 - resistance
      cd08312
      Location:42119
      Death_MyD88; Death domain of Myeloid Differentation primary response protein MyD88

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

      Range
      38138478..38143022
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005265172.1XP_005265229.1  

      Conserved Domains (2) summary
      cd08312
      Location:42119
      Death_MyD88; Death domain of Myeloid Differentation primary response protein MyD88
      cl22869
      Location:173220
      TIR_2; TIR domain
    2. XM_006713170.1XP_006713233.1  

      Conserved Domains (2) summary
      cd08312
      Location:42119
      Death_MyD88; Death domain of Myeloid Differentation primary response protein MyD88
      cl22869
      Location:128175
      TIR_2; TIR domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      38131949..38136493
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)