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    MAPKBP1 mitogen-activated protein kinase binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 23005, updated on 17-Jun-2024

    Summary

    Official Symbol
    MAPKBP1provided by HGNC
    Official Full Name
    mitogen-activated protein kinase binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:29536
    See related
    Ensembl:ENSG00000137802 MIM:616786; AllianceGenome:HGNC:29536
    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
    JNKBP1; NPHP20; JNKBP-1
    Summary
    This gene encodes a scaffold protein that regulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding oligomerization domain-containing protein 2) signaling pathways. The encoded protein interacts with another related JNK pathway scaffold protein, WDR62, via a conserved dimerization domain, and enhances JNK signaling. This protein may play a role in bacterial immunity by binding to the NOD2 receptor and negatively regulating downstream antibacterial and pro-inflammatory signaling. Mutations in this gene that impair cellular localization of the encoded protein cause a form of nephronophthisis, an autosomal-recessive kidney disorder, in human patients. [provided by RefSeq, May 2017]
    Expression
    Broad expression in testis (RPKM 16.2), skin (RPKM 11.0) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See MAPKBP1 in Genome Data Viewer
    Location:
    15q15.1
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (41774484..41827855)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (39580367..39633768)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (42066682..42120053)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370791 Neighboring gene uncharacterized LOC124903614 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6367 Neighboring gene MAX dimerization protein MGA Neighboring gene microRNA 626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9285 Neighboring gene JMJD7-PLA2G4B readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:42117960-42118842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9286 Neighboring gene Sharpr-MPRA regulatory region 5929 Neighboring gene jumonji domain containing 7 Neighboring gene phospholipase A2 group IVB

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Nephronophthisis 20 Compare labs

    EBI GWAS Catalog

    Description
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC138851, MGC138852

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitotic spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    mitogen-activated protein kinase-binding protein 1
    Names
    JNK-binding protein 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.

    Genomic

    1. NG_054745.1 RefSeqGene

      Range
      5051..58422
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001128608.2NP_001122080.1  mitogen-activated protein kinase-binding protein 1 isoform b

      See identical proteins and their annotated locations for NP_001122080.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is longer than isoform a.
      Source sequence(s)
      AB011168, AC020659, AL833267, BC036660, BC113983, BC114493
      Consensus CDS
      CCDS45239.1
      UniProtKB/Swiss-Prot
      A6NM93, A8K8P9, O60336, Q14CB5, Q14CD8, Q49AJ8, Q5W9G9
      UniProtKB/TrEMBL
      B4DYK7
      Related
      ENSP00000393099.2, ENST00000456763.6
      Conserved Domains (3) summary
      COG2319
      Location:228725
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:484519
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:83427
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    2. NM_001265611.2NP_001252540.1  mitogen-activated protein kinase-binding protein 1 isoform c

      See identical proteins and their annotated locations for NP_001252540.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site and lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AC020659, AL833267, BC036660, BC113983
      Consensus CDS
      CCDS58359.1
      UniProtKB/Swiss-Prot
      O60336
      Related
      ENSP00000426154.1, ENST00000514566.5
      Conserved Domains (3) summary
      COG2319
      Location:228719
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:478513
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:83421
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    3. NM_014994.3NP_055809.2  mitogen-activated protein kinase-binding protein 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AB011168, AC020659, AL833267, BC036660, BC113983, BC114493
      Consensus CDS
      CCDS32201.1
      UniProtKB/TrEMBL
      B4DYK7
      Related
      ENSP00000397570.2, ENST00000457542.7
      Conserved Domains (3) summary
      COG2319
      Location:228719
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:478513
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:83421
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RNA

    1. NR_049761.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC020659, AL833267, BC036660
    2. NR_049762.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC020659, AK302482, AL833267, BC036660

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      41774484..41827855
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      39580367..39633768
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)