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    MBIP MAP3K12 binding inhibitory protein 1 [ Homo sapiens (human) ]

    Gene ID: 51562, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MBIPprovided by HGNC
    Official Full Name
    MAP3K12 binding inhibitory protein 1provided by HGNC
    Primary source
    HGNC:HGNC:20427
    See related
    Ensembl:ENSG00000151332 MIM:609431; AllianceGenome:HGNC:20427
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables identical protein binding activity and protein kinase inhibitor activity. Involved in several processes, including positive regulation of JNK cascade; regulation of gene expression; and regulation of tubulin deacetylation. Located in cytosol; nucleolus; and nucleoplasm. Part of ATAC complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in thyroid (RPKM 34.1), lung (RPKM 32.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MBIP in Genome Data Viewer
    Location:
    14q13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (36298564..36320637, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (30487901..30509973, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (36767770..36789843, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:36741667-36742166 Neighboring gene uncharacterized LOC107984003 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:36748694-36749342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8283 Neighboring gene VISTA enhancer hs592 Neighboring gene DPPA3 pseudogene 2 Neighboring gene RNA, U7 small nuclear 93 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. MAPK upstream kinase (MUK)-binding inhibitory protein, a negative regulator of MUK/dual leucine zipper-bearing kinase/leucine zipper protein kinase. Fukuyama K, et al. J Biol Chem, 2000 Jul 14. PMID 10801814
    2. MBIP (MAP3K12 binding inhibitory protein) drives NSCLC metastasis by JNK-dependent activation of MMPs. Ochieng JK, et al. Oncogene, 2020 Oct. PMID 32963352, Free PMC Article
    3. Pathway-Affecting Single Nucleotide Polymorphisms (SNPs) in RPS6KA1 and MBIP Genes are Associated with Breast Cancer Risk. Shareefi G, et al. Asian Pac J Cancer Prev, 2020 Jul 1. PMID 32711446, Free PMC Article
    4. Discovery of common variants associated with low TSH levels and thyroid cancer risk. Gudmundsson J, et al. Nat Genet, 2012 Jan 22. PMID 22267200, Free PMC Article
    5. Molecular characterization of the human immunoglobulin V lambda I germline gene repertoire. Daley MD, et al. Mol Immunol, 1992 Sep. PMID 1495496

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pathway-Affecting Single Nucleotide Polymorphisms (SNPs) in RPS6KA1 and MBIP Genes are Associated with Breast Cancer Risk.
      Title: Pathway-Affecting Single Nucleotide Polymorphisms (SNPs) in RPS6KA1 and MBIP Genes are Associated with Breast Cancer Risk.
    2. MBIP (MAP3K12 binding inhibitory protein) drives NSCLC metastasis by JNK-dependent activation of MMPs.
      Title: MBIP (MAP3K12 binding inhibitory protein) drives NSCLC metastasis by JNK-dependent activation of MMPs.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
    EBI GWAS Catalog
    Discovery of common variants associated with low TSH levels and thyroid cancer risk.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of JNK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cell division IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cell division ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of embryonic development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of embryonic development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of tubulin deacetylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of tubulin deacetylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of ATAC complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of ATAC complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitotic spindle NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    MAP3K12-binding inhibitory protein 1
    Names
    MAPK upstream kinase-binding inhibitory protein
    MUK-binding inhibitory protein

    NCBI Reference Sequences (RefSeq)

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    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_001144891.2 → NP_001138363.1  MAP3K12-binding inhibitory protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AA761503, AL137226, BC016821
      Consensus CDS
      CCDS45096.1
      UniProtKB/TrEMBL
      B2RCV0
      Related
      ENSP00000324444.5, ENST00000318473.11

    2. NM_001308110.2 → NP_001295039.1  MAP3K12-binding inhibitory protein 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 3' coding region that results in a frameshift and novel 3' coding region compared to variant 1. It encodes isoform 3, which is shorter than and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AA761503, AK315290, BX248287
      Consensus CDS
      CCDS76672.1
      UniProtKB/TrEMBL
      S4R3N2
      Related
      ENSP00000352517.5, ENST00000359527.11

    3. NM_016586.3 → NP_057670.2  MAP3K12-binding inhibitory protein 1 isoform 1

      See identical proteins and their annotated locations for NP_057670.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA761503, AK315290, AL137226
      Consensus CDS
      CCDS9658.1
      UniProtKB/Swiss-Prot
      Q86TZ2, Q96AS5, Q9BS93, Q9NS73, Q9NZE1
      UniProtKB/TrEMBL
      B2RCV0
      Related
      ENSP00000399718.2, ENST00000416007.9

    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
      36298564..36320637 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021367.3 → XP_016876856.1  MAP3K12-binding inhibitory protein 1 isoform X5

      UniProtKB/TrEMBL
      S4R3N2

    2. XM_047431470.1 → XP_047287426.1  MAP3K12-binding inhibitory protein 1 isoform X4

    3. XM_047431469.1 → XP_047287425.1  MAP3K12-binding inhibitory protein 1 isoform X2

    4. XM_005267754.5 → XP_005267811.1  MAP3K12-binding inhibitory protein 1 isoform X1

      UniProtKB/TrEMBL
      B2RCV0

    5. XM_005267756.6 → XP_005267813.1  MAP3K12-binding inhibitory protein 1 isoform X3

      UniProtKB/TrEMBL
      S4R3N2
      Related
      ENSP00000474535.1, ENST00000604336.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      30487901..30509973 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376210.1 → XP_054232185.1  MAP3K12-binding inhibitory protein 1 isoform X5

    2. XM_054376209.1 → XP_054232184.1  MAP3K12-binding inhibitory protein 1 isoform X4

    3. XM_054376207.1 → XP_054232182.1  MAP3K12-binding inhibitory protein 1 isoform X2

    4. XM_054376206.1 → XP_054232181.1  MAP3K12-binding inhibitory protein 1 isoform X1

    5. XM_054376208.1 → XP_054232183.1  MAP3K12-binding inhibitory protein 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NS73.2 GenPept UniProtKB/Swiss-Prot:Q9NS73

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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