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

Gene ID: 51562, updated on 3-Apr-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 histone H3 acetylation; positive regulation of JNK cascade; and positive regulation of gene expression. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in thyroid (RPKM 34.1), lung (RPKM 32.4) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
14q13.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (36298564..36320637, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (30487901..30509973, complement)
105.20220307 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
  • 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. 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
  2. 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
  3. 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
  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 (51) 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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_2023_10

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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