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

Gene ID: 51562, updated on 1-Aug-2020

Summary

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
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
Expression
Broad expression in thyroid (RPKM 34.1), lung (RPKM 32.4) and 24 other tissues See more
Orthologs

Genomic context

See MBIP in Genome Data Viewer
Location:
14q13.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (36298558..36320676, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (36767764..36789882, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 21 Neighboring gene uncharacterized LOC107984003 Neighboring gene VISTA enhancer hs592 Neighboring gene developmental pluripotency associated 3 pseudogene 2

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

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
histone H3 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
inactivation of MAPK activity involved in osmosensory signaling pathway TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Ada2/Gcn5/Ada3 transcription activator complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001144891.1NP_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/Swiss-Prot
    Q9NS73
    Related
    ENSP00000324444.5, ENST00000318473.11
    Conserved Domains (1) summary
    PRK14669
    Location:56166
    uvrC; excinuclease ABC subunit C; Provisional
  2. NM_001308110.2NP_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/Swiss-Prot
    Q9NS73
    UniProtKB/TrEMBL
    B2RCV0
    Related
    ENSP00000352517.5, ENST00000359527.11
    Conserved Domains (1) summary
    PRK14669
    Location:56166
    uvrC; excinuclease ABC subunit C; Provisional
  3. NM_016586.3NP_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
    Q9NS73
    UniProtKB/TrEMBL
    B2RCV0
    Related
    ENSP00000399718.2, ENST00000416007.9
    Conserved Domains (1) summary
    PRK14669
    Location:56166
    uvrC; excinuclease ABC subunit C; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    36298558..36320676 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021367.2XP_016876856.1  MAP3K12-binding inhibitory protein 1 isoform X3

  2. XM_005267756.5XP_005267813.1  MAP3K12-binding inhibitory protein 1 isoform X2

    Conserved Domains (1) summary
    PRK14669
    Location:56166
    uvrC; excinuclease ABC subunit C; Provisional
  3. XM_005267754.4XP_005267811.1  MAP3K12-binding inhibitory protein 1 isoform X1

    Conserved Domains (1) summary
    PRK14669
    Location:56166
    uvrC; excinuclease ABC subunit C; Provisional

RNA

  1. XR_001750373.2 RNA Sequence

  2. XR_001750371.2 RNA Sequence

  3. XR_001750370.2 RNA Sequence

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