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

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; 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, Dec 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

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_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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 EBI GWAS CatalogPubMed
Discovery of common variants associated with low TSH levels and thyroid cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MBIP_9739 (e-PCR)
- UniSTS:468514

GDB:198189 (e-PCR)
- UniSTS:156040

GDB:198192 (e-PCR)
- UniSTS:156043

MBIP (e-PCR)
- UniSTS:503181

STS-W55968 (e-PCR)
- UniSTS:3567

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)

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
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
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

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

36298564..36320637 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

S4R3N2
XM_047431470.1 → XP_047287426.1 MAP3K12-binding inhibitory protein 1 isoform X4

UniProtKB/TrEMBL

S4R3N2
XM_047431469.1 → XP_047287425.1 MAP3K12-binding inhibitory protein 1 isoform X2

UniProtKB/TrEMBL

B2RCV0
XM_005267754.5 → XP_005267811.1 MAP3K12-binding inhibitory protein 1 isoform X1

UniProtKB/TrEMBL

B2RCV0
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

NC_060938.1 Alternate T2T-CHM13v2.0

Range

30487901..30509973 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

S4R3N2
XM_054376209.1 → XP_054232184.1 MAP3K12-binding inhibitory protein 1 isoform X4

UniProtKB/TrEMBL

S4R3N2
XM_054376207.1 → XP_054232182.1 MAP3K12-binding inhibitory protein 1 isoform X2

UniProtKB/TrEMBL

B2RCV0
XM_054376206.1 → XP_054232181.1 MAP3K12-binding inhibitory protein 1 isoform X1

UniProtKB/TrEMBL

B2RCV0
XM_054376208.1 → XP_054232183.1 MAP3K12-binding inhibitory protein 1 isoform X3

UniProtKB/TrEMBL

S4R3N2