MLXIP MLX interacting protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: MLXIPprovided by HGNC
Official Full Name: MLX interacting proteinprovided by HGNC
Primary source: HGNC:HGNC:17055
See related: Ensembl:ENSG00000175727 MIM:608090; AllianceGenome:HGNC:17055
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: MIR; MONDOA; bHLHe36
Summary: This gene encodes a protein that functions as part of a heterodimer to activate transcription. The encoded protein forms a heterodimer with Max-like protein X (MLX) and is involved in the regulation of genes in response to cellular glucose levels. [provided by RefSeq, Mar 2014]
Expression: Ubiquitous expression in colon (RPKM 27.3), ovary (RPKM 19.2) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 12q24.31

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (122078756..122147344)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (122074570..122143121)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (122516662..122631891)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MondoA drives malignancy in B-ALL through enhanced adaptation to metabolic stress.
Title: MondoA drives malignancy in B-ALL through enhanced adaptation to metabolic stress.
MondoA-Thioredoxin-Interacting Protein Axis Maintains Regulatory T-Cell Identity and Function in Colorectal Cancer Microenvironment.
Title: MondoA-Thioredoxin-Interacting Protein Axis Maintains Regulatory T-Cell Identity and Function in Colorectal Cancer Microenvironment.
TXNIP induced by MondoA, rather than ChREBP, suppresses cervical cancer cell proliferation, migration and invasion.
Title: TXNIP induced by MondoA, rather than ChREBP, suppresses cervical cancer cell proliferation, migration and invasion.
MondoA drives muscle lipid accumulation and insulin resistance.
Title: MondoA drives muscle lipid accumulation and insulin resistance.
In response to acidosis, MondoA shows preferential binding to just two targets, TXNIP and its paralog ARRDC4. Because these transcriptional targets are suppressors of glucose uptake, the authors propose that MondoA is critical for restoring metabolic homeostasis in response to high energy charge.
Title: Cellular acidosis triggers human MondoA transcriptional activity by driving mitochondrial ATP production.
Data (including data from studies in knockout mice) suggest that MONDOA shuttles to nucleus of pancreatic beta-cells where it is required for induction of glucose-responsive genes arrestin domain-containing protein 4 (ARRDC4) and thioredoxin interacting protein (TXNIP).
Title: MondoA Is an Essential Glucose-Responsive Transcription Factor in Human Pancreatic β-Cells.
MondoA-directed programs have a key role in the coordinated control of myocyte lipid balance and insulin signaling
Title: MondoA coordinately regulates skeletal myocyte lipid homeostasis and insulin signaling.
Evaluation of the conservation of ChREBP and MondoA sequences demonstrate that MondoA is better conserved and potentially mediates more ancient function in glucose metabolism.
Title: Contrasting Patterns in the Evolution of Vertebrate MLX Interacting Protein (MLXIP) and MLX Interacting Protein-Like (MLXIPL) Genes.
These results suggest that C771G polymorphism of MLXIPL gene is associated with coronary stenosis and its severity.
Title: C771G (His241Gln) polymorphism of MLXIPL gene, TG levels and coronary artery disease: a case control study.
Knockdown of MondoA, or its dimerization partner Mlx, blocks Myc-induced reprogramming of multiple metabolic pathways, resulting in apoptosis
Title: Deregulated Myc requires MondoA/Mlx for metabolic reprogramming and tumorigenesis.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

Go to the top of the page Help

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
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

WI-20969 (e-PCR)
- UniSTS:31347

STS-W45376 (e-PCR)
- UniSTS:55931

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

Go to the top of the page Help

Preferred Names: MLX-interacting protein

Names: Mlx interactor; class E basic helix-loop-helix protein 36; transcriptional activator MondoA

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

NG_033995.1 RefSeqGene

Range

5029..73617

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014938.6 → NP_055753.3 MLX-interacting protein

See identical proteins and their annotated locations for NP_055753.3

Status: REVIEWED

Source sequence(s)

AF245480, AW996647, BC151841, BE207198, BM007462, BM558759, BM857835, BQ218664, BQ445885, CA426212

Consensus CDS

CCDS73540.1

UniProtKB/Swiss-Prot

A7MBN0, O94945, Q7LC47, Q8IXP1, Q8TAH9, Q8WVQ0, Q8WYA5, Q9HAP2

Related

ENSP00000312834.6, ENST00000319080.12

Conserved Domains (1) summary

cd00083
Location:718 → 773

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

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

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

122078756..122147344

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006719290.5 → XP_006719353.1 MLX-interacting protein isoform X1

Conserved Domains (1) summary

cd00083
Location:718 → 774

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
XM_006719292.5 → XP_006719355.1 MLX-interacting protein isoform X3

Conserved Domains (1) summary

cd00083
Location:718 → 774

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
XM_006719291.5 → XP_006719354.1 MLX-interacting protein isoform X2

Conserved Domains (1) summary

cd00083
Location:718 → 773

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
XM_047428537.1 → XP_047284493.1 MLX-interacting protein isoform X4
XM_047428538.1 → XP_047284494.1 MLX-interacting protein isoform X6
XM_006719293.4 → XP_006719356.1 MLX-interacting protein isoform X5

Conserved Domains (1) summary

PHA03247
Location:339 → 568

PHA03247; large tegument protein UL36; Provisional