MXI1 MAX interactor 1, dimerization protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: MXI1provided by HGNC
Official Full Name: MAX interactor 1, dimerization proteinprovided by HGNC
Primary source: HGNC:HGNC:7534
See related: Ensembl:ENSG00000119950 MIM:600020; AllianceGenome:HGNC:7534
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: MXI; MAD2; MXD2; bHLHc11
Summary: Expression of the c-myc gene, which produces an oncogenic transcription factor, is tightly regulated in normal cells but is frequently deregulated in human cancers. The protein encoded by this gene is a transcriptional repressor thought to negatively regulate MYC function, and is therefore a potential tumor suppressor. This protein inhibits the transcriptional activity of MYC by competing for MAX, another basic helix-loop-helix protein that binds to MYC and is required for its function. Defects in this gene are frequently found in patients with prostate tumors. Three alternatively spliced transcripts encoding different isoforms have been described. Additional alternatively spliced transcripts may exist but the products of these transcripts have not been verified experimentally. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in ovary (RPKM 23.6), brain (RPKM 22.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q25.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (110207605..110287365)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (111091474..111171229)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (111967363..112047123)

Chromosome 10 - NC_000010.11 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mxi1 participates in the progression of lung cancer via the microRNA-300/KLF9/GADD34 Axis.
Title: Mxi1 participates in the progression of lung cancer via the microRNA-300/KLF9/GADD34 Axis.
UBE2O targets Mxi1 for ubiquitination and degradation to promote lung cancer progression and radioresistance.
Title: UBE2O targets Mxi1 for ubiquitination and degradation to promote lung cancer progression and radioresistance.
HIF-1alpha-induced FOXO3a promotes apoptosis of hypoxic endothelial cells by directly inducing Mxi1- 0, which leads to the activation of caspase-8 apoptotic pathway.
Title: FOXO3a-dependent up-regulation of Mxi1-0 promotes hypoxia-induced apoptosis in endothelial cells.
a phosphorylation mutant form of Mxi1 (Mxi1-S160A), which cannot be degraded by S6K1 and beta-Trcp, is much more stable and efficient in suppressing the transcriptional activity of Myc and radioresistance in lung cancer cells.
Title: S6K1 phosphorylation-dependent degradation of Mxi1 by β-Trcp ubiquitin ligase promotes Myc activation and radioresistance in lung cancer.
Reactive oxygen species mediates hypoxia-induced VEGF by upregulation of Mxi1-0.
Title: A positive feedback loop between ROS and Mxi1-0 promotes hypoxia-induced VEGF expression in human hepatocellular carcinoma cells.
results suggest that Mxi1-0 regulates the growth of HUVECs via the IL-8 and ERK1/2 pathways, which apparently reciprocally activate each other
Title: Mxi1-0 regulates the growth of human umbilical vein endothelial cells through extracellular signal-regulated kinase 1/2 (ERK1/2) and interleukin-8 (IL-8)-dependent pathways.
MYC-HEG and MXI1-LEG levels are associated with poor prognosis in patients with breast cancer, suggesting that they may be useful molecular markers in breast cancer prognosis prediction.
Title: MYC and MXI1 protein expression: potential prognostic significance in women with breast cancer in China.
MicroRNA-155 promotes glioma cell proliferation via the regulation of MXI1.
Title: MicroRNA-155 promotes glioma cell proliferation via the regulation of MXI1.
MXI1-0 appears to be a downstream target of MYCN-dependent signaling pathways and may contribute to N-Myc-dependent cell growth and proliferation.
Title: N-Myc differentially regulates expression of MXI1 isoforms in neuroblastoma.
These findings reveal, for the first time, the novel functions of cooperation of miR243p and miR27a3p from two clusters in promoting cell proliferation through MXI1.
Title: miR-24-3p and miR-27a-3p promote cell proliferation in glioma cells via cooperative regulation of MXI1.

Submit: New GeneRIF Correction See all GeneRIFs (24)

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

Associated conditions

Description	Tests
Malignant tumor of prostate MedGen: C0376358 OMIM: 176807 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. 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

RH123073 (e-PCR)
- UniSTS:135466

RH17603 (e-PCR)
- UniSTS:25137

D10S173 (e-PCR)
- UniSTS:146999

G15973 (e-PCR)
- UniSTS:10566

G62013 (e-PCR)
- UniSTS:139090

SHGC-142331 (e-PCR)
- UniSTS:171394

MARC_9667-9668:996688506:1 (e-PCR)
- UniSTS:269965

RH46377 (e-PCR)
- UniSTS:22168

WI-9336 (e-PCR)
- UniSTS:59335

SHGC-58233 (e-PCR)
- UniSTS:29400

D10S479E (e-PCR)
- UniSTS:473060

GDB:303956 (e-PCR)
- UniSTS:156402

GDB:303982 (e-PCR)
- UniSTS:156403

RH120044 (e-PCR)
- UniSTS:133368

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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
contributes_to DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
contributes_to RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay 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 RNA polymerase II transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: max-interacting protein 1

Names: MAX dimerization protein 2; Max-related transcription factor; class C basic helix-loop-helix protein 11

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.

Genomic

NG_012103.1 RefSeqGene

Range

5001..84761

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001008541.1 → NP_001008541.1 max-interacting protein 1 isoform c

See identical proteins and their annotated locations for NP_001008541.1

Status: REVIEWED

Description

Transcript Variant: This variant (3), also referred to as WR, differs in the 5' UTR and lacks an alternate in-frame exon, compared to variant 1. The resulting protein (isoform c) is shorter, compared to isoform a. This variant is supported by mRNAs and ESTs but the existence of the protein product has not been verified experimentally.

Source sequence(s)

AA854855, AW291670, BC012907, BC016678, BC035128, BM668806

Consensus CDS

CCDS31284.1

UniProtKB/TrEMBL

A0A0S2Z3X5, B1ANN8

Related

ENSP00000354606.4, ENST00000361248.8

Conserved Domains (1) summary

cl00081
Location:22 → 101

bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily
NM_005962.5 → NP_005953.4 max-interacting protein 1 isoform a

See identical proteins and their annotated locations for NP_005953.4

Status: REVIEWED

Description

Transcript Variant: This variant (1), also referred to as SRbeta, encodes the predominant isoform (a).

Source sequence(s)

AA640393, AA854855, AL360182, AL538051, AW291670, BC016678, BM668806, BX417051, CB960506, CF594363

Consensus CDS

CCDS7564.2

UniProtKB/Swiss-Prot

B1ANN7, D3DR25, D3DRA9, P50539, Q15887, Q6FHW2, Q96E53

UniProtKB/TrEMBL

B1ANN8

Related

ENSP00000239007.7, ENST00000239007.11

Conserved Domains (1) summary

smart00353
Location:73 → 125

HLH; helix loop helix domain
NM_130439.3 → NP_569157.2 max-interacting protein 1 isoform b

See identical proteins and their annotated locations for NP_569157.2

Status: REVIEWED

Description

Transcript Variant: This variant (2), also referred to as SRalpha, differs in the 5' UTR and coding region, compared to variant 1. The resulting protein (isoform b) is longer and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

AA854855, AW291670, BC016678, BC035128, BM668806, BQ924073

Consensus CDS

CCDS7563.1

UniProtKB/Swiss-Prot

P50539

Related

ENSP00000331152.5, ENST00000332674.9

Conserved Domains (1) summary

smart00353
Location:140 → 192

HLH; helix loop helix domain