MXD1 MAX dimerization protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MXD1provided by HGNC
Official Full Name: MAX dimerization protein 1provided by HGNC
Primary source: HGNC:HGNC:6761
See related: Ensembl:ENSG00000059728 MIM:600021; AllianceGenome:HGNC:6761
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: MAD; MAD1; BHLHC58
Summary: This gene encodes a member of the MYC/MAX/MAD network of basic helix-loop-helix leucine zipper transcription factors. The MYC/MAX/MAD transcription factors mediate cellular proliferation, differentiation and apoptosis. The encoded protein antagonizes MYC-mediated transcriptional activation of target genes by competing for the binding partner MAX and recruiting repressor complexes containing histone deacetylases. Mutations in this gene may play a role in acute leukemia, and the encoded protein is a potential tumor suppressor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
Expression: Broad expression in bone marrow (RPKM 58.4), esophagus (RPKM 54.2) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p13.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (69915109..69942945)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (69926849..69954666)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (70142241..70170077)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

MXD1 is a Potential Prognostic Biomarker and Correlated With Specific Molecular Change and Tumor Microenvironment Feature in Esophageal Squamous Cell Carcinoma.
Title: MXD1 is a Potential Prognostic Biomarker and Correlated With Specific Molecular Change and Tumor Microenvironment Feature in Esophageal Squamous Cell Carcinoma.
Targeting miR-21 with NL101 blocks c-Myc/Mxd1 loop and inhibits the growth of B cell lymphoma.
Title: Targeting miR-21 with NL101 blocks c-Myc/Mxd1 loop and inhibits the growth of B cell lymphoma.
MXD1 regulates the H9N2 and H1N1 influenza A virus-induced chemokine expression and their replications in human macrophage.
Title: MXD1 regulates the H9N2 and H1N1 influenza A virus-induced chemokine expression and their replications in human macrophage.
Compared with noncancerous breast tissues, miRNA-382-5p expression was upregulated but MXD1 mRNA expression was downregulated in breast cancer tissues. The dysregulation of miRNA-382-5p-MXD1 axis may be involved in the development and aggressive progression of breast cancer. miRNA-382-5p may target MXD1, leading to cell invasion and proliferation in breast cancer cells in vitro.
Title: The MicroRNA-382-5p/MXD1 Axis Relates to Breast Cancer Progression and Promotes Cell Malignant Phenotypes.
these data show that MXD1 functions as a negative regulator of BCR-ABL1 expression and subsequently inhibits proliferation and sensitizes chronic myeloid leukemia cells to imatinib treatment
Title: MXD1 regulates the imatinib resistance of chronic myeloid leukemia cells by repressing BCR-ABL1 expression.
Results suggest a role for MAX dimerization protein 1 (MXD1) in the control of ribosome biogenesis.
Title: MXD1 localizes in the nucleolus, binds UBF and impairs rRNA synthesis.
Study revealed that HIF-1alpha-induced Mxd1 contributes to cisplatin-resistance in hypoxic osteosarcoma cells by directly repressing PTEN, which leads to the activation of PI3K/AKT antiapoptotic and survival pathway.
Title: Mxd1 mediates hypoxia-induced cisplatin resistance in osteosarcoma cells by repression of the PTEN tumor suppressor gene.
the miR-382-5p/MXD1 axis plays a critical role in myelopoiesis by affecting the lineage choice of CD34(+) hematopoietic stem/progenitor cells.
Title: miR-382-5p Controls Hematopoietic Stem Cell Differentiation Through the Downregulation of MXD1.
TCP10L stabilizes MAD1 protein level through direct interaction, and they cooperatively regulate cell cycle progression.
Title: TCP10L synergizes with MAD1 in transcriptional suppression and cell cycle arrest through mutual interaction.
down regulation of miR-202 increased the expression of its target Mxd1, followed by Mxd1 recruitment to the Sin3A repressor complex and through its dimerization with Max, and increased repression of Myc-Max target proteins.
Title: Down regulation of miR-202 modulates Mxd1 and Sin3A repressor complexes to induce apoptosis of pancreatic cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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
Novel genetic variants modify the effect of smoking on carotid plaque burden in Hispanics. 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

RH78840 (e-PCR)
- UniSTS:14850

MAD_8449 (e-PCR)
- UniSTS:467756

NoName (e-PCR)
- UniSTS:480881

NoName (e-PCR)
- UniSTS:490399

RH68991 (e-PCR)
- UniSTS:44450

D2S2554 (e-PCR)
- UniSTS:37080

GDB:303985 (e-PCR)
- UniSTS:156404

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
enables 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
enables RNA polymerase II cis-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 Mad-Max complex	IPI Inferred from Physical Interaction more info	PubMed
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: max dimerization protein 1

Names: MAX-binding protein; antagonizer of myc transcriptional activity; max dimerizer 1

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_001202513.2 → NP_001189442.1 max dimerization protein 1 isoform 2

See identical proteins and their annotated locations for NP_001189442.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC019206, BC098396, BC143832

UniProtKB/TrEMBL

B7ZLI7, C9JBE8

Conserved Domains (2) summary

cd00083
Location:60 → 110

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, ...

cl02774
Location:97 → 143

Topoisomer_IB_N; Topoisomer_IB_N: N-terminal DNA binding fragment found in eukaryotic DNA topoisomerase (topo) IB proteins similar to the monomeric yeast and human topo I and heterodimeric topo I from Leishmania donvanni. Topo I enzymes are divided into: topo type IA ...
NM_001202514.2 → NP_001189443.1 max dimerization protein 1 isoform 3

See identical proteins and their annotated locations for NP_001189443.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AC019206, BC098396, BC143831, DB445256

Consensus CDS

CCDS56123.1

UniProtKB/TrEMBL

C9JBE8

Related

ENSP00000443935.1, ENST00000540449.5

Conserved Domains (1) summary

smart00353
Location:60 → 100

HLH; helix loop helix domain
NM_002357.4 → NP_002348.1 max dimerization protein 1 isoform 1

See identical proteins and their annotated locations for NP_002348.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC019206, BC098396

Consensus CDS

CCDS1896.1

UniProtKB/Swiss-Prot

B2R6V8, B7ZLI6, D6W5G2, Q05195, Q6FI41

UniProtKB/TrEMBL

C9JBE8

Related

ENSP00000264444.2, ENST00000264444.7

Conserved Domains (1) summary

cd00083
Location:60 → 110

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, ...