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

Gene ID: 4084, updated on 7-Oct-2018

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; Vega:OTTHUMG00000129646
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

Genomic context

See MXD1 in Genome Data Viewer
Location:
2p13.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (69915041..69942945)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (70142173..70170077)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene germ cell-less, spermatogenesis associated 1 Neighboring gene ribosomal protein L23a pseudogene 92 Neighboring gene small nuclear ribonucleoprotein U4/U6.U5 subunit 27 Neighboring gene PCBP1 antisense RNA 1 Neighboring gene aspartic peptidase retroviral like 1 Neighboring gene RNA, 7SL, cytoplasmic 470, pseudogene

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Novel genetic variants modify the effect of smoking on carotid plaque burden in Hispanics.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC104659

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
max dimerization protein 1
Names
MAX-binding protein
antagonizer of myc transcriptional activity
max dimerizer 1

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_001202513.1NP_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, DC347823
    UniProtKB/Swiss-Prot
    Q05195
    UniProtKB/TrEMBL
    B7ZLI7
    Conserved Domains (2) summary
    cd00083
    Location:60110
    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:97143
    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 ...
  2. NM_001202514.1NP_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, DC347823
    Consensus CDS
    CCDS56123.1
    UniProtKB/Swiss-Prot
    Q05195
    Related
    ENSP00000443935.1, ENST00000540449.5
    Conserved Domains (1) summary
    smart00353
    Location:60100
    HLH; helix loop helix domain
  3. NM_002357.3NP_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, DC347823
    Consensus CDS
    CCDS1896.1
    UniProtKB/Swiss-Prot
    Q05195
    Related
    ENSP00000264444.2, OTTHUMP00000160049, ENST00000264444.6, OTTHUMT00000251845
    Conserved Domains (1) summary
    cd00083
    Location:60110
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    69915041..69942945
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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