Gene Gene information from NCBI Gene database.
Entrez ID 4084
Gene name MAX dimerization protein 1
Gene symbol MXD1
Synonyms (NCBI Gene)
BHLHC58MADMAD1
Chromosome 2
Chromosome location 2p13.3
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-
miRNA miRNA information provided by mirtarbase database.
926
miRTarBase ID miRNA Experiments Reference
MIRT006866 hsa-miR-138-5p Luciferase reporter assayMicroarray 22921398
MIRT017596 hsa-miR-335-5p Microarray 18185580
MIRT053155 hsa-miR-19a-3p qRT-PCRWestern blot 24675462
MIRT053210 hsa-miR-125b-5p ImmunofluorescenceImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot 23099851
MIRT053155 hsa-miR-19a-3p Luciferase reporter assayqRT-PCRWestern blot 24675462
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SMAD3 Unknown 21345218
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 10723141, 12837246
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin IDA 12837246
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600021 6761 ENSG00000059728
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q05195
Protein name Max dimerization protein 1 (Max dimerizer 1) (Protein MAD)
Protein function Component of a transcriptional repressor complex together with MAX (PubMed:8425218). In complex with MAX binds to the core DNA sequence 5'-CAC[GA]TG-3' (PubMed:8425218). Antagonizes MYC transcriptional activity by competing with MYC for MAX bind
PDB 1E91 , 1G1E , 1NLW , 1PD7 , 1S5Q
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 57 109 Helix-loop-helix DNA-binding domain Domain
Sequence
MAAAVRMNIQMLLEAADYLERREREAEHGYASMLPYNNKDRDALKRRNKSKKNNSSSRST
HNEMEKNRRAHLRLCLEKLKGLVPLGPESSRHTTLSLLTKAKLHIKKLE
DCDRKAVHQID
QLQREQRHLKRQLEKLGIERIRMDSIGSTVSSERSDSDREEIDVDVESTDYLTGDLDWSS
SSVSDSDERGSMQSLGSDEGYSSTSIKRIKLQDSHKACLGL
Sequence length 221
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DERMATITIS, ALLERGIC CONTACT CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 17577784
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 18493233
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 18493233
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 12112318
★☆☆☆☆
Found in Text Mining only
Adenosine monophosphate deaminase deficiency Myoadenylate deaminase deficiency Pubtator 19353846 Associate
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 21685915
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 28668386
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 21940415, 22706201
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 7585143
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 28097908
★☆☆☆☆
Found in Text Mining only