Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4084
Gene name Gene Name - the full gene name approved by the HGNC.
MAX dimerization protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MXD1
Synonyms (NCBI Gene) Gene synonyms aliases
BHLHC58, MAD, MAD1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT006866 hsa-miR-138-5p Luciferase reporter assay, Microarray 22921398
MIRT017596 hsa-miR-335-5p Microarray 18185580
MIRT053155 hsa-miR-19a-3p qRT-PCR, Western blot 24675462
MIRT053210 hsa-miR-125b-5p Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot 23099851
MIRT053155 hsa-miR-19a-3p Luciferase reporter assay, qRT-PCR, Western blot 24675462
Transcription factors
Transcription factor Regulation Reference
SMAD3 Unknown 21345218
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 10723141, 12837246
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 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 10723141
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600021 6761 ENSG00000059728
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Dermatitis Dermatitis, Allergic Contact rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 17374397
Unknown
Disease term Disease name Evidence References Source
Breast cancer Breast cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 18493233
Adenosine monophosphate deaminase deficiency Associate 19353846
Bipolar Disorder Associate 20633309
Brain Neoplasms Associate 37097595
Breast Neoplasms Associate 21411498, 35406744
Cerebral Hemorrhage Associate 30836997
Chromosomal Instability Associate 32337580
Colorectal Neoplasms Associate 11160700, 19912441
COVID 19 Associate 34312772
Desmoplastic Small Round Cell Tumor Associate 32873880