Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4601
Gene name Gene Name - the full gene name approved by the HGNC.
MAX interactor 1, dimerization protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MXI1
Synonyms (NCBI Gene) Gene synonyms aliases
MAD2, MXD2, MXI, bHLHc11
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q25.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 regu
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137852603 A>C Pathogenic Missense variant, coding sequence variant
rs137852604 C>T Pathogenic Missense variant, coding sequence variant
rs387906417 T>C Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017857 hsa-miR-335-5p Microarray 18185580
MIRT001748 hsa-miR-375 Other 15806104
MIRT020453 hsa-miR-106b-5p Microarray 17242205
MIRT024480 hsa-miR-215-5p Microarray 19074876
MIRT026461 hsa-miR-192-5p Microarray 19074876
Transcription factors
Transcription factor Regulation Reference
MYCN Repression 24403858
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 11875718
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 8425219
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600020 7534 ENSG00000119950
Protein
UniProt ID P50539
Protein name Max-interacting protein 1 (Max interactor 1) (Class C basic helix-loop-helix protein 11) (bHLHc11)
Protein function Transcriptional repressor. MXI1 binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. MXI1 thus antagonizes MYC transcriptional activity by competing for MAX.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 68 120 Helix-loop-helix DNA-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: High levels found in the brain, heart and lung while lower levels are seen in the liver, kidney and skeletal muscle.
Sequence
MERVKMINVQRLLEAAEFLERRERECEHGYASSFPSMPSPRLQHSKPPRRLSRAQKHSSG
SSNTSTANRSTHNELEKNRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKKLE
EAERKSQHQLENLEREQRFLKWRLEQLQGPQEMERIRMDSIGSTISSDRSDSEREEIEVD
VESTEFSHGEVDNISTTSISDIDDHSSLPSIGSDEGYSSASVKLSFTS
Sequence length 228
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Kidney disease Kidney Diseases rs74315342, rs749740335, rs757649673, rs112417755, rs35138315 23316056
Neurofibrosarcoma Neurofibrosarcoma rs137852604
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 7773287
Unknown
Disease term Disease name Evidence References Source
Multiple myeloma Multiple myeloma MM cells lacking PSMC6 also developed resistance against Carfilzomib (CAR) GWAS, CBGDA
Bipolar Disorder Bipolar Disorder GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 18493233
Brain Neoplasms Associate 24376632
Carcinogenesis Associate 11875718, 19018165
Carcinoma Non Small Cell Lung Associate 35149174
Carcinoma Renal Cell Stimulate 19018165
Desmoplastic Small Round Cell Tumor Associate 32873880
Glioblastoma Associate 11875718, 24376632, 26943771
Glioma Inhibit 24376632
Glioma Associate 37934565
Hypoxia Associate 18087215