Gene Gene information from NCBI Gene database.
Entrez ID 4601
Gene name MAX interactor 1, dimerization protein
Gene symbol MXI1
Synonyms (NCBI Gene)
MAD2MXD2MXIbHLHc11
Chromosome 10
Chromosome location 10q25.2
Summary 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.
3
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.
347
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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
MYCN Repression 24403858
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 11875718
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600020 7534 ENSG00000119950
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
16
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurofibrosarcoma Pathogenic rs137852604 RCV000010145
Ovarian cancer Likely pathogenic rs1564709391 RCV003154800
Prostate cancer Pathogenic rs2496871974, rs387906417, rs137852603 RCV000010142
RCV000010143
RCV000010144
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs11195067 RCV005936942
Gastric cancer Benign rs11195067 RCV005936944
Malignant tumor of esophagus Benign rs11195067 RCV005936943
MXI1-related disorder Benign; Likely benign rs11195067, rs201906236, rs61753063, rs758885112, rs141964073 RCV003914294
RCV003917124
RCV003919478
RCV003927375
RCV003961916
Associations from Text MiningDisease associations identified through Pubtator
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