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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurofibrosarcoma Pathogenic rs137852604 RCV000010145
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer Likely pathogenic rs1564709391 RCV003154800
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prostate cancer Pathogenic rs2496871974, rs387906417, rs137852603 RCV000010142
RCV000010143
RCV000010144
★★★★☆
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★☆☆☆
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 15013707, 15457580, 18699967, 21376419, 8603382
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 10229497
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 9458379
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 27077767
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 17102621, 22706201
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 10229497
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 19174606
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus BEFREE 15013707
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 11351349
★☆☆☆☆
Found in Text Mining only