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MXI1 (MAX interactor 1, dimerization protein)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4601
Gene nameGene Name - the full gene name approved by the HGNC.
MAX interactor 1, dimerization protein
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MXI1
SynonymsGene synonyms aliases
MAD2, MXD2, MXI, bHLHc11
ChromosomeChromosome number
10
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q25.2
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MERVKMINVQRLLEAAEFLERRERECEHGYASSFPSMPSPRLQHSKPPRRLSRAQKHSSG
SSNTSTANRSTHNELEKNRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKKLE
EAERKSQHQLENLEREQRFLKWRLEQLQGPQEMERIRMDSIGSTISSDRSDSEREEIEVD
VESTEFSHGEVDNISTTSISDIDDHSSLPSIGSDEGYSSASVKLSFTS
Sequence length 228
Interactions View interactions
Associated diseases
Causal
Disease name Disease term 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 name Disease term dbSNP ID References
Cardiovascular diseases Cardiovascular Diseases 30595370
Prostatic neoplasms Prostatic Neoplasms

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