Gene Gene information from NCBI Gene database.
Entrez ID 51085
Gene name MLX interacting protein like
Gene symbol MLXIPL
Synonyms (NCBI Gene)
CHREBPMIOMLXMONDOBWBSCR14WS-bHLHbHLHd14
Chromosome 7
Chromosome location 7q11.23
Summary This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs
miRNA miRNA information provided by mirtarbase database.
301
miRTarBase ID miRNA Experiments Reference
MIRT609730 hsa-miR-8485 HITS-CLIP 23824327
MIRT609729 hsa-miR-4643 HITS-CLIP 23824327
MIRT609728 hsa-miR-1322 HITS-CLIP 23824327
MIRT609727 hsa-miR-4763-5p HITS-CLIP 23824327
MIRT609726 hsa-miR-6894-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
65
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000432 Process Positive regulation of transcription from RNA polymerase II promoter by glucose IEA
GO:0000785 Component Chromatin IDA 21084751
GO:0000785 Component Chromatin ISA
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
605678 12744 ENSG00000009950
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NP71
Protein name Carbohydrate-responsive element-binding protein (ChREBP) (Class D basic helix-loop-helix protein 14) (bHLHd14) (MLX interactor) (MLX-interacting protein-like) (WS basic-helix-loop-helix leucine zipper protein) (WS-bHLH) (Williams-Beuren syndrome chromosom
Protein function Binds DNA as a heterodimer with MLX/TCFL4 and activates transcription. Binds to the canonical E box sequence 5'-CACGTG-3'. Plays a role in transcriptional activation of glycolytic target genes. Involved in glucose-responsive gene regulation (By
PDB 6MJL , 6YGJ , 8BTQ , 8BWE , 8BWH , 8C1Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 650 704 Helix-loop-helix DNA-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in liver, heart, kidney, cerebellum and intestinal tissues.
Sequence
MAGALAGLAAGLQVPRVAPSPDSDSDTDSEDPSLRRSAGGLLRSQVIHSGHFMVSSPHSD
SLPRRRDQEGSVGPSDFGPRSIDPTLTRLFECLSLAYSGKLVSPKWKNFKGLKLLCRDKI
RLNNAIWRAWYIQYVKRRKSPVCGFVTPLQGPEADAHRKPEAVVLEGNYWKRRIEVVMRE
YHKWRIYYKKRLRKPSREDDLLAPKQAEGRWPPPEQWCKQLFSSVVPVLLGDPEEEPGGR
QLLDLNCFLSDISDTLFTMTQSGPSPLQLPPEDAYVGNADMIQPDLTPLQPSLDDFMDIS
DFFTNSRLPQPPMPSNFPEPPSFSPVVDSLFSSGTLGPEVPPASSAMTHLSGHSRLQARN
SCPGPLDSSAFLSSDFLLPEDPKPRLPPPPVPPPLLHYPPPAKVPGLEPCPPPPFPPMAP
PTALLQEEPLFSPRFPFPTVPPAPGVSPLPAPAAFPPTPQSVPSPAPTPFPIELLPLGYS
EPAFGPCFSMPRGKPPAPSPRGQKASPPTLAPATASPPTTAGSNNPCLTQLLTAAKPEQA
LEPPLVSSTLLRSPGSPQETVPEFPCTFLPPTPAPTPPRPPPGPATLAPSRPLLVPKAER
LSPPAPSGSERRLSGDLSSMPGPGTLSVRVSPPQPILSRGRPDSNKTENRRITHISAEQK
RRFNIKLGFDTLHGLVSTLSAQPSLKVSKATTLQKTAEYILMLQ
QERAGLQEEAQQLRDE
IEELNAAINLCQQQLPATGVPITHQRFDQMRDMFDDYVRTRTLHNWKFWVFSILIRPLFE
SFNGMVSTASVHTLRQTSLAWLDQYCSLPALRPTVLNSLRQLGTSTSILTDPGRIPEQAT
RAVTEGTLGKPL
Sequence length 852
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Insulin resistance
Non-alcoholic fatty liver disease
  PKA-mediated phosphorylation of key metabolic factors
ChREBP activates metabolic gene expression
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
7
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Benign rs200967567 RCV005910637
MLXIPL-related disorder Uncertain significance rs782778206 RCV003406252
Myoepithelial tumor Uncertain significance rs2484092752 RCV002463897
Williams syndrome Benign; Likely benign rs200391124, rs190197045 RCV002489390
RCV002487929
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 37074818
Autism Spectrum Disorder Associate 31413120
Breast Neoplasms Associate 24366300
Carcinoma Hepatocellular Associate 28816938, 31407220, 33656238, 36809979
Colonic Neoplasms Associate 32144313
Colorectal Neoplasms Associate 32144313
Constriction Pathologic Associate 25179879
Coronary Artery Disease Associate 25179879
Coronary Disease Associate 23840567, 29848931, 37074818
Coronary Stenosis Associate 25179879