Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51085
Gene name Gene Name - the full gene name approved by the HGNC.
MLX interacting protein like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MLXIPL
Synonyms (NCBI Gene) Gene synonyms aliases
CHREBP, MIO, MLX, MONDOB, WBSCR14, WS-bHLH, bHLHd14
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q11.23
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 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 IEA
GO:0000785 Component Chromatin ISA
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
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605678 12744 ENSG00000009950
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Bicuspid aortic valve Bicuspid aortic valve rs1569484234, rs1569484208
Cutis laxa Cutis Laxa rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811
View all (31 more)
Diabetes mellitus Diabetes Mellitus rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Unknown
Disease term Disease name Evidence References Source
Otitis media Recurrent otitis media ClinVar
Renal hypoplasia Congenital hypoplasia of kidney ClinVar
Williams syndrome Williams Syndrome ClinVar
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
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