MLXIPL (MLX interacting protein like)

2010-02-01  

Identity

HGNC
LOCATION
7q11.23
LOCUSID
ALIAS
CHREBP,MIO,MLX,MONDOB,WBSCR14,WS-bHLH,bHLHd14
FUSION GENES

Other Information

Locus ID:

NCBI: 51085
MIM: 605678
HGNC: 12744
Ensembl: ENSG00000009950

Variants:

dbSNP: 51085
ClinVar: 51085
TCGA: ENSG00000009950
COSMIC: MLXIPL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000009950ENST00000313375Q9NP71
ENSG00000009950ENST00000345114Q9NP71
ENSG00000009950ENST00000354613Q9NP71
ENSG00000009950ENST00000414749Q9NP71
ENSG00000009950ENST00000429400Q9NP71
ENSG00000009950ENST00000434326A0A0C4DG26
ENSG00000009950ENST00000453275C9JDF5
ENSG00000009950ENST00000456640H7C1V3

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450

Pathways

PathwaySourceExternal ID
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
MetabolismREACTOMER-HSA-1430728
Integration of energy metabolismREACTOMER-HSA-163685
PKA-mediated phosphorylation of key metabolic factorsREACTOMER-HSA-163358
AMPK inhibits chREBP transcriptional activation activityREACTOMER-HSA-163680
PP2A-mediated dephosphorylation of key metabolic factorsREACTOMER-HSA-163767
ChREBP activates metabolic gene expressionREACTOMER-HSA-163765
Insulin resistanceKEGGhsa04931

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA33744PRKAA1GenePathwayassociated22722338
PA33745PRKAA2GenePathwayassociated22722338
PA33746PRKAB1GenePathwayassociated22722338
PA33747PRKAB2GenePathwayassociated22722338
PA33751PRKAG1GenePathwayassociated22722338
PA33752PRKAG2GenePathwayassociated22722338
PA33753PRKAG3GenePathwayassociated22722338

References

Pubmed IDYearTitleCitations
181930432008Newly identified loci that influence lipid concentrations and risk of coronary artery disease.690
181930442008Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.575
224662882012A novel ChREBP isoform in adipose tissue regulates systemic glucose metabolism.204
181930462008Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.130
181930462008Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.130
225468602012The lipogenic transcription factor ChREBP dissociates hepatic steatosis from insulin resistance in mice and humans.126
234435562013De novo lipogenesis in human fat and liver is linked to ChREBP-β and metabolic health.91
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
235974892013Novel insights into ChREBP regulation and function.67
252881362015Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.58

Citation

Dessen P

MLXIPL (MLX interacting protein like)

Atlas Genet Cytogenet Oncol Haematol. 2010-02-01

Online version: http://atlasgeneticsoncology.org/gene/51326/mlxipl