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Details on Person UniProt:Q9NP71 MLXIPL

Class:IdReferenceGeneProduct:67390
_chainChangeLogchain:1-852 added on Sat February 7 2015
_displayNameUniProt:Q9NP71 MLXIPL
_timestamp2026-02-20 21:41:30
chainchain:1-852
checksumD49E5C3D7C0A72EC
commentFUNCTION Glucose-responsive transcription activator that regulates fatty acid synthesis and glycolysis. Key determinant of systemic insulin sensitivity and glucose homeostasis. Important for the expression of fatty acid synthetic enzymes, including PC/Pcx, APOC4/Acl, ACACA/Acc1 and FASN/Fas (By similarity). Important for glucose-induced expression of L-type pyruvate kinase/PKLR (By similarity). Binds to the canonical and non-canonical E box DNA sequences 5'-CACGTG-3' and 5'-CACGCG-3' (By similarity). May also act as a transcriptional repressor (By similarity).SUBUNIT Binds DNA as a heterodimer with MLX/TCFL4.SUBCELLULAR LOCATION Localizes mainly in the cytoplasm of hepatocytes under low glucose and migrates into the nucleus under high glucose.ALTERNATIVE PRODUCTS Widely expressed with high levels in heart, brain, placenta, skeletal muscle and pancreas. Also expressed in fetal kidney, lung, liver and brain (PubMed:9860302). Expressed in fetal and adult liver (PubMed:10780788). Expressed in the cerebral cortex, including in the frontal, temporal, parietal and occipital lobes, and the cerebellum. Also detected in the intestine, including jejunum, ileum and colon (PubMed:11230181).PTM Phosphorylation at Ser-556 by AMPK inactivates the DNA-binding activity.DISEASE WBSCR14 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR14 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.MISCELLANEOUS May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.MISCELLANEOUS In non-diabetic individuals with normal glucose tolerance and widely ranging body mass index values, expression in subcutaneous white adipose tissue correlates strongly with insulin sensitivity measured during a euglycemic and hyperinsulinaemic clamp procedure. In non-diabetic obese individuals, adipose expression is directly associated with insulin-stimulated glucose uptake during a clamp, independent of body mass index.
descriptionrecommendedName: Carbohydrate-responsive element-binding protein shortName: ChREBP alternativeName: Class D basic helix-loop-helix protein 14 shortName: bHLHd14 alternativeName: MLX interactor alternativeName: MLX-interacting protein-like alternativeName: WS basic-helix-loop-helix leucine zipper protein shortName: WS-bHLH alternativeName: Williams-Beuren syndrome chromosomal region 14 protein
geneNameMLXIPL
BHLHD14
MIO
WBSCR14
identifierQ9NP71
isSequenceChangedFALSE
keyword3D-structure
Alternative promoter usage
Alternative splicing
Cytoplasm
DNA-binding
Nucleus
Phosphoprotein
Proteomics identification
Reference proteome
Repressor
Transcription
Transcription regulation
Williams-Beuren syndrome
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9862192] Weiser, Joel, 2024-02-26
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
[InstanceEdit:9983091] Weiser, Joel, 2026-02-20
nameMLXIPL
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8990253] ENSEMBL:ENSG00000009950 MLXIPL [Homo sapiens]
secondaryIdentifierMLXPL_HUMAN
C5HU02
C5HU03
C5HU04
Q96E48
Q9BY03
Q9BY04
Q9BY05
Q9BY06
Q9Y2P3
sequenceLength852
species[Species:48887] Homo sapiens
(isoformParent)[ReferenceIsoform:155813] UniProt:Q9NP71-2 MLXIPL [Homo sapiens]
[ReferenceIsoform:155814] UniProt:Q9NP71-3 MLXIPL [Homo sapiens]
[ReferenceIsoform:155815] UniProt:Q9NP71-4 MLXIPL [Homo sapiens]
[ReferenceIsoform:155816] UniProt:Q9NP71-5 MLXIPL [Homo sapiens]
[ReferenceIsoform:155817] UniProt:Q9NP71-6 MLXIPL [Homo sapiens]
[ReferenceIsoform:414633] UniProt:Q9NP71-1 MLXIPL [Homo sapiens]
(referenceEntity)[EntityWithAccessionedSequence:163665] p-S196-MLXIPL [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:163673] MLXIPL [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:163683] MLXIPL [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:163687] p-S556-MLXIPL [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:164349] p-T653-MLXIPL [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:164351] p-S196,T653-MLXIPL [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:164365] p-T653-MLXIPL [cytosol] [Homo sapiens]
(referenceSequence)[ModifiedResidue:163692] O-phospho-L-serine at 196
[ModifiedResidue:163693] O-phospho-L-serine at 556
[ModifiedResidue:164348] O-phospho-L-threonine at 653
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No pathways have been reviewed or authored by UniProt:Q9NP71 MLXIPL (67390)