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Details on Person UniProt:Q9NP71 MLXIPL
| Class:Id | ReferenceGeneProduct:67390 |
|---|---|
| _chainChangeLog | chain:1-852 added on Sat February 7 2015 |
| _displayName | UniProt:Q9NP71 MLXIPL |
| _timestamp | 2026-02-20 21:41:30 |
| chain | chain:1-852 |
| checksum | D49E5C3D7C0A72EC |
| comment | FUNCTION 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. |
| description | recommendedName: 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 |
| geneName | MLXIPL BHLHD14 MIO WBSCR14 |
| identifier | Q9NP71 |
| isSequenceChanged | FALSE |
| keyword | 3D-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 |
| name | MLXIPL |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8990253] ENSEMBL:ENSG00000009950 MLXIPL [Homo sapiens] |
| secondaryIdentifier | MLXPL_HUMAN C5HU02 C5HU03 C5HU04 Q96E48 Q9BY03 Q9BY04 Q9BY05 Q9BY06 Q9Y2P3 |
| sequenceLength | 852 |
| 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)
