MLXIPL
Carbohydrate-responsive element-binding protein
Also known as: bHLHd14, CHREBP, MIO, MLXPL_HUMAN, MONDOB, WBSCR14, WS-bHLH
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NP71
- Gene
- MLXIPL
- Ensembl
- ENSG00000009950
- Chromosome
- 7
- Canonical length
- 852 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
OverviewNCBI 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 in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Canonical amino-acid sequenceUniProt
852 residues, UniProt reviewed canonical sequence.
>Q9NP71|MLXIPL
1 MAGALAGLAA GLQVPRVAPS PDSDSDTDSE DPSLRRSAGG LLRSQVIHSG HFMVSSPHSD
61 SLPRRRDQEG SVGPSDFGPR SIDPTLTRLF ECLSLAYSGK LVSPKWKNFK GLKLLCRDKI
121 RLNNAIWRAW YIQYVKRRKS PVCGFVTPLQ GPEADAHRKP EAVVLEGNYW KRRIEVVMRE
181 YHKWRIYYKK RLRKPSREDD LLAPKQAEGR WPPPEQWCKQ LFSSVVPVLL GDPEEEPGGR
241 QLLDLNCFLS DISDTLFTMT QSGPSPLQLP PEDAYVGNAD MIQPDLTPLQ PSLDDFMDIS
301 DFFTNSRLPQ PPMPSNFPEP PSFSPVVDSL FSSGTLGPEV PPASSAMTHL SGHSRLQARN
361 SCPGPLDSSA FLSSDFLLPE DPKPRLPPPP VPPPLLHYPP PAKVPGLEPC PPPPFPPMAP
421 PTALLQEEPL FSPRFPFPTV PPAPGVSPLP APAAFPPTPQ SVPSPAPTPF PIELLPLGYS
481 EPAFGPCFSM PRGKPPAPSP RGQKASPPTL APATASPPTT AGSNNPCLTQ LLTAAKPEQA
541 LEPPLVSSTL LRSPGSPQET VPEFPCTFLP PTPAPTPPRP PPGPATLAPS RPLLVPKAER
601 LSPPAPSGSE RRLSGDLSSM PGPGTLSVRV SPPQPILSRG RPDSNKTENR RITHISAEQK
661 RRFNIKLGFD TLHGLVSTLS AQPSLKVSKA TTLQKTAEYI LMLQQERAGL QEEAQQLRDE
721 IEELNAAINL CQQQLPATGV PITHQRFDQM RDMFDDYVRT RTLHNWKFWV FSILIRPLFE
781 SFNGMVSTAS VHTLRQTSLA WLDQYCSLPA LRPTVLNSLR QLGTSTSILT DPGRIPEQAT
841 RAVTEGTLGK PLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MLXIPL can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.6
- Highest tissue expression
- 546 nTPM
Expression across tissuesHPA
Tissue
- liver: 546 nTPM
- adrenal gland: 76 nTPM
- adipose tissue: 65 nTPM
- skeletal muscle: 53 nTPM
- duodenum: 50 nTPM
- breast: 48 nTPM
Single-cell type
- adipocytes: 501 nCPM
- hepatocytes: 405 nCPM
- proximal tubule cells: 193 nCPM
- adrenal cortex cells: 180 nCPM
- enterocytes: 121 nCPM
- myonuclei: 120 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 40 nTPM
- cerebral cortex: 27 nTPM
- pons: 24 nTPM
- basal ganglia: 22 nTPM
- hippocampal formation: 19 nTPM
- medulla oblongata: 19 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.47
- gnomAD pLI
- 0.05
- gnomAD missense Z
- 1.23
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- anatomical structure morphogenesis
- energy homeostasis
- fatty acid homeostasis
- glucose homeostasis
- glucose mediated signaling pathway
- lipid biosynthetic process
- negative regulation of DNA-templated transcription
- negative regulation of oxidative phosphorylation
- negative regulation of signal transduction by p53 class mediator
- positive regulation of cell population proliferation
- positive regulation of DNA-templated transcription
- positive regulation of fatty acid biosynthetic process
- positive regulation of glycolytic process
- positive regulation of insulin secretion involved in cellular response to glucose stimulus
- positive regulation of lipid biosynthetic process
- positive regulation of transcription by RNA polymerase II
- positive regulation of transcription from RNA polymerase II promoter by glucose
- regulation of DNA-templated transcription
- regulation of transcription by RNA polymerase II
- triglyceride homeostasis
Molecular functions
- DNA binding
- DNA-binding transcription activator activity
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription factor binding
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- protein heterodimerization activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II-specific DNA-binding transcription factor binding
- carbohydrate response element binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MLXIPL as an antibody target. Whether an autoantibody or antibody against MLXIPL could matter depends on whether native MLXIPL is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MLXIPL is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MLXIPL as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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