Human Gene MLXIPL (ENST00000313375.8_13) from GENCODE V47lift37
  Description: MLX interacting protein like, transcript variant 1 (from RefSeq NM_032951.3)
Gencode Transcript: ENST00000313375.8_13
Gencode Gene: ENSG00000009950.16_19
Transcript (Including UTRs)
   Position: hg19 chr7:73,007,532-73,038,852 Size: 31,321 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg19 chr7:73,008,195-73,038,822 Size: 30,628 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:73,007,532-73,038,852)mRNA (may differ from genome)Protein (852 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MLXPL_HUMAN
DESCRIPTION: RecName: Full=Carbohydrate-responsive element-binding protein; Short=ChREBP; AltName: Full=Class D basic helix-loop-helix protein 14; Short=bHLHd14; AltName: Full=MLX interactor; AltName: Full=MLX-interacting protein-like; AltName: Full=WS basic-helix-loop-helix leucine zipper protein; Short=WS-bHLH; AltName: Full=Williams-Beuren syndrome chromosomal region 14 protein;
FUNCTION: Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3' (By similarity).
SUBUNIT: Binds DNA as a heterodimer with TCFL4/MLX.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Expressed in liver, heart, kidney, cerebellum and intestinal tissues.
PTM: Phosphorylation at Ser-556 by AMPK inactivates the DNA- binding activity (By similarity).
DISEASE: Note=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.
SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MLXIPL
Diseases sorted by gene-association score: williams-beuren syndrome (20), multiple symmetrical lipomatosis (15), fatty liver disease (11), hepatocellular adenoma (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 244.92 RPKM in Liver
Total median expression: 763.52 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.5030-0.383 Picture PostScript Text
3' UTR -288.60663-0.435 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011598 - HLH_dom

Pfam Domains:
PF00010 - Helix-loop-helix DNA-binding domain

SCOP Domains:
47459 - HLH, helix-loop-helix DNA-binding domain

ModBase Predicted Comparative 3D Structure on Q9NP71
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  Ensembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0008134 transcription factor binding
GO:0035538 carbohydrate response element binding
GO:0046982 protein heterodimerization activity
GO:0046983 protein dimerization activity
GO:0042803 protein homodimerization activity

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0008284 positive regulation of cell proliferation
GO:0009653 anatomical structure morphogenesis
GO:0010255 glucose mediated signaling pathway
GO:0033137 negative regulation of peptidyl-serine phosphorylation
GO:0035556 intracellular signal transduction
GO:0042593 glucose homeostasis
GO:0045723 positive regulation of fatty acid biosynthetic process
GO:0045821 positive regulation of glycolytic process
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046889 positive regulation of lipid biosynthetic process
GO:0055089 fatty acid homeostasis
GO:0070328 triglyceride homeostasis
GO:0071157 negative regulation of cell cycle arrest
GO:0071322 cellular response to carbohydrate stimulus
GO:0090324 negative regulation of oxidative phosphorylation
GO:0097009 energy homeostasis

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AF056184 - Homo sapiens WS basic-helix-loop-helix leucine zipper protein mRNA, complete cds.
AF245470 - Homo sapiens Mlx interactor alpha (MIO) mRNA, complete cds, alternatively spliced.
AF245471 - Homo sapiens Mlx interactor beta (MIO) mRNA, complete cds, alternatively spliced.
AF245472 - Homo sapiens Mlx interactor gamma (MIO) mRNA, complete cds, alternatively spliced.
AF245473 - Homo sapiens Mlx interactor delta (MIO) mRNA, complete cds, alternatively spliced.
AF245474 - Homo sapiens Mlx interactor epsilon (MIO) mRNA, complete cds, alternatively spliced.
JC178373 - Sequence 4 from Patent WO2013112458.
BC012925 - Homo sapiens MLX interacting protein-like, mRNA (cDNA clone MGC:9556 IMAGE:3866131), complete cds.
AF156603 - Homo sapiens putative hepatic transcription factor (WBSCR14) mRNA, complete cds.
JD134428 - Sequence 115452 from Patent EP1572962.
JD373321 - Sequence 354345 from Patent EP1572962.
JD134427 - Sequence 115451 from Patent EP1572962.
JD554863 - Sequence 535887 from Patent EP1572962.
JD423683 - Sequence 404707 from Patent EP1572962.
JD153554 - Sequence 134578 from Patent EP1572962.
JD103309 - Sequence 84333 from Patent EP1572962.
JD273333 - Sequence 254357 from Patent EP1572962.
JD471590 - Sequence 452614 from Patent EP1572962.
JD363081 - Sequence 344105 from Patent EP1572962.
JD046098 - Sequence 27122 from Patent EP1572962.
JD363233 - Sequence 344257 from Patent EP1572962.
JD512219 - Sequence 493243 from Patent EP1572962.
JD235431 - Sequence 216455 from Patent EP1572962.
JD126136 - Sequence 107160 from Patent EP1572962.
JD099570 - Sequence 80594 from Patent EP1572962.
JD271436 - Sequence 252460 from Patent EP1572962.
JD209304 - Sequence 190328 from Patent EP1572962.
JD563763 - Sequence 544787 from Patent EP1572962.
AB527610 - Synthetic construct DNA, clone: pF1KB0430, Homo sapiens MLXIPL gene for MLX interacting protein-like, without stop codon, in Flexi system.
JD133879 - Sequence 114903 from Patent EP1572962.
JD103295 - Sequence 84319 from Patent EP1572962.
JD398209 - Sequence 379233 from Patent EP1572962.
JD450434 - Sequence 431458 from Patent EP1572962.
JD239741 - Sequence 220765 from Patent EP1572962.
JD098647 - Sequence 79671 from Patent EP1572962.
JD465038 - Sequence 446062 from Patent EP1572962.
AK055029 - Homo sapiens cDNA FLJ30467 fis, clone BRAWH1000002, highly similar to Homo sapiens putative hepatic transcription factor (WBSCR14) mRNA.
JD119070 - Sequence 100094 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_chrebpPathway - ChREBP regulation by carbohydrates and cAMP

Reactome (by CSHL, EBI, and GO)

Protein Q9NP71 (Reactome details) participates in the following event(s):

R-HSA-163666 Formation of ChREBP:MLX heterodimer
R-HSA-163672 Phosphorylation of ChREBP at Thr(666) by PKA
R-HSA-163691 Phosphorylation of ChREBP at Serine 568 by AMPK
R-HSA-163688 Dephosphorylation of pChREBP (Thr 666) by PP2A
R-HSA-164056 Dephosphorylation of pChREBP (Ser 568) by PP2A
R-HSA-164423 PhosphoChREBP (Thr 666) is exported to cytosol
R-HSA-163670 Nuclear transport of pChREBP (Thr 666) protein
R-HSA-163689 Dephosphorylation of pChREBP (Ser 196) by PP2A
R-HSA-163676 Phosphorylation of pChREBP (Thr 666) at Ser(196) by PKA
R-HSA-163765 ChREBP activates metabolic gene expression
R-HSA-163358 PKA-mediated phosphorylation of key metabolic factors
R-HSA-163680 AMPK inhibits chREBP transcriptional activation activity
R-HSA-163767 PP2A-mediated dephosphorylation of key metabolic factors
R-HSA-163685 Energy Metabolism
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: BHLHD14, C5HU02, C5HU03, C5HU04, ENST00000313375.1, ENST00000313375.2, ENST00000313375.3, ENST00000313375.4, ENST00000313375.5, ENST00000313375.6, ENST00000313375.7, MIO, MLXPL_HUMAN, NM_032951, Q96E48, Q9BY03, Q9BY04, Q9BY05, Q9BY06, Q9NP71, Q9Y2P3, uc317pka.1, uc317pka.2, WBSCR14
UCSC ID: ENST00000313375.8_13
RefSeq Accession: NM_032951.3
Protein: Q9NP71 (aka MLXPL_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.