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Protein

Carbohydrate-responsive element-binding protein

Gene

MLXIPL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3' (By similarity).By similarity

GO - Molecular functioni

  • carbohydrate response element binding Source: BHF-UCL
  • DNA binding Source: BHF-UCL
  • protein heterodimerization activity Source: BHF-UCL
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: Ensembl
  • transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding Source: Ensembl
  • transcription factor activity, sequence-specific DNA binding Source: BHF-UCL
  • transcription factor binding Source: BHF-UCL

GO - Biological processi

  • anatomical structure morphogenesis Source: ProtInc
  • cellular response to carbohydrate stimulus Source: GO_Central
  • fatty acid homeostasis Source: UniProtKB
  • glucose homeostasis Source: BHF-UCL
  • glucose mediated signaling pathway Source: BHF-UCL
  • intracellular signal transduction Source: Reactome
  • negative regulation of cell cycle arrest Source: BHF-UCL
  • negative regulation of oxidative phosphorylation Source: BHF-UCL
  • negative regulation of peptidyl-serine phosphorylation Source: BHF-UCL
  • negative regulation of transcription, DNA-templated Source: BHF-UCL
  • positive regulation of cell proliferation Source: BHF-UCL
  • positive regulation of fatty acid biosynthetic process Source: BHF-UCL
  • positive regulation of glycolytic process Source: BHF-UCL
  • positive regulation of lipid biosynthetic process Source: BHF-UCL
  • positive regulation of transcription, DNA-templated Source: BHF-UCL
  • positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  • regulation of energy homeostasis Source: UniProtKB
  • regulation of transcription, DNA-templated Source: BHF-UCL
  • regulation of transcription from RNA polymerase II promoter Source: GO_Central
  • transcription, DNA-templated Source: UniProtKB-KW
  • triglyceride homeostasis Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000009950-MONOMER.
ReactomeiR-HSA-163358. PKA-mediated phosphorylation of key metabolic factors.
R-HSA-163680. AMPK inhibits chREBP transcriptional activation activity.
R-HSA-163765. ChREBP activates metabolic gene expression.
R-HSA-163767. PP2A-mediated dephosphorylation of key metabolic factors.
SIGNORiQ9NP71.

Names & Taxonomyi

Protein namesi
Recommended name:
Carbohydrate-responsive element-binding protein
Short name:
ChREBP
Alternative name(s):
Class D basic helix-loop-helix protein 14
Short name:
bHLHd14
MLX interactor
MLX-interacting protein-like
WS basic-helix-loop-helix leucine zipper protein
Short name:
WS-bHLH
Williams-Beuren syndrome chromosomal region 14 protein
Gene namesi
Name:MLXIPL
Synonyms:BHLHD14, MIO, WBSCR14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:12744. MLXIPL.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: BHF-UCL
  • cytosol Source: Reactome
  • nucleoplasm Source: Reactome
  • nucleus Source: BHF-UCL
  • transcription factor complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

DisGeNETi51085.
OpenTargetsiENSG00000009950.
PharmGKBiPA37353.

Polymorphism and mutation databases

BioMutaiMLXIPL.
DMDMi20140871.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001275041 – 852Carbohydrate-responsive element-binding proteinAdd BLAST852

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei20PhosphoserineCombined sources1
Modified residuei23PhosphoserineCombined sources1
Modified residuei25PhosphoserineCombined sources1
Modified residuei27PhosphothreonineCombined sources1
Modified residuei29PhosphoserineCombined sources1
Modified residuei196PhosphoserineCombined sources1
Modified residuei556Phosphoserine; by AMPKBy similarity1
Modified residuei602PhosphoserineCombined sources1
Modified residuei614PhosphoserineCombined sources1
Modified residuei631PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylation at Ser-556 by AMPK inactivates the DNA-binding activity.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9NP71.
PaxDbiQ9NP71.
PeptideAtlasiQ9NP71.
PRIDEiQ9NP71.

PTM databases

iPTMnetiQ9NP71.
PhosphoSitePlusiQ9NP71.

Expressioni

Tissue specificityi

Expressed in liver, heart, kidney, cerebellum and intestinal tissues.

Gene expression databases

BgeeiENSG00000009950.
CleanExiHS_MLXIPL.
ExpressionAtlasiQ9NP71. baseline and differential.
GenevisibleiQ9NP71. HS.

Organism-specific databases

HPAiHPA064640.

Interactioni

Subunit structurei

Binds DNA as a heterodimer with TCFL4/MLX.1 Publication

GO - Molecular functioni

  • protein heterodimerization activity Source: BHF-UCL
  • transcription factor binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi119275. 5 interactors.
IntActiQ9NP71. 4 interactors.
STRINGi9606.ENSP00000320886.

Structurei

3D structure databases

ProteinModelPortaliQ9NP71.
SMRiQ9NP71.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini649 – 703bHLHPROSITE-ProRule annotationAdd BLAST55

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni703 – 724Leucine-zipperAdd BLAST22

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi387 – 394Poly-Pro8
Compositional biasi409 – 417Poly-Pro9

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3582. Eukaryota.
ENOG410XTA5. LUCA.
GeneTreeiENSGT00530000063219.
HOVERGENiHBG073589.
InParanoidiQ9NP71.
KOiK09113.
OMAiQKFREYV.
OrthoDBiEOG091G02A1.
PhylomeDBiQ9NP71.
TreeFamiTF324749.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NP71-1) [UniParc]FASTAAdd to basket
Also known as: Alpha

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAGALAGLAA GLQVPRVAPS PDSDSDTDSE DPSLRRSAGG LLRSQVIHSG
60 70 80 90 100
HFMVSSPHSD SLPRRRDQEG SVGPSDFGPR SIDPTLTRLF ECLSLAYSGK
110 120 130 140 150
LVSPKWKNFK GLKLLCRDKI RLNNAIWRAW YIQYVKRRKS PVCGFVTPLQ
160 170 180 190 200
GPEADAHRKP EAVVLEGNYW KRRIEVVMRE YHKWRIYYKK RLRKPSREDD
210 220 230 240 250
LLAPKQAEGR WPPPEQWCKQ LFSSVVPVLL GDPEEEPGGR QLLDLNCFLS
260 270 280 290 300
DISDTLFTMT QSGPSPLQLP PEDAYVGNAD MIQPDLTPLQ PSLDDFMDIS
310 320 330 340 350
DFFTNSRLPQ PPMPSNFPEP PSFSPVVDSL FSSGTLGPEV PPASSAMTHL
360 370 380 390 400
SGHSRLQARN SCPGPLDSSA FLSSDFLLPE DPKPRLPPPP VPPPLLHYPP
410 420 430 440 450
PAKVPGLEPC PPPPFPPMAP PTALLQEEPL FSPRFPFPTV PPAPGVSPLP
460 470 480 490 500
APAAFPPTPQ SVPSPAPTPF PIELLPLGYS EPAFGPCFSM PRGKPPAPSP
510 520 530 540 550
RGQKASPPTL APATASPPTT AGSNNPCLTQ LLTAAKPEQA LEPPLVSSTL
560 570 580 590 600
LRSPGSPQET VPEFPCTFLP PTPAPTPPRP PPGPATLAPS RPLLVPKAER
610 620 630 640 650
LSPPAPSGSE RRLSGDLSSM PGPGTLSVRV SPPQPILSRG RPDSNKTENR
660 670 680 690 700
RITHISAEQK RRFNIKLGFD TLHGLVSTLS AQPSLKVSKA TTLQKTAEYI
710 720 730 740 750
LMLQQERAGL QEEAQQLRDE IEELNAAINL CQQQLPATGV PITHQRFDQM
760 770 780 790 800
RDMFDDYVRT RTLHNWKFWV FSILIRPLFE SFNGMVSTAS VHTLRQTSLA
810 820 830 840 850
WLDQYCSLPA LRPTVLNSLR QLGTSTSILT DPGRIPEQAT RAVTEGTLGK

PL
Length:852
Mass (Da):93,073
Last modified:October 1, 2000 - v1
Checksum:iD49E5C3D7C0A72EC
GO
Isoform 2 (identifier: Q9NP71-2) [UniParc]FASTAAdd to basket
Also known as: Beta

The sequence of this isoform differs from the canonical sequence as follows:
     687-705: Missing.

Show »
Length:833
Mass (Da):90,924
Checksum:i1A521C119FEFB2A4
GO
Isoform 3 (identifier: Q9NP71-3) [UniParc]FASTAAdd to basket
Also known as: Gamma

The sequence of this isoform differs from the canonical sequence as follows:
     647-648: Missing.

Show »
Length:850
Mass (Da):92,842
Checksum:i5E09A4F5461A569A
GO
Isoform 4 (identifier: Q9NP71-4) [UniParc]FASTAAdd to basket
Also known as: Delta

The sequence of this isoform differs from the canonical sequence as follows:
     647-648: Missing.
     687-705: Missing.

Show »
Length:831
Mass (Da):90,694
Checksum:i5D385F9A8B65646B
GO
Isoform 5 (identifier: Q9NP71-5) [UniParc]FASTAAdd to basket
Also known as: Epsilon

The sequence of this isoform differs from the canonical sequence as follows:
     558-575: QETVPEFPCTFLPPTPAP → AVNGGCQGTSAPCQALGL
     576-852: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:575
Mass (Da):62,026
Checksum:i246DF8F3B31D36B6
GO
Isoform 6 (identifier: Q9NP71-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     176-268: Missing.
     814-815: TV → ST
     816-852: Missing.

Show »
Length:722
Mass (Da):78,360
Checksum:iC78F185EFC7CE8F6
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti558Missing in AAH12925 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049556241Q → H.Corresponds to variant rs3812316dbSNPEnsembl.1
Natural variantiVAR_049557244D → E.Corresponds to variant rs34922362dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_002167176 – 268Missing in isoform 6. 1 PublicationAdd BLAST93
Alternative sequenceiVSP_002168558 – 575QETVP…PTPAP → AVNGGCQGTSAPCQALGL in isoform 5. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_002169576 – 852Missing in isoform 5. 1 PublicationAdd BLAST277
Alternative sequenceiVSP_002170647 – 648Missing in isoform 3 and isoform 4. 2 Publications2
Alternative sequenceiVSP_002171687 – 705Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST19
Alternative sequenceiVSP_002172814 – 815TV → ST in isoform 6. 1 Publication2
Alternative sequenceiVSP_002173816 – 852Missing in isoform 6. 1 PublicationAdd BLAST37

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF156673 Genomic DNA. Translation: AAF68176.1.
AF156603 mRNA. Translation: AAF68174.1.
AF245470 mRNA. Translation: AAK20935.1.
AF245471 mRNA. Translation: AAK20936.1.
AF245472 mRNA. Translation: AAK20937.1.
AF245473 mRNA. Translation: AAK20938.1.
AF245474 mRNA. Translation: AAK20939.1.
FJ515858 Genomic DNA. Translation: ACS13745.1.
FJ515858 Genomic DNA. Translation: ACS13746.1.
FJ515858 Genomic DNA. Translation: ACS13748.1.
AF056184 mRNA. Translation: AAD28084.1.
CH471200 Genomic DNA. Translation: EAW69660.1.
CH471200 Genomic DNA. Translation: EAW69661.1.
CH471200 Genomic DNA. Translation: EAW69662.1.
BC012925 mRNA. Translation: AAH12925.1.
CCDSiCCDS47605.1. [Q9NP71-2]
CCDS47606.1. [Q9NP71-3]
CCDS5553.1. [Q9NP71-1]
CCDS5554.1. [Q9NP71-4]
RefSeqiNP_116569.1. NM_032951.2. [Q9NP71-1]
NP_116570.1. NM_032952.2. [Q9NP71-2]
NP_116571.1. NM_032953.2. [Q9NP71-3]
NP_116572.1. NM_032954.2. [Q9NP71-4]
UniGeneiHs.647055.

Genome annotation databases

EnsembliENST00000313375; ENSP00000320886; ENSG00000009950. [Q9NP71-1]
ENST00000345114; ENSP00000343767; ENSG00000009950. [Q9NP71-5]
ENST00000354613; ENSP00000346629; ENSG00000009950. [Q9NP71-4]
ENST00000414749; ENSP00000412330; ENSG00000009950. [Q9NP71-3]
ENST00000429400; ENSP00000406296; ENSG00000009950. [Q9NP71-2]
GeneIDi51085.
KEGGihsa:51085.
UCSCiuc003tyk.1. human. [Q9NP71-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF156673 Genomic DNA. Translation: AAF68176.1.
AF156603 mRNA. Translation: AAF68174.1.
AF245470 mRNA. Translation: AAK20935.1.
AF245471 mRNA. Translation: AAK20936.1.
AF245472 mRNA. Translation: AAK20937.1.
AF245473 mRNA. Translation: AAK20938.1.
AF245474 mRNA. Translation: AAK20939.1.
FJ515858 Genomic DNA. Translation: ACS13745.1.
FJ515858 Genomic DNA. Translation: ACS13746.1.
FJ515858 Genomic DNA. Translation: ACS13748.1.
AF056184 mRNA. Translation: AAD28084.1.
CH471200 Genomic DNA. Translation: EAW69660.1.
CH471200 Genomic DNA. Translation: EAW69661.1.
CH471200 Genomic DNA. Translation: EAW69662.1.
BC012925 mRNA. Translation: AAH12925.1.
CCDSiCCDS47605.1. [Q9NP71-2]
CCDS47606.1. [Q9NP71-3]
CCDS5553.1. [Q9NP71-1]
CCDS5554.1. [Q9NP71-4]
RefSeqiNP_116569.1. NM_032951.2. [Q9NP71-1]
NP_116570.1. NM_032952.2. [Q9NP71-2]
NP_116571.1. NM_032953.2. [Q9NP71-3]
NP_116572.1. NM_032954.2. [Q9NP71-4]
UniGeneiHs.647055.

3D structure databases

ProteinModelPortaliQ9NP71.
SMRiQ9NP71.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119275. 5 interactors.
IntActiQ9NP71. 4 interactors.
STRINGi9606.ENSP00000320886.

PTM databases

iPTMnetiQ9NP71.
PhosphoSitePlusiQ9NP71.

Polymorphism and mutation databases

BioMutaiMLXIPL.
DMDMi20140871.

Proteomic databases

MaxQBiQ9NP71.
PaxDbiQ9NP71.
PeptideAtlasiQ9NP71.
PRIDEiQ9NP71.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000313375; ENSP00000320886; ENSG00000009950. [Q9NP71-1]
ENST00000345114; ENSP00000343767; ENSG00000009950. [Q9NP71-5]
ENST00000354613; ENSP00000346629; ENSG00000009950. [Q9NP71-4]
ENST00000414749; ENSP00000412330; ENSG00000009950. [Q9NP71-3]
ENST00000429400; ENSP00000406296; ENSG00000009950. [Q9NP71-2]
GeneIDi51085.
KEGGihsa:51085.
UCSCiuc003tyk.1. human. [Q9NP71-1]

Organism-specific databases

CTDi51085.
DisGeNETi51085.
GeneCardsiMLXIPL.
GeneReviewsiMLXIPL.
HGNCiHGNC:12744. MLXIPL.
HPAiHPA064640.
MIMi605678. gene.
neXtProtiNX_Q9NP71.
OpenTargetsiENSG00000009950.
PharmGKBiPA37353.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3582. Eukaryota.
ENOG410XTA5. LUCA.
GeneTreeiENSGT00530000063219.
HOVERGENiHBG073589.
InParanoidiQ9NP71.
KOiK09113.
OMAiQKFREYV.
OrthoDBiEOG091G02A1.
PhylomeDBiQ9NP71.
TreeFamiTF324749.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000009950-MONOMER.
ReactomeiR-HSA-163358. PKA-mediated phosphorylation of key metabolic factors.
R-HSA-163680. AMPK inhibits chREBP transcriptional activation activity.
R-HSA-163765. ChREBP activates metabolic gene expression.
R-HSA-163767. PP2A-mediated dephosphorylation of key metabolic factors.
SIGNORiQ9NP71.

Miscellaneous databases

ChiTaRSiMLXIPL. human.
GeneWikiiMLXIPL.
GenomeRNAii51085.
PROiQ9NP71.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000009950.
CleanExiHS_MLXIPL.
ExpressionAtlasiQ9NP71. baseline and differential.
GenevisibleiQ9NP71. HS.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMLXPL_HUMAN
AccessioniPrimary (citable) accession number: Q9NP71
Secondary accession number(s): C5HU02
, C5HU03, C5HU04, Q96E48, Q9BY03, Q9BY04, Q9BY05, Q9BY06, Q9Y2P3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: October 1, 2000
Last modified: November 2, 2016
This is version 149 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.