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 developmenta... See more...

Aliases for MLXIPL Gene

Aliases for MLXIPL Gene

  • MLX Interacting Protein Like 2 3 5
  • Williams-Beuren Syndrome Chromosomal Region 14 Protein 3 4
  • WS Basic-Helix-Loop-Helix Leucine Zipper Protein 3 4
  • Carbohydrate-Responsive Element-Binding Protein 3 4
  • Williams Beuren Syndrome Chromosome Region 14 2 3
  • Carbohydrate Response Element Binding Protein 2 3
  • Class D Basic Helix-Loop-Helix Protein 14 3 4
  • WBSCR14 3 4
  • WS-BHLH 3 4
  • BHLHd14 3 4
  • MIO 3 4
  • Williams-Beuren Syndrome Chromosome Region 14 Protein 1 3
  • Williams-Beuren Syndrome Chromosome Region 14 Protein 2 3
  • Williams-Beuren Syndrome Chromosome Region 14 Protein 3 3
  • MLX-Interacting Protein-Like 4
  • MLX Interacting Protein-Like 2
  • Mlx Interactor 3
  • MLX Interactor 4
  • BHLHD14 4
  • CHREBP 3
  • MONDOB 3
  • ChREBP 4
  • MLX 3

External Ids for MLXIPL Gene

Previous HGNC Symbols for MLXIPL Gene

  • WBSCR14

Previous GeneCards Identifiers for MLXIPL Gene

  • GC07M072453
  • GC07M072645
  • GC07M073007
  • GC07M068888

Summaries for MLXIPL Gene

Entrez Gene Summary for MLXIPL 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]

GeneCards Summary for MLXIPL Gene

MLXIPL (MLX Interacting Protein Like) is a Protein Coding gene. Diseases associated with MLXIPL include Williams-Beuren Syndrome and Fatty Liver Disease. Among its related pathways are Integration of energy metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is MLXIP.

UniProtKB/Swiss-Prot Summary for MLXIPL Gene

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

Gene Wiki entry for MLXIPL Gene

Additional gene information for MLXIPL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MLXIPL Gene

Genomics for MLXIPL Gene

GeneHancer (GH) Regulatory Elements for MLXIPL Gene

Promoters and enhancers for MLXIPL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MLXIPL on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MLXIPL

Top Transcription factor binding sites by QIAGEN in the MLXIPL gene promoter:
  • c-Myc
  • COUP-TF1
  • Max1

Genomic Locations for MLXIPL Gene

Genomic Locations for MLXIPL Gene
chr7:73,593,194-73,624,543
(GRCh38/hg38)
Size:
31,350 bases
Orientation:
Minus strand
chr7:73,007,524-73,038,873
(GRCh37/hg19)
Size:
31,350 bases
Orientation:
Minus strand

Genomic View for MLXIPL Gene

Genes around MLXIPL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MLXIPL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MLXIPL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MLXIPL Gene

Proteins for MLXIPL Gene

  • Protein details for MLXIPL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP71-MLXPL_HUMAN
    Recommended name:
    Carbohydrate-responsive element-binding protein
    Protein Accession:
    Q9NP71
    Secondary Accessions:
    • C5HU02
    • C5HU03
    • C5HU04
    • Q96E48
    • Q9BY03
    • Q9BY04
    • Q9BY05
    • Q9BY06
    • Q9Y2P3

    Protein attributes for MLXIPL Gene

    Size:
    852 amino acids
    Molecular mass:
    93073 Da
    Quaternary structure:
    • Binds DNA as a heterodimer with TCFL4/MLX.
    Miscellaneous:
    • [Isoform 5]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for MLXIPL Gene

neXtProt entry for MLXIPL Gene

Post-translational modifications for MLXIPL Gene

  • Phosphorylation at Ser-556 by AMPK inactivates the DNA-binding activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MLXIPL Gene

Domains & Families for MLXIPL Gene

Gene Families for MLXIPL Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for MLXIPL Gene

Blocks:
  • Basic helix-loop-helix dimerization domain bHLH
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MLXIPL Gene

GenScript: Design optimal peptide antigens:
  • Williams-Beuren syndrome chromosome region 14 protein 2 (C5HU01_HUMAN)
  • WS basic-helix-loop-helix leucine zipper protein (WBS14_HUMAN)
genes like me logo Genes that share domains with MLXIPL: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MLXIPL Gene

Function for MLXIPL Gene

Molecular function for MLXIPL Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3' (By similarity).

Phenotypes From GWAS Catalog for MLXIPL Gene

Gene Ontology (GO) - Molecular Function for MLXIPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding NAS 10780788
GO:0003700 DNA-binding transcription factor activity NAS 10780788
genes like me logo Genes that share ontologies with MLXIPL: view
genes like me logo Genes that share phenotypes with MLXIPL: view

Human Phenotype Ontology for MLXIPL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MLXIPL Gene

MGI Knock Outs for MLXIPL:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MLXIPL Gene

Localization for MLXIPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for MLXIPL Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MLXIPL gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 2
extracellular 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MLXIPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005623 cell IEA --
GO:0005634 nucleus NAS,IDA 10780788
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex NAS 11230181
genes like me logo Genes that share ontologies with MLXIPL: view

Pathways & Interactions for MLXIPL Gene

genes like me logo Genes that share pathways with MLXIPL: view

SIGNOR curated interactions for MLXIPL Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for MLXIPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 10780788
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0008284 positive regulation of cell proliferation IMP 19995986
GO:0009653 anatomical structure morphogenesis TAS 9860302
genes like me logo Genes that share ontologies with MLXIPL: view

Drugs & Compounds for MLXIPL Gene

(10) Drugs for MLXIPL Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(13) Additional Compounds for MLXIPL Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MLXIPL: view

Transcripts for MLXIPL Gene

mRNA/cDNA for MLXIPL Gene

5 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MLXIPL Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^
SP1: - -
SP2: -
SP3: -
SP4:
SP5:
SP6: - - - - - - - -
SP7:
SP8:

ExUns: 17
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for MLXIPL Gene

GeneLoc Exon Structure for
MLXIPL

Expression for MLXIPL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MLXIPL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MLXIPL Gene

This gene is overexpressed in Liver (x21.4).

Protein differential expression in normal tissues from HIPED for MLXIPL Gene

This gene is overexpressed in Urine (59.8) and Plasma (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MLXIPL Gene



Protein tissue co-expression partners for MLXIPL Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MLXIPL

SOURCE GeneReport for Unigene cluster for MLXIPL Gene:

Hs.647055

mRNA Expression by UniProt/SwissProt for MLXIPL Gene:

Q9NP71-MLXPL_HUMAN
Tissue specificity: Expressed in liver, heart, kidney, cerebellum and intestinal tissues.

Evidence on tissue expression from TISSUES for MLXIPL Gene

  • Liver(4.7)
  • Eye(4)
  • Muscle(2.2)
  • Pancreas(2.2)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with MLXIPL: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MLXIPL Gene

Orthologs for MLXIPL Gene

This gene was present in the common ancestor of animals.

Orthologs for MLXIPL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MLXIPL 31 30
  • 99.22 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MLXIPL 31 30
  • 88.3 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MLXIPL 31 30
  • 86.57 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mlxipl 17 31 30
  • 83.41 (n)
rat
(Rattus norvegicus)
Mammalia Mlxipl 30
  • 83.31 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MLXIPL 31
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MLXIPL 31
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MLXIPL 31
  • 72 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC101882187 30
  • 68.41 (n)
MLXIPL 31
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Mio 31
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mml-1 31
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 28 (a)
OneToMany
Cin.8341 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8341 30
Species where no ortholog for MLXIPL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MLXIPL Gene

ENSEMBL:
Gene Tree for MLXIPL (if available)
TreeFam:
Gene Tree for MLXIPL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MLXIPL: view image

Paralogs for MLXIPL Gene

Paralogs for MLXIPL Gene

(1) SIMAP similar genes for MLXIPL Gene using alignment to 7 proteins:

  • MLXPL_HUMAN
  • C5HU01_HUMAN
  • C9JDF5_HUMAN
  • H7C1V3_HUMAN
  • S5LSP3_HUMAN
  • S5LVX6_HUMAN
  • S5M7A5_HUMAN
genes like me logo Genes that share paralogs with MLXIPL: view

Variants for MLXIPL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MLXIPL Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
707977 Benign: not provided 73,597,231(-) G/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
708718 Likely Benign: not provided 73,595,861(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
709123 Benign: not provided 73,597,689(-) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
709124 Benign: not provided 73,605,715(-) T/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
711984 Benign: not provided 73,606,110(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for MLXIPL Gene

Structural Variations from Database of Genomic Variants (DGV) for MLXIPL Gene

Variant ID Type Subtype PubMed ID
nsv1023520 CNV gain 25217958
nsv1075032 CNV deletion 25765185
nsv1075969 CNV deletion 25765185
nsv1133659 CNV deletion 24896259
nsv1144179 CNV deletion 24896259
nsv1145142 CNV deletion 24896259
nsv469841 CNV loss 16826518
nsv831028 CNV loss 17160897

Variation tolerance for MLXIPL Gene

Residual Variation Intolerance Score: 44.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.99; 79.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MLXIPL Gene

Human Gene Mutation Database (HGMD)
MLXIPL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MLXIPL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MLXIPL Gene

Disorders for MLXIPL Gene

MalaCards: The human disease database

(9) MalaCards diseases for MLXIPL Gene - From: GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • wbs
fatty liver disease
  • steatosis of liver
non-alcoholic fatty liver disease
  • nafld
liver disease
  • disorder of liver
hepatocellular adenoma
  • adenoma hepatocellular
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MLXPL_HUMAN
  • 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. {ECO:0000269 PubMed:10780788}.

Additional Disease Information for MLXIPL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MLXIPL: view

No data available for Genatlas for MLXIPL Gene

Publications for MLXIPL Gene

  1. Replication of association between a common variant near melanocortin-4 receptor gene and obesity-related traits in Asian Sikhs. (PMID: 19680233) Been LF … Sanghera DK (Obesity (Silver Spring, Md.) 2010) 3 23 41 54
  2. Genetic variation in genes of the fatty acid synthesis pathway and breast cancer risk. (PMID: 19252981) Campa D … Kaaks R (Breast cancer research and treatment 2009) 3 23 41 54
  3. WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog. (PMID: 10780788) de Luis O … Jurado LA (European journal of human genetics : EJHG 2000) 3 4 23 54
  4. Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. (PMID: 9860302) Meng X … Keating MT (Human genetics 1998) 2 3 4 54
  5. Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. (PMID: 22399527) Kristiansson K … Salomaa V (Circulation. Cardiovascular genetics 2012) 3 41 54

Products for MLXIPL Gene

Sources for MLXIPL Gene