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Aliases for MLXIPL Gene

Aliases for MLXIPL Gene

  • MLX Interacting Protein-Like 2 3
  • WBSCR14 3 4 6
  • CHREBP 3 4 6
  • Williams-Beuren Syndrome Chromosomal Region 14 Protein 3 4
  • WS Basic-Helix-Loop-Helix Leucine Zipper Protein 3 4
  • Carbohydrate Response Element Binding Protein 2 3
  • Williams Beuren Syndrome Chromosome Region 14 2 3
  • Class D Basic Helix-Loop-Helix Protein 14 3 4
  • MLX-Interacting Protein-Like 3 4
  • WS-BHLH 3 4
  • BHLHd14 3 4
  • MONDOB 3 6
  • MIO 3 4
  • Williams-Beuren Syndrome Chromosome Region 14 Protein 1 3
  • Williams-Beuren Syndrome Chromosome Region 14 Protein 2 3
  • Carbohydrate-Responsive Element-Binding Protein 3
  • Mlx Interactor 3
  • MLX Interactor 4

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. [provided by RefSeq, Jul 2008]

GeneCards Summary for MLXIPL Gene

MLXIPL (MLX Interacting Protein-Like) is a Protein Coding gene. Diseases associated with MLXIPL include hepatocellular adenoma and williams-beuren syndrome. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is MLXIP.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MLXIPL Gene

Genomics for MLXIPL Gene

Regulatory Elements for MLXIPL Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MLXIPL Gene

Start:
73,593,194 bp from pter
End:
73,624,573 bp from pter
Size:
31,380 bases
Orientation:
Minus strand

Genomic View for MLXIPL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.

    Alternative splice isoforms for MLXIPL Gene

neXtProt entry for MLXIPL Gene

Proteomics data for MLXIPL Gene at MOPED

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

Other Protein References for MLXIPL Gene

No data available for DME Specific Peptides for MLXIPL Gene

Domains for MLXIPL Gene

Protein Domains for MLXIPL Gene

Suggested Antigen Peptide Sequences for MLXIPL Gene

Graphical View of Domain Structure for InterPro Entry

Q9NP71

UniProtKB/Swiss-Prot:

MLXPL_HUMAN :
  • Q9NP71
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
genes like me logo Genes that share domains with MLXIPL: view

No data available for Gene Families 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).

Gene Ontology (GO) - Molecular Function for MLXIPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS 10780788
GO:0003700 sequence-specific DNA binding transcription factor activity NAS 10780788
GO:0005515 protein binding --
GO:0008134 transcription factor binding IPI 11230181
GO:0035538 carbohydrate response element binding TAS 18591247
genes like me logo Genes that share ontologies with MLXIPL: view
genes like me logo Genes that share phenotypes with MLXIPL: view

Animal Models for MLXIPL Gene

MGI Knock Outs for MLXIPL:

Animal Model Products

CRISPR Products

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

Localization for MLXIPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for MLXIPL Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MLXIPL Gene COMPARTMENTS Subcellular localization image for MLXIPL gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MLXIPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 10780788
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex NAS 11230181
GO:0005737 cytoplasm ISS 11230181
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MLXIPL: view

Pathways for MLXIPL Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for MLXIPL Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000320886%0d%0a9606.ENSP00000246912%0d%0a9606.ENSP00000386394%0d%0a
Selected Interacting proteins: ENSP00000320886 Q9NP71-MLXPL_HUMAN for MLXIPL Gene via STRING I2D

Gene Ontology (GO) - Biological Process for MLXIPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006112 energy reserve metabolic process TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 10780788
GO:0006357 regulation of transcription from RNA polymerase II promoter IBA --
genes like me logo Genes that share ontologies with MLXIPL: view

Compounds for MLXIPL Gene

(23) Novoseek inferred chemical compound relationships for MLXIPL Gene

Compound -log(P) Hits PubMed IDs
carbohydrates 73.7 15
polysaccharide 66.2 15
lactose 59.2 1
mannose 51.5 1
monosaccharide 51.2 1
genes like me logo Genes that share compounds with MLXIPL: view

Transcripts for MLXIPL Gene

Unigene Clusters for MLXIPL Gene

MLX interacting protein-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MLXIPL

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for MLXIPL
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry 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
ECgene alternative splicing isoforms for
MLXIPL

Expression for MLXIPL Gene

mRNA expression in normal human tissues 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 (21.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MLXIPL Gene

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

In Situ Assay Products

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 35
  • 99.22 (n)
  • 99.18 (a)
MLXIPL 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MLXIPL 35
  • 86.57 (n)
  • 85.63 (a)
MLXIPL 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MLXIPL 35
  • 88.3 (n)
  • 88.39 (a)
MLXIPL 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mlxipl 35
  • 83.41 (n)
  • 83.17 (a)
Mlxipl 16
Mlxipl 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MLXIPL 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MLXIPL 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mlxipl 35
  • 83.31 (n)
  • 83.91 (a)
lizard
(Anolis carolinensis)
Reptilia MLXIPL 36
  • 72 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC101882187 35
  • 68.41 (n)
  • 68.95 (a)
MLXIPL 36
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Mio 36
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mml-1 36
  • 19 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8341 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
OneToMany
Species with no ortholog for MLXIPL:
  • 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)

Paralogs for MLXIPL Gene

Paralogs for MLXIPL Gene

Selected SIMAP similar genes for MLXIPL Gene using alignment to 7 proteins:

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

Variants for MLXIPL Gene

Sequence variations from dbSNP and Humsavar for MLXIPL Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs799154 -- 73,613,129(-) CGCCA(C/G)TAATG intron-variant
rs799155 -- 73,611,543(-) ccacc(A/G)tgccc intron-variant
rs799156 -- 73,606,403(-) ACAAA(A/C)AAAAA intron-variant
rs799157 -- 73,605,971(-) ATCTC(A/G)GACAC reference, synonymous-codon, intron-variant
rs799158 -- 73,604,744(-) TAGAG(A/G)ACATT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv7325n71 CNV Loss 21882294
nsv888369 CNV Loss 21882294
nsv831028 CNV Loss 17160897
nsv469841 CNV Complex 16826518

Relevant External Links for MLXIPL Gene

HapMap Linkage Disequilibrium report
MLXIPL
Human Gene Mutation Database (HGMD)
MLXIPL

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

Disorders for MLXIPL Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for MLXIPL Gene including...

Search for MLXIPL Gene in 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.

(3) University of Copenhagen DISEASES for MLXIPL Gene

(18) Novoseek inferred disease relationships for MLXIPL Gene

Disease -log(P) Hits PubMed IDs
fatty liver 44 1
neoplastic processes 37.8 1
williams syndrome 35.9 2
squamous cell cancer 18.5 1
tumors 15.9 9

Relevant External Links for MLXIPL

Genetic Association Database (GAD)
MLXIPL
Human Genome Epidemiology (HuGE) Navigator
MLXIPL
genes like me logo Genes that share disorders with MLXIPL: view

Publications for MLXIPL Gene

  1. 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. … Perez Jurado L.A. (Eur. J. Hum. Genet. 2000) 3 4 23
  2. Genetic variation in genes of the fatty acid synthesis pathway and breast cancer risk. (PMID: 19252981) Campa D. … Kaaks R. (Breast Cancer Res. Treat. 2009) 3 23 48
  3. Replication of association between a common variant near melanocortin-4 receptor gene and obesity-related traits in Asian Sikhs. (PMID: 19680233) Been L.F. … Sanghera D.K. (Obesity (Silver Spring) 2010) 3 23 48
  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 M.T. (Hum. Genet. 1998) 2 3 4
  5. WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, is a new member of the Mlx transcription factor network. (PMID: 11230181) Cairo S. … Reymond A. (Hum. Mol. Genet. 2001) 3 4

Products for MLXIPL Gene

Sources for MLXIPL Gene

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