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MLXIPL MLX interacting protein like [ Homo sapiens (human) ]

Gene ID: 51085, updated on 6-Sep-2020

Summary

Official Symbol
MLXIPLprovided by HGNC
Official Full Name
MLX interacting protein likeprovided by HGNC
Primary source
HGNC:HGNC:12744
See related
Ensembl:ENSG00000009950 MIM:605678
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MIO; MLX; CHREBP; MONDOB; WBSCR14; WS-bHLH; bHLHd14
Summary
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]
Expression
Biased expression in fat (RPKM 35.0), liver (RPKM 27.7) and 8 other tissues See more
Orthologs

Genomic context

See MLXIPL in Genome Data Viewer
Location:
7q11.23
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (73593201..73624522, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73007524..73038903, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene BAF chromatin remodeling complex subunit BCL7B Neighboring gene transducin beta like 2 Neighboring gene Sharpr-MPRA regulatory region 8994 Neighboring gene VPS37D subunit of ESCRT-I

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Common variants at 30 loci contribute to polygenic dyslipidemia.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.
GeneReviews: Not available
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
GeneReviews: Not available
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
GeneReviews: Not available
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
GeneReviews: Not available
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
GeneReviews: Not available
Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
GeneReviews: Not available
Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.
GeneReviews: Not available
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.
GeneReviews: Not available
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
GeneReviews: Not available
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
GeneReviews: Not available
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
GeneReviews: Not available
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
GeneReviews: Not available
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
GeneReviews: Not available
Williams syndrome
MedGen: C0175702 OMIM: 194050 GeneReviews: Williams Syndrome
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity NAS
Non-traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
carbohydrate response element binding TAS
Traceable Author Statement
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
NOT protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
energy homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
fatty acid homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
glucose homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
glucose mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular signal transduction TAS
Traceable Author Statement
more info
 
negative regulation of cell cycle arrest IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of oxidative phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of peptidyl-serine phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of fatty acid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of glycolytic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of lipid biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
triglyceride homeostasis NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
transcription factor complex NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
carbohydrate-responsive element-binding protein
Names
Mlx interactor
WS basic-helix-loop-helix leucine zipper protein
Williams Beuren syndrome chromosome region 14
Williams-Beuren syndrome chromosome region 14 protein 1
Williams-Beuren syndrome chromosome region 14 protein 2
Williams-Beuren syndrome chromosome region 14 protein 3
carbohydrate response element binding protein
class D basic helix-loop-helix protein 14
williams-Beuren syndrome chromosomal region 14 protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009307.1 RefSeqGene

    Range
    5019..36339
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032951.3NP_116569.1  carbohydrate-responsive element-binding protein isoform alpha

    See identical proteins and their annotated locations for NP_116569.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (alpha).
    Source sequence(s)
    AF156603, AF245470, BC012925
    Consensus CDS
    CCDS5553.1
    UniProtKB/Swiss-Prot
    Q9NP71
    Related
    ENSP00000320886.3, ENST00000313375.8
    Conserved Domains (2) summary
    cd00083
    Location:648708
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    cl21462
    Location:694735
    bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
  2. NM_032952.3NP_116570.1  carbohydrate-responsive element-binding protein isoform beta

    See identical proteins and their annotated locations for NP_116570.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1, resulting in a shorter protein (isoform beta).
    Source sequence(s)
    AF156603, AF245471, BC012925
    Consensus CDS
    CCDS47605.1
    UniProtKB/Swiss-Prot
    Q9NP71
    Related
    ENSP00000406296.2, ENST00000429400.6
    Conserved Domains (1) summary
    cd00083
    Location:648680
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
  3. NM_032953.3NP_116571.1  carbohydrate-responsive element-binding protein isoform gamma

    See identical proteins and their annotated locations for NP_116571.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the coding region, compared to variant 1, resulting in a shorter protein (isoform gamma).
    Source sequence(s)
    AF156603, AF245472, BC012925
    Consensus CDS
    CCDS47606.1
    UniProtKB/Swiss-Prot
    Q9NP71
    Related
    ENSP00000412330.2, ENST00000414749.6
    Conserved Domains (2) summary
    cd00083
    Location:645706
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    cl21462
    Location:692733
    bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
  4. NM_032954.3NP_116572.1  carbohydrate-responsive element-binding protein isoform delta

    See identical proteins and their annotated locations for NP_116572.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the coding region, compared to variant 1, resulting in a shorter protein (isoform delta).
    Source sequence(s)
    AF156603, AF245473, BC012925
    Consensus CDS
    CCDS5554.1
    UniProtKB/Swiss-Prot
    Q9NP71
    Related
    ENSP00000346629.1, ENST00000354613.5
    Conserved Domains (1) summary
    cd00083
    Location:645678
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

RNA

  1. NR_134541.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF245474, BC012925, BG772360
    Related
    ENST00000345114.9

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    73593201..73624522 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516278.1XP_011514580.1  carbohydrate-responsive element-binding protein isoform X2

    Conserved Domains (2) summary
    cd00083
    Location:712772
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    pfam08614
    Location:651792
    ATG16; Autophagy protein 16 (ATG16)
  2. XM_011516279.1XP_011514581.1  carbohydrate-responsive element-binding protein isoform X3

    Conserved Domains (1) summary
    cd00083
    Location:713769
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
  3. XM_011516277.1XP_011514579.1  carbohydrate-responsive element-binding protein isoform X1

    Conserved Domains (2) summary
    cd00083
    Location:713773
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    pfam08614
    Location:652793
    ATG16; Autophagy protein 16 (ATG16)
  4. XM_017012263.1XP_016867752.1  carbohydrate-responsive element-binding protein isoform X6

  5. XM_024446784.1XP_024302552.1  carbohydrate-responsive element-binding protein isoform X5

    Conserved Domains (3) summary
    cd00083
    Location:371431
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    cl21462
    Location:417458
    bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
    cl26464
    Location:7356
    Atrophin-1; Atrophin-1 family
  6. XM_011516281.2XP_011514583.1  carbohydrate-responsive element-binding protein isoform X4

    Conserved Domains (2) summary
    cd00083
    Location:372432
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    cl21462
    Location:418459
    bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain

RNA

  1. XR_001744799.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_032994.2: Suppressed sequence

    Description
    NM_032994.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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