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

    Gene ID: 51085, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:12744
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MLXIPL in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73593202..73647907, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74794073..74848925, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73007532..73038852, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene BAF chromatin remodeling complex subunit BCL7B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18251 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18252 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26125 Neighboring gene transducin beta like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73001900-73002400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73002401-73002901 Neighboring gene Sharpr-MPRA regulatory region 5103 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73017160-73017696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73021869-73022452 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73049903-73050752 Neighboring gene Sharpr-MPRA regulatory region 8994 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18255 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18257 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18259 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73082323-73083318 Neighboring gene VPS37D subunit of ESCRT-I Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26127 Neighboring gene DnaJ heat shock protein family (Hsp40) member C30

    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
    Williams syndrome
    MedGen: C0175702 OMIM: 194050 GeneReviews: Williams Syndrome
    not available

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.
    EBI GWAS Catalog
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    EBI GWAS Catalog
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
    EBI GWAS Catalog
    Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.
    EBI GWAS Catalog
    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.
    EBI GWAS Catalog
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    EBI GWAS Catalog
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    EBI GWAS Catalog
    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
    EBI GWAS Catalog
    Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
    EBI GWAS Catalog
    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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_009307.2 RefSeqGene

      Range
      28385..59705
      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
      C5HU02, C5HU03, C5HU04, Q96E48, Q9BY03, Q9BY04, Q9BY05, Q9BY06, Q9NP71, Q9Y2P3
      UniProtKB/TrEMBL
      C5HU01
      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/TrEMBL
      C5HU01
      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/TrEMBL
      C5HU01
      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/TrEMBL
      C5HU01
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      73593202..73647907 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420437.1XP_047276393.1  carbohydrate-responsive element-binding protein isoform X9

    2. XM_047420435.1XP_047276391.1  carbohydrate-responsive element-binding protein isoform X7

    3. XM_047420433.1XP_047276389.1  carbohydrate-responsive element-binding protein isoform X5

      Related
      ENSP00000392636.1, ENST00000434326.5
    4. XM_047420434.1XP_047276390.1  carbohydrate-responsive element-binding protein isoform X6

    5. XM_047420432.1XP_047276388.1  carbohydrate-responsive element-binding protein isoform X4

    6. XM_011516278.2XP_011514580.1  carbohydrate-responsive element-binding protein isoform X2

      UniProtKB/TrEMBL
      C5HU01
      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)
    7. XM_011516279.2XP_011514581.1  carbohydrate-responsive element-binding protein isoform X3

      UniProtKB/TrEMBL
      C5HU01
      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, ...
    8. XM_011516277.2XP_011514579.1  carbohydrate-responsive element-binding protein isoform X1

      UniProtKB/TrEMBL
      C5HU01
      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)
    9. XM_047420436.1XP_047276392.1  carbohydrate-responsive element-binding protein isoform X8

    10. XM_017012263.2XP_016867752.1  carbohydrate-responsive element-binding protein isoform X10

    RNA

    1. XR_007060040.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      74794073..74848925 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358326.1XP_054214301.1  carbohydrate-responsive element-binding protein isoform X9

    2. XM_054358324.1XP_054214299.1  carbohydrate-responsive element-binding protein isoform X7

    3. XM_054358322.1XP_054214297.1  carbohydrate-responsive element-binding protein isoform X5

    4. XM_054358323.1XP_054214298.1  carbohydrate-responsive element-binding protein isoform X6

    5. XM_054358321.1XP_054214296.1  carbohydrate-responsive element-binding protein isoform X4

    6. XM_054358319.1XP_054214294.1  carbohydrate-responsive element-binding protein isoform X2

    7. XM_054358320.1XP_054214295.1  carbohydrate-responsive element-binding protein isoform X3

    8. XM_054358318.1XP_054214293.1  carbohydrate-responsive element-binding protein isoform X1

    9. XM_054358325.1XP_054214300.1  carbohydrate-responsive element-binding protein isoform X8

    10. XM_054358327.1XP_054214302.1  carbohydrate-responsive element-binding protein isoform X10

    RNA

    1. XR_008487623.1 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.