U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 51085, updated on 3-Dec-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
Compare labs

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

    UniProtKB/TrEMBL
    C5HU01
  3. XM_047420433.1XP_047276389.1  carbohydrate-responsive element-binding protein isoform X5

    UniProtKB/TrEMBL
    C5HU01
    Related
    ENSP00000392636.1, ENST00000434326.5
  4. XM_047420434.1XP_047276390.1  carbohydrate-responsive element-binding protein isoform X6

    UniProtKB/TrEMBL
    C5HU01
  5. XM_047420432.1XP_047276388.1  carbohydrate-responsive element-binding protein isoform X4

    UniProtKB/TrEMBL
    C5HU01
  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

    UniProtKB/TrEMBL
    C5HU01
  3. XM_054358322.1XP_054214297.1  carbohydrate-responsive element-binding protein isoform X5

    UniProtKB/TrEMBL
    C5HU01
  4. XM_054358323.1XP_054214298.1  carbohydrate-responsive element-binding protein isoform X6

    UniProtKB/TrEMBL
    C5HU01
  5. XM_054358321.1XP_054214296.1  carbohydrate-responsive element-binding protein isoform X4

    UniProtKB/TrEMBL
    C5HU01
  6. XM_054358319.1XP_054214294.1  carbohydrate-responsive element-binding protein isoform X2

    UniProtKB/TrEMBL
    C5HU01
  7. XM_054358320.1XP_054214295.1  carbohydrate-responsive element-binding protein isoform X3

    UniProtKB/TrEMBL
    C5HU01
  8. XM_054358318.1XP_054214293.1  carbohydrate-responsive element-binding protein isoform X1

    UniProtKB/TrEMBL
    C5HU01
  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.