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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MLXIPL Gene

protein-coding GIFtS: 55
GCID: GC07M073007

MLX interacting protein-like

(Previous name: Williams Beuren syndrome chromosome region 14 )
(Previous symbol: WBSCR14)

Explore 31 diseases affiliated with
MLXIPL via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
MLX Interacting Protein-Like¹ ²		Williams-Beuren Syndrome Chromosomal Region 14 Protein² ³
WBSCR14¹ ² ³ ⁵		MLX-Interacting Protein-Like² ³
MIO¹ ² ³		WS Basic-Helix-Loop-Helix Leucine Zipper Protein² ³
WS-BHLH¹		Carbohydrate Response Element Binding Protein²
BHLHd14¹		Carbohydrate-Responsive Element-Binding Protein²
CHREBP¹ ² ⁵		Williams-Beuren Syndrome Chromosome Region 14 Protein 1²
MONDOB¹ ² ⁵		Williams-Beuren Syndrome Chromosome Region 14 Protein 2²
Williams Beuren Syndrome Chromosome Region 14¹ ²		BHLHD14³
Class D Basic Helix-Loop-Helix Protein 14² ³		ChREBP³
MLX Interactor² ³

External Ids:	HGNC: 12744¹	Entrez Gene: 51085²	Ensembl: ENSG00000009950⁷	OMIM: 605678⁵	UniProtKB: Q9NP71³

Export aliases for MLXIPL gene to outside databases

Previous GC identifers: GC07M072453 GC07M072645 GC07M068888

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MLXIPL:

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)

UniProtKB/Swiss-Prot: MLXPL_HUMAN, Q9NP71

Function: Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3' (By

similarity)

Gene Wiki entry for MLXIPL

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007933.15 NT_079593.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MLXIPL gene promoter:
COUP-TF1 Max1 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): MLXIPL promoter sequence

Search SABiosciences Chromatin IP Primers for MLXIPL

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MLXIPL

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q11.23 Ensembl cytogenetic band: 7q11.23 HGNC cytogenetic band: 7q11.23

MLXIPL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MLXIPL gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M073007: view genomic region (about GC identifiers)

Start:	73,007,524 bp from pter	End:	73,038,873 bp from pter
Size:	31,350 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 72,340,596-72,371,942

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MLXPL_HUMAN, Q9NP71 (See protein sequence)

Recommended Name: Carbohydrate-responsive element-binding protein

Size: 852 amino acids; 93073 Da

Subunit: Binds DNA as a heterodimer with TCFL4/MLX

Subcellular location: Nucleus

Secondary accessions: C5HU02 C5HU03 C5HU04 Q96E48 Q9BY03 Q9BY04 Q9BY05 Q9BY06 Q9Y2P3

Alternative splicing: 6 isoforms: Q9NP71-1 Q9NP71-2 Q9NP71-3 Q9NP71-4 Q9NP71-5 Q9NP71-6 (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for MLXIPL: NX_Q9NP71

Post-translational modifications:

Phosphorylation at Ser-556 by AMPK inactivates the DNA-binding activity (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9NP71

MLXIPL Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_116569.1 NP_116570.1 NP_116571.1 NP_116572.1

ENSEMBL proteins:

ENSP00000412330 ENSP00000406296 ENSP00000343767 ENSP00000320886 ENSP00000346629

ENSP00000392636 ENSP00000395172 ENSP00000402615 ENSP00000378616

Reactome Protein details: Q9NP71
Human Recombinant Protein Products:

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	GenScript Custom Purified and Recombinant Proteins Services for MLXIPL
	Novus Biologicals MLXIPL Proteins Novus Biologicals MLXIPL Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MLXIPL

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

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	--

MLXIPL for ontologies About GeneDecksing

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	Uscn Antibodies for MLXIPL
	ThermoFisher Antibody for MLXIPL

Assay Products for MLXIPL:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for MLXIPL
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	Uscn ELISAs and CLIAs for MLXIPL

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MLXIPL for domains About GeneDecksing

1 InterPro domain/family:

IPR011598 HLH_dom

Graphical View of Domain Structure for InterPro Entry Q9NP71

ProtoNet protein and cluster: Q9NP71

1 Blocks protein family: IPB001092 Basic helix-loop-helix dimerization domain bHLH

UniProtKB/Swiss-Prot: MLXPL_HUMAN, Q9NP71

Similarity: Contains 1 bHLH (basic helix-loop-helix) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MLXPL_HUMAN, Q9NP71

Function: Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3' (By

similarity)

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MLXIPL
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate MLXIPL:
		hsa-miR-1184 hsa-miR-4254 hsa-miR-520d-5p hsa-miR-767-3p hsa-miR-524-5p hsa-miR-486-3p hsa-miR-874 hsa-miR-4308

		SwitchGear 3'UTR luciferase reporter plasmid: MLXIPL 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MLXIPL (see all 7) OriGene shRNA RFP: MLXIPL OriGene siRNA: MLXIPL
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MLXIPL

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for MLXIPL

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MLXIPL
		Search LifeMap BioReagents cell lines for MLXIPL

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLXIPL

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

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

MLXIPL for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Mlxipl^tm1Kuy for MLXIPL
     4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Mlxipl):

adipose tissue

homeostasis/metabolism

liver/biliary system

mortality/aging

MLXIPL for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

AMPK inhibits chREBP transcriptional activation activity

AMPK inhibits chREBP transcriptional activation activity

1.00

PKA-mediated phosphorylation of key metabolic factors

PKA-mediated phosphorylation of key metabolic factors

1.00

Metformin Pathway, Pharmacodynamic

Metformin Pathway, Pharmacodynamic

1.00

Metabolism

Metabolism

1.00

Regulation of Insulin Secretion

Integration of energy metabolism

0.74

Pathway sources
See GeneCards unified pathways
Show all pathways

5/6 Reactome Pathways for MLXIPL (see all 6)

	AMPK inhibits chREBP transcriptional activation activity
	PP2A-mediated dephosphorylation of key metabolic factors
	PKA-mediated phosphorylation of key metabolic factors
	ChREBP activates metabolic gene expression
	Metabolism

1 PharmGKB Pathway for MLXIPL

Metformin Pathway, Pharmacodynamic

MLXIPL for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MLXIPL

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

5/11 Interacting proteins for MLXIPL (Q9NP71³ ENSP00000320886⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MLX	Q9UH92³, ENSP00000246912⁴	I2D: score=2 STRING: ENSP00000246912
NIF3L1	Q9GZT8³, ENSP00000386394⁴	I2D: score=1 STRING: ENSP00000386394
ACACB	ENSP00000367079⁴	STRING: ENSP00000367079
ACLY	ENSP00000253792⁴	STRING: ENSP00000253792
FASN	ENSP00000304592⁴	STRING: ENSP00000304592

About this table

Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24): About this table

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-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	NAS	10780788
GO:0007243	intracellular protein kinase cascade	TAS	--

MLXIPL for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MLXIPL for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MLXIPL
10/23 Novoseek chemical compound relationships for MLXIPL gene (see all 23) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
carbohydrates	73.7	16	15649033 (1), 17674202 (1), 17991443 (1), 2183675 (1) (see all 15)
polysaccharide	66.2	17	17922555 (2), 18365713 (1), 18083059 (1), 18762193 (1) (see all 14)
lactose	59.2	1	7852273 (1)
mannose	51.5	1	1730714 (1)
monosaccharide	51.2	1	17656321 (1)
n-acetylglucosamine	49.1	3	7887967 (1), 2401636 (1)
sterol	42.4	10	15733741 (2), 16368706 (1), 17379603 (1), 12897191 (1) (see all 8)
n-acetyllactosamine	42.3	3	8526926 (1), 16925668 (1)
acetyl-coa	38.1	3	16885160 (1), 12897191 (1), 18684130 (1)
glucose	35.8	139	16375857 (7), 18591247 (7), 18436566 (7), 16891625 (5) (see all 27)

Search CenterWatch for drugs/clinical trials and news about MLXIPL / MLXPL

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MLXIPL gene (5 alternative transcripts):

NM_032951.2 NM_032952.2 NM_032953.2 NM_032954.2 NM_032994.2

Unigene Cluster for MLXIPL:

MLX interacting protein-like

Hs.647055 [show with all ESTs]

Unigene Representative Sequence: NM_032951

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000414749 ENST00000429400 ENST00000345114 ENST00000313375(uc003tym.1 uc003tyl.1 uc003tyn.1 uc003tyo.1)

ENST00000354613(uc003tyk.1) ENST00000434326(uc003typ.1) ENST00000467221

ENST00000476404(uc003tyq.1) ENST00000453275 ENST00000488212 ENST00000456640

ENST00000395189(uc003tyj.1)

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MLXIPL
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate MLXIPL:
		hsa-miR-1184 hsa-miR-4254 hsa-miR-520d-5p hsa-miR-767-3p hsa-miR-524-5p hsa-miR-486-3p hsa-miR-874 hsa-miR-4308

		SwitchGear 3'UTR luciferase reporter plasmid: MLXIPL 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MLXIPL (see all 7) OriGene shRNA RFP: MLXIPL OriGene siRNA: MLXIPL
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MLXIPL

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MLXIPL (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MLXIPL (see all 5) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): MLXIPL (NM_032951)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MLXIPL
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MLXIPL

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MLXIPL Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MLXIPL

Additional cDNA sequence:

AF156603.1 AF245470.1 AF245471.1 AF245472.1 AF245473.1 AF245474.1 BC012925.1

6 DOTS entries:

DT.100779644 DT.412860 DT.100021442 DT.100646390 DT.99991749 DT.95169145

24/108 AceView cDNA sequences (see all 108):

AA470823 BM746017 AI283253 NM_032953 BM746031 AW177546 BM451563 BM783388

NM_032954 BC012925 BM785015 CB306354 NM_032952 AF245470 NM_032951 AW026685

AF245471 CA503344 BF590519 AA503070 AF245474 AI076668 AF245473 BU950685

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for MLXIPL (see all 8) About this scheme

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:

ExUns:	17
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for MLXIPL

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MLXIPL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTGATGACT

About this image

MLXIPL expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Liver Lobule

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MLXIPL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MLXIPL

SOURCE GeneReport for Unigene cluster: Hs.647055

UniProtKB/Swiss-Prot: MLXPL_HUMAN, Q9NP71

Tissue specificity: Expressed in liver, heart, kidney, cerebellum and intestinal tissues

SABiosciences Expression via Pathway-Focused PCR Arrays including MLXIPL:

Hepatotoxicity in human mouse rat

Fatty Liver in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MLXIPL Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat MLXIPL
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MLXIPL
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MLXIPL

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLXIPL

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for MLXIPL gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MLXIPL¹	MLX interacting protein-like	65.78(n) 61.78(a)		425603 NM_001110841.1 NP_001104311.1
lizard (Anolis carolinensis)	Reptilia	MLXIPL⁶ MLXIPL⁶ (see all 3)	--	84(a) 81(a) (see all 3)	1 ↔ 1 possible ortholog (see all 3)	GL344691.1(1506-2337) AAWZ02040043(1680-2239)
zebrafish (Danio rerio)	Actinopterygii	si:ch1073-189o9.1⁶	si:ch1073-189o9.1	44(a)	1 ↔ 1	5(3836562-3902996)
fruit fly (Drosophila melanogaster)	Insecta	Mio⁶	Mlx interactor	18(a)	possible ortholog	2L(21286078-21310032)
worm (Caenorhabditis elegans)	Secernentea	mml-1⁶	Protein WBSCR14 homolog	18(a)	1 → many	III(7370066-7374660)

ENSEMBL Gene Tree for MLXIPL (if available)
TreeFam Gene Tree for MLXIPL (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MLXIPL gene

MLX² MLXIP²

1 SIMAP similar gene for MLXIPL using alignment to 4 protein entries: MLXPL_HUMAN (see all proteins):

MLXIP

MLXIPL for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs68193186^1,2	C,F,	--	72340532(+)	`AAAGCC/TACTTC`	4	--	ds500¹		4		NS NA	494
rs77607491^1,2	C,F,	--	72340549(+)	`CCAACA/GGGCTC`	4	--	ds500¹		1		WA	118
rs111426122^1,2	C,	--	72340660(+)	`ACATCCA/-CACAC`	4	--	ut3¹		1		CSA	2
rs1051943^1,2	C,F,	--	72340678(-)	`GCATCA/GTGTGT`	4	--	ut3¹		8		MN NA NS	774
rs72649010^1,2	C	--	72340741(+)	`TGGCCT/ACTCCC`	4	--	ut3¹		1		NS	376
rs58878733^1,2		--	72341987(+)	`GCTCTA/GTCACC`	4	--	int¹		0	--	--	--	--
rs77789746^1,2	C,	--	72345713(+)	`TAACAT/CATTAA`	4	--	int¹		2		CSA WA	120
rs77163340^1,2	C,F,	--	72346229(+)	`CTGAAC/TTGCAC`	4	--	int¹		1		WA	118
rs72649013^1,2	F	--	72346455(+)	`ACAGAG/ATGAGA`	4	--	int¹		1		NS	376
rs74409642^1,2	C,	--	72346809(+)	`TCCCTC/TCAATC`	4	--	int¹		2		CSA WA	120

HapMap Linkage Disequilibrium report for MLXIPL (73007524 - 73038873 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MLXIPL: --
Human Gene Mutation Database (HGMD): MLXIPL

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MLXIPL for disorders About GeneDecksing

OMIM gene information: 605678 OMIM disorders: --

UniProtKB/Swiss-Prot: MLXPL_HUMAN, Q9NP71

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

20/31 diseases for MLXIPL (see all 31): About MalaCards

williams-beuren syndrome open-angle glaucoma primary open angle glaucoma duchenne muscular dystrophy

muscular dystrophy williams syndrome oral squamous cell carcinoma fatty liver disease

squamous cell carcinoma glaucoma coronary heart disease liver disease

balanitis chordoma hypertriglyceridemia prostate carcinoma

prostate cancer breast cancer carcinoma prostatitis

3 diseases from the University of Copenhagen DISEASES database for MLXIPL:

Fatty liver disease Diabetes mellitus Williams-Beuren syndrome

10/18 Novoseek disease relationships for MLXIPL gene (see all 18) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
fatty liver	44	2	18950580 (1)
neoplastic processes	37.8	1	11748478 (1)
williams syndrome	35.9	2	10780788 (1), 15100094 (1)
squamous cell cancer	18.5	1	11795826 (1)
tumors	15.9	11	8864733 (1), 9394742 (1), 19995986 (1), 10702407 (1) (see all 9)
prostate carcinoma	15.6	2	19052253 (1)
inflammation	15	3	8913692 (1), 15191517 (1), 20153309 (1)
cancer	11.5	11	8269974 (1), 19252981 (1), 11927277 (1), 19287997 (1) (see all 8)
obesity	8.35	2	17978749 (1), 19223519 (1)
metastasis	5.96	5	10702407 (1), 19217525 (1), 9264362 (1), 17724007 (1)

Human Genome Epidemiology (HuGE) Navigator: MLXIPL (22 documents)

Export disorders for MLXIPL gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MLXIPL gene, integrated from 9 sources (see all 240):
(articles sorted by number of sources associating them with MLXIPL)

Utopia: connect your pdf to the dynamic
world of online information

Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. (PubMed id 9860302)^{1, 2, 3} Meng X....Keating M.T. (1998)
WBSCR14, a putative transcription factor gene deleted in Williams- Beuren syndrome: complete characterisation of the human gene and the mouse ortholog. (PubMed id 10780788)^{1, 2, 9} de Luis O.... Perez Jurado L.A. (2000)
An unappreciated role for RNA surveillance. (PubMed id 14759258)^{1, 2} Hillman R.T.... Brenner S.E. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, is a new member of the Mlx transcription factor network. (PubMed id 11230181)^{1, 2} Cairo S.... Reymond A. (2001)
Regulation of nuclear import/export of carbohydrate response element-binding protein (ChREBP): interaction of an alpha-helix of ChREBP with the 14-3-3 proteins and regulation by phosphorylation. (PubMed id 18606808)^{1, 9} Sakiyama H....Uyeda K. (2008)
Glucose activates ChREBP by increasing its rate of nuclear entry and relieving repression of its transcriptional activity. (PubMed id 18591247)^{1, 9} Davies M.N....Towle H.C. (2008)
Coordinate regulation/localization of the carbohydrat e responsive binding protein (ChREBP) by two nuclear export signal sites: disco very of a new leucine-rich nuclear export signal site. (PubMed id 20025850)^{1, 9} Fukasawa M....Uyeda K. (2010)
The glucose-responsive transcription factor ChREBP co ntributes to glucose-dependent anabolic synthesis and cell proliferation. (PubMed id 19995986)^{1, 9} Tong X....Thompson C.B. (2009)
Mlx is the functional heteromeric partner of the carbohydrate response element-binding protein in glucose regulation of lipogenic enzyme genes. (PubMed id 14742444)^{1, 9} Stoeckman A.K....Towle H.C. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 51085	HGNC: 12744	AceView: WBSCR14	Ensembl:ENSG00000009950	euGenes: HUgn51085
ECgene: MLXIPL	H-InvDB: MLXIPL

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MLXIPL	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MLXIPL gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MLXIPL gene:
Search GeneIP for patents involving MLXIPL

GeneCards and IP:
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MLXIPL Gene

MLX interacting protein-like

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MLXIPL (Gene Symbol)
MLX Interacting Protein-Like
WBSCR14
MIO
WS-BHLH
BHLHd14
CHREBP
MONDOB
Williams Beuren Syndrome Chromosome Region 14
Class D Basic Helix-Loop-Helix Protein 14
MLX Interactor
Williams-Beuren Syndrome Chromosomal Region 14 Protein
MLX-Interacting Protein-Like
WS Basic-Helix-Loop-Helix Leucine Zipper Protein
Carbohydrate Response Element Binding Protein
Carbohydrate-Responsive Element-Binding Protein
Williams-Beuren Syndrome Chromosome Region 14 Protein 1
Williams-Beuren Syndrome Chromosome Region 14 Protein 2
BHLHD14
ChREBP

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MLXIPL Gene

MLX interacting protein-like

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