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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 developmenta... See more...
Aliases for MLXIPL Gene
Aliases for MLXIPL Gene
- MLX Interacting Protein Like 2 3 5
- WS-BHLH 2 3 4
- BHLHd14 2 3 4
- MIO 2 3 4
- Williams-Beuren Syndrome Chromosomal Region 14 Protein 3 4
- WS Basic-Helix-Loop-Helix Leucine Zipper Protein 3 4
- Carbohydrate-Responsive Element-Binding 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
- WBSCR14 3 4
- CHREBP 2 3
- MONDOB 2 3
- Williams-Beuren Syndrome Chromosome Region 14 Protein 1 3
- Williams-Beuren Syndrome Chromosome Region 14 Protein 2 3
- Williams-Beuren Syndrome Chromosome Region 14 Protein 3 3
- MLX Interacting Protein-Like 2
- MLX-Interacting Protein-Like 4
- Mlx Interactor 3
- MLX Interactor 4
- BHLHD14 4
- MLXIPL 5
- ChREBP 4
- MLX 3
External Ids for MLXIPL Gene
- HGNC: 12744
- Entrez Gene: 51085
- Ensembl: ENSG00000009950
- OMIM: 605678
- UniProtKB: Q9NP71
Previous HGNC Symbols for MLXIPL Gene
- WBSCR14
Previous GeneCards Identifiers for MLXIPL Gene
- GC07M072453
- GC07M072645
- GC07M073007
- GC07M068888
Summaries 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
GeneCards Summary for MLXIPL Gene
MLXIPL (MLX Interacting Protein Like) is a Protein Coding gene. Diseases associated with MLXIPL include Williams-Beuren Syndrome and Fatty Liver Disease. Among its related pathways are Integration of energy metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is MLXIP.
UniProtKB/Swiss-Prot Summary for MLXIPL Gene
-
Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3' (By similarity).
Additional gene information for MLXIPL Gene
- HGNC(12744)
- Entrez Gene(51085)
- Ensembl(ENSG00000009950)
- OMIM(605678)
- UniProtKB(Q9NP71)
- Open Targets Platform(ENSG00000009950)
- Monarch Initiative
- Search for MLXIPL at DataMed
- Search for MLXIPL at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MLXIPL Gene
Genomics for MLXIPL Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for MLXIPL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around MLXIPL on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MLXIPL
- Top Transcription factor binding sites by QIAGEN in the MLXIPL gene promoter:
-
- c-Myc
- COUP-TF1
- Max1
Genomic Locations for MLXIPL Gene
Genomic Locations for MLXIPL Gene
- chr7:73,593,194-73,624,543
- (GRCh38/hg38)
- Size:
- 31,350 bases
- Orientation:
- Minus strand
- chr7:73,007,524-73,038,873
- (GRCh37/hg19)
- Size:
- 31,350 bases
- Orientation:
- Minus strand
Genomic View for MLXIPL Gene
Genes around MLXIPL on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q11.23 by HGNC
- 7q11.23 by Entrez Gene
- 7q11.23 by Ensembl
MLXIPL Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
- Miscellaneous:
-
- [Isoform 5]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Protein Expression for MLXIPL Gene
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
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences MLXIPL / CHREBP Antibody
-
Custom Antibody ServicesOriGene Antibodies for MLXIPL
- Novus Biologicals Antibodies for MLXIPL
-
Abcam antibodies for MLXIPL
- Invitrogen Antibodies for MLXIPL (AFLGC-MLXIPL)
- antibodies-online: Show 30 available MLXIPL Antibodies ranked by validation data
- Compare Top MLXIPL Antibodies
-
Recommended
- 95 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 10 IF Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 46 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IF Antibody (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 32 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
-
Biorbyt antibodies for MLXIPL
-
Boster Bio Antibodies for MLXIPL
-
Santa Cruz Biotechnology (SCBT) Antibodies for MLXIPL
Protein Products
-
OriGene Purified Proteins for MLXIPL
- Search Origene for MassSpec and Protein Over-expression Lysates for MLXIPL
- Origene Custom Protein Services for MLXIPL
-
Abcam proteins for MLXIPL
No data available for DME Specific Peptides for MLXIPL Gene
Domains & Families for MLXIPL Gene
Gene Families for MLXIPL Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Transcription factors
Protein Domains for MLXIPL Gene
- InterPro:
- Blocks:
-
- Basic helix-loop-helix dimerization domain bHLH
- ProtoNet:
Suggested Antigen Peptide Sequences for MLXIPL Gene
- GenScript: Design optimal peptide antigens:
-
- Williams-Beuren syndrome chromosome region 14 protein 2 (C5HU01_HUMAN)
- WS basic-helix-loop-helix leucine zipper protein (WBS14_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot 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).
Phenotypes From GWAS Catalog for MLXIPL Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA | -- |
| GO:0003677 | DNA binding | NAS | 10780788 |
| GO:0003700 | DNA-binding transcription factor activity | NAS | 10780788 |
Phenotypes for MLXIPL Gene
- MGI mutant phenotypes for MLXIPL:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for MLXIPL:
-
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Decreased viability
- Decreased vaccinia virus (VACV) infection
- shRNA abundance <= 25%
- Increased endosome-nucleus distance (endosomes dispersed in the cell periphery)
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Synthetic lethal with vaccinia virus (VACV) infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
- Increased free cholesterol
Animal Models for MLXIPL Gene
- MGI Knock Outs for MLXIPL:
-
- Mlxipl Mlxipl<tm1Kuy>
Animal Model Products
-
Taconic Biosciences Mouse Models for MLXIPL
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MLXIPL - Select products 50% OFF >
- * MLXIPL CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MLXIPL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MLXIPL
-
Santa Cruz Biotechnology (SCBT) CRISPR for MLXIPL
miRNA for MLXIPL Gene
- miRTarBase miRNAs that target MLXIPL
-
- hsa-miR-6894-3p (MIRT609726)
- hsa-miR-4763-5p (MIRT609727)
- hsa-miR-1322 (MIRT609728)
- hsa-miR-4643 (MIRT609729)
- hsa-miR-8485 (MIRT609730)
- hsa-miR-3692-3p (MIRT615315)
- hsa-miR-6881-3p (MIRT615316)
- hsa-miR-3124-3p (MIRT615317)
- hsa-miR-130b-5p (MIRT615318)
- hsa-miR-877-3p (MIRT615319)
- hsa-miR-660-3p (MIRT615320)
- hsa-miR-5193 (MIRT615321)
- hsa-miR-5196-3p (MIRT615322)
- hsa-miR-18a-3p (MIRT629338)
- rno-miR-19b-3p (MIRT734154)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MLXIPL
- Browse OriGene Inhibitory RNA Products For MLXIPL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MLXIPL
Clone Products
- Applied Biological Materials (abm): Clones for MLXIPL - Select products 50% OFF >
- * MLXIPL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG222319
- MR222319
- MR222319L3
- MR222319L4
- RC212773
- RC212773L3
- RC212773L4
- RC213893
- RC213893L3
- RC213893L4
- RC220626
- RC220626L1
- RC220626L2
- RC220626L3
- RC220626L4
- RC224242
- RC224242L3
- RC224242L4
- RG212773
- RG213893
- RG220626
- RG224242
- RR201844
- RR201844L3
- RR201844L4
- MR222319L3V
- MR222319L4V
- RC212773L3V
- RC212773L4V
- RC213893L3V
- RC213893L4V
- RC220626L1V
- RC220626L2V
- RC220626L3V
- RC220626L4V
- RC224242L3V
- RC224242L4V
- RR201844L3V
- RR201844L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for MLXIPL
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MLXIPL
Cell Line Products
-
Horizon Cell Lines for MLXIPL
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MLXIPL Gene
Localization for MLXIPL Gene
Subcellular locations from UniProtKB/Swiss-Prot for MLXIPL Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| plasma membrane | 2 |
| extracellular | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| endoplasmic reticulum | 2 |
| cytoskeleton | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | ISA | -- |
| GO:0005623 | cell | IEA | -- |
| GO:0005634 | nucleus | IBA,NAS | 10780788 |
| GO:0005654 | nucleoplasm | IDA,TAS | -- |
| GO:0005667 | transcription factor complex | NAS | 11230181 |
Pathways & Interactions for MLXIPL Gene
Pathways by source for MLXIPL Gene
1 BioSystems pathway for MLXIPL Gene
1 PharmGKB pathway for MLXIPL Gene
2 KEGG pathways for MLXIPL Gene
Interacting Proteins for MLXIPL Gene
GPS-Prot Interaction Network for MLXIPL
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | NAS | 10780788 |
| GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
| GO:0008284 | positive regulation of cell proliferation | IMP | 19995986 |
| GO:0009653 | anatomical structure morphogenesis | TAS | 9860302 |
Transcripts for MLXIPL Gene
mRNA/cDNA for MLXIPL Gene
- 5 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000313375 3252 nts (view in UCSC)
- ENST00000345114 3079 nts (view in UCSC)
- ENST00000354613 3215 nts (view in UCSC)
- ENST00000414749 3224 nts (view in UCSC)
- ENST00000429400 3173 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MLXIPL - Select products 50% OFF >
- * MLXIPL CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MLXIPL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MLXIPL
-
Santa Cruz Biotechnology (SCBT) CRISPR for MLXIPL
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MLXIPL
- Browse OriGene Inhibitory RNA Products For MLXIPL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MLXIPL
Clone Products
- Applied Biological Materials (abm): Clones for MLXIPL - Select products 50% OFF >
- * MLXIPL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG222319
- MR222319
- MR222319L3
- MR222319L4
- RC212773
- RC212773L3
- RC212773L4
- RC213893
- RC213893L3
- RC213893L4
- RC220626
- RC220626L1
- RC220626L2
- RC220626L3
- RC220626L4
- RC224242
- RC224242L3
- RC224242L4
- RG212773
- RG213893
- RG220626
- RG224242
- RR201844
- RR201844L3
- RR201844L4
- MR222319L3V
- MR222319L4V
- RC212773L3V
- RC212773L4V
- RC213893L3V
- RC213893L4V
- RC220626L1V
- RC220626L2V
- RC220626L3V
- RC220626L4V
- RC224242L3V
- RC224242L4V
- RR201844L3V
- RR201844L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for MLXIPL
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MLXIPL
| 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
Expression for MLXIPL Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Mononuclear Myocytes Hyoid Arch Muscles
- Mononuclear Myocytes Mandibular Arch Muscles
- Myoblasts Mandibular Arch Muscles
- Myoblasts Hyoid Arch Muscles
-
Kidney (Urinary System)
- Loop of Henle Cells Loop of Henle
- Loop of Henle
- Epithelial Tubule
- Metanephros
-
Epithelial Cells
- Loop of Henle Cells Loop of Henle
- Liver (Hepatobiliary System)
mRNA differential expression in normal tissues according to GTEx for MLXIPL Gene
This gene is overexpressed in Liver (x21.4).
This gene is overexpressed in Urine (59.8) and Plasma (8.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MLXIPL Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MLXIPL
SOURCE GeneReport for Unigene cluster for MLXIPL Gene:
Hs.647055mRNA Expression by UniProt/SwissProt for MLXIPL Gene:
Q9NP71-MLXPL_HUMAN
Tissue specificity:
Expressed in liver, heart, kidney, cerebellum and intestinal tissues.
Evidence on tissue expression from TISSUES for MLXIPL Gene
- Liver(4.8)
- Eye(4.2)
- Muscle(3)
- Kidney(3)
- Nervous system(2.9)
- Intestine(2.9)
- Pancreas(2.9)
- Heart(2.6)
- Blood(2.4)
- Adrenal gland(2.3)
- Thyroid gland(2)
Primer Products
-
OriGene qPCR primer pairs for MLXIPL
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MLXIPL Gene
Orthologs for MLXIPL Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | MLXIPL 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MLXIPL 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MLXIPL 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Mlxipl 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Mlxipl 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | MLXIPL 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | MLXIPL 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | MLXIPL 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | LOC101882187 30 |
|
||
| MLXIPL 31 |
|
OneToOne | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Mio 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | mml-1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.8341 30 |
|
- Species where no ortholog for MLXIPL was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for MLXIPL: view image
Paralogs for MLXIPL Gene
Variants for MLXIPL Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MLXIPL Gene
| SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 707977 | Benign: not provided | 73,597,231(-) | G/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 708718 | Likely Benign: not provided | 73,595,861(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 709123 | Benign: not provided | 73,597,689(-) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 709124 | Benign: not provided | 73,605,715(-) | T/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 711984 | Benign: not provided | 73,606,110(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1023520 | CNV | gain | 25217958 |
| nsv1075032 | CNV | deletion | 25765185 |
| nsv1075969 | CNV | deletion | 25765185 |
| nsv1133659 | CNV | deletion | 24896259 |
| nsv1144179 | CNV | deletion | 24896259 |
| nsv1145142 | CNV | deletion | 24896259 |
| nsv469841 | CNV | loss | 16826518 |
| nsv831028 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
44.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.99;
79.99% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MLXIPL Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MLXIPL Gene
Disorders for MLXIPL Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| williams-beuren syndrome |
|
|
| fatty liver disease |
|
|
| non-alcoholic fatty liver disease |
|
|
| liver disease |
|
|
| hepatocellular adenoma |
|
|
Search MLXIPL in MalaCards
View complete list of genes associated with diseases
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. {ECO:0000269 PubMed:10780788}.
Additional Disease Information for MLXIPL
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for MLXIPL Gene
Publications for MLXIPL Gene
- Replication of association between a common variant near melanocortin-4 receptor gene and obesity-related traits in Asian Sikhs. (PMID: 19680233) Been LF … Sanghera DK (Obesity (Silver Spring, Md.) 2010) 3 23 41
- Genetic variation in genes of the fatty acid synthesis pathway and breast cancer risk. (PMID: 19252981) Campa D … Kaaks R (Breast cancer research and treatment 2009) 3 23 41
- 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 … Jurado LA (European journal of human genetics : EJHG 2000) 3 4 23
- Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. (PMID: 9860302) Meng X … Keating MT (Human genetics 1998) 2 3 4
- 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. (PMID: 22399527) Kristiansson K … Salomaa V (Circulation. Cardiovascular genetics 2012) 3 41
ExternalLinks
Products for MLXIPL Gene
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Sources for MLXIPL Gene
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