Aliases for MLXIPL Gene
Aliases for MLXIPL Gene
- MLX Interacting Protein Like 2 3 5
- Williams-Beuren Syndrome Chromosomal Region 14 Protein 3 4
- WS Basic-Helix-Loop-Helix Leucine Zipper 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
- WS-BHLH 3 4
- BHLHd14 3 4
- CHREBP 3 4
- MIO 3 4
- 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
- Carbohydrate-Responsive Element-Binding Protein 3
- MLX Interacting Protein-Like 2
- MLX-Interacting Protein-Like 4
- Mlx Interactor 3
- MLX Interactor 4
- MONDOB 3
- 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 Multiple Symmetrical Lipomatosis. Among its related pathways are Metformin Pathway, Pharmacodynamics 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 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
- Monarch Initiative
- Search for MLXIPL at DataMed
- Search for MLXIPL at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MLXIPL Gene
Genomics for MLXIPL Gene
GeneHancer (GH) Regulatory Elements for MLXIPL Gene
Promoters and enhancers for MLXIPL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around MLXIPL on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the MLXIPL gene promoter:
Regulatory Element Products
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)
Genomic View for MLXIPL Gene
Genes around MLXIPL on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q11.23 by Ensembl
- 7q11.23 by Entrez Gene
- 7q11.23 by HGNC
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.
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
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for MLXIPL
- Novus Biologicals Antibodies for MLXIPL
-
Abcam antibodies for MLXIPL
- Invitrogen Antibodies for MLXIPL
- antibodies-online: Search results for 119 available MLXIPL Antibodies ranked by validation data
- Compare Top MLXIPL Antibodies
-
Recommended
- 91 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 10 IF Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 28 WB Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-mouse)
- 1 IF Antibody (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 43 WB Antibodies (anti-mouse)
- GeneTex MLXIPL antibody 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
- Search GeneTex for Proteins for MLXIPL
-
Abcam proteins for MLXIPL
Assay Products
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
- Predicted secreted proteins
- Transcription factors
Protein Domains for MLXIPL Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for MLXIPL Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for 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:0001078 | transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
| GO:0003677 | DNA binding | NAS | 10780788 |
| GO:0003700 | DNA binding transcription factor activity | NAS | 10780788 |
| GO:0008134 | transcription factor binding | IPI | 11230181 |
Phenotypes for MLXIPL Gene
- MGI mutant phenotypes for MLXIPL:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for MLXIPL:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Decreased viability
- shRNA abundance <= 50%
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Increased transferrin (TF) endocytosis
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased free cholesterol
- Synthetic lethal with vaccinia virus (VACV) infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
Animal Models for MLXIPL Gene
- MGI Knock Outs for MLXIPL:
-
- Mlxipl tm1Kuy
Animal Model Products
-
Taconic Biosciences Mouse Models for MLXIPL
- Cyagen custom Knockout/knockin (KOKI) mouse models for MLXIPL
-
-
ViGene Biosciences lentiviral particle packaged cDNA for MLXIPL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MLXIPL gene
- Search ViGene Biosciences for MLXIPL
CRISPR Products
-
OriGene CRISPR knockouts for MLXIPL
- genomics-online: gRNA clones - Search results for 94 available MLXIPL gene related products
- Overview of 94 available MLXIPL gene related products
-
Recommended
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MLXIPL
- GenScript: Design CRISPR guide RNA sequences 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)
miRNA Products
- Search ViGene Biosciences for MLXIPL
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for MLXIPL
- Browse OriGene Inhibitory RNA Products For MLXIPL
- genomics-online: shRNA clones - Search results for 94 available MLXIPL gene related products
- Overview of 94 available MLXIPL gene related products
-
Recommended
-
ViGene Biosciences ready-to-package AAV shRNAs for MLXIPL gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for MLXIPL
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MLXIPL
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 94 available MLXIPL gene related products
- Overview of 94 available MLXIPL gene related products
-
Recommended
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- Overview of 94 available MLXIPL gene related products
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Recommended
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for MLXIPL
-
ViGene Biosciences adenoviral particle packaged cDNA for MLXIPL gene
-
ViGene Biosciences lentiviral particle packaged cDNA for MLXIPL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MLXIPL gene
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 | 5 |
| extracellular | 2 |
| peroxisome | 2 |
| mitochondrion | 1 |
- Nucleus (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | NAS,IDA | 10780788 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005667 | transcription factor complex | NAS | 11230181 |
| GO:0005737 | cytoplasm | ISS | 11230181 |
| GO:0005829 | cytosol | TAS,IDA | -- |
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | NAS | 10780788 |
| GO:0006357 | regulation of transcription by RNA polymerase II | IBA | -- |
| GO:0008284 | positive regulation of cell proliferation | IMP | 19995986 |
Transcripts for MLXIPL Gene
mRNA/cDNA for MLXIPL Gene
- (10) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (108) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for MLXIPL Gene
CRISPR Products
-
OriGene CRISPR knockouts for MLXIPL
- genomics-online: gRNA clones - Search results for 94 available MLXIPL gene related products
- Overview of 94 available MLXIPL gene related products
-
Recommended
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MLXIPL
- GenScript: Design CRISPR guide RNA sequences for MLXIPL
miRNA Products
- Search ViGene Biosciences for MLXIPL
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for MLXIPL
- Browse OriGene Inhibitory RNA Products For MLXIPL
- genomics-online: shRNA clones - Search results for 94 available MLXIPL gene related products
- Overview of 94 available MLXIPL gene related products
-
Recommended
-
ViGene Biosciences ready-to-package AAV shRNAs for MLXIPL gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for MLXIPL
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MLXIPL
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 94 available MLXIPL gene related products
- Overview of 94 available MLXIPL gene related products
-
Recommended
- orf clones - Search results for 94 available MLXIPL gene related products
- Overview of 94 available MLXIPL gene related products
-
Recommended
- Applied Biological Materials Clones for MLXIPL
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
| ExUns: | 17 |
|---|---|
| SP1: | |
| SP2: | |
| SP3: | |
| SP4: | |
| SP5: | |
| SP6: | |
| SP7: | |
| SP8: |
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, PaxDb, MaxQB, and MOPED for MLXIPL Gene
NURSA nuclear receptor signaling pathways regulating expression of MLXIPL Gene:
MLXIPLSOURCE 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(4.7)
- Eye(4)
- Pancreas(2.2)
- Kidney(2.1)
- Muscle(2.1)
Primer Products
-
OriGene qPCR primer pairs for MLXIPL
- genomics-online: primer clones - Search results for 94 available MLXIPL gene related products
- Overview of 94 available MLXIPL gene related products
-
Recommended
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 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | MLXIPL 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | MLXIPL 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Mlxipl 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Mlxipl 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | MLXIPL 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | MLXIPL 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MLXIPL 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | LOC101882187 33 |
|
||
| MLXIPL 34 |
|
OneToOne | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Mio 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | mml-1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.8341 33 |
|
- Species where no ortholog for MLXIPL was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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)
Paralogs for MLXIPL Gene
(1) SIMAP similar genes for MLXIPL Gene using alignment to 7 proteins:
Variants for MLXIPL Gene
| SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs782420994 | benign, not specified | 73,597,413(-) | T/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1000024365 | -- | 73,593,257(-) | C/A | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs1000159353 | -- | 73,616,897(-) | G/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000211145 | -- | 73,617,156(-) | C/T | genic_upstream_transcript_variant, intron_variant | |
| rs1000372467 | -- | 73,611,823(-) | A/T | genic_upstream_transcript_variant, intron_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 |
|
|
| multiple symmetrical lipomatosis |
|
|
| fatty liver disease |
|
|
| body mass index quantitative trait locus 11 |
|
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
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 22 44 58
- 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 22 44 58
- 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 22 58
- 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 58
- Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PMID: 22286219) Kettunen J … Ripatti S (Nature genetics 2012) 3 44 58
Products for MLXIPL Gene
- Browse R&D Systems for Antibodies
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- Browse R&D Systems for biochemical assays
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- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for MLXIPL
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- Origene shrna, sirna, and RNAi products in human, mouse, rat for MLXIPL
- Browse OriGene Inhibitory RNA Products For MLXIPL
- OriGene qPCR primer pairs for MLXIPL
- OriGene CRISPR knockouts for MLXIPL
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For MLXIPL
- GenScript: Next-day shipping of latest version cDNA ORF clones for MLXIPL in any vector
- GenScript Custom Purified and Recombinant Proteins Services for MLXIPL
- GenScript Custom Assay Services for MLXIPL
- GenScript Custom overexpressing Cell Line Services for MLXIPL
- GenScript: Design CRISPR guide RNA sequences for MLXIPL
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for MLXIPL
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for MLXIPL
- Novus Biologicals lysates and proteins for MLXIPL
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for MLXIPL
- Abcam proteins for MLXIPL
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Taconic Biosciences Mouse Models for MLXIPL
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for MLXIPL
- Cyagen custom Knockout/knockin (KOKI) mouse models for MLXIPL
- VectorBuilder custom plasmid, inducible vectors for MLXIPL
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MLXIPL
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 119 available MLXIPL Antibodies ranked by validation data
- Compare Top MLXIPL Antibodies
- Recommended
- 91 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 10 IF Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 43 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IF Antibody (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 28 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- antibodies-online: Search results for available MLXIPL related products ranked by validation data
- antibodies-online: Search results for 3 available MLXIPL Proteins ranked by validation data
- Compare Top MLXIPL Proteins
- GeneTex MLXIPL antibody for MLXIPL
- Search GeneTex for Proteins for MLXIPL
- ViGene Biosciences adenoviral particle packaged cDNA for MLXIPL gene
- ViGene Biosciences lentiviral particle packaged cDNA for MLXIPL gene
- ViGene Biosciences ready-to-package AAV shRNAs for MLXIPL gene
- Search ViGene Biosciences for MLXIPL
- Santa Cruz Biotechnology (SCBT) Antibodies for MLXIPL
- Search Santa Cruz Biotechnology (SCBT) for MLXIPL siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MLXIPL
- Horizon Cell Lines for MLXIPL
- genomics-online: cdna clones - Search results for 94 available MLXIPL gene related products
- Overview of 94 available MLXIPL gene related products
- Recommended
- orf clones - Search results for 94 available MLXIPL gene related products
- Overview of 94 available MLXIPL gene related products
- Recommended
- genomics-online: gRNA clones - Search results for 94 available MLXIPL gene related products
- Overview of 94 available MLXIPL gene related products
- Recommended
- genomics-online: primer clones - Search results for 94 available MLXIPL gene related products
- Overview of 94 available MLXIPL gene related products
- Recommended
- genomics-online: shRNA clones - Search results for 94 available MLXIPL gene related products
- Overview of 94 available MLXIPL gene related products
- Recommended
Sources for MLXIPL Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems