Free for academic non-profit institutions. Other users need a Commercial license
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]
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.
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 |
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 |
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 |
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: |
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 |
|
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
williams-beuren syndrome |
|
|
fatty liver disease |
|
|
non-alcoholic fatty liver disease |
|
|
liver disease |
|
|
hepatocellular adenoma |
|
|