Homo sapiens Protein: MLXIPL
Summary
InnateDB Protein IDBP-377681.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MLXIPL
Protein Name MLX interacting protein-like
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000392636
InnateDB Gene IDBG-20029 (MLXIPL)
Protein Structure
UniProt Annotation
Function Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3' (By similarity). {ECO:0000250}.
Subcellular Localization Nucleus.
Disease Associations 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.
Tissue Specificity Expressed in liver, heart, kidney, cerebellum and intestinal tissues.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0008134 transcription factor binding
GO:0035538 carbohydrate response element binding
GO:0046982 protein heterodimerization activity
GO:0046983 protein dimerization activity
Biological Process
GO:0006112 energy reserve metabolic process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0008284 positive regulation of cell proliferation
GO:0009653 anatomical structure morphogenesis
GO:0010255 glucose mediated signaling pathway
GO:0031325 positive regulation of cellular metabolic process
GO:0033137 negative regulation of peptidyl-serine phosphorylation
GO:0035556 intracellular signal transduction
GO:0042304 regulation of fatty acid biosynthetic process
GO:0042593 glucose homeostasis
GO:0044281 small molecule metabolic process
GO:0045723 positive regulation of fatty acid biosynthetic process
GO:0045821 positive regulation of glycolytic process
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046889 positive regulation of lipid biosynthetic process
GO:0055089 fatty acid homeostasis
GO:0070328 triglyceride homeostasis
GO:0071157 negative regulation of cell cycle arrest
GO:0090324 negative regulation of oxidative phosphorylation
GO:2000505 regulation of energy homeostasis
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
GO:0005829 cytosol
Protein Structure and Domains
PDB ID
InterPro IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
PFAM PF00010
PRINTS
PIRSF
SMART SM00353
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NP71
PhosphoSite PhosphoSite-Q9NP71
TrEMBL
UniProt Splice Variant
Entrez Gene 51085
UniGene Hs.647055
RefSeq
HUGO HGNC:12744
OMIM 605678
CCDS
HPRD 12033
IMGT
EMBL AF056184 AF156603 AF156673 AF245470 AF245471 AF245472 AF245473 AF245474 BC012925 CH471200 FJ515858
GenPept AAD28084 AAF68174 AAF68176 AAH12925 AAK20935 AAK20936 AAK20937 AAK20938 AAK20939 ACS13745 ACS13746 ACS13748 EAW69660 EAW69661 EAW69662