Homo sapiens Protein: NFIX | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-31631.7 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | NFIX | ||||||||||||||||||||||
Protein Name | nuclear factor I/X (CCAAT-binding transcription factor) | ||||||||||||||||||||||
Synonyms | MRSHSS; NF1A; SOTOS2; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000353219 | ||||||||||||||||||||||
InnateDB Gene | IDBG-31627 (NFIX) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Recognizes and binds the palindromic sequence 5'- TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication. | ||||||||||||||||||||||
Subcellular Localization | Nucleus. | ||||||||||||||||||||||
Disease Associations | Sotos syndrome 2 (SOTOS2) [MIM:614753]: A form of Sotos syndrome, a childhood overgrowth syndrome characterized by prenatal and postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial morphology. SOTOS2 patients have macrocephaly, long narrow face, high forehead, slender habitus, scoliosis, and unusual behavior characterized especially by anxiety. {ECO:0000269PubMed:22301465}. Note=The disease is caused by mutations affecting the gene represented in this entry.Marshall-Smith syndrome (MRSHSS) [MIM:602535]: A distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. Additional skeletal findings include long and thin tubular bones, broad middle phalanges with relatively narrow distal phalanges, and scoliosis. {ECO:0000269PubMed:20673863}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Widely expressed. {ECO:0000269PubMed:20673863}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000647
CTF transcription factor/nuclear factor 1 IPR003619 MAD homology 1, Dwarfin-type IPR019548 CTF transcription factor/nuclear factor 1, N-terminal IPR020604 CTF transcription factor/nuclear factor 1, DNA-binding domain |
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PFAM |
PF00859
PF03165 PF10524 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00523
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q14938 | ||||||||||||||||||||||
TrEMBL | X6R5U1 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 4784 | ||||||||||||||||||||||
UniGene | Hs.621701 | ||||||||||||||||||||||
RefSeq | XP_005259974 | ||||||||||||||||||||||
HUGO | HGNC:7788 | ||||||||||||||||||||||
OMIM | 164005 | ||||||||||||||||||||||
CCDS | |||||||||||||||||||||||
HPRD | 01234 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC007787 AC022152 AC138474 | ||||||||||||||||||||||
GenPept | |||||||||||||||||||||||