InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NFIX

Summary

InnateDB Protein

IDBP-234880.6

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

ENSP00000380781

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.

Experimentally validated
Total	17 [view]
Protein-Protein	12 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0006260	DNA replication
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0021549	cerebellum development
GO:0021680	cerebellar Purkinje cell layer development
GO:0021707	cerebellar granule cell differentiation
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048708	astrocyte differentiation

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus

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

PFAM

PF00859
PF03165
PF10524

PRINTS

PIRSF

SMART

SM00523

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q14938