InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LITAF

Summary

InnateDB Protein

IDBP-747725.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LITAF

Protein Name

Synonyms

PIG7; SIMPLE; TP53I7;

Species

Homo sapiens

Ensembl Protein

ENSP00000459533

InnateDB Gene

IDBG-14752 (LITAF)

Protein Structure

UniProt Annotation

Function

Probable role in regulating transcription of specific genes. May regulate through NFKB1 the expression of the CCL2/MCP-1 chemokine. May play a role in tumor necrosis factor alpha (TNF- alpha) gene expression.

Subcellular Localization

Lysosome membrane {ECO:0000269PubMed:11274176}; Peripheral membrane protein {ECO:0000269PubMed:11274176}; Cytoplasmic side {ECO:0000269PubMed:11274176}. Note=Associated with membranes of lysosomes.

Disease Associations

Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098]: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot- Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. {ECO:0000269PubMed:12525712, ECO:0000269PubMed:15776429, ECO:0000269PubMed:15786462}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Defects in LITAF may be involved in extramammary Paget disease (EMPD) carcinogenesis. EMPD is a cancerous disease representing about 8% of all malignant skin cancers; it usually appears in the anogenital area and can be fatal by metastasizing to internal organs when left untreated for a long time. The clinical features are usually those of eczematous eruptions with weeping and crust formation.

Tissue Specificity

Ubiquitously and abundantly expressed. Expressed predominantly in the placenta, peripheral blood leukocytes, lymph nodes and spleen. {ECO:0000269PubMed:10200294, ECO:0000269PubMed:11274176}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	10 [view]
Protein-Protein	9 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004871	signal transducer activity
GO:0005515	protein binding
GO:0050699	WW domain binding

Biological Process

GO:0001817	regulation of cytokine production
GO:0006351	transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0006915	apoptotic process
GO:0007165	signal transduction
GO:0007568	aging
GO:0032496	response to lipopolysaccharide
GO:0042347	negative regulation of NF-kappaB import into nucleus
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0071222	cellular response to lipopolysaccharide

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005765	lysosomal membrane
GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0043231	intracellular membrane-bounded organelle