InnateDB Protein
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IDBP-750389.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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LITAF
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Protein Name
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Synonyms
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PIG7; SIMPLE; TP53I7;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000461813
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InnateDB Gene
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IDBG-14752 (LITAF)
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Protein Structure
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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.
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Subcellular Localization |
Lysosome membrane {ECO:0000269PubMed:11274176}; Peripheral membrane protein {ECO:0000269PubMed:11274176}; Cytoplasmic side {ECO:0000269PubMed:11274176}. Note=Associated with membranes of lysosomes.
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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.
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Tissue Specificity |
Ubiquitously and abundantly expressed. Expressed predominantly in the placenta, peripheral blood leukocytes, lymph nodes and spleen. {ECO:0000269PubMed:10200294, ECO:0000269PubMed:11274176}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
9
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR006629
LPS-induced tumor necrosis factor alpha factor
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PFAM |
PF10601
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PRINTS |
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PIRSF |
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SMART |
SM00714
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TIGRFAMs |
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Modification |
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SwissProt |
Q99732
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PhosphoSite |
PhosphoSite-Q99732
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TrEMBL |
I3L3U8
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UniProt Splice Variant |
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Entrez Gene |
9516
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UniGene |
Hs.561271
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RefSeq |
XP_006721046
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HUGO |
HGNC:16841
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OMIM |
603795
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CCDS |
CCDS32386
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HPRD |
10354
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IMGT |
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EMBL |
AB034747
AC007616
AC099489
AF010312
AK095955
BC000053
BC008309
BC016491
BC039840
BC046154
BC096063
BC096065
BC096066
BC101401
BC101402
BC101969
BX537543
CH471112
U77396
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GenPept |
AAB36550
AAC39530
AAH00053
AAH08309
AAH16491
AAH39840
AAH46154
AAH96063
AAH96065
AAH96066
AAI01402
AAI01403
AAI01970
BAB32547
CAD97778
EAW85150
EAW85151
EAW85152
EAW85153
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