LITAF (lipopolysaccharide induced TNF factor)

2003-11-01  

Identity

HGNC
LOCATION
16p13.13
LOCUSID
ALIAS
PIG7,SIMPLE,TP53I7
FUSION GENES

Other Information

Locus ID:

NCBI: 9516
MIM: 603795
HGNC: 16841
Ensembl: ENSG00000189067

Variants:

dbSNP: 9516
ClinVar: 9516
TCGA: ENSG00000189067
COSMIC: LITAF

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000189067ENST00000339430Q99732
ENSG00000189067ENST00000381810Q99732
ENSG00000189067ENST00000413364Q99732
ENSG00000189067ENST00000570798I3L1I9
ENSG00000189067ENST00000570904Q99732
ENSG00000189067ENST00000571277I3L1R0
ENSG00000189067ENST00000571459I3L2E2
ENSG00000189067ENST00000571627I3L3U8
ENSG00000189067ENST00000571688Q99732
ENSG00000189067ENST00000571976I3L329
ENSG00000189067ENST00000572255I3L1H3
ENSG00000189067ENST00000573332I3L409
ENSG00000189067ENST00000574701I3L1P1
ENSG00000189067ENST00000574703I3L2T6
ENSG00000189067ENST00000574763Q99732
ENSG00000189067ENST00000574848I3L2T1
ENSG00000189067ENST00000575426A0A0G2JLC4
ENSG00000189067ENST00000576036Q99732
ENSG00000189067ENST00000576334I3L133
ENSG00000189067ENST00000620789Q99732
ENSG00000189067ENST00000622633Q99732

Expression (GTEx)

0
50
100
150
200
250
300
350
400

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
193054082009Common variants at ten loci influence QT interval duration in the QTGEN Study.190
218966452011Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways.29
157764292005SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.28
231663522012Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking.28
212177822011LITAF and TNFSF15, two downstream targets of AMPK, exert inhibitory effects on tumor growth.26
196921682010Genetic susceptibility to distinct bladder cancer subphenotypes.25
235765462013Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes.25
265732282015LPS-induced TNF-α factor mediates pro-inflammatory and pro-fibrogenic pattern in non-alcoholic fatty liver disease.23
167875132006SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.22
151227122004SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.18

Citation

Dessen P

LITAF (lipopolysaccharide induced TNF factor)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/41161/litaf