Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9516
Gene name Gene Name - the full gene name approved by the HGNC.
Lipopolysaccharide induced TNF factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LITAF
Synonyms (NCBI Gene) Gene synonyms aliases
PIG7, SIMPLE, TP53I7
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.13
Summary Summary of gene provided in NCBI Entrez Gene.
Lipopolysaccharide is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha (TNF-alpha) and other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha factor, which is a DNA-binding pr
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs104894519 C>T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs104894520 G>T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs104894521 A>C Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs104894522 G>C Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs121908615 C>T Pathogenic Non coding transcript variant, missense variant, coding sequence variant, 3 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002728 hsa-miR-124-3p Microarray 15685193
MIRT019921 hsa-miR-375 Microarray 20215506
MIRT022102 hsa-miR-128-3p Sequencing 20371350
MIRT022102 hsa-miR-128-3p Microarray 17612493
MIRT002728 hsa-miR-124-3p Microarray 18668037
Transcription factors
Transcription factor Regulation Reference
BCL6 Repression 23795761
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 12655064
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IMP 21217782
GO:0001817 Process Regulation of cytokine production IBA
GO:0003677 Function DNA binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603795 16841 ENSG00000189067
Protein
UniProt ID Q99732
Protein name Lipopolysaccharide-induced tumor necrosis factor-alpha factor (LPS-induced TNF-alpha factor) (Small integral membrane protein of lysosome/late endosome) (p53-induced gene 7 protein)
Protein function Plays a role in endosomal protein trafficking and in targeting proteins for lysosomal degradation (PubMed:23166352). Plays a role in targeting endocytosed EGFR and ERGG3 for lysosomal degradation, and thereby helps down-regulate downstream signa
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10601 zf-LITAF-like 89 159 LITAF-like zinc ribbon domain Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously and abundantly expressed. Expressed predominantly in the placenta, peripheral blood leukocytes, lymph nodes and spleen. {ECO:0000269|PubMed:10200294, ECO:0000269|PubMed:11274176}.
Sequence
MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPS
YYTQPAPIPNNNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCG
SLCLLGCIAGCCFIPFCVDALQDVDHYCPNCRALLGTYK
RL
Sequence length 161
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Lysosome  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease, charcot-marie-tooth disease type 1c rs281865135, rs104894519, rs104894520, rs104894521, rs104894522, rs281865134 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma in any disease N/A N/A GWAS
Cholelithiasis Cholelithiasis N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Diabetes Multiple sclerosis and type 2 diabetes (pleiotropy) N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Psoriatic Associate 27706699
Charcot Marie Tooth Disease Associate 21217782, 27582497
Charcot Marie Tooth disease Type 1C Associate 23319192, 25058650, 27582497, 27927196, 28164329, 32022442, 33059769, 34311727
Charcot Marie Tooth disease Type 2B Associate 28164329
Charcot Marie Tooth disease Type 4A Associate 33059769
Colorectal Neoplasms Associate 37378929
Demyelinating Diseases Associate 33059769
Diabetic Nephropathies Associate 23242724
Esophageal Neoplasms Associate 25499959
Genetic Diseases Inborn Associate 21217782