Gene Gene information from NCBI Gene database.
Entrez ID 9516
Gene name Lipopolysaccharide induced TNF factor
Gene symbol LITAF
Synonyms (NCBI Gene)
PIG7SIMPLETP53I7
Chromosome 16
Chromosome location 16p13.13
Summary 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.
11
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.
1003
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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
BCL6 Repression 23795761
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603795 16841 ENSG00000189067
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
36
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Charcot-Marie-Tooth disease Pathogenic rs104894519, rs281865134, rs281865135 RCV001173620
RCV000789997
RCV000789996
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 1C Pathogenic; Likely pathogenic rs104894519, rs104894520, rs104894521, rs104894522, rs281865135, rs281865134 RCV000006429
RCV000006430
RCV000006431
RCV000006432
RCV003228692
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tip-toe gait Likely pathogenic rs200709345 RCV002052443
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 18674816
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 27706699 Associate
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 16960149, 23795761, 27764808
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 28711743
★☆☆☆☆
Found in Text Mining only
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease BEFREE 12525712, 15776429, 15786462, 16118794, 19691535, 20724950, 21217782, 21896645, 22276139, 24880540, 25058650, 25245565, 25963657, 27862672, 28211240
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease LHGDN 15776429
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth Disease Orphanet
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease, Type 1C Charcot-Marie-Tooth Disease UNIPROT_DG 12525712, 15776429, 15786462, 16118794, 21896645, 23166352, 24604904
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 1C Charcot-Marie-Tooth Disease CLINVAR_DG 12525712, 15122712, 15776429, 23576546, 25058650
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 1C Charcot-Marie-Tooth Disease BEFREE 15122712, 16118794, 21896645, 23359569, 25058650, 25245565, 25963657, 27927196, 28164329
★★☆☆☆
Found in Text Mining + Unknown/Other Associations