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Aliases for LITAF Gene

Aliases for LITAF Gene

  • Lipopolysaccharide Induced TNF Factor 2 3 5
  • Lipopolysaccharide-Induced Tumor Necrosis Factor-Alpha Factor 3 4
  • Small Integral Membrane Protein Of Lysosome/Late Endosome 3 4
  • LPS-Induced TNF-Alpha Factor 3 4
  • P53-Induced Gene 7 Protein 3 4
  • SIMPLE 3 4
  • PIG7 3 4
  • Lipopolysaccharide-Induced TNF-Alpha Factor 3
  • Tumor Protein P53 Inducible Protein 7 3
  • Lipopolysaccharide-Induced TNF Factor 2
  • TP53I7 3

External Ids for LITAF Gene

Previous GeneCards Identifiers for LITAF Gene

  • GC16M011795
  • GC16M011608
  • GC16M011549

Summaries for LITAF Gene

Entrez Gene Summary for LITAF 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 protein and can mediate the TNF-alpha expression by direct binding to the promoter region of the TNF-alpha gene. The transcription of this gene is induced by tumor suppressor p53 and has been implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C (CMT1C) and may be involved in the carcinogenesis of extramammary Paget's disease (EMPD). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014]

GeneCards Summary for LITAF Gene

LITAF (Lipopolysaccharide Induced TNF Factor) is a Protein Coding gene. Diseases associated with LITAF include Charcot-Marie-Tooth Disease, Demyelinating, Type 1C and Peroneal Neuropathy. Among its related pathways are Lysosome and NF-kappaB Signaling. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and WW domain binding. An important paralog of this gene is CDIP1.

UniProtKB/Swiss-Prot for LITAF Gene

  • 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 downregulate downstream signaling cascades (PubMed:23166352). Helps recruit the ESCRT complex components TSG101, HGS and STAM to cytoplasmic membranes (PubMed:23166352). Probably plays a role in regulating protein degradation via its interaction with NEDD4 (PubMed:15776429). May also contribute to the regulation of gene expression in the nucleus (PubMed:10200294, PubMed:15793005). Binds DNA (in vitro) and may play a synergistic role with STAT6 in the nucleus in regulating the expression of various cytokines (PubMed:15793005). May regulate the expression of numerous cytokines, such as TNF, CCL2, CCL5, CXCL1, IL1A and IL10 (PubMed:10200294, PubMed:15793005).

Gene Wiki entry for LITAF Gene

Additional gene information for LITAF Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LITAF Gene

Genomics for LITAF Gene

GeneHancer (GH) Regulatory Elements for LITAF Gene

Promoters and enhancers for LITAF Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J011580 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 646.7 +52.0 52038 7.7 SP1 ZFX ELF3 MNT NKRF POLR2A ZNF121 CEBPG ZNF687 SP7 LITAF TVP23A TXNDC11 SNN ZC3H7A SNX29 SOCS1 LOC400499
GH16J011635 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 600.7 +0.2 181 1.7 SP1 POLR2A CREB1 REST E4F1 KLF4 USF1 MNT ZNF217 ELF1 LITAF LOC400499 HNRNPCP4 ENSG00000263307 ENSG00000261560 SNN
GH16J011611 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 68.4 +22.2 22158 4.8 ZNF652 SP1 CC2D1A ZFX ELF3 ZKSCAN8 MNT CBFA2T2 NKRF MLLT1 LITAF ENSG00000261560 ENSG00000263307 TXNDC11 HNRNPCP4 COX6CP1 SOCS1 ENSG00000261216 ZC3H7A SNN
GH16J011639 Promoter/Enhancer 2.3 VISTA FANTOM5 Ensembl ENCODE dbSUPER 43.1 -4.3 -4277 3.3 MTA3 ZFX ELF3 CTCF CEBPG ZSCAN21 NCOA3 IKZF1 BACH1 MCM2 ENSG00000263307 HNRNPCP4 LITAF ENSG00000261560 COX6CP1 ZC3H7A ENSG00000261216 TXNDC11 NPIPB2 SOCS1
GH16J011595 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 49.2 +39.3 39327 4 ZNF148 AHR FOSL2 CREB1 PKNOX1 ZBTB8A ZIC2 GATAD2A RCOR2 SOX13 LITAF SNN TXNDC11 SOCS1 ZC3H7A SNX29 LOC400499
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LITAF on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LITAF gene promoter:
  • AML1a
  • RORalpha1
  • STAT3

Genomic Locations for LITAF Gene

Genomic Locations for LITAF Gene
chr16:11,547,722-11,636,381
(GRCh38/hg38)
Size:
88,660 bases
Orientation:
Minus strand
chr16:11,641,578-11,730,237
(GRCh37/hg19)
Size:
88,660 bases
Orientation:
Minus strand

Genomic View for LITAF Gene

Genes around LITAF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LITAF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LITAF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LITAF Gene

Proteins for LITAF Gene

  • Protein details for LITAF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99732-LITAF_HUMAN
    Recommended name:
    Lipopolysaccharide-induced tumor necrosis factor-alpha factor
    Protein Accession:
    Q99732
    Secondary Accessions:
    • D3DUG1
    • G5E9K0
    • Q05DW0
    • Q9C0L6

    Protein attributes for LITAF Gene

    Size:
    161 amino acids
    Molecular mass:
    17107 Da
    Quaternary structure:
    • Monomer (PubMed:27927196). Interacts with NEDD4 (PubMed:16118794, PubMed:27927196). Interacts (via PSAP motif) with TSG101, a component of the ESCRT-I complex (endosomal sorting complex required for transport I) (PubMed:16118794). Interacts with WWOX (PubMed:15064722). Interacts with STAM, a component of the ESCRT-0 complex; the interaction is direct (PubMed:23166352). Identified in a complex with STAM and HGS; within this complex, interacts directly with STAM, but not with HGS (PubMed:23166352). Interacts with STAT6 (PubMed:15793005).

    Alternative splice isoforms for LITAF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LITAF Gene

Post-translational modifications for LITAF Gene

No data available for DME Specific Peptides for LITAF Gene

Domains & Families for LITAF Gene

Gene Families for LITAF Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for LITAF Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LITAF Gene

GenScript: Design optimal peptide antigens:
  • p53-induced gene 7 protein (LITAF_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99732

UniProtKB/Swiss-Prot:

LITAF_HUMAN :
  • The PPxY motif mediates interaction with WWOX and NEDD4.
  • Belongs to the CDIP1/LITAF family.
Domain:
  • The PPxY motif mediates interaction with WWOX and NEDD4.
  • The LITAF domain is stabilized by a bound zinc ion (PubMed:27927196, PubMed:27582497). The LITAF domain contains an amphiphatic helix that mediates interaction with lipid membranes (PubMed:23166352, PubMed:27927196, PubMed:27582497). It interacts specifically with phosphatidylethanolamine lipid headgroups, but not with phosphoglycerol, phosphocholine, phosphoserine or inositolhexakisphosphate (PubMed:27927196).
Family:
  • Belongs to the CDIP1/LITAF family.
genes like me logo Genes that share domains with LITAF: view

Function for LITAF Gene

Molecular function for LITAF Gene

UniProtKB/Swiss-Prot 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 downregulate downstream signaling cascades (PubMed:23166352). Helps recruit the ESCRT complex components TSG101, HGS and STAM to cytoplasmic membranes (PubMed:23166352). Probably plays a role in regulating protein degradation via its interaction with NEDD4 (PubMed:15776429). May also contribute to the regulation of gene expression in the nucleus (PubMed:10200294, PubMed:15793005). Binds DNA (in vitro) and may play a synergistic role with STAT6 in the nucleus in regulating the expression of various cytokines (PubMed:15793005). May regulate the expression of numerous cytokines, such as TNF, CCL2, CCL5, CXCL1, IL1A and IL10 (PubMed:10200294, PubMed:15793005).
UniProtKB/Swiss-Prot Induction:
Up-regulated by bacterial lipopolysaccharide (LPS) (at protein level) (PubMed:15793005). By bacterial lipopolysaccharide (LPS) and by p53/TP53 (PubMed:9305847, PubMed:10200294). In monocytes by the Bacillus Calmette-Guerin (BCG) (PubMed:11274176).

Phenotypes From GWAS Catalog for LITAF Gene

Gene Ontology (GO) - Molecular Function for LITAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 12655064
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IC --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 15064722
GO:0008270 zinc ion binding IDA 27582497
genes like me logo Genes that share ontologies with LITAF: view
genes like me logo Genes that share phenotypes with LITAF: view

Human Phenotype Ontology for LITAF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LITAF Gene

MGI Knock Outs for LITAF:

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for LITAF - Now 50% OFF >
  • * LITAF as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * LITAF tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LITAF Gene

Localization for LITAF Gene

Subcellular locations from UniProtKB/Swiss-Prot for LITAF Gene

Cytoplasm. Nucleus. Lysosome membrane; Peripheral membrane protein; Cytoplasmic side. Early endosome membrane. Late endosome membrane. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Golgi apparatus membrane. Note=Associated with membranes of lysosomes, early and late endosomes (PubMed:11274176, PubMed:27927196, PubMed:27582497). Can translocate from the cytoplasm into the nucleus (PubMed:15793005). Detected at Schmidt-Lanterman incisures and in nodal regions of myelinating Schwann cells (By similarity). {ECO:0000250 UniProtKB:Q9JLJ0, ECO:0000269 PubMed:11274176, ECO:0000269 PubMed:15793005, ECO:0000269 PubMed:27582497, ECO:0000269 PubMed:27927196}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LITAF gene
Compartment Confidence
plasma membrane 5
endosome 5
lysosome 5
golgi apparatus 5
nucleus 4
cytosol 4
extracellular 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LITAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IEA --
genes like me logo Genes that share ontologies with LITAF: view

Pathways & Interactions for LITAF Gene

PathCards logo

SuperPathways for LITAF Gene

SuperPathway Contained pathways
1 NF-kappaB Signaling
2 Lysosome
genes like me logo Genes that share pathways with LITAF: view

Pathways by source for LITAF Gene

1 KEGG pathway for LITAF Gene
1 Cell Signaling Technology pathway for LITAF Gene

SIGNOR curated interactions for LITAF Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for LITAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001817 regulation of cytokine production IEA --
GO:0006357 regulation of transcription by RNA polymerase II TAS 10200294
GO:0007568 aging IEA --
GO:0032496 response to lipopolysaccharide IEA --
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling HMP 12761501
genes like me logo Genes that share ontologies with LITAF: view

Drugs & Compounds for LITAF Gene

(1) Additional Compounds for LITAF Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LITAF: view

Transcripts for LITAF Gene

mRNA/cDNA for LITAF Gene

Unigene Clusters for LITAF Gene

Lipopolysaccharide-induced TNF factor:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for LITAF - Now 50% OFF >
  • * LITAF as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * LITAF tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for LITAF Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13a · 13b · 13c · 13d · 13e · 13f · 13g ·
SP1: - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - - - - - - - - - -
SP5: - - - - - - - - - - -
SP6: - - - - - - - - - - - - -
SP7: - - - - - - - - - -
SP8: - - - - - - - - - - -
SP9: - - - - - - - - -
SP10: - - - - - - - - -
SP11: - -
SP12: - - - -
SP13: - - - - - - -
SP14: - - - -
SP15: - - - - - -

ExUns: 13h · 13i
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for LITAF Gene

GeneLoc Exon Structure for
LITAF
ECgene alternative splicing isoforms for
LITAF

Expression for LITAF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LITAF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LITAF Gene

This gene is overexpressed in Whole Blood (x16.5).

Protein differential expression in normal tissues from HIPED for LITAF Gene

This gene is overexpressed in Oral epithelium (32.0), Colon (6.8), and Pancreas (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LITAF Gene



NURSA nuclear receptor signaling pathways regulating expression of LITAF Gene:

LITAF

SOURCE GeneReport for Unigene cluster for LITAF Gene:

Hs.459940

mRNA Expression by UniProt/SwissProt for LITAF Gene:

Q99732-LITAF_HUMAN
Tissue specificity: Ubiquitously and abundantly expressed. Expressed predominantly in the placenta, peripheral blood leukocytes, lymph nodes and spleen.

Evidence on tissue expression from TISSUES for LITAF Gene

  • Blood(4.9)
  • Nervous system(4.9)
  • Kidney(4.7)
  • Skin(4.7)
  • Pancreas(4.4)
  • Lung(4.2)
  • Spleen(3.7)
  • Intestine(3.6)
  • Liver(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LITAF Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • head
Limb:
  • arm
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with LITAF: view

No data available for Protein tissue co-expression partners for LITAF Gene

Orthologs for LITAF Gene

This gene was present in the common ancestor of animals.

Orthologs for LITAF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LITAF 35 34
  • 99.17 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LITAF 35 34
  • 86.13 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LITAF 35 34
  • 86.13 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Litaf 34
  • 81.37 (n)
mouse
(Mus musculus)
Mammalia Litaf 17 35 34
  • 80.95 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 77 (a)
OneToMany
-- 35
  • 70 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia LITAF 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves LITAF 35 34
  • 67.68 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia litaf 34
  • 63.72 (n)
MGC75991 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.21754 34
zebrafish
(Danio rerio)
Actinopterygii litaf 35 34
  • 55.56 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG32280 35
  • 33 (a)
ManyToMany
CG13559 35
  • 21 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F36G3.3 35
  • 24 (a)
OneToMany
Species where no ortholog for LITAF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LITAF Gene

ENSEMBL:
Gene Tree for LITAF (if available)
TreeFam:
Gene Tree for LITAF (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LITAF: view image

Paralogs for LITAF Gene

Paralogs for LITAF Gene

genes like me logo Genes that share paralogs with LITAF: view

Variants for LITAF Gene

Sequence variations from dbSNP and Humsavar for LITAF Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs104894519 pathogenic, Charcot-Marie-Tooth disease, type 1C, not provided, Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098] 11,553,576(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs104894520 pathogenic, Charcot-Marie-Tooth disease, type 1C, Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098] 11,553,566(-) G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs104894521 pathogenic, Charcot-Marie-Tooth disease, type 1C, Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098] 11,553,564(-) A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs104894522 pathogenic, Charcot-Marie-Tooth disease, type 1C, Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098] 11,553,546(-) G/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs117082330 likely-benign, Charcot-Marie-Tooth disease, type I 11,548,926(-) C/A/G 3_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for LITAF Gene

Variant ID Type Subtype PubMed ID
dgv2729n100 CNV gain 25217958
esv3553118 CNV deletion 23714750
esv3582010 CNV loss 25503493
esv3637930 CNV loss 21293372
esv991827 CNV deletion 20482838
nsv1160341 CNV deletion 26073780
nsv457409 CNV gain 19166990
nsv524676 CNV loss 19592680
nsv571456 CNV gain 21841781
nsv952921 CNV deletion 24416366

Variation tolerance for LITAF Gene

Residual Variation Intolerance Score: 53.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.74; 15.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LITAF Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LITAF
Human Gene Mutation Database (HGMD)
LITAF

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LITAF Gene

Disorders for LITAF Gene

MalaCards: The human disease database

(12) MalaCards diseases for LITAF Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, demyelinating, type 1c
  • cmt1c
peroneal neuropathy
  • peroneal neuropathies
charcot-marie-tooth disease
  • peroneal muscular atrophy
tooth disease
  • tooth disorders
charcot-marie-tooth disease and deafness
  • hmsn1
- elite association - COSMIC cancer census association via MalaCards
Search LITAF in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LITAF_HUMAN
  • 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:0000269 PubMed:12525712, ECO:0000269 PubMed:15776429, ECO:0000269 PubMed:15786462, ECO:0000269 PubMed:16118794, ECO:0000269 PubMed:21896645, ECO:0000269 PubMed:23166352, ECO:0000269 PubMed:24604904}. 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. {ECO:0000269 PubMed:15197774}.

Additional Disease Information for LITAF

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LITAF: view

No data available for Genatlas for LITAF Gene

Publications for LITAF Gene

  1. A novel lipopolysaccharide-induced transcription factor regulating tumor necrosis factor alpha gene expression: molecular cloning, sequencing, characterization, and chromosomal assignment. (PMID: 10200294) Myokai F … Amar S (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 23 58
  2. Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients. (PMID: 16912585) Song S … Zhong N (Genetics in medicine : official journal of the American College of Medical Genetics 2006) 3 23 45 58
  3. LPS induces the interaction of a transcription factor, LPS-induced TNF-alpha factor, and STAT6(B) with effects on multiple cytokines. (PMID: 15793005) Tang X … Amar S (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 23 58
  4. SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease. (PMID: 16118794) Shirk AJ … Bennett CL (Journal of neuroscience research 2005) 3 4 23 58
  5. SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. (PMID: 15776429) Saifi GM … Lupski JR (Human mutation 2005) 3 4 23 58

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