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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 transcript... See more...
Aliases for LITAF Gene
Aliases for LITAF Gene
External Ids for LITAF Gene
- HGNC: 16841
- Entrez Gene: 9516
- Ensembl: ENSG00000189067
- OMIM: 603795
- UniProtKB: Q99732
Previous GeneCards Identifiers for LITAF Gene
- GC16M011795
- GC16M011608
- GC16M011549
- GC16M011641
Summaries 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 Charcot-Marie-Tooth Disease. 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 Summary 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).
Additional gene information for LITAF Gene
- HGNC(16841)
- Entrez Gene(9516)
- Ensembl(ENSG00000189067)
- OMIM(603795)
- UniProtKB(Q99732)
- Open Targets Platform(ENSG00000189067)
- Monarch Initiative
- Search for LITAF at DataMed
- Search for LITAF at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LITAF Gene
Genomics for LITAF Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for LITAF Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LITAF
- 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:
-
- 16p13.13 by HGNC
- 16p13.13 by Entrez Gene
- 16p13.13 by Ensembl
LITAF Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
- Miscellaneous:
-
- [Isoform 2]: May be due to a frameshift that creates an unconventional splicing site. Data inferred from this isoform must be interpreted with caution.
Protein Expression for LITAF Gene
Post-translational modifications for LITAF Gene
- Phosphorylated on tyrosine residues in response to EGF.
-
Ubiquitination at Lys159
- NX_Q99732 (NX_Q99732-1)
- Modification sites at PhosphoSitePlus
Other Protein References for LITAF Gene
- ENSEMBL proteins:
-
- ENSP00000459533
- ENSP00000397958
- ENSP00000340118
- ENSP00000459138
- ENSP00000459603
- ENSP00000459094
- ENSP00000460873
- ENSP00000458836
- ENSP00000461667
- ENSP00000461813
- ENSP00000460743
- ENSP00000458871
- ENSP00000458981
- ENSP00000460133
- ENSP00000459913
- ENSP00000459898
- ENSP00000459026
- ENSP00000458538
- ENSP00000481589
- ENSP00000483114
- ENSP00000371231
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences LITAF Antibody (LS-B7357) and LITAF Antibody (LS-B8921)
- G Biosciences Immunotag™ LITAF Antibody
-
Custom Antibody ServicesOriGene Antibodies for LITAF
- Novus Biologicals Antibodies for LITAF
-
Abcam antibodies for LITAF
- Invitrogen Antibodies for LITAF (AFLGC-LITAF)
-
Santa Cruz Biotechnology (SCBT) Antibodies for LITAF
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for LITAF
- Origene Custom Protein Services for LITAF
- ProSpec Recombinant Proteins for LITAF
-
Abcam proteins for LITAF
Assay Products
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
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
Q99732UniProtKB/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.
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
| 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 | IMP | 21217782 |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 15064722 |
| GO:0008270 | zinc ion binding | IDA | 27582497 |
Phenotypes for LITAF Gene
- MGI mutant phenotypes for LITAF:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for LITAF:
Animal Models for LITAF Gene
- MGI Knock Outs for LITAF:
-
- Litaf Litaf<tm1.1Ics>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for LITAF - Select products 50% OFF >
- * LITAF CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for LITAF
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LITAF
-
Santa Cruz Biotechnology (SCBT) CRISPR for LITAF
miRNA for LITAF Gene
- miRTarBase miRNAs that target LITAF
-
- hsa-miR-124-3p (MIRT002728)
- mmu-miR-124-3p (MIRT015926)
- hsa-miR-375 (MIRT019921)
- hsa-miR-128-3p (MIRT022102)
- hsa-miR-7-5p (MIRT025880)
- hsa-miR-27a-3p (MIRT028706)
- hsa-miR-320a (MIRT044539)
- hsa-miR-8083 (MIRT141894)
- hsa-miR-936 (MIRT498846)
- hsa-miR-7151-5p (MIRT498847)
- hsa-miR-449c-5p (MIRT498848)
- hsa-miR-34b-5p (MIRT498849)
- hsa-miR-2682-5p (MIRT498850)
- hsa-miR-4484 (MIRT498851)
- hsa-miR-3714 (MIRT498852)
- hsa-miR-6768-3p (MIRT498853)
- hsa-miR-548an (MIRT498854)
- hsa-miR-3978 (MIRT498855)
- hsa-miR-127-5p (MIRT498856)
- hsa-miR-1255b-5p (MIRT498857)
- hsa-miR-1255a (MIRT498858)
- hsa-miR-6744-5p (MIRT498859)
- hsa-miR-1287-5p (MIRT498860)
- hsa-miR-6134 (MIRT498861)
- hsa-miR-617 (MIRT498862)
- hsa-miR-6806-3p (MIRT498863)
- hsa-miR-3928-5p (MIRT498864)
- hsa-miR-4712-3p (MIRT498865)
- hsa-miR-320e (MIRT498866)
- hsa-miR-195-5p (MIRT727295)
- hsa-miR-16-5p (MIRT727296)
- hsa-miR-15a-5p (MIRT727297)
- hsa-miR-15b-5p (MIRT727298)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LITAF
- Browse OriGene Inhibitory RNA Products For LITAF
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LITAF
Clone Products
- Applied Biological Materials (abm): Clones for LITAF - Select products 50% OFF >
- * LITAF as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG201259
- MR201259
- MR201259L3
- MR201259L4
- RC203938
- RC203938L3
- RC203938L4
- RC226810
- RC226810L3
- RC226810L4
- RC227032
- RC227032L3
- RC227032L4
- RG203938
- RG226810
- RG227032
- RR202086
- RR202086L3
- RR202086L4
- MR201259L3V
- MR201259L4V
- RC203938L3V
- RC203938L4V
- RC226810L3V
- RC226810L4V
- RC227032L3V
- RC227032L4V
- RR202086L3V
- RR202086L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for LITAF
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LITAF
Cell Line Products
-
Horizon Cell Lines for LITAF
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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| endosome | 5 |
| lysosome | 5 |
| golgi apparatus | 5 |
| cytosol | 4 |
| extracellular | 3 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
- Cytosol (3)
- Nucleoplasm (3)
- Vesicles (3)
| 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 | -- |
Pathways & Interactions for LITAF Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | NF-kappaB Signaling | ||
| 2 | Lysosome |
-
|
|
Pathways by source for LITAF Gene
1 KEGG pathway for LITAF Gene
1 Cell Signaling Technology pathway for LITAF Gene
Interacting Proteins for LITAF Gene
Selected Interacting proteins:
Q99732-LITAF_HUMAN
ENSP00000459533
for LITAF Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for LITAF
| 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 |
Transcripts for LITAF Gene
mRNA/cDNA for LITAF Gene
- 3 REFSEQ mRNAs :
- 24 NCBI additional mRNA sequence :
- 21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000339430 2356 nts (view in UCSC)
- ENST00000381810 1527 nts (view in UCSC)
- ENST00000413364 2292 nts (view in UCSC)
- ENST00000570798 593 nts (view in UCSC)
- ENST00000570904 1118 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for LITAF - Select products 50% OFF >
- * LITAF CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for LITAF
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LITAF
-
Santa Cruz Biotechnology (SCBT) CRISPR for LITAF
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LITAF
- Browse OriGene Inhibitory RNA Products For LITAF
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LITAF
Clone Products
- Applied Biological Materials (abm): Clones for LITAF - Select products 50% OFF >
- * LITAF as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG201259
- MR201259
- MR201259L3
- MR201259L4
- RC203938
- RC203938L3
- RC203938L4
- RC226810
- RC226810L3
- RC226810L4
- RC227032
- RC227032L3
- RC227032L4
- RG203938
- RG226810
- RG227032
- RR202086
- RR202086L3
- RR202086L4
- MR201259L3V
- MR201259L4V
- RC203938L3V
- RC203938L4V
- RC226810L3V
- RC226810L4V
- RC227032L3V
- RC227032L4V
- RR202086L3V
- RR202086L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for LITAF
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LITAF
| 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
Expression for LITAF Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Mesoderm (Gastrulation Derivatives)
- Neural Crest (Gastrulation Derivatives)
mRNA differential expression in normal tissues according to GTEx for LITAF Gene
This gene is overexpressed in Whole Blood (x16.5).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LITAF
SOURCE GeneReport for Unigene cluster for LITAF Gene:
Hs.459940mRNA 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
- Nervous system(5)
- Blood(4.9)
- Skin(4.8)
- Kidney(4.7)
- Pancreas(4.4)
- Lung(4.4)
- Intestine(3.8)
- Spleen(3.8)
- Liver(2.9)
- Lymph node(2.6)
- Heart(2.6)
- Muscle(2.5)
- Bone marrow(2.3)
- Stomach(2.2)
- Eye(2.1)
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
Primer Products
-
OriGene qPCR primer pairs for LITAF
-
OriGene qPCR primer pairs and template standards for LITAF
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | LITAF 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | LITAF 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | LITAF 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Litaf 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Litaf 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | LITAF 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | LITAF 30 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | litaf 30 |
|
||
| MGC75991 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.21754 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | litaf 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG32280 31 |
|
ManyToMany | |
| CG13559 31 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | F36G3.3 31 |
|
OneToMany |
- Species where no ortholog for LITAF was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
Variants for LITAF Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LITAF Gene
| SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 637891 | Uncertain Significance: not specified | 11,553,688(-) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 637892 | Uncertain Significance: Charcot-Marie-Tooth disease, type 1C; Charcot-Marie-Tooth disease; not specified | 11,549,646(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
| 639258 | Conflicting Interpretations: Charcot-Marie-Tooth disease, type 1C; Charcot-Marie-Tooth disease; not provided | 11,553,579(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 640744 | Uncertain Significance: Charcot-Marie-Tooth disease, type 1C; Charcot-Marie-Tooth disease | 11,549,711(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT | |
| 641266 | Uncertain Significance: Charcot-Marie-Tooth disease, type 1C; Charcot-Marie-Tooth disease | 11,553,642(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LITAF Gene
Disorders for LITAF Gene
(40) MalaCards diseases for LITAF Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| charcot-marie-tooth disease, demyelinating, type 1c |
|
|
| charcot-marie-tooth disease |
|
|
| charcot-marie-tooth disease/hereditary motor and sensory neuropathy |
|
|
| tooth disease |
|
|
| charcot-marie-tooth disease and deafness |
|
|
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
- Open Targets Platform
No data available for Genatlas for LITAF Gene
Publications for LITAF Gene
- 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
- 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 41
- 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
- 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
- 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
ExternalLinks
Products for LITAF Gene
- Custom Antibody ServicesOriGene Antibodies for LITAF
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- Browse OriGene Inhibitory RNA Products For LITAF
- OriGene qPCR primer pairs for LITAF
- OriGene qPCR primer pairs and template standards for LITAF
- OriGene CRISPR knockouts for LITAF
- MG201259
- MR201259
- MR201259L3
- MR201259L4
- RC203938
- RC203938L3
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- RC226810
- RC226810L3
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- RC227032L3
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- RG203938
- RG226810
- RG227032
- RR202086
- RR202086L3
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- MR201259L4V
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- RC227032L3V
- RC227032L4V
- RR202086L3V
- RR202086L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Sino Biological Human cDNA Clone for LITAF
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for LITAF
- Novus Biologicals proteins and lysates for LITAF
- Browse Antibodies
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- VectorBuilder Custom and pre-made DNA vectors for LITAF (ie. gene expression, shRNA knockdown, CRISPR)
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- VectorBuilder Virus packaging for LITAF CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for LITAF
- antibodies-online: Show 20 available LITAF Antibodies ranked by validation data
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- antibodies-online: Show 9 available LITAF Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for LITAF
- Search Santa Cruz Biotechnology (SCBT) for LITAF siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for LITAF
- Horizon Cell Lines for LITAF
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LITAF
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LITAF
- Search GeneCopoeia for miRNA 3'UTR Target clone products for LITAF
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LITAF
Sources for LITAF Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB