ENSG00000189067


Homo sapiens

Features
Gene ID: ENSG00000189067
  
Biological name :LITAF
  
Synonyms : lipopolysaccharide induced TNF factor / LITAF / Q99732
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: p13.13
Gene start: 11547722
Gene end: 11636381
  
Corresponding Affymetrix probe sets: 1555454_at (Human Genome U133 Plus 2.0 Array)   200704_at (Human Genome U133 Plus 2.0 Array)   200706_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000481589
Ensembl peptide - ENSP00000461813
Ensembl peptide - ENSP00000483114
Ensembl peptide - ENSP00000340118
Ensembl peptide - ENSP00000371231
Ensembl peptide - ENSP00000397958
Ensembl peptide - ENSP00000458538
Ensembl peptide - ENSP00000458836
Ensembl peptide - ENSP00000458871
Ensembl peptide - ENSP00000458981
Ensembl peptide - ENSP00000459026
Ensembl peptide - ENSP00000459094
Ensembl peptide - ENSP00000459138
Ensembl peptide - ENSP00000459533
Ensembl peptide - ENSP00000459603
Ensembl peptide - ENSP00000459898
Ensembl peptide - ENSP00000459913
Ensembl peptide - ENSP00000460133
Ensembl peptide - ENSP00000460743
Ensembl peptide - ENSP00000460873
Ensembl peptide - ENSP00000461667
NCBI entrez gene - 9516     See in Manteia.
OMIM - 603795
RefSeq - NM_001136472
RefSeq - NM_001136473
RefSeq - NM_004862
RefSeq - XM_006720982
RefSeq - XM_006720983
RefSeq - XM_006720984
RefSeq - XM_006720985
RefSeq - XM_011522754
RefSeq - XM_017023896
RefSeq Peptide - NP_001129945
RefSeq Peptide - NP_004853
RefSeq Peptide - NP_001129944
swissprot - A0A0G2JLC4
swissprot - Q99732
swissprot - I3L133
swissprot - I3L1H3
swissprot - I3L1I9
swissprot - I3L1P1
swissprot - I3L1R0
swissprot - I3L2E2
swissprot - I3L2T1
swissprot - I3L329
swissprot - I3L2T6
swissprot - I3L3U8
swissprot - I3L409
Ensembl - ENSG00000189067
  
Related genetic diseases (OMIM): 601098 - Charcot-Marie-Tooth disease, type 1C, 601098
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 litafENSDARG00000103483Danio rerio
 LITAFENSGALG00000003217Gallus gallus
 LitafENSMUSG00000022500Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CDIP1 / Q9H305 / cell death inducing p53 target 1ENSG0000008948632
AC022167.5ENSG0000028351620


Protein motifs (from Interpro)
Interpro ID Name
 IPR006629  LPS-induced tumour necrosis factor alpha factor
 IPR037519  LITAF domain containing protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001817 regulation of cytokine production IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II TAS
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007568 aging IEA
 biological_processGO:0032496 response to lipopolysaccharide IEA
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling HMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 biological_processGO:0071222 cellular response to lipopolysaccharide IEA
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane IDA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005794 Golgi apparatus IMP
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IMP
 cellular_componentGO:0009898 cytoplasmic side of plasma membrane IDA
 cellular_componentGO:0010008 endosome membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031901 early endosome membrane IEA
 cellular_componentGO:0031902 late endosome membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0098559 cytoplasmic side of early endosome membrane IDA
 cellular_componentGO:0098560 cytoplasmic side of late endosome membrane IDA
 cellular_componentGO:0098574 cytoplasmic side of lysosomal membrane IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IC
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0004871 obsolete signal transducer activity HMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008270 zinc ion binding IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0050699 WW domain binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001265 Hyporeflexia 
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 HP:0001425 Heterogeneous 
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 HP:0001761 Pes cavus 
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 HP:0002460 Distal muscle weakness "Reduced strength of the distal musculature." [HPO:curators]
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 HP:0002936 Distal sensory impairment 
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 HP:0003382 Hypertrophic nerve changes 
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 HP:0003383 Onion bulb formations on nerve biopsy 
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 HP:0003431 Decreased motor nerve conduction velocity (NCV) 
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 HP:0003481 Segmental demyelination/remyelination 
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 HP:0003621 Juvenile onset 
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 HP:0003693 Distal amyotrophy "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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