Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

TTLL1 (tubulin tyrosine ligase like 1)

Identity

Alias_namesC22orf7
tubulin tyrosine ligase-like 1
tubulin tyrosine ligase-like family member 1
Other aliasHS323M22B
HGNC (Hugo) TTLL1
LocusID (NCBI) 25809
Atlas_Id 54735
Location 22q13.2  [Link to chromosome band 22q13]
Location_base_pair Starts at 43039516 and ends at 43089428 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GPX8 (5q11.2) / TTLL1 (22q13.2)PACSIN2 (22q13.2) / TTLL1 (22q13.2)POLDIP3 (22q13.2) / TTLL1 (22q13.2)
TTLL1 (22q13.2) / KIF1B (1p36.22)TTLL1 (22q13.2) / TSPO (22q13.2)TTLL1 (22q13.2) / UBE2R2 (9p13.3)
GPX8 5q11.2 / TTLL1 22q13.2PACSIN2 22q13.2 / TTLL1 22q13.2POLDIP3 22q13.2 / TTLL1 22q13.2
TTLL1 22q13.2 / KIF1B 1p36.22

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)TTLL1   1312
Cards
Entrez_Gene (NCBI)TTLL1  25809  tubulin tyrosine ligase like 1
AliasesC22orf7; HS323M22B
GeneCards (Weizmann)TTLL1
Ensembl hg19 (Hinxton)ENSG00000100271 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100271 [Gene_View]  chr22:43039516-43089428 [Contig_View]  TTLL1 [Vega]
ICGC DataPortalENSG00000100271
TCGA cBioPortalTTLL1
AceView (NCBI)TTLL1
Genatlas (Paris)TTLL1
WikiGenes25809
SOURCE (Princeton)TTLL1
Genetics Home Reference (NIH)TTLL1
Genomic and cartography
GoldenPath hg38 (UCSC)TTLL1  -     chr22:43039516-43089428 -  22q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TTLL1  -     22q13.2   [Description]    (hg19-Feb_2009)
EnsemblTTLL1 - 22q13.2 [CytoView hg19]  TTLL1 - 22q13.2 [CytoView hg38]
Mapping of homologs : NCBITTLL1 [Mapview hg19]  TTLL1 [Mapview hg38]
OMIM608955   
Gene and transcription
Genbank (Entrez)AF104927 AF173935 AI369631 AK095996 AK315658
RefSeq transcript (Entrez)NM_001008572 NM_012263
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TTLL1
Cluster EST : UnigeneHs.660298 [ NCBI ]
CGAP (NCI)Hs.660298
Alternative Splicing GalleryENSG00000100271
Gene ExpressionTTLL1 [ NCBI-GEO ]   TTLL1 [ EBI - ARRAY_EXPRESS ]   TTLL1 [ SEEK ]   TTLL1 [ MEM ]
Gene Expression Viewer (FireBrowse)TTLL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25809
GTEX Portal (Tissue expression)TTLL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95922   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95922  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95922
Splice isoforms : SwissVarO95922
Catalytic activity : Enzyme6.-.-.- [ Enzyme-Expasy ]   6.-.-.-6.-.-.- [ IntEnz-EBI ]   6.-.-.- [ BRENDA ]   6.-.-.- [ KEGG ]   
PhosPhoSitePlusO95922
Domaine pattern : Prosite (Expaxy)TTL (PS51221)   
Domains : Interpro (EBI)TTL/TTLL_fam    TTLL1   
Domain families : Pfam (Sanger)TTL (PF03133)   
Domain families : Pfam (NCBI)pfam03133   
Conserved Domain (NCBI)TTLL1
DMDM Disease mutations25809
Blocks (Seattle)TTLL1
SuperfamilyO95922
Human Protein AtlasENSG00000100271
Peptide AtlasO95922
HPRD10604
IPIIPI00302599   IPI00220256   IPI00335572   IPI00746748   IPI00916177   
Protein Interaction databases
DIP (DOE-UCLA)O95922
IntAct (EBI)O95922
FunCoupENSG00000100271
BioGRIDTTLL1
STRING (EMBL)TTLL1
ZODIACTTLL1Ontologies - Pathways
QuickGOO95922
Ontology : AmiGOepithelial cilium movement  ATP binding  cytoplasm  microtubule  sperm axoneme assembly  protein polyglutamylation  tubulin-glutamic acid ligase activity  sperm flagellum movement involved in flagellated sperm motility  
Ontology : EGO-EBIepithelial cilium movement  ATP binding  cytoplasm  microtubule  sperm axoneme assembly  protein polyglutamylation  tubulin-glutamic acid ligase activity  sperm flagellum movement involved in flagellated sperm motility  
NDEx NetworkTTLL1
Atlas of Cancer Signalling NetworkTTLL1
Wikipedia pathwaysTTLL1
Orthology - Evolution
OrthoDB25809
GeneTree (enSembl)ENSG00000100271
Phylogenetic Trees/Animal Genes : TreeFamTTLL1
HOVERGENO95922
HOGENOMO95922
Homologs : HomoloGeneTTLL1
Homology/Alignments : Family Browser (UCSC)TTLL1
Gene fusions - Rearrangements
Fusion : MitelmanGPX8/TTLL1 [5q11.2/22q13.2]  [t(5;22)(q11;q13)]  
Fusion : MitelmanPACSIN2/TTLL1 [22q13.2/22q13.2]  [t(22;22)(q13;q13)]  
Fusion : MitelmanPOLDIP3/TTLL1 [22q13.2/22q13.2]  [t(22;22)(q13;q13)]  
Fusion : MitelmanTTLL1/KIF1B [22q13.2/1p36.22]  [t(1;22)(p36;q13)]  
Fusion : MitelmanTTLL1/TSPO [22q13.2/22q13.2]  [inv(22)(q13q13)]  
Fusion: TCGAGPX8 5q11.2 TTLL1 22q13.2 LUAD
Fusion: TCGAPACSIN2 22q13.2 TTLL1 22q13.2 LUAD
Fusion: TCGAPOLDIP3 22q13.2 TTLL1 22q13.2 PRAD
Fusion: TCGATTLL1 22q13.2 KIF1B 1p36.22 SKCM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTTLL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TTLL1
dbVarTTLL1
ClinVarTTLL1
1000_GenomesTTLL1 
Exome Variant ServerTTLL1
ExAC (Exome Aggregation Consortium)TTLL1 (select the gene name)
Genetic variants : HAPMAP25809
Genomic Variants (DGV)TTLL1 [DGVbeta]
DECIPHERTTLL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTTLL1 
Mutations
ICGC Data PortalTTLL1 
TCGA Data PortalTTLL1 
Broad Tumor PortalTTLL1
OASIS PortalTTLL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTTLL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTTLL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TTLL1
DgiDB (Drug Gene Interaction Database)TTLL1
DoCM (Curated mutations)TTLL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TTLL1 (select a term)
intoGenTTLL1
Cancer3DTTLL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608955   
Orphanet
MedgenTTLL1
Genetic Testing Registry TTLL1
NextProtO95922 [Medical]
TSGene25809
GENETestsTTLL1
Target ValidationTTLL1
Huge Navigator TTLL1 [HugePedia]
snp3D : Map Gene to Disease25809
BioCentury BCIQTTLL1
ClinGenTTLL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25809
Chemical/Pharm GKB GenePA35030
Clinical trialTTLL1
Miscellaneous
canSAR (ICR)TTLL1 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTTLL1
EVEXTTLL1
GoPubMedTTLL1
iHOPTTLL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 25 19:36:43 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.