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TTLL1 (tubulin tyrosine ligase like 1)

Identity

Alias (NCBI)C22orf7
HS323M22B
HGNC (Hugo) TTLL1
HGNC Previous nameC22orf7
HGNC Previous nametubulin tyrosine ligase-like 1
 tubulin tyrosine ligase-like family member 1
LocusID (NCBI) 25809
Atlas_Id 54735
Location 22q13.2  [Link to chromosome band 22q13]
Location_base_pair Starts at 43039516 and ends at 43089391 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 



External links

 

Nomenclature
HGNC (Hugo)TTLL1   1312
Cards
Entrez_Gene (NCBI)TTLL1    tubulin tyrosine ligase like 1
AliasesC22orf7; HS323M22B
GeneCards (Weizmann)TTLL1
Ensembl hg19 (Hinxton)ENSG00000100271 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100271 [Gene_View]  ENSG00000100271 [Sequence]  chr22:43039516-43089391 [Contig_View]  TTLL1 [Vega]
ICGC DataPortalENSG00000100271
TCGA cBioPortalTTLL1
AceView (NCBI)TTLL1
Genatlas (Paris)TTLL1
SOURCE (Princeton)TTLL1
Genetics Home Reference (NIH)TTLL1
Genomic and cartography
GoldenPath hg38 (UCSC)TTLL1  -     chr22:43039516-43089391 -  22q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TTLL1  -     22q13.2   [Description]    (hg19-Feb_2009)
GoldenPathTTLL1 - 22q13.2 [CytoView hg19]  TTLL1 - 22q13.2 [CytoView hg38]
ImmunoBaseENSG00000100271
Genome Data Viewer NCBITTLL1 [Mapview hg19]  
OMIM608955   
Gene and transcription
Genbank (Entrez)AF104927 AF173935 AI369631 AK095996 AK315658
RefSeq transcript (Entrez)NM_001008572 NM_012263
Consensus coding sequences : CCDS (NCBI)TTLL1
Gene ExpressionTTLL1 [ NCBI-GEO ]   TTLL1 [ EBI - ARRAY_EXPRESS ]   TTLL1 [ SEEK ]   TTLL1 [ MEM ]
Gene Expression Viewer (FireBrowse)TTLL1 [ Firebrowse - Broad ]
GenevisibleExpression of TTLL1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25809
GTEX Portal (Tissue expression)TTLL1
Human Protein AtlasENSG00000100271-TTLL1 [pathology]   [cell]   [tissue]
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
Catalytic activity : Enzyme6.-.-.- [ Enzyme-Expasy ]   6.-.-.-6.-.-.- [ IntEnz-EBI ]   6.-.-.- [ BRENDA ]   6.-.-.- [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusO95922
Domaine pattern : Prosite (Expaxy)TTL (PS51221)   
Domains : Interpro (EBI)ATP_grasp_subdomain_1    TTL/TTLL_fam    TTLL1   
Domain families : Pfam (Sanger)TTL (PF03133)   
Domain families : Pfam (NCBI)pfam03133   
Conserved Domain (NCBI)TTLL1
SuperfamilyO95922
AlphaFold pdb e-kbO95922   
Human Protein Atlas [tissue]ENSG00000100271-TTLL1 [tissue]
HPRD10604
Protein Interaction databases
DIP (DOE-UCLA)O95922
IntAct (EBI)O95922
BioGRIDTTLL1
STRING (EMBL)TTLL1
ZODIACTTLL1
Ontologies - Pathways
QuickGOO95922
Ontology : AmiGOmicrotubule cytoskeleton organization  immune response in nasopharyngeal-associated lymphoid tissue  ATP binding  extracellular region  cytoplasm  microtubule  cilium  sperm axoneme assembly  tubulin binding  protein polyglutamylation  protein polyglutamylation  cerebellar Purkinje cell differentiation  ciliary basal body  tubulin-glutamic acid ligase activity  tubulin-glutamic acid ligase activity  mucociliary clearance  regulation of blastocyst development  
Ontology : EGO-EBImicrotubule cytoskeleton organization  immune response in nasopharyngeal-associated lymphoid tissue  ATP binding  extracellular region  cytoplasm  microtubule  cilium  sperm axoneme assembly  tubulin binding  protein polyglutamylation  protein polyglutamylation  cerebellar Purkinje cell differentiation  ciliary basal body  tubulin-glutamic acid ligase activity  tubulin-glutamic acid ligase activity  mucociliary clearance  regulation of blastocyst development  
NDEx NetworkTTLL1
Atlas of Cancer Signalling NetworkTTLL1
Wikipedia pathwaysTTLL1
Orthology - Evolution
OrthoDB25809
GeneTree (enSembl)ENSG00000100271
Phylogenetic Trees/Animal Genes : TreeFamTTLL1
Homologs : HomoloGeneTTLL1
Homology/Alignments : Family Browser (UCSC)TTLL1
Gene fusions - Rearrangements
Fusion : MitelmanGPX8/TTLL1 [5q11.2/22q13.2]  
Fusion : MitelmanPACSIN2/TTLL1 [22q13.2/22q13.2]  
Fusion : MitelmanPOLDIP3/TTLL1 [22q13.2/22q13.2]  
Fusion : MitelmanTTLL1/KIF1B [22q13.2/1p36.22]  
Fusion : MitelmanTTLL1/TSPO [22q13.2/22q13.2]  
Fusion : QuiverTTLL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTTLL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TTLL1
dbVarTTLL1
ClinVarTTLL1
MonarchTTLL1
1000_GenomesTTLL1 
Exome Variant ServerTTLL1
GNOMAD BrowserENSG00000100271
Varsome BrowserTTLL1
ACMGTTLL1 variants
VarityO95922
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]  
Somatic Mutations in Cancer : COSMIC3DTTLL1
Mutations and Diseases : HGMDTTLL1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTTLL1
DgiDB (Drug Gene Interaction Database)TTLL1
DoCM (Curated mutations)TTLL1
CIViC (Clinical Interpretations of Variants in Cancer)TTLL1
Cancer3DTTLL1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608955   
Orphanet
DisGeNETTTLL1
MedgenTTLL1
Genetic Testing Registry TTLL1
NextProtO95922 [Medical]
GENETestsTTLL1
Target ValidationTTLL1
Huge Navigator TTLL1 [HugePedia]
ClinGenTTLL1
Clinical trials, drugs, therapy
MyCancerGenomeTTLL1
Protein Interactions : CTDTTLL1
Pharm GKB GenePA35030
PharosO95922
Clinical trialTTLL1
Miscellaneous
canSAR (ICR)TTLL1
HarmonizomeTTLL1
DataMed IndexTTLL1
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTTLL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:36:46 CEST 2021

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