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ACD (ACD, shelterin complex subunit and telomerase recruitment factor)

Identity

Alias_namesadrenocortical dysplasia homolog (mouse)
Alias_symbol (synonym)Ptop
Pip1
Tpp1
Tint1
Other aliasPIP1
PTOP
TINT1
TPP1
HGNC (Hugo) ACD
LocusID (NCBI) 65057
Atlas_Id 46714
Location 16q22.1  [Link to chromosome band 16q22]
Location_base_pair Starts at 67657512 and ends at 67660815 bp from pter ( according to hg38-Dec_2013)

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)ACD   25070
Cards
Entrez_Gene (NCBI)ACD  65057  ACD, shelterin complex subunit and telomerase recruitment factor
AliasesPIP1; PTOP; TINT1; TPP1
GeneCards (Weizmann)ACD
Ensembl hg19 (Hinxton)ENSG00000102977 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000102977 [Gene_View]  chr16:67657512-67660815 [Contig_View]  ACD [Vega]
ICGC DataPortalENSG00000102977
TCGA cBioPortalACD
AceView (NCBI)ACD
Genatlas (Paris)ACD
WikiGenes65057
SOURCE (Princeton)ACD
Genetics Home Reference (NIH)ACD
Genomic and cartography
GoldenPath hg38 (UCSC)ACD  -     chr16:67657512-67660815 -  16q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACD  -     16q22.1   [Description]    (hg19-Feb_2009)
EnsemblACD - 16q22.1 [CytoView hg19]  ACD - 16q22.1 [CytoView hg38]
Mapping of homologs : NCBIACD [Mapview hg19]  ACD [Mapview hg38]
OMIM609377   616553   
Gene and transcription
Genbank (Entrez)AF070535 AK023726 AK125623 AK301090 AY502940
RefSeq transcript (Entrez)NM_001082486 NM_001082487 NM_022914
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ACD
Cluster EST : UnigeneHs.78019 [ NCBI ]
CGAP (NCI)Hs.78019
Alternative Splicing GalleryENSG00000102977
Gene ExpressionACD [ NCBI-GEO ]   ACD [ EBI - ARRAY_EXPRESS ]   ACD [ SEEK ]   ACD [ MEM ]
Gene Expression Viewer (FireBrowse)ACD [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)65057
GTEX Portal (Tissue expression)ACD
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96AP0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96AP0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96AP0
Splice isoforms : SwissVarQ96AP0
PhosPhoSitePlusQ96AP0
Domains : Interpro (EBI)ACD   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ACD
DMDM Disease mutations65057
Blocks (Seattle)ACD
PDB (SRS)2I46    5I2X    5I2Y   
PDB (PDBSum)2I46    5I2X    5I2Y   
PDB (IMB)2I46    5I2X    5I2Y   
PDB (RSDB)2I46    5I2X    5I2Y   
Structural Biology KnowledgeBase2I46    5I2X    5I2Y   
SCOP (Structural Classification of Proteins)2I46    5I2X    5I2Y   
CATH (Classification of proteins structures)2I46    5I2X    5I2Y   
SuperfamilyQ96AP0
Human Protein AtlasENSG00000102977
Peptide AtlasQ96AP0
HPRD12417
IPIIPI00254484   IPI00639852   IPI00908790   IPI00843911   
Protein Interaction databases
DIP (DOE-UCLA)Q96AP0
IntAct (EBI)Q96AP0
FunCoupENSG00000102977
BioGRIDACD
STRING (EMBL)ACD
ZODIACACD
Ontologies - Pathways
QuickGOQ96AP0
Ontology : AmiGOtelomere maintenance  nuclear telomere cap complex  nuclear chromosome, telomeric region  skeletal system development  urogenital system development  protein binding  nucleoplasm  intracellular protein transport  telomere capping  telomere capping  telomere capping  telomere capping  nuclear body  embryonic limb morphogenesis  protection from non-homologous end joining at telomere  telomere assembly  negative regulation of telomere maintenance via telomerase  negative regulation of telomere maintenance via telomerase  negative regulation of telomere maintenance via telomerase  positive regulation of telomere maintenance via telomerase  segmentation  telomeric DNA binding  macromolecular complex binding  positive regulation of telomerase activity  positive regulation of single-stranded telomeric DNA binding  DNA polymerase binding  DNA polymerase binding  shelterin complex  shelterin complex  shelterin complex  protein localization to chromosome, telomeric region  protein localization to chromosome, telomeric region  establishment of protein localization to telomere  establishment of protein localization to telomere  
Ontology : EGO-EBItelomere maintenance  nuclear telomere cap complex  nuclear chromosome, telomeric region  skeletal system development  urogenital system development  protein binding  nucleoplasm  intracellular protein transport  telomere capping  telomere capping  telomere capping  telomere capping  nuclear body  embryonic limb morphogenesis  protection from non-homologous end joining at telomere  telomere assembly  negative regulation of telomere maintenance via telomerase  negative regulation of telomere maintenance via telomerase  negative regulation of telomere maintenance via telomerase  positive regulation of telomere maintenance via telomerase  segmentation  telomeric DNA binding  macromolecular complex binding  positive regulation of telomerase activity  positive regulation of single-stranded telomeric DNA binding  DNA polymerase binding  DNA polymerase binding  shelterin complex  shelterin complex  shelterin complex  protein localization to chromosome, telomeric region  protein localization to chromosome, telomeric region  establishment of protein localization to telomere  establishment of protein localization to telomere  
NDEx NetworkACD
Atlas of Cancer Signalling NetworkACD
Wikipedia pathwaysACD
Orthology - Evolution
OrthoDB65057
GeneTree (enSembl)ENSG00000102977
Phylogenetic Trees/Animal Genes : TreeFamACD
HOVERGENQ96AP0
HOGENOMQ96AP0
Homologs : HomoloGeneACD
Homology/Alignments : Family Browser (UCSC)ACD
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACD
dbVarACD
ClinVarACD
1000_GenomesACD 
Exome Variant ServerACD
ExAC (Exome Aggregation Consortium)ACD (select the gene name)
Genetic variants : HAPMAP65057
Genomic Variants (DGV)ACD [DGVbeta]
DECIPHERACD [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisACD 
Mutations
ICGC Data PortalACD 
TCGA Data PortalACD 
Broad Tumor PortalACD
OASIS PortalACD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACD  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDACD
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 ACD
DgiDB (Drug Gene Interaction Database)ACD
DoCM (Curated mutations)ACD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACD (select a term)
intoGenACD
Cancer3DACD(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609377    616553   
Orphanet2949    3560    22692   
MedgenACD
Genetic Testing Registry ACD
NextProtQ96AP0 [Medical]
TSGene65057
GENETestsACD
Target ValidationACD
Huge Navigator ACD [HugePedia]
snp3D : Map Gene to Disease65057
BioCentury BCIQACD
ClinGenACD
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD65057
Chemical/Pharm GKB GenePA134882431
Clinical trialACD
Miscellaneous
canSAR (ICR)ACD (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACD
EVEXACD
GoPubMedACD
iHOPACD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:54:12 CEST 2017

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