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ACD (ACD shelterin complex subunit and telomerase recruitment factor)

Identity

Alias (NCBI)PIP1
PTOP
TINT1
TPP1
HGNC (Hugo) ACD
HGNC Alias symbPtop
Pip1
Tpp1
Tint1
HGNC Alias nameTIN2 interacting protein 1
 POT1 and TIN2 organizing protein
HGNC Previous nameadrenocortical dysplasia homolog (mouse)
LocusID (NCBI) 65057
Atlas_Id 46714
Location 16q22.1  [Link to chromosome band 16q22]
Location_base_pair Starts at 67657512 and ends at 67660260 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)

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    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]  ENSG00000102977 [Sequence]  chr16:67657512-67660260 [Contig_View]  ACD [Vega]
ICGC DataPortalENSG00000102977
TCGA cBioPortalACD
AceView (NCBI)ACD
Genatlas (Paris)ACD
SOURCE (Princeton)ACD
Genetics Home Reference (NIH)ACD
Genomic and cartography
GoldenPath hg38 (UCSC)ACD  -     chr16:67657512-67660260 -  16q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACD  -     16q22.1   [Description]    (hg19-Feb_2009)
GoldenPathACD - 16q22.1 [CytoView hg19]  ACD - 16q22.1 [CytoView hg38]
ImmunoBaseENSG00000102977
Genome Data Viewer NCBIACD [Mapview hg19]  
OMIM609377   616553   
Gene and transcription
Genbank (Entrez)AF070535 AK023726 AK125623 AK301090 AY502940
RefSeq transcript (Entrez)NM_001082486 NM_001082487 NM_022914
Consensus coding sequences : CCDS (NCBI)ACD
Gene ExpressionACD [ NCBI-GEO ]   ACD [ EBI - ARRAY_EXPRESS ]   ACD [ SEEK ]   ACD [ MEM ]
Gene Expression Viewer (FireBrowse)ACD [ Firebrowse - Broad ]
GenevisibleExpression of ACD in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)65057
GTEX Portal (Tissue expression)ACD
Human Protein AtlasENSG00000102977-ACD [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ96AP0
Domains : Interpro (EBI)ACD    TPP1/Est3   
Domain families : Pfam (Sanger)TPP1 (PF10341)   
Domain families : Pfam (NCBI)pfam10341   
Conserved Domain (NCBI)ACD
PDB (RSDB)2I46    5H65    5I2X    5I2Y    5UN7    5XYF   
PDB Europe2I46    5H65    5I2X    5I2Y    5UN7    5XYF   
PDB (PDBSum)2I46    5H65    5I2X    5I2Y    5UN7    5XYF   
PDB (IMB)2I46    5H65    5I2X    5I2Y    5UN7    5XYF   
Structural Biology KnowledgeBase2I46    5H65    5I2X    5I2Y    5UN7    5XYF   
SCOP (Structural Classification of Proteins)2I46    5H65    5I2X    5I2Y    5UN7    5XYF   
CATH (Classification of proteins structures)2I46    5H65    5I2X    5I2Y    5UN7    5XYF   
SuperfamilyQ96AP0
AlphaFold pdb e-kbQ96AP0   
Human Protein Atlas [tissue]ENSG00000102977-ACD [tissue]
HPRD12417
Protein Interaction databases
DIP (DOE-UCLA)Q96AP0
IntAct (EBI)Q96AP0
BioGRIDACD
STRING (EMBL)ACD
ZODIACACD
Ontologies - Pathways
QuickGOQ96AP0
Ontology : AmiGOtelomere maintenance  telomere maintenance  chromosome, telomeric region  chromosome, telomeric region  nuclear telomere cap complex  skeletal system development  urogenital system development  protein binding  nucleoplasm  telomerase holoenzyme complex  intracellular protein transport  telomere maintenance via telomerase  telomere capping  telomere capping  telomere capping  telomere capping  telomere capping  nuclear body  embryonic limb morphogenesis  protection from non-homologous end joining at telomere  telomere maintenance via semi-conservative replication  telomere assembly  negative regulation of telomere maintenance via telomerase  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  telomeric DNA binding  protein-containing complex binding  depurination  negative regulation of DNA recombination at telomere  positive regulation of telomerase activity  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  shelterin complex  protein localization to chromosome, telomeric region  protein localization to chromosome, telomeric region  protein localization to chromosome, telomeric region  establishment of protein localization to telomere  establishment of protein localization to telomere  positive regulation of histone exchange  
Ontology : EGO-EBItelomere maintenance  telomere maintenance  chromosome, telomeric region  chromosome, telomeric region  nuclear telomere cap complex  skeletal system development  urogenital system development  protein binding  nucleoplasm  telomerase holoenzyme complex  intracellular protein transport  telomere maintenance via telomerase  telomere capping  telomere capping  telomere capping  telomere capping  telomere capping  nuclear body  embryonic limb morphogenesis  protection from non-homologous end joining at telomere  telomere maintenance via semi-conservative replication  telomere assembly  negative regulation of telomere maintenance via telomerase  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  telomeric DNA binding  protein-containing complex binding  depurination  negative regulation of DNA recombination at telomere  positive regulation of telomerase activity  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  shelterin complex  protein localization to chromosome, telomeric region  protein localization to chromosome, telomeric region  protein localization to chromosome, telomeric region  establishment of protein localization to telomere  establishment of protein localization to telomere  positive regulation of histone exchange  
NDEx NetworkACD
Atlas of Cancer Signalling NetworkACD
Wikipedia pathwaysACD
Orthology - Evolution
OrthoDB65057
GeneTree (enSembl)ENSG00000102977
Phylogenetic Trees/Animal Genes : TreeFamACD
Homologs : HomoloGeneACD
Homology/Alignments : Family Browser (UCSC)ACD
Gene fusions - Rearrangements
Fusion : QuiverACD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACD
dbVarACD
ClinVarACD
MonarchACD
1000_GenomesACD 
Exome Variant ServerACD
GNOMAD BrowserENSG00000102977
Varsome BrowserACD
ACMGACD variants
VarityQ96AP0
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]  
Somatic Mutations in Cancer : COSMIC3DACD
Mutations and Diseases : HGMDACD
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaACD
DgiDB (Drug Gene Interaction Database)ACD
DoCM (Curated mutations)ACD
CIViC (Clinical Interpretations of Variants in Cancer)ACD
Cancer3DACD
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609377    616553   
Orphanet2949    3560    22692   
DisGeNETACD
MedgenACD
Genetic Testing Registry ACD
NextProtQ96AP0 [Medical]
GENETestsACD
Target ValidationACD
Huge Navigator ACD [HugePedia]
ClinGenACD
Clinical trials, drugs, therapy
MyCancerGenomeACD
Protein Interactions : CTDACD
Pharm GKB GenePA134882431
PharosQ96AP0
Clinical trialACD
Miscellaneous
canSAR (ICR)ACD
HarmonizomeACD
DataMed IndexACD
Probes
Litterature
PubMed98 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXACD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 14:58:11 CEST 2021

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