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ACD ACD, shelterin complex subunit and telomerase recruitment factor [ Homo sapiens (human) ]

Gene ID: 65057, updated on 11-Nov-2018

Summary

Official Symbol
ACDprovided by HGNC
Official Full Name
ACD, shelterin complex subunit and telomerase recruitment factorprovided by HGNC
Primary source
HGNC:HGNC:25070
See related
Ensembl:ENSG00000102977 MIM:609377; Vega:OTTHUMG00000137547
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PIP1; PTOP; TPP1; TINT1
Summary
This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]
Annotation information
Note: TPP1 (Gene ID: 1200) and ACD (Gene ID: 65057) share the TPP1 symbol/alias in common. TPP1 is a widely used alternative name for ACD, shelterin complex subunit and telomerase recruitment factor (ACD), which can be confused with the official symbol for TPP1 (tripeptidyl peptidase 1, GeneID 1200). [01 Jun 2018]
Expression
Ubiquitous expression in ovary (RPKM 8.8), testis (RPKM 8.5) and 25 other tissues See more
Orthologs

Genomic context

See ACD in Genome Data Viewer
Location:
16q22.1
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (67657512..67660832, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67691415..67694718, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100505942 Neighboring gene RHO family interacting cell polarization regulator 1 Neighboring gene uncharacterized LOC107984813 Neighboring gene CCCTC-binding factor Neighboring gene capping protein regulator and myosin 1 linker 2 Neighboring gene par-6 family cell polarity regulator alpha Neighboring gene chromosome 16 open reading frame 86 Neighboring gene enkurin domain containing 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Dyskeratosis congenita, autosomal dominant 6
MedGen: C4225284 OMIM: 616553 GeneReviews: Dyskeratosis Congenita
Compare labs

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cellular Senescence, organism-specific biosystem (from REACTOME)
    Cellular Senescence, organism-specific biosystemCellular senescence involves irreversible growth arrest accompanied by phenotypic changes such as enlarged morphology, reorganization of chromatin through formation of senescence-associated heterochr...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • Chromosome Maintenance, organism-specific biosystem (from REACTOME)
    Chromosome Maintenance, organism-specific biosystemChromosome maintenance is critical for stable chromosome function in mammalian and other eukaryotic cells. Aspects of telomere maintenance and nucleosome assembly are covered here.
  • DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystem (from REACTOME)
    DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystemReactive oxygen species (ROS), whose concentration increases in senescent cells due to oncogenic RAS-induced mitochondrial dysfunction (Moiseeva et al. 2009) or due to environmental stress, cause DNA...
  • Meiosis, organism-specific biosystem (from REACTOME)
    Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
  • Meiotic synapsis, organism-specific biosystem (from REACTOME)
    Meiotic synapsis, organism-specific biosystemMeiotic synapsis is the stable physical pairing of homologous chromosomes that begins in leptonema of prophase I and lasts until anaphase of prophase I. First, short segments of axial elements form a...
  • Packaging Of Telomere Ends, organism-specific biosystem (from REACTOME)
    Packaging Of Telomere Ends, organism-specific biosystemMultiple steps, including C-strand resection, telomerase-mediated elongation, and C-strand synthesis are involved in processing and maintaining the telomere. Though this module posits a linear trans...
  • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of Telomerase, organism-specific biosystem
    Regulation of Telomerase
  • Shelterin complex, organism-specific biosystem (from KEGG)
    Shelterin complex, organism-specific biosystemStructural complex; Genetic information processing; Replication system
  • Shelterin complex, conserved biosystem (from KEGG)
    Shelterin complex, conserved biosystemStructural complex; Genetic information processing; Replication system
  • Telomere Maintenance, organism-specific biosystem (from REACTOME)
    Telomere Maintenance, organism-specific biosystemTelomeres are protein-DNA complexes at the ends of linear chromosomes that are important for genome stability. Telomeric DNA in humans, as in many eukaryotic organisms, consists of tandem repeats (B...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA polymerase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA polymerase binding IPI
Inferred from Physical Interaction
more info
PubMed 
DNA polymerase binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding involved in negative regulation of telomere maintenance via telomerase IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
embryonic limb morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment of protein localization to telomere IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of protein localization to telomere TAS
Traceable Author Statement
more info
PubMed 
intracellular protein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic telomere maintenance via semi-conservative replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of telomere maintenance via telomerase IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of telomere maintenance via telomerase IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of telomere maintenance via telomerase TAS
Traceable Author Statement
more info
PubMed 
positive regulation of single-stranded telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of single-stranded telomeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of telomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of telomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of telomere maintenance via telomerase IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of telomere maintenance via telomerase IDA
Inferred from Direct Assay
more info
PubMed 
protection from non-homologous end joining at telomere IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protection from non-homologous end joining at telomere ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein localization to chromosome, telomeric region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
protein localization to chromosome, telomeric region IMP
Inferred from Mutant Phenotype
more info
PubMed 
segmentation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomere assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomere assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomere capping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomere capping IDA
Inferred from Direct Assay
more info
PubMed 
telomere capping IGI
Inferred from Genetic Interaction
more info
PubMed 
telomere capping NAS
Non-traceable Author Statement
more info
PubMed 
telomere capping TAS
Traceable Author Statement
more info
PubMed 
telomere maintenance IDA
Inferred from Direct Assay
more info
PubMed 
telomere-telomerase complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
urogenital system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nuclear body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nuclear chromosome, telomeric region HDA PubMed 
nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nuclear telomere cap complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
shelterin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
shelterin complex IDA
Inferred from Direct Assay
more info
PubMed 
shelterin complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
shelterin complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
adrenocortical dysplasia protein homolog
Names
POT1 and TIN2-interacting protein
TIN2 interacting protein 1
adrenocortical dysplasia homolog

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042874.1 RefSeqGene

    Range
    5556..8304
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1237

mRNA and Protein(s)

  1. NM_001082486.2NP_001075955.2  adrenocortical dysplasia protein homolog isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF070535, BC016904
    Consensus CDS
    CCDS42181.1
    Related
    ENSP00000483117.1, ENST00000620338.4
    Conserved Domains (3) summary
    pfam10341
    Location:12119
    TPP1; Shelterin complex subunit, TPP1/ACD
    cl26464
    Location:242453
    Atrophin-1; Atrophin-1 family
    cl27863
    Location:286381
    SSL_OB; Staphylococcal superantigen-like OB-fold domain
  2. NM_022914.3NP_075065.3  adrenocortical dysplasia protein homolog isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2).
    Source sequence(s)
    AF070535, AK023726
    Consensus CDS
    CCDS10842.1
    Related
    ENSP00000219251.8, ENST00000219251.13
    Conserved Domains (3) summary
    pfam10341
    Location:12116
    TPP1; Shelterin complex subunit, TPP1/ACD
    cl26464
    Location:239450
    Atrophin-1; Atrophin-1 family
    cl27863
    Location:283378
    SSL_OB; Staphylococcal superantigen-like OB-fold domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    67657512..67660832 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256115.4XP_005256172.1  adrenocortical dysplasia protein homolog isoform X1

    Conserved Domains (1) summary
    pfam10341
    Location:97206
    TPP1; Shelterin complex subunit, TPP1/ACD

RNA

  1. XR_429727.3 RNA Sequence

  2. XR_429728.3 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001082487.1: Suppressed sequence

    Description
    NM_001082487.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
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