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ACD adrenocortical dysplasia homolog (mouse) [ Homo sapiens (human) ]

Gene ID: 65057, updated on 7-Aug-2014
Official Symbol
ACDprovided by HGNC
Official Full Name
adrenocortical dysplasia homolog (mouse)provided by HGNC
Primary source
HGNC:25070
See related
Ensembl:ENSG00000102977; HPRD:12417; 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]
Location:
16q22.1
Exon count:
12
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 16 NC_000016.10 (67657512..67660815, 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 family with sequence similarity 65, member A Neighboring gene CCCTC-binding factor (zinc finger protein) Neighboring gene RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing Neighboring gene par-6 family cell polarity regulator alpha Neighboring gene enkurin domain containing 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA polymerase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
embryonic limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
intracellular protein transport IMP
Inferred from Mutant Phenotype
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 
positive regulation of single-stranded telomeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of telomerase activity IDA
Inferred from Direct Assay
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
segmentation IEA
Inferred from Electronic Annotation
more info
 
skeletal system development IEA
Inferred from Electronic Annotation
more info
 
telomere assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomere capping IGI
Inferred from Genetic Interaction
more info
PubMed 
telomere capping NAS
Non-traceable Author Statement
more info
PubMed 
telomere maintenance IDA
Inferred from Direct Assay
more info
PubMed 
telomere maintenance TAS
Traceable Author Statement
more info
 
urogenital system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
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
 
Preferred Names
adrenocortical dysplasia protein homolog
Names
adrenocortical dysplasia protein homolog
TIN2 interacting protein 1
POT1 and TIN2 organizing protein
POT1 and TIN2-interacting protein

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.

mRNA and Protein(s)

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

    See proteins identical to NP_001075955.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF070535, BC016904, DB040017
    Consensus CDS
    CCDS42181.1
    UniProtKB/Swiss-Prot
    Q96AP0
    Related
    ENSP00000377496, OTTHUMP00000174851, ENST00000393919, OTTHUMT00000268880
    Conserved Domains (1) summary
    pfam10341
    Location:97206
    Blast Score: 250
    TPP1; Shelterin complex subunit, TPP1/ACD
  2. NM_001082487.1NP_001075956.1  adrenocortical dysplasia protein homolog isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses alternate in-frame splice sites in the 5' and 3' coding regions, compared to variant 1, resulting in a shorter protein (isoform 3).
    Source sequence(s)
    AC010530, AF070535, BC016904, DB040017
    UniProtKB/Swiss-Prot
    Q96AP0
    Conserved Domains (1) summary
    pfam10341
    Location:97203
    Blast Score: 231
    TPP1; Shelterin complex subunit, TPP1/ACD
  3. NM_022914.2NP_075065.2  adrenocortical dysplasia protein homolog isoform 2

    See proteins identical to NP_075065.2

    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, DB040017
    Consensus CDS
    CCDS10842.1
    UniProtKB/Swiss-Prot
    Q96AP0
    Related
    ENSP00000219251, OTTHUMP00000174852, ENST00000219251, OTTHUMT00000268881
    Conserved Domains (1) summary
    pfam10341
    Location:97203
    Blast Score: 231
    TPP1; Shelterin complex subunit, TPP1/ACD

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

    Range
    67657512..67660815
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256115.1XP_005256172.1  

    Conserved Domains (1) summary
    pfam10341
    Location:97206
    Blast Score: 250
    TPP1; Shelterin complex subunit, TPP1/ACD

RNA

  1. XR_429727.1 RNA Sequence

  2. XR_429728.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000148.1 

    Range
    53564327..53567630
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

    Range
    69099128..69102431
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)