Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ACD contributors: mct/pgu - updated : 12-05-2012
HGNC name adrenocortical dysplasia homolog (mouse)
HGNC id 25070
Corresponding disease
DKCA6 dyskeratosis congenita, 6
Location 16q22.1      Physical location : 67.691.415 - 67.694.718
Synonym name
  • TIN2 interacting protein 1
  • POT1 and TIN2 organizing protein
    • Synonym symbol(s) PTOP, Pip1, TINT1, TPP1
    DNA
    TYPE functioning gene
    STRUCTURE 3.30 kb     12 Exon(s)
    MAPPING cloned Y linked N status
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2095 57.6 544 - 2004 15383534
  • isoform 1
    • 12 - 2086 57.3 541 - 2004 15383534
  • isoform 2
    • 12 - 2047 55.7 528 - 2004 15383534
  • isoform 3
    		•
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Lymphoid/Immunelymph node   highly
    Nervousbrain   highly
    Reproductivefemale systemuteruscervix highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an OB domain, critical for telomerase recruitment and regulation
    • HOMOLOGY
    interspecies homolog to murine Acd
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome,telomere
    basic FUNCTION
  • recruits POT1 to the TINF2/TERF1 complex and functions as a negative regulator of telomerase-mediated telomere elongation
  • helps to stabilize the TERF1-TINF2-TERF2 interaction and promote six-protein complex formation
  • critical role in telomere maintenance, and ACD with POT1 have a role to protect human telomeres, by both positively and negatively regulating telomerase access to telomere DNA
  • maintains genomic stability through a complex role in telomere protection
  • ACD and POT1 function as a unit to protect telomeres, by both positively and negatively regulating telomerase access to telomere DNA (PMID :
  • required for the protective function of POT1 proteins
  • TINF2-anchored ACD plays a major role in the recruitment of telomerase to telomeres in human cells
  • preferential recruitment of shelterin complex to areas of the telomere where ss- and ds-DNA are in close proximity, such as the 3prime-telomeric overhang, telomeric DNA bubbles and the D-loop at the base of T-loops
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with TINF2, POT1, and TERF2IP to ensure proper maintenance of telomeres (high-molecular-mass telomeric complex, the telosome that contains the six core proteins TERF1, TERF2, TERF2IP, POT1, TINF2 and ACD)
  • part of telomere-specific complex, called shelterin
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with TINF2
  • coordinated interactions among TINF2, TERF1, and TERF2 may ensure robust assembly of the telosome, telomere targeting of its subunits, and, ultimately, regulated telomere maintenance
  • POT1 (interaction has previously been implicated in the regulation of telomere length)
  • interacting with TERF1, TERF2 and POT1
  • can associate with another OB fold-containing protein, OBFC1/AAF44
  • interacts with components of a telomere cap complex, but does not directly bind to telomeric DNA
  • a sequence-specific interaction with TERT is necessary for high-processivity telomerase action
  • TINF2 binds to ACD through the TIN2-interacting domain
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DKCA6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS