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

    Gene ID: 65057, updated on 6-Sep-2021

    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
    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
    NEW
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    Genomic context

    See ACD in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (67657512..67660832, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67691415..67694163, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene CTCF divergent transcript 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Biological insights from 108 schizophrenia-associated genetic loci.
    GeneReviews: Not available
    Dyskeratosis congenita, autosomal dominant 6
    MedGen: C4225284 OMIM: 616553 GeneReviews: Dyskeratosis Congenita
    Compare labs
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    GeneReviews: Not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-10-09)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2019-10-09)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    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)

    NEW Try the new Transcript table

    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
      ENSP00000478084.1, ENST00000620761.6
      Conserved Domains (3) summary
      PRK13042
      Location:286381
      PRK13042; superantigen-like protein SSL4; Reviewed
      PHA03247
      Location:242453
      PHA03247; large tegument protein UL36; Provisional
      pfam10341
      Location:11109
      TPP1; Shelterin complex subunit, TPP1/ACD
    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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 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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