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

Gene ID: 65057, updated on 14-Nov-2024

Summary

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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; AllianceGenome:HGNC:25070
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
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Genomic context

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See ACD in Genome Data Viewer
Location:
16q22.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (67657512..67660260, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (73452280..73455028, complement)
RS_2024_09 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 uncharacterized LOC124903703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10978 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67596785-67597647 Neighboring gene CTCF divergent transcript Neighboring gene CCCTC-binding factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7616 Neighboring gene capping protein regulator and myosin 1 linker 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67687361-67687893 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67693493-67694076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7619 Neighboring gene par-6 family cell polarity regulator alpha Neighboring gene enkurin domain containing 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Shelterin and the replisome: at the intersection of telomere repair and replication. Cicconi A, et al. Curr Opin Genet Dev, 2020 Feb. PMID 32171974
  2. Structural and functional consequences of a disease mutation in the telomere protein TPP1. Bisht K, et al. Proc Natl Acad Sci U S A, 2016 Nov 15. PMID 27807141, Free PMC Article
  3. Dynamic peptides of human TPP1 fulfill diverse functions in telomere maintenance. Rajavel M, et al. Nucleic Acids Res, 2016 Dec 1. PMID 27655633, Free PMC Article
  4. A novel somatic mutation in ACD induces telomere lengthening and apoptosis resistance in leukemia cells. Spinella JF, et al. BMC Cancer, 2015 Sep 7. PMID 26345285, Free PMC Article
  5. Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes. Tummala H, et al. Blood, 2018 Sep 20. PMID 30064976, Free PMC Article

See all (123) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TPP1 is associated with risk of advanced precursors and cervical cancer survival.
    Title: TPP1 is associated with risk of advanced precursors and cervical cancer survival.
  2. Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
    Title: Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
  3. CTC1 OB-B interaction with TPP1 terminates telomerase and prevents telomere overextension.
    Title: CTC1 OB-B interaction with TPP1 terminates telomerase and prevents telomere overextension.
  4. Complex interaction network revealed by mutation of human telomerase 'insertion in fingers' and essential N-terminal domains and the telomere protein TPP1.
    Title: Complex interaction network revealed by mutation of human telomerase 'insertion in fingers' and essential N-terminal domains and the telomere protein TPP1.
  5. TPP1 promoter mutations cooperate with TERT promoter mutations to lengthen telomeres in melanoma.
    Title: TPP1 promoter mutations cooperate with TERT promoter mutations to lengthen telomeres in melanoma.
  6. Coordinated interactions of multiple POT1-TPP1 proteins with telomere DNA.
    Title: Coordinated interactions of multiple POT1-TPP1 proteins with telomere DNA.
  7. Two Separation-of-Function Isoforms of Human TPP1 Dictate Telomerase Regulation in Somatic and Germ Cells.
    Title: Two Separation-of-Function Isoforms of Human TPP1 Dictate Telomerase Regulation in Somatic and Germ Cells.
  8. Dynamic peptides of human TPP1 fulfill diverse functions in telomere maintenance.
    Title: Dynamic peptides of human TPP1 fulfill diverse functions in telomere maintenance.
  9. NEK6-mediated phosphorylation of human TPP1 regulates telomere length through telomerase recruitment.
    Title: NEK6-mediated phosphorylation of human TPP1 regulates telomere length through telomerase recruitment.
  10. Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
    Title: Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
Submit: New GeneRIF Correction See all GeneRIFs (71)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Dyskeratosis congenita, autosomal dominant 6
MedGen: C4225284 OMIM: 616553 GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders
not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 telomerase inhibitor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
involved_in negative regulation of telomere maintenance via telomerase IDA
Inferred from Direct Assay
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 positive regulation of telomere maintenance NAS
Non-traceable Author Statement
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
  
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 regulation of establishment of protein localization to telomere IDA
Inferred from Direct Assay
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
  
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 IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in telomere maintenance via telomerase TAS
Traceable Author Statement
more info
 PubMed 
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
  
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 IPI
Inferred from Physical Interaction
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

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

NCBI Reference Sequences (RefSeq)

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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_001082486.2 → NP_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
    CCDS42181.2
    UniProtKB/Swiss-Prot
    A0A0C4DGT6, Q562H5, Q96AP0, Q9H8F9
    UniProtKB/TrEMBL
    A0A8Q3SHY1
    Related
    ENSP00000478084.1, ENST00000620761.6
    Conserved Domains (3) summary
    PRK13042
    Location:286 → 381
    PRK13042; superantigen-like protein SSL4; Reviewed
    PHA03247
    Location:242 → 453
    PHA03247; large tegument protein UL36; Provisional
    pfam10341
    Location:11 → 109
    TPP1; Shelterin complex subunit, TPP1/ACD

  2. NM_001410884.1 → NP_001397813.1  adrenocortical dysplasia protein homolog isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC010530
    Consensus CDS
    CCDS92179.1
    UniProtKB/TrEMBL
    A0A8Q3WM11
    Related
    ENSP00000512106.1, ENST00000695697.1

  3. NM_022914.3 → NP_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
    CCDS10842.2
    UniProtKB/TrEMBL
    A0A8Q3SHY1
    Related
    ENSP00000219251.8, ENST00000219251.13
    Conserved Domains (3) summary
    pfam10341
    Location:12 → 116
    TPP1; Shelterin complex subunit, TPP1/ACD
    cl26464
    Location:239 → 450
    Atrophin-1; Atrophin-1 family
    cl27863
    Location:283 → 378
    SSL_OB; Staphylococcal superantigen-like OB-fold domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    67657512..67660260 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_429728.4 RNA Sequence

    Related
    ENST00000695650.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    73452280..73455028 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_008484726.1 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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96AP0.4 GenPept UniProtKB/Swiss-Prot:Q96AP0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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