Human Gene ACD (ENST00000620761.6_16) from GENCODE V47lift37
  Description: ACD shelterin complex subunit and telomerase recruitment factor, transcript variant 1 (from RefSeq NM_001082486.2)
Gencode Transcript: ENST00000620761.6_16
Gencode Gene: ENSG00000102977.18_21
Transcript (Including UTRs)
   Position: hg19 chr16:67,691,415-67,694,163 Size: 2,749 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr16:67,691,509-67,694,123 Size: 2,615 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:67,691,415-67,694,163)mRNA (may differ from genome)Protein (458 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ACD_HUMAN
DESCRIPTION: RecName: Full=Adrenocortical dysplasia protein homolog; AltName: Full=POT1 and TIN2-interacting protein;
FUNCTION: Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Promotes binding of POT1 to single-stranded telomeric DNA. Modulates the inhibitory effects of POT1 on telomere elongation. The ACD-POT1 heterodimer enhances telomere elongation by increasing telomerase processivity. Plays a role in shelterin complex assembly. May play a role in organogenesis.
SUBUNIT: Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP ACD and POT1. Forms heterodimers with POT1. Identified in a complex with POT1 and single-stranded telomeric DNA. Interacts with STN1/OBFC1 and TINF2.
INTERACTION: Q9NUX5:POT1; NbExp=3; IntAct=EBI-717666, EBI-752420; Q9BSI4-3:TINF2; NbExp=6; IntAct=EBI-717666, EBI-717418;
SUBCELLULAR LOCATION: Nucleus. Chromosome, telomere.
SEQUENCE CAUTION: Sequence=AAX82621.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ACD
Diseases sorted by gene-association score: dyskeratosis congenita, autosomal dominant 6* (1619), acd-related dyskeratosis congenita* (500), dyskeratosis congenita* (116), dyskeratosis congenita autosomal recessive (13), corneal dystrophy, congenital stromal (9), dyskeratosis congenita autosomal dominant (8), corneal dystrophy, reis-bucklers type (8), malignant melanoma, somatic* (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -17.3040-0.432 Picture PostScript Text
3' UTR -22.0094-0.234 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR021594 - Telomere_Pot1

Pfam Domains:
PF10341 - Shelterin complex subunit, TPP1/ACD

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2I46 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q96AP0
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0042162 telomeric DNA binding
GO:0044877 macromolecular complex binding
GO:0070182 DNA polymerase binding

Biological Process:
GO:0000723 telomere maintenance
GO:0006886 intracellular protein transport
GO:0016233 telomere capping
GO:0031848 protection from non-homologous end joining at telomere
GO:0032202 telomere assembly
GO:0032211 negative regulation of telomere maintenance via telomerase
GO:0032212 positive regulation of telomere maintenance via telomerase
GO:0051973 positive regulation of telomerase activity
GO:0060381 positive regulation of single-stranded telomeric DNA binding
GO:0070198 protein localization to chromosome, telomeric region
GO:0070200 establishment of protein localization to telomere

Cellular Component:
GO:0000781 chromosome, telomeric region
GO:0000783 nuclear telomere cap complex
GO:0000784 nuclear chromosome, telomeric region
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0016604 nuclear body
GO:0070187 telosome


-  Descriptions from all associated GenBank mRNAs
  LF208279 - JP 2014500723-A/15782: Polycomb-Associated Non-Coding RNAs.
AF070535 - Homo sapiens clone 24432 mRNA sequence.
LF374106 - JP 2014500723-A/181609: Polycomb-Associated Non-Coding RNAs.
AK023726 - Homo sapiens cDNA FLJ13664 fis, clone PLACE1011649.
BC016904 - Homo sapiens adrenocortical dysplasia homolog (mouse), mRNA (cDNA clone MGC:21034 IMAGE:4400396), complete cds.
AK125623 - Homo sapiens cDNA FLJ43635 fis, clone SPLEN2037580.
JD100355 - Sequence 81379 from Patent EP1572962.
AY502940 - Homo sapiens POT1 and TIN2 interacting protein (PTOP) mRNA, complete cds.
KJ899494 - Synthetic construct Homo sapiens clone ccsbBroadEn_08888 ACD gene, encodes complete protein.
AK301090 - Homo sapiens cDNA FLJ56639 complete cds, highly similar to Adrenocortical dysplasia protein.
MA443856 - JP 2018138019-A/15782: Polycomb-Associated Non-Coding RNAs.
MA609683 - JP 2018138019-A/181609: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96AP0 (Reactome details) participates in the following event(s):

R-HSA-176700 Incorporation Of Extended And Processed Telomere End Into Higher Order T-Loop And Associated Protein Structure
R-HSA-181450 Incorporation Of Extended And Processed Telomere End Into Associated Protein Structure
R-HSA-171306 Packaging Of Telomere Ends
R-HSA-2559586 DNA Damage/Telomere Stress Induced Senescence
R-HSA-1221632 Meiotic synapsis
R-HSA-157579 Telomere Maintenance
R-HSA-2559583 Cellular Senescence
R-HSA-1500620 Meiosis
R-HSA-73886 Chromosome Maintenance
R-HSA-2262752 Cellular responses to stress
R-HSA-1474165 Reproduction
R-HSA-1640170 Cell Cycle
R-HSA-8953897 Cellular responses to external stimuli

-  Other Names for This Gene
  Alternate Gene Symbols: A0A0C4DGT6, ACD , ACD_HUMAN, ENST00000620761.1, ENST00000620761.2, ENST00000620761.3, ENST00000620761.4, ENST00000620761.5, NM_001082486, PIP1 , PTOP , Q562H5, Q96AP0, Q9H8F9, TINT1, TPP1, uc327tfr.1, uc327tfr.2
UCSC ID: ENST00000620761.6_16
RefSeq Accession: NM_001082486.2
Protein: Q96AP0 (aka ACD_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ACD:
dkc (Dyskeratosis Congenita and Related Telomere Biology Disorders)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.