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Aliases for ACD Gene

Aliases for ACD Gene

  • Adrenocortical Dysplasia Homolog (Mouse) 2 3
  • TINT1 3 4 6
  • PIP1 3 4 6
  • PTOP 3 4 6
  • POT1 And TIN2-Interacting Protein 3 4
  • POT1 And TIN2 Organizing Protein 2 3
  • TIN2 Interacting Protein 1 2 3
  • TPP1 3 4
  • Adrenocortical Dysplasia Protein Homolog 3

External Ids for ACD Gene

Previous GeneCards Identifiers for ACD Gene

  • GC16M066249
  • GC16M053564

Summaries for ACD Gene

Entrez Gene Summary for ACD Gene

  • 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]

GeneCards Summary for ACD Gene

ACD (Adrenocortical Dysplasia Homolog (Mouse)) is a Protein Coding gene. Diseases associated with ACD include hereditary isolated aplastic anemia and dyskeratosis congenita. Among its related pathways are Cell Cycle, Mitotic and Lysosome. GO annotations related to this gene include telomeric DNA binding and DNA polymerase binding.

UniProtKB/Swiss-Prot for ACD Gene

  • 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.

Gene Wiki entry for ACD Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACD Gene

Genomics for ACD Gene

Regulatory Elements for ACD Gene

Genomic Location for ACD Gene

Start:
67,657,512 bp from pter
End:
67,660,815 bp from pter
Size:
3,304 bases
Orientation:
Minus strand

Genomic View for ACD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACD Gene

Proteins for ACD Gene

  • Protein details for ACD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96AP0-ACD_HUMAN
    Recommended name:
    Adrenocortical dysplasia protein homolog
    Protein Accession:
    Q96AP0
    Secondary Accessions:
    • Q562H5
    • Q9H8F9

    Protein attributes for ACD Gene

    Size:
    544 amino acids
    Molecular mass:
    57733 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAX82621.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ACD Gene

    Alternative splice isoforms for ACD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACD Gene

Proteomics data for ACD Gene at MOPED

Post-translational modifications for ACD Gene

  • Ubiquitination at Lys492
  • Modification sites at PhosphoSitePlus

Other Protein References for ACD Gene

No data available for DME Specific Peptides for ACD Gene

Domains for ACD Gene

Protein Domains for ACD Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ACD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ACD: view

No data available for Gene Families and UniProtKB/Swiss-Prot for ACD Gene

Function for ACD Gene

Molecular function for ACD Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for ACD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 15231715
GO:0070182 DNA polymerase binding IPI 17237767
genes like me logo Genes that share ontologies with ACD: view
genes like me logo Genes that share phenotypes with ACD: view

Animal Models for ACD Gene

MGI Knock Outs for ACD:

miRNA for ACD Gene

miRTarBase miRNAs that target ACD

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for ACD Gene

Localization for ACD Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACD Gene

Nucleus. Chromosome, telomere.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACD Gene COMPARTMENTS Subcellular localization image for ACD gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ACD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IDA 15380063
GO:0000783 nuclear telomere cap complex IDA 16880378
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with ACD: view

Pathways for ACD Gene

genes like me logo Genes that share pathways with ACD: view

Pathways by source for ACD Gene

Gene Ontology (GO) - Biological Process for ACD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance TAS --
GO:0001501 skeletal system development IEA --
GO:0001655 urogenital system development IEA --
GO:0006886 intracellular protein transport IMP 15181449
GO:0016233 telomere capping NAS 17237767
genes like me logo Genes that share ontologies with ACD: view

Compounds for ACD Gene

(1) Novoseek inferred chemical compound relationships for ACD Gene

Compound -log(P) Hits PubMed IDs
tin(2+) 98.1 13
genes like me logo Genes that share compounds with ACD: view

Transcripts for ACD Gene

Unigene Clusters for ACD Gene

Adrenocortical dysplasia homolog (mouse):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ACD Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h · 1i ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^
SP1: - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - - -
SP5: - -
SP6: - - -
SP7: - - -
SP8: - - -
SP9: - - - - -
SP10: - -
SP11: -
SP12: -
SP13:

ExUns: 10a · 10b ^ 11 ^ 12
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for ACD Gene

GeneLoc Exon Structure for
ACD
ECgene alternative splicing isoforms for
ACD

Expression for ACD Gene

mRNA expression in normal human tissues for ACD Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ACD Gene

SOURCE GeneReport for Unigene cluster for ACD Gene Hs.78019

genes like me logo Genes that share expressions with ACD: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ACD Gene

Orthologs for ACD Gene

This gene was present in the common ancestor of chordates.

Orthologs for ACD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACD 35
  • 98.78 (n)
  • 98.07 (a)
ACD 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACD 35
  • 80.48 (n)
  • 71.4 (a)
ACD 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACD 35
  • 82.53 (n)
  • 76.43 (a)
ACD 36
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acd 35
  • 76 (n)
  • 64.63 (a)
Acd 16
Acd 36
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACD 36
  • 39 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACD 36
  • 40 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acd 35
  • 75.04 (n)
  • 65.08 (a)
chicken
(Gallus gallus)
Aves ACD 36
  • 21 (a)
OneToOne
Species with no ortholog for ACD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ACD Gene

ENSEMBL:
Gene Tree for ACD (if available)
TreeFam:
Gene Tree for ACD (if available)

Paralogs for ACD Gene

Pseudogenes.org Pseudogenes for ACD Gene

genes like me logo Genes that share paralogs with ACD: view

No data available for Paralogs for ACD Gene

Variants for ACD Gene

Sequence variations from dbSNP and Humsavar for ACD Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs34097817 -- 67,658,638(+) GCTCA(A/G)GGCCT reference, missense, intron-variant, nc-transcript-variant
rs57602171 -- 67,658,860(+) CTCAT(A/G)TCCTG intron-variant
rs72547495 - 67,658,929(-) GGCCA(C/T)GGTCA reference, missense, nc-transcript-variant
rs72549180 -- 67,658,470(-) TGCAC(A/G)GTGGG intron-variant
rs72549181 -- 67,658,583(-) ATAGC(C/T)TCTCC reference, synonymous-codon, intron-variant, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for ACD Gene

Variant ID Type Subtype PubMed ID
nsv524363 CNV Loss 19592680
nsv522852 CNV Gain 19592680
dgv2890n71 CNV Loss 21882294
nsv906809 CNV Loss 21882294
dgv2891n71 CNV Loss 21882294

Relevant External Links for ACD Gene

HapMap Linkage Disequilibrium report
ACD
Human Gene Mutation Database (HGMD)
ACD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACD Gene

Disorders for ACD Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for ACD Gene including...

Search for ACD Gene in MalaCards »

Relevant External Links for ACD

Genetic Association Database (GAD)
ACD
Human Genome Epidemiology (HuGE) Navigator
ACD
genes like me logo Genes that share disorders with ACD: view

No data available for UniProtKB/Swiss-Prot for ACD Gene

Publications for ACD Gene

  1. PTOP interacts with POT1 and regulates its localization to telomeres. (PMID: 15181449) Liu D. … Songyang Z. (Nat. Cell Biol. 2004) 2 3 4 23
  2. POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex. (PMID: 15231715) Ye J.Z.-S. … de Lange T. (Genes Dev. 2004) 2 3 4 23
  3. TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres. (PMID: 15316005) Ye J.Z.-S. … de Lange T. (J. Biol. Chem. 2004) 3 4 23
  4. Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins. (PMID: 15383534) Liu D. … Songyang Z. (J. Biol. Chem. 2004) 3 4 23
  5. A dynamic molecular link between the telomere length regulator TRF1 and the chromosome end protector TRF2. (PMID: 15380063) Houghtaling B.R. … Smith S. (Curr. Biol. 2004) 3 23

Products for ACD Gene

Sources for ACD Gene

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