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Aliases for ACD Gene

Aliases for ACD Gene

  • ACD, Shelterin Complex Subunit And Telomerase Recruitment Factor 2 3
  • POT1 And TIN2-Interacting Protein 3 4
  • Adrenocortical Dysplasia Homolog 3 5
  • TIN2 Interacting Protein 1 2 3
  • TINT1 3 4
  • PIP1 3 4
  • PTOP 3 4
  • TPP1 3 4
  • Adrenocortical Dysplasia Homolog (Mouse) 2
  • Adrenocortical Dysplasia Protein Homolog 3
  • POT1 And TIN2 Organizing Protein 2

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 (ACD, Shelterin Complex Subunit And Telomerase Recruitment Factor) is a Protein Coding gene. Diseases associated with ACD include Dyskeratosis Congenita, Autosomal Dominant 6 and Acd-Related Dyskeratosis Congenita. Among its related pathways are Chromosome Maintenance and Cellular Senescence. GO annotations related to this gene include 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 recruiting telomerase to telomeres and increasing its processivity. 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

Enhancers for ACD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F067550 1.1 Ensembl ENCODE 32 +106.7 106682 6.3 ZFP64 ZNF493 ZNF121 KLF7 FOS ZNF202 ZNF263 REST ZNF518A ZNF623 ZDHHC1 ENSG00000260465 CENPT E2F4 ENKD1 ENSG00000263276 ACD ENSG00000270165 FBXL8 KIAA0895L
GH16F067479 1.1 FANTOM5 ENCODE 24.8 +178.8 178763 5.0 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ATP6V0D1 ZDHHC1 ACD FAM65A SLC7A6OS CARMIL2 C16orf86 ENKD1 ENSG00000259797 HSD11B2
GH16F067992 1.3 FANTOM5 ENCODE 21.9 -334.1 -334064 4.1 HDGF PKNOX1 CREB3L1 SIN3A ARID4B DMAP1 ZNF2 ZNF143 ZNF207 ZNF263 PRMT7 ACD DDX28 ZDHHC1 KIAA0895L RNU6-359P SLC12A4 LCAT DPEP2 DUS2
GH16F067520 0.9 Ensembl ENCODE 20.8 +139.4 139383 1.6 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZDHHC1 ENSG00000260465 CENPT ENKD1 E2F4 ENSG00000263276 FBXL8 KIAA0895L PLEKHG4 ACD
GH16F067987 0.9 Ensembl ENCODE 20.7 -326.8 -326828 1.0 ELF3 ZFP64 ZNF493 ARID4B ZNF48 RAD21 KLF7 ZNF680 REST ZNF518A ZDHHC1 FBXL8 CENPT E2F4 ENKD1 KIAA0895L ACD ENSG00000263276 PSKH1 PLEKHG4
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ACD on UCSC Golden Path with GeneCards custom track

Promoters for ACD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000509023 315 2201 PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 SP3 SP5

Genomic Location for ACD Gene

Chromosome:
16
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

Genes around ACD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for ACD Gene

  • Ubiquitination at Lys 492
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ACD (ACD)
  • Abcam antibodies for ACD
  • Santa Cruz Biotechnology (SCBT) Antibodies for ACD

No data available for DME Specific Peptides for ACD Gene

Domains & Families for ACD Gene

Gene Families 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 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 recruiting telomerase to telomeres and increasing its processivity. 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 15181449
GO:0042162 telomeric DNA binding IDA 23685356
GO:0044877 macromolecular complex binding IPI 25172512
GO:0070182 DNA polymerase binding TAS 25467444
genes like me logo Genes that share ontologies with ACD: view
genes like me logo Genes that share phenotypes with ACD: view

Human Phenotype Ontology for ACD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACD Gene

MGI Knock Outs for ACD:

Animal Model Products

miRNA for ACD Gene

miRTarBase miRNAs that target ACD

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 3
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ACD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IEA --
GO:0000783 nuclear telomere cap complex IDA 16880378
GO:0000784 nuclear chromosome, telomeric region IDA 15380063
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with ACD: view

Pathways & Interactions for ACD Gene

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

Pathways by source for ACD Gene

SIGNOR curated interactions for ACD Gene

Activates:

Gene Ontology (GO) - Biological Process for ACD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance IDA 15181449
GO:0001501 skeletal system development IEA --
GO:0001655 urogenital system development IEA --
GO:0006886 intracellular protein transport IMP 15181449
GO:0007004 telomere maintenance via telomerase TAS 25467444
genes like me logo Genes that share ontologies with ACD: view

Drugs & Compounds for ACD Gene

(1) Additional Compounds for ACD Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for ACD Gene

Protein differential expression in normal tissues from HIPED for ACD Gene

This gene is overexpressed in Fetal testis (21.5), Peripheral blood mononuclear cells (15.0), Blymphocyte (13.9), and CD8 Tcells (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACD Gene



Protein tissue co-expression partners for ACD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACD Gene:

ACD

SOURCE GeneReport for Unigene cluster for ACD Gene:

Hs.78019
genes like me logo Genes that share expression patterns with ACD: view

Primer Products

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 34 35
  • 98.78 (n)
dog
(Canis familiaris)
Mammalia ACD 34 35
  • 82.53 (n)
cow
(Bos Taurus)
Mammalia ACD 34 35
  • 80.48 (n)
mouse
(Mus musculus)
Mammalia Acd 34 16 35
  • 76 (n)
rat
(Rattus norvegicus)
Mammalia Acd 34
  • 75.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACD 35
  • 40 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACD 35
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACD 35
  • 21 (a)
OneToOne
Species where no ortholog for ACD was found in the sources mined by GeneCards:
  • 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
rs201441120 Dyskeratosis congenita, autosomal recessive, 7 (DKCB7) [MIM:616553], Pathogenic 67,657,847(+) CTTTG(G/T)GGGTT intron-variant, downstream-variant-500B, reference, missense
rs797045144 Pathogenic 67,659,786(-) AGGAG(-/AAG)GAGTT nc-transcript-variant, upstream-variant-2KB, cds-indel
rs1050346 -- 67,657,647(-) ACTTT(C/T)TGATG downstream-variant-500B, reference, synonymous-codon
rs111965137 -- 67,658,843(+) GGACA(A/G)GCCCG intron-variant
rs112011416 -- 67,657,370(+) CAGCC(C/T)TGACC intron-variant, downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv522852 CNV gain 19592680
nsv524363 CNV loss 19592680
nsv952046 CNV deletion 24416366

Variation tolerance for ACD Gene

Residual Variation Intolerance Score: 23% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.33; 26.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACD Gene

Human Gene Mutation Database (HGMD)
ACD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACD

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

Disorders for ACD Gene

MalaCards: The human disease database

(8) MalaCards diseases for ACD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dyskeratosis congenita, autosomal dominant 6
  • dyskeratosis congenita, autosomal recessive 7
acd-related dyskeratosis congenita
  • dyskeratosis congenita, autosomal dominant 6
dyskeratosis congenita
  • zinsser-cole-engman syndrome
dyskeratosis congenita autosomal recessive
  • autosomal recessive dyskeratosis congenita
corneal dystrophy, congenital stromal
  • congenital stromal corneal dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search ACD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACD_HUMAN
  • Dyskeratosis congenita, autosomal dominant, 6 (DKCA6) [MIM:616553]: A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269 PubMed:25205116}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dyskeratosis congenita, autosomal recessive, 7 (DKCB7) [MIM:616553]: A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269 PubMed:25233904}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ACD

Genetic Association Database (GAD)
ACD
Human Genome Epidemiology (HuGE) Navigator
ACD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACD
genes like me logo Genes that share disorders with ACD: view

No data available for Genatlas 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 22 64
  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 22 64
  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 22 64
  4. Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins. (PMID: 15383534) Liu D. … Songyang Z. (J. Biol. Chem. 2004) 3 4 22 64
  5. Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. (PMID: 25205116) Guo Y. … Bryan T.M. (Blood 2014) 3 4 64

Products for ACD Gene

Sources for ACD Gene

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