ACD | ENSG00000102977 | NCBI 65057

Details for: ACD

Gene ID: 65057

Symbol: ACD

Ensembl ID: ENSG00000102977

Description: ACD shelterin complex subunit and telomerase recruitment factor

Associated with

Base-excision repair, ap site formation
(R-HSA-73929)
Base excision repair
(R-HSA-73884)
Cell cycle
(R-HSA-1640170)
Cellular responses to stimuli
(R-HSA-8953897)
Cellular responses to stress
(R-HSA-2262752)
Cellular senescence
(R-HSA-2559583)
Chromosome maintenance
(R-HSA-73886)
Cleavage of the damaged purine
(R-HSA-110331)
Cleavage of the damaged pyrimidine
(R-HSA-110329)
Depurination
(R-HSA-73927)
Depyrimidination
(R-HSA-73928)
Dna damage/telomere stress induced senescence
(R-HSA-2559586)
Dna repair
(R-HSA-73894)
Extension of telomeres
(R-HSA-180786)
Inhibition of dna recombination at telomere
(R-HSA-9670095)
Meiosis
(R-HSA-1500620)
Meiotic synapsis
(R-HSA-1221632)
Packaging of telomere ends
(R-HSA-171306)
Polymerase switching on the c-strand of the telomere
(R-HSA-174411)
Processive synthesis on the c-strand of the telomere
(R-HSA-174414)
Recognition and association of dna glycosylase with site containing an affected purine
(R-HSA-110330)
Recognition and association of dna glycosylase with site containing an affected pyrimidine
(R-HSA-110328)
Removal of the flap intermediate from the c-strand
(R-HSA-174437)
Reproduction
(R-HSA-1474165)
Telomere c-strand (lagging strand) synthesis
(R-HSA-174417)
Telomere c-strand synthesis initiation
(R-HSA-174430)
Telomere extension by telomerase
(R-HSA-171319)
Chromosome, telomeric region
(GO:0000781)
Dna polymerase binding
(GO:0070182)
Embryonic limb morphogenesis
(GO:0030326)
Establishment of protein localization to telomere
(GO:0070200)
Intracellular protein transport
(GO:0006886)
Negative regulation of telomere maintenance via telomerase
(GO:0032211)
Nuclear body
(GO:0016604)
Nuclear telomere cap complex
(GO:0000783)
Nucleoplasm
(GO:0005654)
Positive regulation of single-stranded telomeric dna binding
(GO:0060381)
Positive regulation of telomerase activity
(GO:0051973)
Positive regulation of telomere maintenance
(GO:0032206)
Positive regulation of telomere maintenance via telomerase
(GO:0032212)
Protection from non-homologous end joining at telomere
(GO:0031848)
Protein-containing complex binding
(GO:0044877)
Protein binding
(GO:0005515)
Protein localization to chromosome, telomeric region
(GO:0070198)
Segmentation
(GO:0035282)
Shelterin complex
(GO:0070187)
Skeletal system development
(GO:0001501)
Telomerase holoenzyme complex
(GO:0005697)
Telomere assembly
(GO:0032202)
Telomere capping
(GO:0016233)
Telomere maintenance
(GO:0000723)
Telomere maintenance via telomerase
(GO:0007004)
Telomeric dna binding
(GO:0042162)
Urogenital system development
(GO:0001655)

Other Information

Proteins

POT1 and TIN2-interacting protein

Genular Protein ID: 1362440925

Symbol: ACD_HUMAN

Name: POT1 and TIN2-interacting protein

UniProtKB Accession Codes:

Q96AP0 A0A0C4DGT6 Q562H5 Q9H8F9

Database IDs:

Citations:

PubMed ID: 15181449

Title: PTOP interacts with POT1 and regulates its localization to telomeres.

PubMed ID: 15181449

DOI: 10.1038/ncb1142

PubMed ID: 15537664

Title: Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulator.

PubMed ID: 15537664

DOI: 10.1093/hmg/ddi011

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15231715

Title: POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex.

PubMed ID: 15231715

DOI: 10.1101/gad.1215404

PubMed ID: 15316005

Title: TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres.

PubMed ID: 15316005

DOI: 10.1074/jbc.m409047200

PubMed ID: 15383534

Title: Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins.

PubMed ID: 15383534

DOI: 10.1074/jbc.m409293200

PubMed ID: 16166375

Title: Shelterin: the protein complex that shapes and safeguards human telomeres.

PubMed ID: 16166375

DOI: 10.1101/gad.1346005

PubMed ID: 16880378

Title: A critical role for TPP1 and TIN2 interaction in high-order telomeric complex assembly.

PubMed ID: 16880378

DOI: 10.1073/pnas.0605303103

PubMed ID: 18220336

Title: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.

PubMed ID: 18220336

DOI: 10.1021/pr0705441

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19648609

Title: OB fold-containing protein 1 (OBFC1), a human homolog of yeast Stn1, associates with TPP1 and is implicated in telomere length regulation.

PubMed ID: 19648609

DOI: 10.1074/jbc.m109.021105

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20231318

Title: Functional interaction between telomere protein TPP1 and telomerase.

PubMed ID: 20231318

DOI: 10.1101/gad.1881810

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25205116

Title: Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.

PubMed ID: 25205116

DOI: 10.1182/blood-2014-08-596445

PubMed ID: 25233904

Title: Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.

PubMed ID: 25233904

DOI: 10.1101/gad.248567.114

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 17237768

Title: The POT1-TPP1 telomere complex is a telomerase processivity factor.

PubMed ID: 17237768

DOI: 10.1038/nature05454

Sequence Information:

Length: 458
Mass: 48967
Checksum: 6EA98FFC753E9A10
Sequence:

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV 
SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQVAEG GAPAEFYLQV 
DRFSLLPTEQ PRLRVPGCNQ DLDVQKKLYD CLEEHLSEST SSNAGLSLSQ LLDEMREDQE 
HQGALVCLAE SCLTLEGPCT APPVTHWAAS RCKATGEAVY TVPSSMLCIS ENDQLILSSL 
GPCQRTQGPE LPPPDPALQD LSLTLIASPP SSPSSSGTPA LPGHMSSEES GTSISLLPAL 
SLAAPDPGQR SSSQPSPAIC SAPATLTPRS PHASRTPSSP LQSCTPSLSP RSHVPSPHQA 
LVTRPQKPSL EFKEFVGLPC KNRPPFPRTG ATRGAQEPCS VWEPPKRHRD GSAFQYEYEP 
PCTSLCARVQ AVRLPPQLMA WALHFLMDAQ PGSEPTPM

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: ACD

Associated with

Other Information

PTOP interacts with POT1 and regulates its localization to telomeres. PubMed ID: 15181449

Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulator. PubMed ID: 15537664

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The sequence and analysis of duplication-rich human chromosome 16. PubMed ID: 15616553

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex. PubMed ID: 15231715

TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres. PubMed ID: 15316005

Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins. PubMed ID: 15383534

Shelterin: the protein complex that shapes and safeguards human telomeres. PubMed ID: 16166375

A critical role for TPP1 and TIN2 interaction in high-order telomeric complex assembly. PubMed ID: 16880378

Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis. PubMed ID: 18220336

A quantitative atlas of mitotic phosphorylation. PubMed ID: 18669648

Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. PubMed ID: 19413330

OB fold-containing protein 1 (OBFC1), a human homolog of yeast Stn1, associates with TPP1 and is implicated in telomere length regulation. PubMed ID: 19648609

Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. PubMed ID: 19690332

Functional interaction between telomere protein TPP1 and telomerase. PubMed ID: 20231318

Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. PubMed ID: 20068231

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. PubMed ID: 25205116

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. PubMed ID: 25233904

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. PubMed ID: 28112733

The POT1-TPP1 telomere complex is a telomerase processivity factor. PubMed ID: 17237768