ACD
entrez
65057
canonical
uniprot
Q96AP0
canonical
ensembl
ENSG00000102977
resolver
ensp
ENSP00000219251
resolver
ensp
ENSP00000478084
resolver
ensp
ENSP00000512106
resolver
enst
ENST00000695697
resolver
genesymbol
ACD
resolver
genesymbol_syn
PIP1
resolver
genesymbol_syn
PTOP
resolver
genesymbol_syn
TINT1
resolver
genesymbol_syn
TPP1
resolver
hgnc
HGNC:25070
resolver
uniprot
A0A0C4DGT6
resolver
uniprot
A0A8Q3WM11
resolver
uniprot
Q562H5
resolver
uniprot
Q9H8F9
resolver
uniprot_entry
A0A8Q3WM11_HUMAN
resolver
uniprot_entry
ACD_HUMAN
resolver
uniprot_sec
A0A0C4DGT6
resolver
uniprot_sec
Q562H5
resolver
uniprot_sec
Q9H8F9
resolver
amino_acid_sequence
MAGSGRLVLRPWIRELILGSETPSSPRAGQLLEVLQDAEAAVAGPSHAPDTSDVGATLLVSDGTHSVRCLVTREALDTSDWEEKEFGFRGTEGRLLLLQDCGVHVQVAEGGAPAEFYLQVDRFSLLPTEQPRLRVPGCNQDLDVQKKLYDCLEEHLSESTSSNAGLSLSQLLDEMREDQEHQGALVCLAESCLTLEGPCTAPPVTHWAASRCKATGEAVYTVPSSMLCISENDQLILSSLGPCQRTQGPELPPPDPALQDLSLTLIASPPSSPSSSGTPALPGHMSSEESGTSISLLPALSLAAPDPGQRSSSQPSPAICSAPATLTPRSPHASRTPSSPLQSCTPSLSPRSHVPSPHQALVTRPQKPSLEFKEFVGLPCKNRPPFPRTGATRGAQEPCSVWEPPKRHRDGSAFQYEYEPPCTSLCARVQAVRLPPQLMAWALHFLMDAQPGSEPTPM
uniprot
proteins
disease_involvement
DISEASE: 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:25233904}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000269|PubMed:15181449, ECO:0000269|PubMed:16166375, ECO:0000269|PubMed:16880378, ECO:0000269|PubMed:17237768, ECO:0000269|PubMed:20231318, ECO:0000269|PubMed:25205116, ECO:0000269|PubMed:25233904}.
uniprot
proteins
mass_dalton
48967
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15181449
uniprot
proteins
pubmed
15231715
uniprot
proteins
pubmed
15316005
uniprot
proteins
pubmed
15383534
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15537664
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16166375
uniprot
proteins
pubmed
16880378
uniprot
proteins
pubmed
17237768
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19648609
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20231318
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25205116
uniprot
proteins
pubmed
25233904
uniprot
proteins
pubmed
28112733
uniprot
proteins
sequence_length
458
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15181449, ECO:0000269|PubMed:25205116, ECO:0000269|PubMed:25233904}. Chromosome, telomere {ECO:0000269|PubMed:15181449, ECO:0000269|PubMed:25205116, ECO:0000269|PubMed:25233904}.
uniprot
proteins