ACD

ACD
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2I46
Dynodwyr
Cyfenwau	ACD, PIP1, PTOP, TINT1, TPP1, adrenocortical dysplasia homolog, shelterin complex subunit and telomerase recruitment factor, ACD shelterin complex subunit and telomerase recruitment factor
Dynodwyr allanol	OMIM: 609377 HomoloGene: 23391 GeneCards: ACD
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • DNA binding • telomeric DNA binding • DNA polymerase binding • GO:0001948, GO:0016582 protein binding • GO:0032403 protein-containing complex binding Cydrannau o'r gell • nuclear telomere cap complex • Cromosom • telomere • cnewyllyn cell • nucleoplasm • nuclear body • shelterin complex Prosesau biolegol • skeletal system development • positive regulation of single-stranded telomeric DNA binding • protection from non-homologous end joining at telomere • protein localization to chromosome, telomeric region • embryonic limb morphogenesis • establishment of protein localization to telomere • urogenital system development • intracellular protein transport • telomere assembly • segmentation • telomere maintenance • telomere capping • negative regulation of telomere maintenance via telomerase • positive regulation of telomere maintenance via telomerase • positive regulation of telomerase activity • mitotic telomere maintenance via semi-conservative replication • telomere-telomerase complex assembly Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	65057	n/a
Ensembl	ENSG00000102977	n/a
UniProt	Q96AP0	n/a
RefSeq (mRNA)	NM_001082486 NM_001082487 NM_022914	n/a
RefSeq (protein)	NP_001075955 NP_075065	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn ACD yw ACD a elwir hefyd yn ACD, shelterin complex subunit and telomerase recruitment factor (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 16, band 16q22.1.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn ACD.

• PIP1
• PTOP
• TPP1
• TINT1

Llyfryddiaeth

• "Inside the mammalian telomere interactome: regulation and regulatory activities of telomeres. ". Crit Rev Eukaryot Gene Expr. 2006. PMID 16749892.
• "IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene. ". Mol Genet Metab. 2006. PMID 16504561.
• "A novel somatic mutation in ACD induces telomere lengthening and apoptosis resistance in leukemia cells. ". BMC Cancer. 2015. PMID 26345285.
• "Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. ". Blood. 2014. PMID 25205116.
• "Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.". Clin Endocrinol (Oxf). 2007. PMID 17466001.