Adrenocortical dysplasia protein homolog

ACD
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2I46
Identifiers
Aliases	ACD, PIP1, PTOP, TINT1, TPP1, adrenocortical dysplasia homolog, shelterin complex subunit and telomerase recruitment factor, ACD shelterin complex subunit and telomerase recruitment factor
External IDs	OMIM: 609377; MGI: 87873; HomoloGene: 23391; GeneCards: ACD; OMA:ACD - orthologs
Gene location (Human)
Chr.	Chromosome 16 (human)
End	67,660,810 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	106,427,734 bp
RNA expression pattern
	Top expressed in
	right hemisphere of cerebellum; ; oocyte; ; secondary oocyte; ; pituitary gland; ; anterior pituitary; ; left ovary; ; right frontal lobe; ; right ovary; ; right testis; ; granulocyte;
	Top expressed in
	zygote; ; secondary oocyte; ; ventricular zone; ; blastocyst; ; primary oocyte; ; ganglionic eminence; ; thymus; ; neural tube; ; right kidney; ; superior frontal gyrus;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	DNA binding; telomeric DNA binding; DNA polymerase binding; protein binding; protein-containing complex binding;
Cellular component	nuclear telomere cap complex; chromosome; telomere; nucleus; nucleoplasm; nuclear body; shelterin complex;
Biological process	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
Orthologs
	65057
	497652
	ENSG00000102977
	ENSMUSG00000038000
	Q96AP0
	Q5EE38
	NM_001082486; NM_001082487; NM_022914
	NM_001012638; NM_001348349
	NP_001075955; NP_075065
	NP_001012656; NP_001335278
	Wikidata
View/Edit Human	View/Edit Mouse

Adrenocortical dysplasia protein homolog is a protein that in humans is encoded by the ACD gene.^[5]^[6]^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000102977 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000038000 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Ye JZ, Hockemeyer D, Krutchinsky AN, Loayza D, Hooper SM, Chait BT, de Lange T (July 2004). "POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex". Genes Dev. 18 (14): 1649–54. doi:10.1101/gad.1215404. PMC 478187. PMID 15231715.
^ Liu D, Safari A, O'Connor MS, Chan DW, Laegeler A, Qin J, Songyang Z (July 2004). "PTOP interacts with POT1 and regulates its localization to telomeres". Nat Cell Biol. 6 (7): 673–80. doi:10.1038/ncb1142. PMID 15181449. S2CID 11543383.
^ "Entrez Gene: ACD adrenocortical dysplasia homolog (mouse)".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000102977 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000038000 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid15231715-5] Ye JZ, Hockemeyer D, Krutchinsky AN, Loayza D, Hooper SM, Chait BT, de Lange T (July 2004). "POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex". Genes Dev. 18 (14): 1649–54. doi:10.1101/gad.1215404. PMC 478187. PMID 15231715.

[pmid15181449-6] Liu D, Safari A, O'Connor MS, Chan DW, Laegeler A, Qin J, Songyang Z (July 2004). "PTOP interacts with POT1 and regulates its localization to telomeres". Nat Cell Biol. 6 (7): 673–80. doi:10.1038/ncb1142. PMID 15181449. S2CID 11543383.

[entrez-7] "Entrez Gene: ACD adrenocortical dysplasia homolog (mouse)".

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