ACD report

I. Expression across cell types

Insufficient scRNA-seq data for expression of ACD at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of ACD at tissue level.

III. Associated gene sets

GO_0031848Biological processprotection from non-homologous end joining at telomere
GO_0001655Biological processurogenital system development
GO_0006886Biological processintracellular protein transport
GO_0032202Biological processtelomere assembly
GO_0060381Biological processpositive regulation of single-stranded telomeric DNA binding
GO_0032211Biological processnegative regulation of telomere maintenance via telomerase
GO_0016233Biological processtelomere capping
GO_0070198Biological processprotein localization to chromosome, telomeric region
GO_0032206Biological processpositive regulation of telomere maintenance
GO_0030326Biological processembryonic limb morphogenesis
GO_0051973Biological processpositive regulation of telomerase activity
GO_0000723Biological processtelomere maintenance
GO_0001501Biological processskeletal system development
GO_0035282Biological processsegmentation
GO_0070200Biological processestablishment of protein localization to telomere
GO_0032212Biological processpositive regulation of telomere maintenance via telomerase
GO_0007004Biological processtelomere maintenance via telomerase
GO_0000783Cellular componentnuclear telomere cap complex
GO_0005654Cellular componentnucleoplasm
GO_0005697Cellular componenttelomerase holoenzyme complex
GO_0016604Cellular componentnuclear body
GO_0000781Cellular componentchromosome, telomeric region
GO_0070187Cellular componentshelterin complex
GO_0070182Molecular functionDNA polymerase binding
GO_0044877Molecular functionprotein-containing complex binding
GO_0042162Molecular functiontelomeric DNA binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameACD
Protein nameAdrenocortical dysplasia protein homolog (POT1 and TIN2-interacting protein)
ACD shelterin complex subunit and telomerase recruitment factor
SynonymsPIP1
TPP1
PTOP
TINT1
DescriptionFUNCTION: 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. .

AccessionsENST00000219251.13 [Q96AP0-2]
ENST00000602850.6
A0A8Q3WM19
ENST00000695659.1
R4GNJ5
ENST00000695713.1
A0A8Q3WKP4
R4GMR6
ENST00000695712.1
A0A8Q3SI54
ENST00000602320.1
ENST00000695733.1
A0A8Q3SHY1
A0A8Q3SI48
A0A8Q3WKN9
A0A8Q3WKU3
A0A8Q3SHZ0
Q96AP0
ENST00000695734.1
A0A8Q3SI14
ENST00000695650.1
ENST00000695697.1
A0A8Q3WM11
ENST00000620761.6 [Q96AP0-3]
ENST00000695662.1
ENST00000695731.1
ENST00000695711.1
A0A8Q3WKP5
A0A8Q3SHY4
ENST00000695661.1
A0A8Q3WLT1
ENST00000695732.1
ENST00000602382.6
ENST00000695694.1
A0A8Q3SI32
ENST00000695736.1
ENST00000695648.1
R4GND4
A0A8Q3WLR8
ENST00000695658.1