ACD (ACD shelterin complex subunit and telomerase recruitment factor)

2007-04-01  

Identity

HGNC
ACD
LOCATION
16q22.1
LOCUSID
65057
ALIAS
PIP1,PTOP,TINT1,TPP1

Other Information

Locus ID:

NCBI: 65057
MIM: 609377
HGNC: 25070
Ensembl: ENSG00000102977

Variants:

dbSNP: 65057
ClinVar: 65057
TCGA: ENSG00000102977
COSMIC: ACD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102977ENST00000219251Q96AP0
ENSG00000102977ENST00000219251A0A3F2YNW4
ENSG00000102977ENST00000602320R4GNJ5
ENSG00000102977ENST00000602382R4GMR6
ENSG00000102977ENST00000602850R4GND4
ENSG00000102977ENST00000620338A0A590TQL1
ENSG00000102977ENST00000620761Q96AP0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Shelterin complexKEGGhsa_M00424
Shelterin complexKEGGM00424
Cell CycleREACTOMER-HSA-1640170
Chromosome MaintenanceREACTOMER-HSA-73886
Telomere MaintenanceREACTOMER-HSA-157579
Packaging Of Telomere EndsREACTOMER-HSA-171306
MeiosisREACTOMER-HSA-1500620
Meiotic synapsisREACTOMER-HSA-1221632
Cellular responses to stressREACTOMER-HSA-2262752
Cellular SenescenceREACTOMER-HSA-2559583
DNA Damage/Telomere Stress Induced SenescenceREACTOMER-HSA-2559586

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
381767342024Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.0
387228332024TPP1 is associated with risk of advanced precursors and cervical cancer survival.0
381767342024Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.0
387228332024TPP1 is associated with risk of advanced precursors and cervical cancer survival.0
366499082023Complex interaction network revealed by mutation of human telomerase 'insertion in fingers' and essential N-terminal domains and the telomere protein TPP1.1
370215552023CTC1 OB-B interaction with TPP1 terminates telomerase and prevents telomere overextension.5
366499082023Complex interaction network revealed by mutation of human telomerase 'insertion in fingers' and essential N-terminal domains and the telomere protein TPP1.1
370215552023CTC1 OB-B interaction with TPP1 terminates telomerase and prevents telomere overextension.5
352019002022Structural basis of human telomerase recruitment by TPP1-POT1.34
354186752022Structure of active human telomerase with telomere shelterin protein TPP1.38
363561432022TPP1 promoter mutations cooperate with TERT promoter mutations to lengthen telomeres in melanoma.6
352019002022Structural basis of human telomerase recruitment by TPP1-POT1.34
354186752022Structure of active human telomerase with telomere shelterin protein TPP1.38
363561432022TPP1 promoter mutations cooperate with TERT promoter mutations to lengthen telomeres in melanoma.6
334465132021Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length.3

Citation

Dessen P

ACD (ACD shelterin complex subunit and telomerase recruitment factor)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46714