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ADCK1

From Wikipedia, the free encyclopedia
ADCK1
Identifiers
AliasesADCK1, aarF domain containing kinase 1
External IDsOMIM: 620399; MGI: 1919363; HomoloGene: 6493; GeneCards: ADCK1; OMA:ADCK1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 14: 77.8 – 77.94 MbChr 12: 88.33 – 88.43 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

ADCK1 (aarF domain containing kinase 1) is an enzyme that in humans is encoded by the ADCK1 gene. It is situated on chromosome 14 at the q24.3 location.

Function

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ADCK1 is predicted to possess ATP binding activity and protein serine/threonine kinase activity. It is involved in the negative regulation of mitochondrial fusion and the positive regulation of cristae formation within mitochondria. The protein is thought to be located predominantly in the mitochondrial inner membrane and may act as an integral component of the mitochondrial membrane.[5]

Genomic context

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The ADCK1 gene is located on chromosome 14q24.3. The genomic sequence spans 134,905 base pairs from 77,800,109 to 77,935,014 on the GRCh38.p14 primary assembly. It consists of 17 exons.[5]

Expression

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ADCK1 is ubiquitously expressed across various human tissues, with notable expression in the brain and thyroid, among others.[5]

Clinical significance

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Research indicates that ADCK1 may have therapeutic implications in diseases such as osteosarcoma and colon cancer.[6] It has been observed to activate the beta-catenin/TCF signaling pathway, to promote the growth and migration of cancer cells.[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000063761Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021044Ensembl, 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.
  5. ^ a b c "ADCK1 aarF domain containing kinase 1 [Homo sapiens (human)] - Gene". NCBI. Retrieved 2024-04-27.
  6. ^ Zhuo, BB; Zhu, LQ; Yao, C; Wang, XH; Li, SX; Wang, R; Li, Y; Ling, ZY (12 November 2022). "ADCK1 is a potential therapeutic target of osteosarcoma". Cell Death & Disease. 13 (11): 954. doi:10.1038/s41419-022-05401-8. PMC 9653483. PMID 36371387.
  7. ^ Ji, Y; Liu, Y; Sun, C; Yu, L; Wang, Z; Du, X; Yang, W; Zhang, C; Tao, C; Wang, J; Yang, X; Di, S; Huang, Y (6 April 2021). "ADCK1 activates the β-catenin/TCF signaling pathway to promote the growth and migration of colon cancer cells". Cell Death & Disease. 12 (4): 354. doi:10.1038/s41419-021-03624-9. PMC 8024291. PMID 33824271.