ADNP (gene)

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ADNP
Identifiers
AliasesADNP, ADNP1, MRD28, HVDAS, activity-dependent neuroprotector homeobox, activity dependent neuroprotector homeobox
External IDsMGI: 1338758 HomoloGene: 7617 GeneCards: ADNP
Gene location (Human)
Chromosome 20 (human)
Chr.Chromosome 20 (human)[1]
Chromosome 20 (human)
Genomic location for ADNP
Genomic location for ADNP
Band20q13.13Start50,888,916 bp[1]
End50,931,421 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001282531
NM_001282532
NM_015339
NM_181442
NM_001347511

NM_009628
NM_001310086
NM_001310088

RefSeq (protein)

NP_001269460
NP_001269461
NP_001334440
NP_056154
NP_852107

NP_001297015
NP_001297017
NP_033758

Location (UCSC)Chr 20: 50.89 – 50.93 MbChr 2: 168.18 – 168.21 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Activity-dependent neuroprotector homeobox is a protein that in humans is encoded by the ADNP gene.[5]

Function[edit]

Vasoactive intestinal peptide is a neuroprotective factor that has a stimulatory effect on the growth of some tumor cells and an inhibitory effect on others. This gene encodes a protein that is upregulated by vasoactive intestinal peptide and may be involved in its stimulatory effect on certain tumor cells. The encoded protein contains one homeobox and nine zinc finger domains, suggesting that it functions as a transcription factor. This gene is also upregulated in normal proliferative tissues. Finally, the encoded protein may increase the viability of certain cell types through modulation of p53 activity. Alternatively spliced transcript variants encoding the same protein have been described.[5]

Clinical aspects[edit]

Mutations in ADNP cause autism .[6]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000101126 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000051149 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ a b "Entrez Gene: Activity-dependent neuroprotector homeobox". Retrieved 2014-05-20. 
  6. ^ Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Annerén G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N (2014). "A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP". Nature Genetics. 46 (4): 380–4. doi:10.1038/ng.2899. PMC 3990853Freely accessible. PMID 24531329. 

External links[edit]

Further reading[edit]

  • Dresner E, Agam G, Gozes I (2011). "Activity-dependent neuroprotective protein (ADNP) expression level is correlated with the expression of the sister protein ADNP2: Deregulation in schizophrenia". European Neuropsychopharmacology. 21 (5): 355–61. doi:10.1016/j.euroneuro.2010.06.004. PMID 20598862. 
  • Aboonq MS, Vasiliou SA, Haddley K, Quinn JP, Bubb VJ (2012). "Activity-dependent neuroprotective protein modulates its own gene expression". Journal of Molecular Neuroscience. 46 (1): 33–9. doi:10.1007/s12031-011-9562-y. PMID 21647709. 
  • Kanková K, Stejskalová A, Pácal L, Tschoplová S, Hertlová M, Krusová D, Izakovicová-Hollá L, Beránek M, Vasků A, Barral S, Ott J (2007). "Genetic risk factors for diabetic nephropathy on chromosomes 6p and 7q identified by the set-association approach". Diabetologia. 50 (5): 990–9. doi:10.1007/s00125-007-0606-3. PMID 17345061. 
  • Zamostiano R, Pinhasov A, Gelber E, Steingart RA, Seroussi E, Giladi E, Bassan M, Wollman Y, Eyre HJ, Mulley JC, Brenneman DE, Gozes I (2001). "Cloning and characterization of the human activity-dependent neuroprotective protein". Journal of Biological Chemistry. 276 (1): 708–14. doi:10.1074/jbc.M007416200. PMID 11013255. 
  • Mandel S, Gozes I (2007). "Activity-dependent neuroprotective protein constitutes a novel element in the SWI/SNF chromatin remodeling complex". Journal of Biological Chemistry. 282 (47): 34448–56. doi:10.1074/jbc.M704756200. PMID 17878164. 
  • Nozawa RS, Nagao K, Masuda HT, Iwasaki O, Hirota T, Nozaki N, Kimura H, Obuse C (2010). "Human POGZ modulates dissociation of HP1α from mitotic chromosome arms through Aurora B activation". Nature Cell Biology. 12 (7): 719–727. doi:10.1038/ncb2075. PMID 20562864. 
  • Yang MH, Yang YH, Lu CY, Jong SB, Chen LJ, Lin YF, Wu SJ, Chu PY, Chung TW, Tyan YC (2012). "Activity-dependent neuroprotector homeobox protein: A candidate protein identified in serum as diagnostic biomarker for Alzheimer's disease". Journal of Proteomics. 75 (12): 3617–29. doi:10.1016/j.jprot.2012.04.017. PMID 22554909. 
  • Braitch M, Kawabe K, Nyirenda M, Gilles LJ, Robins RA, Gran B, Murphy S, Showe L, Constantinescu CS (2010). "Expression of activity-dependent neuroprotective protein in the immune system: Possible functions and relevance to multiple sclerosis". Neuroimmunomodulation. 17 (2): 120–5. doi:10.1159/000258695. PMC 3701887Freely accessible. PMID 19923857. 
  • Rosnoblet C, Vandamme J, Völkel P, Angrand PO (2011). "Analysis of the human HP1 interactome reveals novel binding partners". Biochemical and Biophysical Research Communications. 413 (2): 206–11. doi:10.1016/j.bbrc.2011.08.059. PMID 21888893. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.