ADNP (gene)

Activity-dependent neuroprotector homeobox
Identifiers
Symbols	ADNP ; ADNP1; HVDAS; MRD28
External IDs	OMIM: 611386 HomoloGene: 7617 GeneCards: ADNP Gene
Gene ontology Molecular function • DNA binding • chromatin binding • copper ion binding • protein binding • peptide binding • beta-tubulin binding Cellular component • extracellular space • nucleus • cytoplasm • axon • dendrite • neuronal cell body Biological process • transcription, DNA-templated • regulation of transcription, DNA-templated • short-term memory • response to carbohydrate • response to inorganic substance • negative regulation of gene expression • regulation of protein ADP-ribosylation • positive regulation of cGMP biosynthetic process • cellular response to extracellular stimulus • negative regulation of protein binding • activation of protein kinase activity • nitric oxide homeostasis • negative regulation of neuron apoptotic process • estrous cycle • positive regulation of axon extension • positive regulation of peptidyl-tyrosine phosphorylation • negative regulation of synaptic transmission • positive regulation of synapse assembly Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	23394	11538
Ensembl	ENSG00000101126	ENSMUSG00000051149
UniProt	Q9H2P0	n/a
RefSeq (mRNA)	NM_001282531	NM_001310086
RefSeq (protein)	NP_001269460	NP_001297015
Location (UCSC)	Chr 20: 50.89 – 50.93 Mb	Chr 2: 168.18 – 168.21 Mb
PubMed search

Activity-dependent neuroprotector homeobox is a protein that in humans is encoded by the ADNP gene.^[1]

Function

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.^[1]

Clinical aspects

Mutations in ADNP cause autism .^[2]

References

1. "Entrez Gene: Activity-dependent neuroprotector homeobox". Retrieved 2014-05-20.
2. 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 3990853. PMID 24531329.

Further reading

• 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 3701887. 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.