ADNP (gene)

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

ADNP
Identifiers
Aliases	ADNP, ADNP1, MRD28, HVDAS, activity-dependent neuroprotector homeobox, activity dependent neuroprotector homeobox
External IDs	OMIM: 611386 MGI: 1338758 HomoloGene: 7617 GeneCards: ADNP
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q13.13 Start 50,888,916 bp[1] End 50,931,437 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 H3 Start 168,180,986 bp[2] End 168,207,112 bp[2]
Gene ontology Molecular function • DNA binding • peptide binding • chromatin binding • metal ion binding • GO:0001948 protein binding • copper ion binding • nucleic acid binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific • beta-tubulin binding Cellular component • cytoplasm • axon • neuronal cell body • dendrite • cell nucleus • extracellular Biological process • cellular response to extracellular stimulus • negative regulation of neuron apoptotic process • regulation of protein ADP-ribosylation • regulation of transcription, DNA-templated • estrous cycle • nitric oxide homeostasis • negative regulation of synaptic transmission • negative regulation of protein binding • negative regulation of gene expression • transcription, DNA-templated • short-term memory • response to inorganic substance • positive regulation of neuron projection development • positive regulation of peptidyl-tyrosine phosphorylation • positive regulation of axon extension • response to carbohydrate • activation of protein kinase activity • positive regulation of synapse assembly • regulation of transcription from RNA polymerase II promoter • cGMP-mediated signaling Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	23394	11538
Ensembl	ENSG00000101126	ENSMUSG00000051149
UniProt	Q9H2P0	Q9Z103
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 Mb	Chr 2: 168.18 – 168.21 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[5]

Clinical significance

Mutations in ADNP cause autism.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000101126 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000051149 - Ensembl, 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. "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 3990853. PMID 24531329.

External links

• Human ADNP genome location and ADNP gene details page in the UCSC Genome Browser.

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. S2CID 28533690.
• 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. S2CID 17185333.
• 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. S2CID 7389788.
• 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.