ADNP

ADNP
Identifikatori
Aliasi	ADNP
Vanjski ID-jevi	OMIM: 611386 MGI: 1338758 HomoloGene: 7617 GeneCards: ADNP
Lokacija gena (čovjek)
Hrom.	Hromosom 20 (čovjek)
Kraj	50,931,437 bp
Lokacija gena (miš)
Hrom.	Hromosom 2 (miš)
Kraj	168,049,032 bp
Ontologija gena
Molekularna funkcija	• vezivanje sa DNK; • peptide binding; • chromatin binding; • vezivanje iona metala; • GO:0001948, GO:0016582 vezivanje za proteine; • copper ion binding; • nucleic acid binding; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific; • beta-tubulin binding;
Ćelijska komponenta	• citoplazma; • Akson; • soma; • dendrit; • jedro; • Vanćelijsko;
Biološki proces	• cellular response to extracellular stimulus; • GO:1904089 negative regulation of neuron apoptotic process; • regulation of protein ADP-ribosylation; • GO:0009373 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; • Kratkoročno pamćenje; • 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; • GO:0044324, GO:0003256, GO:1901213, GO:0046019, GO:0046020, GO:1900094, GO:0061216, GO:0060994, GO:1902064, GO:0003258, GO:0072212 regulation of transcription by RNA polymerase II; • cGMP-mediated signaling;
	Izvori:Amigo / QuickGO
Ortolozi
	23394
	11538
	ENSG00000101126
	ENSMUSG00000051149
	Q9H2P0
	Q9Z103
	NM_001282531; NM_001282532; NM_015339; NM_181442; NM_001347511
	NM_009628; NM_001310086; NM_001310088
	NP_001269460; NP_001269461; NP_001334440; NP_056154; NP_852107
	NP_001297015; NP_001297017; NP_033758
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Aktivnost-ovisni neuroreceptorski homeoboks je protein koji je kod ljudi kodiran genom ADNP.^[5]

Funkcija

Vasoaktivni crijevni peptid je neuroprotektivni faktor koji stimulira rast nekih tumorskih ćelijas, a inhibitorni druge. Ovaj gen kodira protein koji je pojačan vazoaktivnim intestinalnim peptidom i može biti uključen u njegov stimulativni učinak na određene tumorske ćelije. Kodirani protein sadrži jedan homeoboksni i devet domena cinkovog prsta, što sugerira da funkcionira kao faktor transkripcije. Ovaj gen je također reguliran u normalnim proliferativnim tkivima. Konačno, kodirani protein može povećati održivost određenih tipova ćelija, modulacijom aktivnosti p53. Opisane su alternativno prerađene varijante transkripta koje kodiraju isti protein.^[5]

Klinički značaj

Mutacije u ADNP uzrokuju autizam.^[6]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000101126 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000051149 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: Activity-dependent neuroprotector homeobox". Pristupljeno 20. 5. 2014.
^ 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.

Vanjski linkovi

Lokacija ljudskog genoma ADNP i stranica sa detaljima o genu ADNP u UCSC Genome Browseru.

Dopunska literatura

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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000101126 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000051149 - Ensembl, maj 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.

[entrez-5] "Entrez Gene: Activity-dependent neuroprotector homeobox". Pristupljeno 20. 5. 2014.

[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.

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