ADNP (gene)

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)
End	50,931,437 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	168,049,032 bp
RNA expression pattern
	Top expressed in
	ganglionic eminence; ; germinal epithelium; ; corpus epididymis; ; caput epididymis; ; palpebral conjunctiva; ; retinal pigment epithelium; ; amniotic fluid; ; lactiferous duct; ; sperm; ; parotid gland;
	Top expressed in
	ganglionic eminence; ; spermatocyte; ; spermatid; ; uterus; ; thymus; ; cerebellar cortex; ; hippocampus proper; ; superior frontal gyrus; ; morula; ; olfactory bulb;
	More reference expression data
	n/a
Gene ontology
Molecular function	DNA binding ; peptide binding ; chromatin binding ; metal ion binding ; protein binding ; copper ion binding ; nucleic acid binding ; DNA-binding transcription factor activity, RNA polymerase II-specific ; beta-tubulin binding ;
Cellular component	cytoplasm ; axon ; neuronal cell body ; dendrite ; nucleus ; extracellular space ;
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 by RNA polymerase II ; cGMP-mediated signaling ;
	Sources:Amigo / QuickGO
Orthologs
	23394
	11538
	ENSG00000101126
	ENSMUSG00000051149
	Q9H2P0
	Q9Z103
	NM_001282531 ; NM_001282532 ; NM_015339 ; NM_181442 ; NM_001347511 Contents Function ; Clinical significance ; References ; External links ; Further reading ;
	NM_009628 ; NM_001310086 ; NM_001310088
	NP_001269460 ; NP_001269461 ; NP_001334440 ; NP_056154 ; NP_852107
	NP_001297015 ; NP_001297017 ; NP_033758
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated January 25, 2024

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

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 are the cause of ADNP syndrome.^[6] Although it is unclear how mutations in the ADNP gene affect ADNP protein function, researchers suggest that the mutations result in abnormal chromatin remodeling. Disturbance of this process alters the activity of many genes and disrupts development or function of several of the body's tissues and organs, including the brain.^[7]

Related Research Articles

Chromatin remodeling is the dynamic modification of chromatin architecture to allow access of condensed genomic DNA to the regulatory transcription machinery proteins, and thereby control gene expression. Such remodeling is principally carried out by 1) covalent histone modifications by specific enzymes, e.g., histone acetyltransferases (HATs), deacetylases, methyltransferases, and kinases, and 2) ATP-dependent chromatin remodeling complexes which either move, eject or restructure nucleosomes. Besides actively regulating gene expression, dynamic remodeling of chromatin imparts an epigenetic regulatory role in several key biological processes, egg cells DNA replication and repair; apoptosis; chromosome segregation as well as development and pluripotency. Aberrations in chromatin remodeling proteins are found to be associated with human diseases, including cancer. Targeting chromatin remodeling pathways is currently evolving as a major therapeutic strategy in the treatment of several cancers.

Transcription activator BRG1 also known as ATP-dependent chromatin remodeler SMARCA4 is a protein that in humans is encoded by the SMARCA4 gene.

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 is a protein that in humans is encoded by the SMARCB1 gene.

Transcriptional regulator ATRX also known as ATP-dependent helicase ATRX, X-linked helicase II, or X-linked nuclear protein (XNP) is a protein that in humans is encoded by the ATRX gene.

Probable global transcription activator SNF2L2 is a protein that in humans is encoded by the SMARCA2 gene.

AT-rich interactive domain-containing protein 1A is a protein that in humans is encoded by the ARID1A gene.

Homeobox protein Hox-A5 is a protein that in humans is encoded by the HOXA5 gene.

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 is a protein that in humans is encoded by the SMARCE1 gene.

SWI/SNF complex subunit SMARCC2 is a protein that in humans is encoded by the SMARCC2 gene.

AT-rich interactive domain-containing protein 1B is a protein that in humans is encoded by the ARID1B gene. ARID1B is a component of the human SWI/SNF chromatin remodeling complex.

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 is a protein that in humans is encoded by the SMARCD1 gene.

Motor neuron and pancreas homeobox 1 (MNX1), also known as Homeobox HB9 (HLXB9), is a human protein encoded by the MNX1 gene.

AT-rich interactive domain-containing protein 2 (ARID2) is a protein that in humans is encoded by the ARID2 gene.

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 is a protein that in humans is encoded by the SMARCD3 gene.

Transcription factor SOX-11 is a protein that in humans is encoded by the SOX11 gene.

Probable global transcription activator SNF2L1 is a protein that in humans is encoded by the SMARCA1 gene.

Actin-like protein 6B is a protein that in humans is encoded by the ACTL6B gene.

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 is a protein that in humans is encoded by the SMARCD2 gene.

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 is a protein that in humans is encoded by the SMARCAL1 gene.

ADNP syndrome, also known as Helsmoortel-Van der Aa syndrome (HVDAS), is a non-inherited neurodevelopmental disorder caused by mutations in the activity-dependent neuroprotector homeobox (ADNP) gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000101126 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000051149 - Ensembl, May 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.
1 2 "Entrez Gene: Activity-dependent neuroprotector homeobox" . Retrieved 2014-05-20.
↑ 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.
↑ "ADNP syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2023-04-19.

External links

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

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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000101126 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 "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.

[7] "ADNP syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2023-04-19.

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