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Adnp activity-dependent neuroprotective protein [ Mus musculus (house mouse) ]

Gene ID: 11538, updated on 7-Apr-2024

Summary

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Official Symbol
Adnpprovided by MGI
Official Full Name
activity-dependent neuroprotective proteinprovided by MGI
Primary source
MGI:MGI:1338758
See related
Ensembl:ENSMUSG00000051149 AllianceGenome:MGI:1338758
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
mKIAA0784
Summary
This gene encodes a member of a protein family characterized by nine zinc finger motifs followed by a homeobox domain. In vitro studies demonstrate that the encoded protein interacts with the brahma-related gene1-associated or hBRM factors (BAF) gene expression regulating complex, components of the protein translation machinery, and microtubule-associated proteins. This gene has been implicated in neuroprotection through various processes that include chromatin remodeling, splicing, cytoskeletal reorganization, and autophagy. Homozygous mutant knockout mice display embryonic lethality with defects in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 36.2), CNS E14 (RPKM 35.6) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
2 H3; 2 88.41 cM
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (168022885..168049032, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (168180965..168207112, complement)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_06455 Neighboring gene predicted gene, 33185 Neighboring gene predicted gene, 54130 Neighboring gene predicted gene 20716 Neighboring gene STARR-seq mESC enhancer starr_06457 Neighboring gene STARR-positive B cell enhancer ABC_E10163 Neighboring gene STARR-positive B cell enhancer ABC_E8797 Neighboring gene dolichyl-phosphate mannosyltransferase subunit 1, catalytic Neighboring gene molybdenum cofactor synthesis 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. The autism-mutated ADNP plays a key role in stress response. Sragovich S, et al. Transl Psychiatry, 2019 Sep 18. PMID 31534115, Free PMC Article
  2. Activity-dependent neuroprotective protein deficiency models synaptic and developmental phenotypes of autism-like syndrome. Hacohen-Kleiman G, et al. J Clin Invest, 2018 Nov 1. PMID 30106381, Free PMC Article
  3. Activity-dependent neuroprotective protein (ADNP) is an alcohol-responsive gene and negative regulator of alcohol consumption in female mice. Ziv Y, et al. Neuropsychopharmacology, 2019 Jan. PMID 30008470, Free PMC Article
  4. Activity-dependent neuroprotective protein (ADNP) expression in the amyloid precursor protein/presenilin 1 mouse model of Alzheimer's disease. Fernandez-Montesinos R, et al. J Mol Neurosci, 2010 May. PMID 19844808
  5. ADNP differential nucleus/cytoplasm localization in neurons suggests multiple roles in neuronal differentiation and maintenance. Mandel S, et al. J Mol Neurosci, 2008 Jun. PMID 18286385

See all (65) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ADNP modulates SINE B2-derived CTCF-binding sites during blastocyst formation in mice.
    Title: ADNP modulates SINE B2-derived CTCF-binding sites during blastocyst formation in mice.
  2. Adnp-mutant mice with cognitive inflexibility, CaMKIIalpha hyperactivity, and synaptic plasticity deficits.
    Title: Adnp-mutant mice with cognitive inflexibility, CaMKIIα hyperactivity, and synaptic plasticity deficits.
  3. SH3- and actin-binding domains connect ADNP and SHANK3, revealing a fundamental shared mechanism underlying autism.
    Title: SH3- and actin-binding domains connect ADNP and SHANK3, revealing a fundamental shared mechanism underlying autism.
  4. A convergent mechanism of high risk factors ADNP and POGZ in neurodevelopmental disorders.
    Title: A convergent mechanism of high risk factors ADNP and POGZ in neurodevelopmental disorders.
  5. Novel ADNP Syndrome Mice Reveal Dramatic Sex-Specific Peripheral Gene Expression With Brain Synaptic and Tau Pathologies.
    Title: Novel ADNP Syndrome Mice Reveal Dramatic Sex-Specific Peripheral Gene Expression With Brain Synaptic and Tau Pathologies.
  6. Introducing ADNP and SIRT1 as new partners regulating microtubules and histone methylation.
    Title: Introducing ADNP and SIRT1 as new partners regulating microtubules and histone methylation.
  7. Single Cell ADNP Predictive of Human Muscle Disorders: Mouse Knockdown Results in Muscle Wasting.
    Title: Single Cell ADNP Predictive of Human Muscle Disorders: Mouse Knockdown Results in Muscle Wasting.
  8. Age and Sex-Dependent ADNP Regulation of Muscle Gene Expression Is Correlated with Motor Behavior: Possible Feedback Mechanism with PACAP.
    Title: Age and Sex-Dependent ADNP Regulation of Muscle Gene Expression Is Correlated with Motor Behavior: Possible Feedback Mechanism with PACAP.
  9. ADNP promotes neural differentiation by modulating Wnt/beta-catenin signaling.
    Title: ADNP promotes neural differentiation by modulating Wnt/β-catenin signaling.
  10. Sonography and immunofluorescence staining of epidermal layers revealed that the dermis was thinner in the patient than in a healthy control. Adnp haploinsufficient mice (Adnp(+/-)) mimicked the human condition showing reduced dermal thickness.
    Title: Cellular and animal models of skin alterations in the autism-related ADNP syndrome.
Submit: New GeneRIF Correction See all GeneRIFs (29)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (4)  1 citation
  • Endonuclease-mediated (5) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough Gm20716

Readthrough gene: Gm20716, Included gene: Dpm1

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables beta-catenin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables beta-tubulin binding ISO
Inferred from Sequence Orthology
more info
  
enables chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables copper ion binding ISO
Inferred from Sequence Orthology
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables peptide binding ISO
Inferred from Sequence Orthology
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cGMP-mediated signaling ISO
Inferred from Sequence Orthology
more info
  
involved_in intracellular nitric oxide homeostasis ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of gene expression ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within negative regulation of neuron apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of neuron apoptotic process ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of synaptic transmission ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of neuron apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in neuron differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of axon extension ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of neuron projection development ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of peptidyl-tyrosine phosphorylation ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of synapse assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of gene expression IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in short-term memory ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
part_of RNA polymerase II transcription regulator complex ISO
Inferred from Sequence Orthology
more info
  
located_in axon ISO
Inferred from Sequence Orthology
more info
  
located_in chromosome IEA
Inferred from Electronic Annotation
more info
  
located_in dendrite ISO
Inferred from Sequence Orthology
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular space ISO
Inferred from Sequence Orthology
more info
  
located_in neuronal cell body ISO
Inferred from Sequence Orthology
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IC
Inferred by Curator
more info
 PubMed 

General protein information

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Preferred Names
activity-dependent neuroprotector homeobox protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001310086.1 → NP_001297015.1  activity-dependent neuroprotector homeobox protein isoform 1

    See identical proteins and their annotated locations for NP_001297015.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AK134786, BC090840, BF464091, BG143403, BX005039
    Consensus CDS
    CCDS38342.1
    UniProtKB/Swiss-Prot
    A2BDX0, Q9Z103
    UniProtKB/TrEMBL
    Q3UYC8
    Related
    ENSMUSP00000056809.5, ENSMUST00000057793.11
    Conserved Domains (2) summary
    smart00389
    Location:767 → 810
    HOX; Homeodomain
    sd00020
    Location:490 → 509
    ZF_C2H2; C2H2 Zn finger [structural motif]

  2. NM_001310088.1 → NP_001297017.1  activity-dependent neuroprotector homeobox protein isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate exons, lacks a portion of the 5' UTR and 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AI448578, AK134786, BC090840, BG143403, BX005039
    UniProtKB/TrEMBL
    Q5RKY4
    Conserved Domains (3) summary
    smart00389
    Location:539 → 582
    HOX; Homeodomain
    sd00020
    Location:262 → 281
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam19627
    Location:1 → 525
    ADNP_N; Activity-dependent neuroprotector homeobox protein N-terminal

  3. NM_009628.3 → NP_033758.2  activity-dependent neuroprotector homeobox protein isoform 1

    See identical proteins and their annotated locations for NP_033758.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AK134786, BC090840, BF460813, BG143403, BX005039
    Consensus CDS
    CCDS38342.1
    UniProtKB/Swiss-Prot
    A2BDX0, Q9Z103
    UniProtKB/TrEMBL
    Q3UYC8
    Related
    ENSMUSP00000085316.6, ENSMUST00000088001.6
    Conserved Domains (2) summary
    smart00389
    Location:767 → 810
    HOX; Homeodomain
    sd00020
    Location:490 → 509
    ZF_C2H2; C2H2 Zn finger [structural motif]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    168022885..168049032 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Z103.2 GenPept UniProtKB/Swiss-Prot:Q9Z103

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