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

Summary

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

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
ADNP promotes neural differentiation by modulating Wnt/beta-catenin signaling.
Title: ADNP promotes neural differentiation by modulating Wnt/β-catenin signaling.
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

RH125001 (e-PCR)
- UniSTS:161823

RH126136 (e-PCR)
- UniSTS:162848

Adnp (e-PCR), detects polymorphism
- UniSTS:502693

Readthrough Gm20716

Readthrough gene: Gm20716, Included gene: Dpm1

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)

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]
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
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]