Appl1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Appl1provided by MGI
Official Full Name: adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1provided by MGI
Primary source: MGI:MGI:1920243
See related: Ensembl:ENSMUSG00000040760 AllianceGenome:MGI:1920243
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: DIP13; 2900057D21Rik; 7330406P05Rik
Summary: Predicted to enable several functions, including beta-tubulin binding activity; phospholipid binding activity; and protein homodimerization activity. Involved in several processes, including cellular response to hepatocyte growth factor stimulus; positive regulation of cytokine production involved in inflammatory response; and regulation of vesicle-mediated transport. Located in cytoplasmic vesicle and ruffle. Is expressed in several structures, including liver; muscle tissue; spleen; stomach; and testis. Human ortholog(s) of this gene implicated in maturity-onset diabetes of the young type 14. Orthologous to human APPL1 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in CNS E18 (RPKM 11.1), whole brain E14.5 (RPKM 9.0) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 A3; 14 16.09 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (26640943..26692567, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (26918986..26970611, complement)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Dysfunctional APPL1-Mediated Epigenetic Regulation in Diabetic Vascular Injury.
Title: Dysfunctional APPL1-Mediated Epigenetic Regulation in Diabetic Vascular Injury.
NMDA Receptor-Dependent Synaptic Potentiation via APPL1 Signaling Is Required for the Accessibility of a Prefrontal Neuronal Assembly in Retrieving Fear Extinction.
Title: NMDA Receptor-Dependent Synaptic Potentiation via APPL1 Signaling Is Required for the Accessibility of a Prefrontal Neuronal Assembly in Retrieving Fear Extinction.
Impairment of APPL1/Myoferlin facilitates adipogenic differentiation of mesenchymal stem cells by blocking autophagy flux in osteoporosis.
Title: Impairment of APPL1/Myoferlin facilitates adipogenic differentiation of mesenchymal stem cells by blocking autophagy flux in osteoporosis.
Adaptor protein APPL1 links neuronal activity to chromatin remodeling in cultured hippocampal neurons.
Title: Adaptor protein APPL1 links neuronal activity to chromatin remodeling in cultured hippocampal neurons.
Adiponectin inhibits Dgalinduced cardiomyocyte senescence via AdipoR1/APPL1.
Title: Adiponectin inhibits D‑gal‑induced cardiomyocyte senescence via AdipoR1/APPL1.
The APPL1-Rab5 axis restricts NLRP3 inflammasome activation through early endosomal-dependent mitophagy in macrophages.
Title: The APPL1-Rab5 axis restricts NLRP3 inflammasome activation through early endosomal-dependent mitophagy in macrophages.
APPL1 negatively regulates bone mass, possibly by controlling the fate of bone marrow mesenchymal progenitor cells.
Title: APPL1 negatively regulates bone mass, possibly by controlling the fate of bone marrow mesenchymal progenitor cells.
APPL1 knockdown blocks adipogenic differentiation and promotes adipocyte lipolysis.
Title: APPL1 knockdown blocks adipogenic differentiation and promotes adipocyte lipolysis.
Short-term Resistance Training Increases APPL1 Content in the Liver and the Insulin Sensitivity of Mice Fed a Long-term High-fat Diet.
Title: Short-term Resistance Training Increases APPL1 Content in the Liver and the Insulin Sensitivity of Mice Fed a Long-term High-fat Diet.
Retrograde transport of Akt by a neuronal Rab5-APPL1 endosome.
Title: Retrograde transport of Akt by a neuronal Rab5-APPL1 endosome.

Submit: New GeneRIF Correction See all GeneRIFs (37)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (2)
Targeted (4) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BB022931 (e-PCR)
- UniSTS:185989

C88264 (e-PCR)
- UniSTS:185990

AW209077 (e-PCR)
- UniSTS:180618

AI585782 (e-PCR)
- UniSTS:164549

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables beta-tubulin binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylserine binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein kinase B binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase B binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in adiponectin-activated signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hepatocyte growth factor stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in insulin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in insulin receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in maintenance of synapse structure	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of Fc-gamma receptor signaling pathway involved in phagocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cytokine production involved in inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of glucose import	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of macropinocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of melanin biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in protein import into nucleus	ISO Inferred from Sequence Orthology more info
involved_in regulation of G1/S transition of mitotic cell cycle	ISO Inferred from Sequence Orthology more info
involved_in regulation of fibroblast migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of glucose import	ISO Inferred from Sequence Orthology more info
involved_in regulation of innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in regulation of toll-like receptor 4 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in early phagosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	ISO Inferred from Sequence Orthology more info
is_active_in endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endosome membrane	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in intracellular vesicle	ISO Inferred from Sequence Orthology more info
located_in macropinosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in postsynapse	ISO Inferred from Sequence Orthology more info
is_active_in presynapse	ISO Inferred from Sequence Orthology more info
located_in ruffle	IDA Inferred from Direct Assay more info	PubMed
located_in vesicle membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: DCC-interacting protein 13-alpha

Names: DIP13 alpha; adapter protein containing PH domain, PTB domain and leucine zipper motif 1; adaptor protein APPL like; dip13-alpha

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_145221.3 → NP_660256.1 DCC-interacting protein 13-alpha

See identical proteins and their annotated locations for NP_660256.1

Status: VALIDATED

Source sequence(s)

AC124603

Consensus CDS

CCDS26883.1

UniProtKB/Swiss-Prot

Q3UJP7, Q69ZJ9, Q8BWZ8, Q8K3H0, Q8VCJ8, Q9CUW4

Related

ENSMUSP00000042875.5, ENSMUST00000036570.5

Conserved Domains (4) summary

cd07631
Location:20 → 234

BAR_APPL1; The Bin/Amphiphysin/Rvs (BAR) domain of Adaptor protein, Phosphotyrosine interaction, PH domain and Leucine zipper containing 1

cd13158
Location:489 → 624

PTB_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif (APPL; also called DCC-interacting protein (DIP)-13alpha) Phosphotyrosine-binding (PTB) domain

cd13247
Location:252 → 376

BAR-PH_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif Bin1/amphiphysin/Rvs167 (BAR)-Pleckstrin homology (PH) domain

pfam00169
Location:280 → 375

PH; PH domain

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

NC_000080.7 Reference GRCm39 C57BL/6J

Range

26640943..26692567 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006519608.3 → XP_006519671.1 DCC-interacting protein 13-alpha isoform X1

Conserved Domains (3) summary

cd13158
Location:465 → 600

PTB_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif (APPL; also called DCC-interacting protein (DIP)-13alpha) Phosphotyrosine-binding (PTB) domain

cd13247
Location:228 → 352

BAR-PH_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif Bin1/amphiphysin/Rvs167 (BAR)-Pleckstrin homology (PH) domain

cl12013
Location:20 → 210

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_017316214.3 → XP_017171703.1 DCC-interacting protein 13-alpha isoform X2

Conserved Domains (3) summary

cd13158
Location:379 → 514

PTB_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif (APPL; also called DCC-interacting protein (DIP)-13alpha) Phosphotyrosine-binding (PTB) domain

cd13247
Location:142 → 266

BAR-PH_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif Bin1/amphiphysin/Rvs167 (BAR)-Pleckstrin homology (PH) domain

cl12013
Location:1 → 124

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_030248050.1 → XP_030103910.1 DCC-interacting protein 13-alpha isoform X3

Conserved Domains (3) summary

cd13158
Location:312 → 447

PTB_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif (APPL; also called DCC-interacting protein (DIP)-13alpha) Phosphotyrosine-binding (PTB) domain

cd13247
Location:75 → 199

BAR-PH_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif Bin1/amphiphysin/Rvs167 (BAR)-Pleckstrin homology (PH) domain

cl12013
Location:1 → 57

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature