Amph amphiphysin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Amphprovided by MGI
Official Full Name: amphiphysinprovided by MGI
Primary source: MGI:MGI:103574
See related: Ensembl:ENSMUSG00000021314 AllianceGenome:MGI:103574
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
Summary: Predicted to enable phospholipid binding activity and protein C-terminus binding activity. Involved in synaptic vesicle endocytosis. Acts upstream of or within learning. Located in synaptic vesicle. Is active in glutamatergic synapse; photoreceptor ribbon synapse; and presynaptic endocytic zone. Is expressed in several structures, including allantois; metanephros; pituitary gland; and septum transversum. Orthologous to human AMPH (amphiphysin). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 23.7), frontal lobe adult (RPKM 22.9) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 A2; 13 6.89 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (19132524..19335089)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (18948142..19154032)

Chromosome 13 - NC_000079.7 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?

Amphiphysin I cleavage by asparagine endopeptidase leads to tau hyperphosphorylation and synaptic dysfunction.
Title: Amphiphysin I cleavage by asparagine endopeptidase leads to tau hyperphosphorylation and synaptic dysfunction.
Data indicate that dynamin, clathrin, adaptor protein complex-2 (AP2), and amphiphysin contribute to the depolarization-evoked entry in endocytosis.
Title: Molecular components required for resting and stimulated endocytosis of botulinum neurotoxins by glutamatergic and peptidergic neurons.
Amph1 is the cytoplasmic substrate for CDKL5 and that its phosphorylation may play crucial roles in the neuronal development.
Title: Identification of amphiphysin 1 as an endogenous substrate for CDKL5, a protein kinase associated with X-linked neurodevelopmental disorder.
amphiphysin interaction with N-WASP regulates actin assembly
Title: Dynamic interaction of amphiphysin with N-WASP regulates actin assembly.
As amphiphysin is involved in the regulation of endocytosis, phosphorylation at this site may play a role in the regulated re-uptake of synaptic vesicles after neurotransmitter release.
Title: Amphiphysin I phosphorylation on residue threonine 260 in a pentylenetetrazole-induced seizure model.
amphiphysin 1 is important in the regulation of actin dynamics
Title: Amphiphysin 1 is important for actin polymerization during phagocytosis.
results suggest that amphiphysin 1 and dynamin 2 are involved in TBC formation and spermatid release at Sertoli cells
Title: Implication of amphiphysin 1 and dynamin 2 in tubulobulbar complex formation and spermatid release.
calpain-dependent cleavage of amphiphysin I inhibits synaptic vesicle endocytosis during neural hyperexcitation and demonstrate a novel post-translational regulation of endocytosis
Title: Truncations of amphiphysin I by calpain inhibit vesicle endocytosis during neural hyperexcitation.
amphiphysin IIm has a role in survival of Chlamydia pneumoniae in macrophages
Title: Amphiphysin IIm is required for survival of Chlamydia pneumoniae in macrophages.

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Variation

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Alleles

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

Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Amph (e-PCR), detects polymorphism
- UniSTS:256650

RH130713 (e-PCR)
- UniSTS:213997

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables phosphatase binding	ISO Inferred from Sequence Orthology more info
enables phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables phospholipid binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within learning	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endocytosis	ISO Inferred from Sequence Orthology more info
involved_in synaptic vesicle endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic vesicle endocytosis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within synaptic vesicle endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic vesicle endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in axon terminus	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in extrinsic component of synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in leading edge membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in photoreceptor ribbon synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in presynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynaptic endocytic zone	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: amphiphysin

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_001289546.2 → NP_001276475.1 amphiphysin isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1, which results in a longer protein (isoform 2), compared to isoform 1.

Source sequence(s)

AC122849, AC163621, AC163721

Consensus CDS

CCDS79165.1

UniProtKB/TrEMBL

A0A0G2JEG8, C6EQG9

Related

ENSMUSP00000142766.2, ENSMUST00000200466.5

Conserved Domains (2) summary

cd07611
Location:26 → 236

BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

cd12140
Location:618 → 689

SH3_Amphiphysin_I; Src Homology 3 domain of Amphiphysin I
NM_001426497.1 → NP_001413426.1 amphiphysin isoform 3

Status: VALIDATED

Source sequence(s)

AC122849, AC163621, AC163721
NM_001426498.1 → NP_001413427.1 amphiphysin isoform 4

Status: VALIDATED

Source sequence(s)

AC122849, AC163621, AC163721
NM_001426499.1 → NP_001413428.1 amphiphysin isoform 5

Status: VALIDATED

Source sequence(s)

AC122849, AC163621, AC163721
NM_001426500.1 → NP_001413429.1 amphiphysin isoform 6

Status: VALIDATED

Source sequence(s)

AC122849, AC163621, AC163721
NM_001426501.1 → NP_001413430.1 amphiphysin isoform 7

Status: VALIDATED

Source sequence(s)

AC122849, AC163621, AC163721
NM_001426502.1 → NP_001413431.1 amphiphysin isoform 8

Status: VALIDATED

Source sequence(s)

AC122849, AC163621, AC163721
NM_001426503.1 → NP_001413432.1 amphiphysin isoform 9

Status: VALIDATED

Source sequence(s)

AC122849, AC163621, AC163721
NM_001426504.1 → NP_001413433.1 amphiphysin isoform 10

Status: VALIDATED

Source sequence(s)

AC122849, AC163621, AC163721
NM_001426505.1 → NP_001413434.1 amphiphysin isoform 11

Status: VALIDATED

Source sequence(s)

AC122849, AC163621, AC163721
NM_001426506.1 → NP_001413435.1 amphiphysin isoform 12

Status: VALIDATED

Source sequence(s)

AC122849, AC163621, AC163721
NM_175007.3 → NP_778172.1 amphiphysin isoform 1

See identical proteins and their annotated locations for NP_778172.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).

Source sequence(s)

AC122849, AC163621, AC163721

Consensus CDS

CCDS26258.1

UniProtKB/Swiss-Prot

Q7TQF7, Q8R1C4

UniProtKB/TrEMBL

C6EQG9

Related

ENSMUSP00000003345.8, ENSMUST00000003345.10

Conserved Domains (2) summary

cd07611
Location:26 → 236

BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

cd12140
Location:614 → 685

SH3_Amphiphysin_I; Src Homology 3 domain of Amphiphysin I