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Amph amphiphysin [ Mus musculus (house mouse) ]

Gene ID: 218038, updated on 27-Nov-2024

Summary

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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 phosphatase binding activity and phospholipid 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; brain; genitourinary system; liver; and septum transversum. Orthologous to human AMPH (amphiphysin). [provided by Alliance of Genome Resources, Nov 2024]
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

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See Amph in Genome Data Viewer
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_000079.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 26172 Neighboring gene predicted gene, 53776 Neighboring gene STARR-seq mESC enhancer starr_33785 Neighboring gene ribosomal protein 10 pseudogene Neighboring gene STARR-seq mESC enhancer starr_33786 Neighboring gene STARR-seq mESC enhancer starr_33787 Neighboring gene predicted gene, 31887 Neighboring gene T cell receptor gamma, variable 7 Neighboring gene T cell receptor gamma chain Neighboring gene T cell receptor gamma, variable 4

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. Amphiphysin IIm is required for survival of Chlamydia pneumoniae in macrophages. Gold ES, et al. J Exp Med, 2004 Sep 6. PMID 15337791, Free PMC Article
  2. Amphiphysin I phosphorylation on residue threonine 260 in a pentylenetetrazole-induced seizure model. Choudhury M, et al. Neurosci Lett, 2008 Oct 31. PMID 18761055
  3. Identification of amphiphysin 1 as an endogenous substrate for CDKL5, a protein kinase associated with X-linked neurodevelopmental disorder. Sekiguchi M, et al. Arch Biochem Biophys, 2013 Jul 15. PMID 23651931
  4. Perturbation of dynamin II with an amphiphysin SH3 domain increases GLUT4 glucose transporters at the plasma membrane in 3T3-L1 adipocytes. Dynamin II participates in GLUT4 endocytosis. Volchuk A, et al. J Biol Chem, 1998 Apr 3. PMID 9525921
  5. Truncations of amphiphysin I by calpain inhibit vesicle endocytosis during neural hyperexcitation. Wu Y, et al. EMBO J, 2007 Jun 20. PMID 17541403, Free PMC Article

See all (61) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. amphiphysin interaction with N-WASP regulates actin assembly
    Title: Dynamic interaction of amphiphysin with N-WASP regulates actin assembly.
  5. 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.
  6. amphiphysin 1 is important in the regulation of actin dynamics
    Title: Amphiphysin 1 is important for actin polymerization during phagocytosis.
  7. 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.
  8. 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.
  9. amphiphysin IIm has a role in survival of Chlamydia pneumoniae in macrophages
    Title: Amphiphysin IIm is required for survival of Chlamydia pneumoniae in macrophages.
Submit: New GeneRIF Correction

Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC49429

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 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
  
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 
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 
located_in synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
  

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)

  1. 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

  2. NM_001426497.1 → NP_001413426.1  amphiphysin isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC122849, AC163621, AC163721
    Related
    ENSMUSP00000159202.2, ENSMUST00000239207.2

  3. NM_001426498.1 → NP_001413427.1  amphiphysin isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC122849, AC163621, AC163721

  4. NM_001426499.1 → NP_001413428.1  amphiphysin isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC122849, AC163621, AC163721

  5. NM_001426500.1 → NP_001413429.1  amphiphysin isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC122849, AC163621, AC163721

  6. NM_001426501.1 → NP_001413430.1  amphiphysin isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC122849, AC163621, AC163721

  7. NM_001426502.1 → NP_001413431.1  amphiphysin isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC122849, AC163621, AC163721

  8. NM_001426503.1 → NP_001413432.1  amphiphysin isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC122849, AC163621, AC163721

  9. NM_001426504.1 → NP_001413433.1  amphiphysin isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC122849, AC163621, AC163721

  10. NM_001426505.1 → NP_001413434.1  amphiphysin isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC122849, AC163621, AC163721

  11. NM_001426506.1 → NP_001413435.1  amphiphysin isoform 12

    Status: VALIDATED

    Source sequence(s)
    AC122849, AC163621, AC163721

  12. 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

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_000079.7 Reference GRCm39 C57BL/6J

    Range
    19132524..19335089
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7TQF7.1 GenPept UniProtKB/Swiss-Prot:Q7TQF7

Gene LinkOut

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