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    Amph amphiphysin [ Mus musculus (house mouse) ]

    Gene ID: 218038, updated on 3-Apr-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 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

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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 I phosphorylation on residue threonine 260 in a pentylenetetrazole-induced seizure model. Choudhury M, et al. Neurosci Lett, 2008 Oct 31. PMID 18761055
    2. 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
    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. Amphiphysin 1 is important for actin polymerization during phagocytosis. Yamada H, et al. Mol Biol Cell, 2007 Nov. PMID 17855509, Free PMC Article
    5. Implication of amphiphysin 1 and dynamin 2 in tubulobulbar complex formation and spermatid release. Kusumi N, et al. Cell Struct Funct, 2007. PMID 17785912

    See all (57) 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 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)

    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

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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