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    AMPH amphiphysin [ Homo sapiens (human) ]

    Gene ID: 273, updated on 10-Dec-2024

    Summary

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    Official Symbol
    AMPHprovided by HGNC
    Official Full Name
    amphiphysinprovided by HGNC
    Primary source
    HGNC:HGNC:471
    See related
    Ensembl:ENSG00000078053 MIM:600418; AllianceGenome:HGNC:471
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AMPH1
    Summary
    This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010]
    Expression
    Biased expression in brain (RPKM 20.2), endometrium (RPKM 1.4) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AMPH in Genome Data Viewer
    Location:
    7p14.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (38383704..38631373, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (38540588..38788026, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (38423305..38670973, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene T cell receptor gamma locus Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25868 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25869 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25871 Neighboring gene T cell receptor gamma locus antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 15414 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25872 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98538 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_98539 and experimental_98540 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98545 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98547 Neighboring gene T cell receptor gamma variable 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98548 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98550 Neighboring gene T cell receptor gamma variable 1 (non-functional) Neighboring gene ReSE screen-validated silencer GRCh37_chr7:38473600-38473818 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98556 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98558 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98567 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25873 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98573 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98575/98576 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98581 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98586 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98589 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98595 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98599 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98607 Neighboring gene RNA, 7SL, cytoplasmic 83, pseudogene Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:38629347-38629908 Neighboring gene keratin 8 pseudogene 20 Neighboring gene CFAP144 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Amphiphysin-IgG autoimmune sciatic neuropathy and facial neuropathy related to primary central nervous system lymphoma: A case report.
      Title: Amphiphysin-IgG autoimmune sciatic neuropathy and facial neuropathy related to primary central nervous system lymphoma: A case report.
    2. 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.
    3. AMPH1 functions as a tumour suppressor in ovarian cancer via the inactivation of PI3K/AKT pathway.
      Title: AMPH1 functions as a tumour suppressor in ovarian cancer via the inactivation of PI3K/AKT pathway.
    4. the anti-oncogenic function of AMPH-1 in lung cancer in vitro and in vivo, is reported.
      Title: AMPH-1 is a tumor suppressor of lung cancer by inhibiting Ras-Raf-MEK-ERK signal pathway.
    5. The data show that the dynamin-amphiphysin helices are rearranged to form clusters upon GTP hydrolysis and membrane constriction occurs at protein-uncoated regions flanking the clusters.
      Title: Dynamic clustering of dynamin-amphiphysin helices regulates membrane constriction and fission coupled with GTP hydrolysis.
    6. We show that AMPH-1/BIN1 binds to nesprin and actin, as well as to the microtubule-binding protein CLIP170 in both species. We propose that BIN1 has a direct and evolutionarily conserved role in nuclear positioning, altered in myopathies.
      Title: Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton.
    7. It is a nerve protein and its autoantibody causes paraneoplastic neurological syndromes.
      Title: [Anti-amphiphysin antibody-positive paraneoplastic neurological syndrome with a longitudinally extensive spinal cord lesion of the dorsal column].
    8. AMPH1 protein level is reduced in transgenic mouse brain proteins. in the brainstem of nontransgenic and terminally ill JNPL3 transgenic mice.
      Title: Amphiphysin-1 protein level changes associated with tau-mediated neurodegeneration.
    9. We propose that antibody-mediated amphiphysin deficiency may account for anxiety behavior in stiff person syndrome
      Title: Human IgG directed against amphiphysin induces anxiety behavior in a rat model after intrathecal passive transfer.
    10. A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
      Title: Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phospholipid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in endocytosis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in synaptic vesicle endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in actin cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in leading edge membrane 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 synaptic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    amphiphysin
    Names
    amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)
    amphiphysin I

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001635.4 → NP_001626.1  amphiphysin isoform 1

      See identical proteins and their annotated locations for NP_001626.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC007245, BC034376, DA125756
      Consensus CDS
      CCDS5456.1
      UniProtKB/Swiss-Prot
      A4D1X8, A4D1X9, O43538, P49418, Q75MJ8, Q75MK5, Q75MM3, Q8N4G0
      UniProtKB/TrEMBL
      A8K5Y2
      Related
      ENSP00000348602.2, ENST00000356264.7
      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:623 → 694
      SH3_Amphiphysin_I; Src Homology 3 domain of Amphiphysin I

    2. NM_139316.3 → NP_647477.1  amphiphysin isoform 2

      See identical proteins and their annotated locations for NP_647477.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon within the coding region compared to variant 1, resulting in a shorter protein (isoform 2).
      Source sequence(s)
      AF034996
      Consensus CDS
      CCDS47574.1
      UniProtKB/TrEMBL
      A8K5Y2
      Related
      ENSP00000317441.5, ENST00000325590.9
      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:581 → 652
      SH3_Amphiphysin_I; Src Homology 3 domain of Amphiphysin I

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      38383704..38631373 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715690.5 → XP_006715753.1  amphiphysin isoform X5

      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:747 → 818
      SH3_Amphiphysin_I; Src Homology 3 domain of Amphiphysin I

    2. XM_011515271.4 → XP_011513573.1  amphiphysin isoform X4

      UniProtKB/TrEMBL
      A8K5Y2
      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:789 → 860
      SH3_Amphiphysin_I; Src Homology 3 domain of Amphiphysin I

    3. XM_017011996.3 → XP_016867485.1  amphiphysin isoform X3

    4. XM_006715689.5 → XP_006715752.1  amphiphysin isoform X2

      Conserved Domains (3) summary
      pfam05887
      Location:1001 → 1133
      Trypan_PARP; Procyclic acidic repetitive protein (PARP)
      cd07611
      Location:26 → 236
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
      cd12140
      Location:1153 → 1224
      SH3_Amphiphysin_I; Src Homology 3 domain of Amphiphysin I

    5. XM_017011995.3 → XP_016867484.1  amphiphysin isoform X1

    6. XM_006715691.5 → XP_006715754.1  amphiphysin isoform X6

      UniProtKB/TrEMBL
      Q8NFL3
      Conserved Domains (1) summary
      cd07611
      Location:26 → 236
      BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      38540588..38788026 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357911.1 → XP_054213886.1  amphiphysin isoform X5

    2. XM_054357910.1 → XP_054213885.1  amphiphysin isoform X4

      UniProtKB/TrEMBL
      A8K5Y2

    3. XM_054357909.1 → XP_054213884.1  amphiphysin isoform X3

    4. XM_054357908.1 → XP_054213883.1  amphiphysin isoform X2

    5. XM_054357907.1 → XP_054213882.1  amphiphysin isoform X1

    6. XM_054357912.1 → XP_054213887.1  amphiphysin isoform X6

      UniProtKB/TrEMBL
      Q8NFL3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49418.1 GenPept UniProtKB/Swiss-Prot:P49418

    Gene LinkOut

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