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AMPH amphiphysin [ Homo sapiens (human) ]

Gene ID: 273, updated on 2-Nov-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 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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Related articles in PubMed

  1. Amphiphysin-IgG autoimmune sciatic neuropathy and facial neuropathy related to primary central nervous system lymphoma: A case report. Yao X, et al. J Neuroimmunol, 2023 Sep 15. PMID 37556888
  2. Applying chemometrics approaches to model and predict the binding affinities between the human amphiphysin SH3 domain and its peptide ligands. Liu L, et al. Protein Pept Lett, 2010 Feb. PMID 20214647
  3. Toward quantitative characterization of the binding profile between the human amphiphysin-1 SH3 domain and its peptide ligands. He P, et al. Amino Acids, 2010 Apr. PMID 19669081
  4. Human IgG directed against amphiphysin induces anxiety behavior in a rat model after intrathecal passive transfer. Geis C, et al. J Neural Transm (Vienna), 2012 Aug. PMID 22331304
  5. Modeling and prediction of binding affinities between the human amphiphysin SH3 domain and its peptide ligands using genetic algorithm-Gaussian processes. Zhou P, et al. Biopolymers, 2008. PMID 18814309

See all (87) citations in PubMed

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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

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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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

  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

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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