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AMPH amphiphysin [ Homo sapiens (human) ]

Gene ID: 273, updated on 12-Oct-2019

Summary

Official Symbol
AMPHprovided by HGNC
Official Full Name
amphiphysinprovided by HGNC
Primary source
HGNC:HGNC:471
See related
Ensembl:ENSG00000078053 MIM:600418
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

Genomic context

See AMPH in Genome Data Viewer
Location:
7p14.1
Exon count:
23
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (38383694..38631567, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (38423297..38671167, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene T cell receptor gamma locus Neighboring gene T cell receptor gamma locus antisense RNA 1 Neighboring gene T cell receptor gamma variable 2 Neighboring gene T cell receptor gamma variable 1 (non-functional) Neighboring gene RNA, 7SL, cytoplasmic 83, pseudogene Neighboring gene keratin 8 pseudogene 20 Neighboring gene acyloxyacyl hydrolase (neutrophil)

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Fc gamma R-mediated phagocytosis, organism-specific biosystem (from KEGG)
    Fc gamma R-mediated phagocytosis, organism-specific biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
  • Fc gamma R-mediated phagocytosis, conserved biosystem (from KEGG)
    Fc gamma R-mediated phagocytosis, conserved biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
  • Internalization of ErbB1, organism-specific biosystem (from Pathway Interaction Database)
    Internalization of ErbB1, organism-specific biosystem
    Internalization of ErbB1
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Monoamine Transport, organism-specific biosystem (from WikiPathways)
    Monoamine Transport, organism-specific biosystem
    Monoamine Transport
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001635.4NP_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
    P49418
    Related
    ENSP00000348602.2, ENST00000356264.7
    Conserved Domains (2) summary
    cd07611
    Location:26236
    BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
    cd12140
    Location:623694
    SH3_Amphiphysin_I; Src Homology 3 domain of Amphiphysin I
  2. NM_139316.2NP_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, DA125756, F03887
    Consensus CDS
    CCDS47574.1
    UniProtKB/Swiss-Prot
    P49418
    Related
    ENSP00000317441.5, ENST00000325590.9
    Conserved Domains (2) summary
    cd07611
    Location:26236
    BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
    cd12140
    Location:581652
    SH3_Amphiphysin_I; Src Homology 3 domain of Amphiphysin I

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    38383694..38631567 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715690.4XP_006715753.1  amphiphysin isoform X5

    Conserved Domains (2) summary
    cd07611
    Location:26236
    BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
    cd12140
    Location:747818
    SH3_Amphiphysin_I; Src Homology 3 domain of Amphiphysin I
  2. XM_011515271.3XP_011513573.1  amphiphysin isoform X4

    Conserved Domains (2) summary
    cd07611
    Location:26236
    BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
    cd12140
    Location:789860
    SH3_Amphiphysin_I; Src Homology 3 domain of Amphiphysin I
  3. XM_017011996.2XP_016867485.1  amphiphysin isoform X3

  4. XM_006715689.4XP_006715752.1  amphiphysin isoform X2

    Conserved Domains (3) summary
    pfam05887
    Location:10011133
    Trypan_PARP; Procyclic acidic repetitive protein (PARP)
    cd07611
    Location:26236
    BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
    cd12140
    Location:11531224
    SH3_Amphiphysin_I; Src Homology 3 domain of Amphiphysin I
  5. XM_017011995.2XP_016867484.1  amphiphysin isoform X1

  6. XM_006715691.4XP_006715754.1  amphiphysin isoform X6

    Conserved Domains (1) summary
    cd07611
    Location:26236
    BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II
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