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AMPH amphiphysin [ Homo sapiens (human) ]

Gene ID: 273, updated on 26-May-2016
Official Symbol
AMPHprovided by HGNC
Official Full Name
amphiphysinprovided by HGNC
Primary source
HGNC:HGNC:471
See related
Ensembl:ENSG00000078053 HPRD:02687; MIM:600418; Vega:OTTHUMG00000023725
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]
Orthologs
Location:
7p14-p13
Exon count:
23
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 keratin 8 pseudogene 20 Neighboring gene acyloxyacyl hydrolase (neutrophil)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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
  • Monoamine Transport, organism-specific biosystem (from WikiPathways)
    Monoamine Transport, organism-specific biosystem
    Monoamine Transport
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ARF guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
endocytosis TAS
Traceable Author Statement
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
synaptic transmission TAS
Traceable Author Statement
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
 
leading edge membrane IDA
Inferred from Direct Assay
more info
PubMed 
synaptic vesicle TAS
Traceable Author Statement
more info
PubMed 
synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
amphiphysin
Names
amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)
amphiphysin I

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_001635.3NP_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, F03887
    Consensus CDS
    CCDS5456.1
    UniProtKB/Swiss-Prot
    P49418
    Related
    ENSP00000348602, OTTHUMP00000135289, ENST00000356264, OTTHUMT00000226953
    Conserved Domains (3) summary
    PTZ00249
    Location:428589
    PTZ00249; variable surface protein Vir28; Provisional
    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, OTTHUMP00000207238, ENST00000325590, OTTHUMT00000338408
    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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006715690.2XP_006715753.1  

    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_011515271.1XP_011513573.1  

    Conserved Domains (3) summary
    PTZ00249
    Location:594755
    PTZ00249; variable surface protein Vir28; Provisional
    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_006715689.2XP_006715752.1  

    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
  4. XM_006715691.2XP_006715754.1  

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

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    38425940..38673786 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)