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Aliases for AMPH Gene

Aliases for AMPH Gene

  • Amphiphysin 2 3
  • Amphiphysin (Stiff-Mann Syndrome With Breast Cancer 128kD Autoantigen) 2 3
  • AMPH1 3 4
  • Amphiphysin (Stiff-Man Syndrome With Breast Cancer 128kDa Autoantigen) 2
  • Amphiphysin I 3

External Ids for AMPH Gene

Summaries for AMPH Gene

Entrez Gene Summary for AMPH Gene

  • 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]

GeneCards Summary for AMPH Gene

AMPH (Amphiphysin) is a Protein Coding gene. Diseases associated with AMPH include breast cancer and retinitis pigmentosa 9. Among its related pathways are Fc gamma R-mediated phagocytosis and Internalization of ErbB1. An important paralog of this gene is BIN1.

UniProtKB/Swiss-Prot for AMPH Gene

  • May participate in mechanisms of regulated exocytosis in synapses and certain endocrine cell types. May control the properties of the membrane associated cytoskeleton

Gene Wiki entry for AMPH Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMPH Gene

Genomics for AMPH Gene

Genomic Location for AMPH Gene

Start:
38,383,696 bp from pter
End:
38,631,567 bp from pter
Size:
247,872 bases
Orientation:
Minus strand

Genomic View for AMPH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AMPH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMPH Gene

Regulatory Elements for AMPH Gene

Proteins for AMPH Gene

  • Protein details for AMPH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49418-AMPH_HUMAN
    Recommended name:
    Amphiphysin
    Protein Accession:
    P49418
    Secondary Accessions:
    • A4D1X8
    • A4D1X9
    • O43538
    • Q75MJ8
    • Q75MK5
    • Q75MM3
    • Q8N4G0

    Protein attributes for AMPH Gene

    Size:
    695 amino acids
    Molecular mass:
    76257 Da
    Quaternary structure:
    • Heterodimer with BIN1. Binds SH3GLB1 and AP2A2 (By similarity). Interacts with AP2B1. Interacts with REPS1 and SGIP1; may be involved in clathrin-mediated endocytosis.
    Miscellaneous:
    • Antibodies against AMPH are detected in patients with stiff-man syndrome, a rare disease of the central nervous system characterized by progressive rigidity of the body musculature with superimposed painful spasms

    Three dimensional structures from OCA and Proteopedia for AMPH Gene

    Alternative splice isoforms for AMPH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AMPH Gene

Proteomics data for AMPH Gene at MOPED

Post-translational modifications for AMPH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AMPH Gene

No data available for DME Specific Peptides for AMPH Gene

Domains for AMPH Gene

UniProtKB/Swiss-Prot:

AMPH_HUMAN
Domain:
  • Contains 1 BAR domain.:
    • P49418
  • Contains 1 SH3 domain.:
    • P49418
genes like me logo Genes that share domains with AMPH: view

No data available for Gene Families for AMPH Gene

Function for AMPH Gene

Molecular function for AMPH Gene

GENATLAS Biochemistry: amphiphysin,nerve terminal,synaptic vesicle associated antigen,involved in synaptic vesicle endocytosis in the nerve terminals,by binding to the coat protein adaptor
UniProtKB/Swiss-Prot Function: May participate in mechanisms of regulated exocytosis in synapses and certain endocrine cell types. May control the properties of the membrane associated cytoskeleton

Gene Ontology (GO) - Molecular Function for AMPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17762867
GO:0005543 phospholipid binding IDA 22750946
genes like me logo Genes that share ontologies with AMPH: view
genes like me logo Genes that share phenotypes with AMPH: view

Animal Models for AMPH Gene

MGI Knock Outs for AMPH:

miRNA for AMPH Gene

miRTarBase miRNAs that target AMPH

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for AMPH Gene

Localization for AMPH Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMPH Gene

Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AMPH Gene COMPARTMENTS Subcellular localization image for AMPH gene
Compartment Confidence
cytoskeleton 5
cytosol 2
endosome 2
nucleus 2
plasma membrane 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for AMPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0008021 synaptic vesicle TAS 1628617
GO:0015629 actin cytoskeleton TAS 9182667
GO:0030054 cell junction IEA --
GO:0030672 synaptic vesicle membrane IEA --
genes like me logo Genes that share ontologies with AMPH: view

Pathways for AMPH Gene

genes like me logo Genes that share pathways with AMPH: view

Pathways by source for AMPH Gene

1 Qiagen pathway for AMPH Gene
2 BioSystems pathways for AMPH Gene
1 KEGG pathway for AMPH Gene

Gene Ontology (GO) - Biological Process for AMPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis TAS 9182667
GO:0007268 synaptic transmission TAS 9182667
GO:0007612 learning IEA --
GO:0048488 synaptic vesicle endocytosis IEA --
genes like me logo Genes that share ontologies with AMPH: view

Compounds for AMPH Gene

(6) Novoseek inferred chemical compound relationships for AMPH Gene

Compound -log(P) Hits PubMed IDs
glutamate 37.2 5
lipid 5.28 2
proline 1.24 3
calcium 0 7
phosphatidylinositol 0 1
genes like me logo Genes that share compounds with AMPH: view

Transcripts for AMPH Gene

Unigene Clusters for AMPH Gene

Amphiphysin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AMPH Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: -
SP2:
SP3:

Relevant External Links for AMPH Gene

GeneLoc Exon Structure for
AMPH
ECgene alternative splicing isoforms for
AMPH

Expression for AMPH Gene

mRNA expression in normal human tissues for AMPH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AMPH Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (6.5), Brain - Anterior cingulate cortex (BA24) (5.8), Brain - Cortex (5.4), and Brain - Cerebellar Hemisphere (4.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AMPH Gene

SOURCE GeneReport for Unigene cluster for AMPH Gene Hs.592182

mRNA Expression by UniProt/SwissProt for AMPH Gene

P49418-AMPH_HUMAN
Tissue specificity: Neurons, certain endocrine cell types and spermatocytes
genes like me logo Genes that share expressions with AMPH: view

Orthologs for AMPH Gene

This gene was present in the common ancestor of animals.

Orthologs for AMPH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AMPH 36
  • 99.42 (n)
  • 99.57 (a)
AMPH 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AMPH 36
  • 89.07 (n)
  • 89.9 (a)
AMPH 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AMPH 36
  • 87.66 (n)
  • 89.12 (a)
AMPH 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Amph 36
  • 84.84 (n)
  • 86.7 (a)
Amph 16
Amph 37
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AMPH 37
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AMPH 37
  • 35 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Amph 36
  • 85.58 (n)
  • 88.12 (a)
chicken
(Gallus gallus)
Aves AMPH 36
  • 72.81 (n)
  • 75.33 (a)
AMPH 37
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AMPH 37
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.14350 36
tropical clawed frog
(Silurana tropicalis)
Amphibia amph 36
  • 67.68 (n)
  • 71.58 (a)
zebrafish
(Danio rerio)
Actinopterygii amph 36
  • 62.51 (n)
  • 62.31 (a)
amph 37
  • 45 (a)
OneToOne
zgc73193 36
fruit fly
(Drosophila melanogaster)
Insecta Amph 37
  • 26 (a)
OneToMany
Amph 38
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea amph-1 36
  • 48.19 (n)
  • 33.43 (a)
amph-1 37
  • 26 (a)
OneToMany
F58G6.1 38
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3172 37
  • 25 (a)
OneToMany
Species with no ortholog for AMPH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AMPH Gene

ENSEMBL:
Gene Tree for AMPH (if available)
TreeFam:
Gene Tree for AMPH (if available)

Paralogs for AMPH Gene

Paralogs for AMPH Gene

Selected SIMAP similar genes for AMPH Gene using alignment to 10 proteins:

Pseudogenes.org Pseudogenes for AMPH Gene

genes like me logo Genes that share paralogs with AMPH: view

Variants for AMPH Gene

Sequence variations from dbSNP and Humsavar for AMPH Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs2810 -- 38,384,727(-) TCTTA(A/G)TGATT utr-variant-3-prime
rs715413 -- 38,394,923(+) AAGTT(C/T)TCAAA intron-variant
rs715414 -- 38,394,764(+) AGTGA(C/G)TTTGT intron-variant
rs720667 -- 38,394,665(+) AACCA(C/T)CTTCC intron-variant
rs720668 -- 38,394,673(+) TCCTT(C/T)TGTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AMPH Gene

Variant ID Type Subtype PubMed ID
dgv2076e1 CNV Complex 17122850
nsv830965 CNV Gain 17160897
nsv830966 CNV Gain 17160897
nsv887964 CNV Loss 21882294
esv273955 CNV Insertion 20981092
nsv526627 CNV Loss 19592680
esv4081 CNV Deletion 18987735
esv2734289 CNV Deletion 23290073
nsv366413 CNV Loss 16902084
esv9560 CNV Loss 19470904
nsv8079 CNV Loss 18304495
esv5062 CNV Deletion 18987735
esv2734290 CNV Deletion 23290073
esv9559 CNV Loss 19470904
esv2671086 CNV Deletion 23128226
esv2734291 CNV Deletion 23290073
esv1963446 CNV Deletion 18987734
esv2734292 CNV Deletion 23290073
esv1006794 CNV Deletion 20482838
nsv365971 CNV Loss 16902084
esv1768159 CNV Deletion 17803354
esv6390 CNV Gain 19470904
esv28274 CNV Gain 19812545
nsv366791 CNV Insertion 16902084

Relevant External Links for AMPH Gene

HapMap Linkage Disequilibrium report
AMPH

Disorders for AMPH Gene

(3) University of Copenhagen DISEASES for AMPH Gene

(12) Novoseek inferred disease relationships for AMPH Gene

Disease -log(P) Hits PubMed IDs
stiff-man syndrome 92.3 16
limbic encephalitis 79.9 1
paraneoplastic syndromes 72.7 3
autoimmunity 55.6 11
rare disease 37.3 2

Relevant External Links for AMPH

Genetic Association Database (GAD)
AMPH
Human Genome Epidemiology (HuGE) Navigator
AMPH
genes like me logo Genes that share disorders with AMPH: view

No data available for UniProtKB/Swiss-Prot for AMPH Gene

Publications for AMPH Gene

  1. Autoimmunity in stiff-man syndrome with breast cancer is targeted to the C-terminal region of human amphiphysin, a protein similar to the yeast proteins, Rvs167 and Rvs161. (PMID: 8076697) David C. … de Camilli P. (FEBS Lett. 1994) 3 4 23
  2. The synaptic vesicle-associated protein amphiphysin is the 128-kD autoantigen of Stiff-Man syndrome with breast cancer. (PMID: 8245793) De Camilli P. … Kilimann M.W. (J. Exp. Med. 1993) 2 3 23
  3. Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic stiff-man syndrome, and mapping of its gene (AMPH) to chromosome 7p13-p14. (PMID: 7757077) Yamamoto R. … Kilimann M.W. (Hum. Mol. Genet. 1995) 3 4 23
  4. Expression of amphiphysin I, an autoantigen of paraneoplastic neurological syndromes, in breast cancer. (PMID: 9513187) Floyd S.R. … De Camilli P.V. (Mol. Med. 1998) 3 4 23
  5. Identification and characterization of a nerve terminal-enriched amphiphysin isoform. (PMID: 9195986) Ramjaun A.R. … McPherson P.S. (J. Biol. Chem. 1997) 3 23

Products for AMPH Gene

  • Addgene plasmids for AMPH

Sources for AMPH Gene

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