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Aliases for AMPH Gene

Aliases for AMPH Gene

  • Amphiphysin 2 3 5
  • 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

Previous GeneCards Identifiers for AMPH Gene

  • GC07M038069
  • GC07M038130
  • GC07M038164
  • GC07M038196
  • GC07M038389
  • GC07M038423
  • GC07M038307
  • GC07M038442
  • GC07M038464

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 Stiff-Person Syndrome and Limbic Encephalitis. Among its related pathways are Monoamine Transport and Beta-Adrenergic Signaling. GO annotations related to this gene include phospholipid binding. 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

Regulatory Elements for AMPH Gene

Enhancers for AMPH Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AMPH on UCSC Golden Path with GeneCards custom track

Promoters for AMPH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AMPH on UCSC Golden Path with GeneCards custom track

Genomic Location for AMPH Gene

Chromosome:
7
Start:
38,383,694 bp from pter
End:
38,631,567 bp from pter
Size:
247,874 bases
Orientation:
Minus strand

Genomic View for AMPH Gene

Genes around AMPH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMPH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMPH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 & Families for AMPH Gene

Graphical View of Domain Structure for InterPro Entry

P49418

UniProtKB/Swiss-Prot:

AMPH_HUMAN :
  • Contains 1 BAR domain.
Domain:
  • Contains 1 BAR domain.
  • Contains 1 SH3 domain.
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:0005086 ARF guanyl-nucleotide exchange factor activity IBA --
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:

Animal Model Products

miRNA for AMPH Gene

miRTarBase miRNAs that target AMPH

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
plasma membrane 5
cytosol 4
golgi apparatus 4
endosome 2
nucleus 2
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for AMPH Gene

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

Pathways & Interactions for AMPH Gene

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

Pathways by source for AMPH Gene

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

SIGNOR curated interactions for AMPH Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for AMPH Gene

None

Drugs & Compounds for AMPH Gene

(3) Drugs for AMPH Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for AMPH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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) (x6.5), Brain - Anterior cingulate cortex (BA24) (x5.8), Brain - Cortex (x5.4), and Brain - Cerebellar Hemisphere (x4.8).

Protein differential expression in normal tissues from HIPED for AMPH Gene

This gene is overexpressed in Brain (41.4) and Frontal cortex (21.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, 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 expression patterns with AMPH: view

Protein tissue co-expression partners for AMPH Gene

- Elite partner

Primer Products

Orthologs for AMPH Gene

This gene was present in the common ancestor of animals.

Orthologs for AMPH Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AMPH 35
  • 89.07 (n)
  • 89.9 (a)
AMPH 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AMPH 35
  • 87.66 (n)
  • 89.12 (a)
AMPH 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Amph 35
  • 84.84 (n)
  • 86.7 (a)
Amph 16
Amph 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AMPH 35
  • 99.42 (n)
  • 99.57 (a)
AMPH 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Amph 35
  • 85.58 (n)
  • 88.12 (a)
oppossum
(Monodelphis domestica)
Mammalia AMPH 36
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AMPH 36
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves AMPH 35
  • 72.81 (n)
  • 75.33 (a)
AMPH 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AMPH 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia amph 35
  • 67.68 (n)
  • 71.58 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14350 35
zebrafish
(Danio rerio)
Actinopterygii amph 35
  • 62.51 (n)
  • 62.31 (a)
zgc73193 35
amph 36
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Amph 37
  • 38 (a)
Amph 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F58G6.1 37
  • 32 (a)
amph-1 35
  • 48.19 (n)
  • 33.43 (a)
amph-1 36
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3172 36
  • 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

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
rs35166354 - 38,466,187(+) TTCCT(C/T)ATGAA reference, missense
rs17171345 - 38,436,278(+) TGAGA(C/G/T)ATGGG reference, missense
rs35024632 - 38,394,126(+) TGGCC(G/T)TCTCC reference, missense
rs887967 -- 38,438,418(+) GACTG(C/T)AGTTG intron-variant
rs891883 -- 38,592,257(-) catga(G/T)catga 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

Variation tolerance for AMPH Gene

Residual Variation Intolerance Score: 32.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.20; 69.83% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for AMPH Gene

Disorders for AMPH Gene

MalaCards: The human disease database

(11) MalaCards diseases for AMPH Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
stiff-person syndrome
  • stiff man syndrome
limbic encephalitis
paraneoplastic polyneuropathy
  • paraneoplastic neuropathy
breast cancer
  • breast cancer, invasive ductal
retinitis pigmentosa 9
  • retinitis pigmentosa-9
- elite association - COSMIC cancer census association via MalaCards
Search AMPH in MalaCards View complete list of genes associated with diseases

Relevant External Links for AMPH

Genetic Association Database (GAD)
AMPH
Human Genome Epidemiology (HuGE) Navigator
AMPH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AMPH
genes like me logo Genes that share disorders with AMPH: view

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

Publications for AMPH Gene

  1. 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 67
  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. Syndapin I and endophilin I bind overlapping proline-rich regions of dynamin I: role in synaptic vesicle endocytosis. (PMID: 17437541) Anggono V. … Robinson P.J. (J. Neurochem. 2007) 3 23
  4. Two mechanistically distinct forms of endocytosis in adrenal chromaffin cells: Differential effects of SH3 domains and amphiphysin antagonism. (PMID: 16696976) Elhamdani A. … Artalejo C.R. (FEBS Lett. 2006) 3 23
  5. Specific interactions of neuronal focal adhesion kinase isoforms with Src kinases and amphiphysin. (PMID: 12558988) Messina S. … Benfenati F. (J. Neurochem. 2003) 3 23

Products for AMPH Gene

  • Addgene plasmids for AMPH

Sources for AMPH Gene

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