Version 5.4
Homo sapiens Gene: AMPH
Summary
InnateDB Gene IDBG-12921.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AMPH
Gene Name amphiphysin
Synonyms AMPH1
Species Homo sapiens
Ensembl Gene ENSG00000078053
Encoded Proteins
IDBP-12923
amphiphysin
IDBP-12925
amphiphysin
IDBP-372652
amphiphysin
IDBP-372655
amphiphysin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:38383704-38631567
Strand Reverse strand
Band p14.1
Transcripts
ENST00000325590 ENSP00000317441
ENST00000356264 ENSP00000348602
ENST00000441628 ENSP00000415085
ENST00000450124 ENSP00000400404
ENST00000460887
ENST00000475581
ENST00000471913
ENST00000467580
ENST00000462072
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 66 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 66 [view]
Protein-Protein 64 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 2 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005543 phospholipid binding
Biological Process
GO:0006897 endocytosis
GO:0007268 synaptic transmission
GO:0007612 learning
GO:0048488 synaptic vesicle endocytosis
Cellular Component
GO:0005737 cytoplasm
GO:0008021 synaptic vesicle
GO:0015629 actin cytoskeleton
GO:0030054 cell junction
GO:0030672 synaptic vesicle membrane
GO:0031256 leading edge membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000021314
View Gene Order
ENSBTAG00000031967
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa04666
Fc gamma R-mediated phagocytosis pathway
INOH
PID NCI
erbb1_internalization_pathway
Internalization of ErbB1
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.592182
RefSeq NM_001635 NM_139316 XM_006715691
HUGO
OMIM
CCDS CCDS47574 CCDS5456
HPRD 02687
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca