AMPH Gene
protein-coding GIFtS : 62
GC07M038389
amphiphysin (Previous names: amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen), amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen) )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases & Descriptions for AMPH
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases AMPH1 2 , 3 amphiphysin 2
Descriptions Stiff-Man syndrome with breast cancer 128kDa autoantigen 2 amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen) 1 amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen) 1 , 2
Search outside databases for aliases for AMPH genePrevious GC identifers: GC07M038069 GC07M038130 GC07M038164 GC07M038196
Summaries for AMPH (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for AMPH : This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subsetof patients with stiff-man syndrome who were also affected by breast cancer are positive forautoantibodies against this protein. Alternate splicing of this gene results in two transcriptvariants encoding different isoforms. Additional splice variants have been described, but theirfull length sequences have not been determined. [provided by RefSeq] UniProtKB/Swiss-Prot: AMPH_HUMAN, P49418 Function : May participate in mechanisms of regulated exocytosis in synapses and certain endocrinecell types. May control the properties of the membrane associated cytoskeleton
Gene Wiki entry for AMPH (Amphiphysin)
Genomic Location for AMPH
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the AMPH gene Entrez Gene cytogenetic band: 7p14-p13 Ensembl cytogenetic band: 7p14.1 HGNC cytogenetic band: 7p14-p13 AMPH Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 7 GeneLoc Exon Structure
GeneLoc location for GC07M038389:
(about GC identifiers )
Start:
38,389,830 bp from pter
End:
38,637,545 bp from pter
Size:
247,716 bases
Orientation:
minus strand
1 alternative location : Chr 7-,CRA_TCAG 38,460,977-38,708,687
RefSeq DNA sequence: NC_000007.12 NT_007819.16 NT_079592.2 Proteins for AMPH
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: AMPH_HUMAN, P49418 (See
protein sequence )Recommended Name: Amphiphysin Size : 695 amino acids; 76257 Da
Subunit : Heterodimer with BIN1. Binds SH3GLB1 and AP2A2 (By similarity)
Subcellular location : Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheralmembrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton
PDB structure from and Proteopedia : 1KY7 (3D)
 1UTC (3D)
 
Secondary accessions : O43538 Q75MJ8 Q75MK5 Q75MM3 Q8N4G0Alternative splicing : 2 isoforms : P49418-1 P49418-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001626.1 NP_647477.1 ENSEMBL proteins: ENSP00000342268 ENSP00000317441 ENSP00000348602 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7
):
About this table Antibodies for AMPH: Assays for AMPH:
Protein
Domains/ Families for AMPH(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P49418 ProtoNet protein and cluster: P49418
3 Blocks protein families : IPB001452 SH3 domain signature IPB003005 Amphiphysin signature IPB003017 Amphiphysin isoform 1 signature UniProtKB/Swiss-Prot: AMPH_HUMAN, P49418 Similarity : Contains 1 BAR domainSimilarity : Contains 1 SH3 domain
Gene Function for AMPH
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_139316 Applied Biosystems Silencer ® siRNAs for AMPH Sigma-Aldrich siRNA for AMPH Sigma-Aldrich shRNA Panels and shRNA for AMPH Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001635                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001635                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001635  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001635 UniProtKB/Swiss-Prot: AMPH_HUMAN, P49418 Function : May participate in mechanisms of regulated exocytosis in synapses and certain endocrinecell types. May control the properties of the membrane associated cytoskeleton
Genatlas biochemistry entry for AMPH :amphiphysin,nerve terminal,synaptic vesicle associated antigen,involved in synaptic vesicleendocytosis in the nerve terminals,by binding to the coat protein adaptor
4 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Amph) :1 Gene Ontology (GO) molecular function term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005515 protein binding
IEA --
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Pathways & Interactions for AMPH
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for AMPH (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for AMPH 5/40 Interacting proteins for AMPH (P49418 2 ENSP00000317441 3 ) via UniProtKB, MINT, and/or STRING (see all 40
)About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for AMPH (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for AMPH 4 Novoseek chemical compound relationships for AMPH gene
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Transcripts for AMPH(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_139316 Sigma-Aldrich siRNA for AMPH Sigma-Aldrich shRNA Panels and shRNA for AMPH Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001635 NM_139316
REFSEQ mRNAs for AMPH gene (2 alternative transcripts): NM_001635.2 NM_139316.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001635 NM_139316
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001635                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001635                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001635  
Additional cDNA sequence: AF034996.1 AF498092.1 AF498093.1 AF498094.1 AF498095.1 AF498096.1 AF498097.1 AK291447.1 BC034376.1 U07616.1 X81438.1
8 DOTS entries : DT.95265452 DT.216480 DT.100778700 DT.95265450 DT.100024283 DT.100024285 DT.100024288 DT.121071504
24/82 AceView cDNA sequences (see all 82
):AA757605 F06517 AA349856 BI822061 AF034996 AF498096 F03887 AF498092 F03327 F10677 AA933764 Z39467 AL119578 BM929628 NM_001635 BC034376 F03194 BM673566 BM978301 AA620426 NM_139316 AF498097 AF498094 BI552938
highest scoring ESTs for AMPH :U07616 AF034996 AF498097 AW160829 BC034376 BI822061 BM543458 X81438 AA349856 AA620426
Unigene Cluster for AMPH: Amphiphysin Hs.592182 [show with all ESTs ] Unigene Representative Sequence: NM_001635 GeneLoc Exon Structure 3 Alternative Splicing Database (ASD) splice patterns (SP) for AMPH ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 SP1 :         -           SP2 :                   SP3 :                  
About this scheme ECgene alternative splicing isoforms for AMPH 3 Ensembl transcripts including schematic representations : ENST00000353242
ENST00000325590
ENST00000356264
Expression for AMPH
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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AMPH expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for AMPH 1 / 2 / 3
3 probe-sets matching AMPH gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CATTGCTCTTSOURCE GeneReport for Unigene cluster: Hs.592182 Expression variation in blood from EXPOLDB for AMPH
UniProtKB/Swiss-Prot: AMPH_HUMAN, P49418 Tissue specificity : Neurons, certain endocrine cell types and spermatocytes
Orthologs for AMPH
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for AMPH gene from 5/9 species (see all 9
)
About this table Species with no ortholog for AMPH ENSEMBL Gene Tree for AMPH Paralogs for AMPH (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for AMPH gene BIN1 2 BIN2 2
SNPs/Variants for AMPH (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for AMPH (up to first 250kb)
Disorders & Mutations for AMPH
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 600418 UniProtKB/Swiss-Prot: AMPH_HUMAN, P49418
Antibodies against AMPH are detected in patients with stiff-man syndrome, a rare diseaseof the central nervous system characterized by progressive rigidity of the body musculature withsuperimposed painful spasms
10/11 Novoseek disease relationships for AMPH gene (see all 11
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
stiff-man syndrome
90.28
14
7757077 (2), 15836889 (2), 8076697 (2), 18971449 (2) (see all 9 )
paraneoplastic syndromes
71.91
3
9443464 (1), 12846868 (1), 19398941 (1)
autoimmunity
57.38
11
14755734 (2), 8245793 (1), 9443464 (1), 7757077 (1) (see all 10 )
rare disease
33.26
1
18971449 (1)
autoimmune diseases
32.58
2
15836889 (1), 11748137 (1)
breast carcinoma
27.31
2
8619552 (1), 12846868 (1)
breast cancer
27.29
9
8076697 (2), 9443464 (1), 18971449 (1), 12846868 (1) (see all 8 )
lung carcinoma
26.73
1
8619552 (1)
cancer
3.16
3
9513187 (1), 14755734 (1)
neurological disorders
0.00
1
16567945 (1)
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Medical News for AMPH (Possibly Related Articles in
Doctor's Guide )
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--
Publications for AMPH (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/131 PubMed articles for AMPH gene (see all 131
): Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic stiff-man syndrome, and mapping of its gene (AMPH) to chromosome 7p13-p14. (PubMed id 7757077) 1, 3, 4 Yamamoto R.... Kilimann M.W. (1995) 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. (PubMed id 8076697) 1, 3, 4 David C.... de Camilli P. (1994) The synaptic vesicle-associated protein amphiphysin is the 128-kD autoantigen of Stiff-Man syndrome with breast cancer. (PubMed id 8245793) 1, 2, 3 De Camilli P....Bottazzo G. (1993) Expression of amphiphysin I, an autoantigen of paraneoplastic neurological syndromes, in breast cancer. (PubMed id 9513187) 1, 3, 4 Floyd S.R.... De Camilli P.V. (1998) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) The DNA sequence of human chromosome 7. (PubMed id 12853948) 3, 4 Hillier L.W.... Wilson R.K. (2003) Accessory protein recruitment motifs in clathrin-mediated endocytosis. (PubMed id 12057195) 3, 4 Brett T.J.... Fremont D.H. (2002) Amphiphysin heterodimers: potential role in clathrin-mediated endocytosis. (PubMed id 9348539) 1, 3 Wigge P....McMahon H.T. (1997) A putative role for intramolecular regulatory mechanisms in the adaptor function of amphiphysin in endocytosis. (PubMed id 14529717) 1, 3 Farsad K....Hauke V. (2003) The SH3 domain of amphiphysin binds the proline-rich domain of dynamin at a single site that defines a new SH3 binding consensus sequence. (PubMed id 9148966) 1, 3 Grabs D....De Camilli P. (1997)
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Genome Databases showing AMPH
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing AMPH
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Specialized Databases showing AMPH (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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