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Amph
Gene Detail
Symbol

Name
ID
Amph
amphiphysin
MGI:103574
Feature Type
protein coding gene
Genetic Map
Chromosome 13
6.89 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr13:18948371-19150913 bp, + strand
From Ensembl annotation of GRCm38

  202543 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:121585  Vertebrate Homology Class
1 human; 1 mouse; 2 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: AMPH
Gene Tree: Amph

Human
homologs
AMPH, amphiphysin
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 273
neXtProt AC: NX_P49418

Human Synonyms: AMPH1

Human Chr (Location): 7p14-p13; chr7:38383694-38631567 (-)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(2) Radiation induced(1) Targeted(3)
Genomic Mutations involving Amph (1)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a targeted mutation of this gene exhibit learning deficits and synaptic vesicle recycling defects, and die between 2 to 5 months of age from rare irreversible seizures.
 
Interactions
Amph interacts with 242 markers (Mir1a-1, Mir1a-2, Mir15a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (20 annotations)
Process learning, synaptic vesicle endocytosis
Component axon terminus, cell, ...
Function phospholipid binding, protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (22)    Tissues (22)    Images (2)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 21
RT-PCR 1
cDNA source data(46)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase amph ; ZFIN amph    NEW 
Molecular
reagents
All nucleic(48) cDNA(47) Primer pair(1)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000021314 (Evidence)
Entrez Gene 218038 (Evidence)
UniGene 101650
DFCI TC1596118, TC1575858, TC1601312
DoTS DT.103562549, DT.101725192, DT.50316707
NIA Mouse Gene Index U014580
Consensus CDS Project CCDS26258.1
International Mouse Phenotyping Consortium Status Amph
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021314 Ensembl Gene Model | MGI Sequence Detail 202543 C57BL/6J ±  kb
transcript ENSMUST00000003345 Ensembl | MGI Sequence Detail 3193 Not Applicable 
polypeptide ENSMUSP00000003345 Ensembl | MGI Sequence Detail 686 Not Applicable 

For the selected sequences
All sequences(28) RefSeq(6) UniProt(3)
Polymorphisms
RFLP(1) : SNPs within 2kb(1774 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003005 Amphiphysin
InterPro IPR003017 Amphiphysin, isoform 1
InterPro IPR027267 Arfaptin homology (AH) domain/BAR domain
InterPro IPR004148 BAR domain
InterPro IPR001452 Src homology-3 domain
Protein Ontology PR:000004004 amphiphysin
References
(Earliest) J:28029 Jenkins NA, et al., Amphiphysin (Amph) maps to the proximal region of mouse chromosome 13. Genomics. 1995 Jul 20;28(2):363-5
(Latest) J:207609 Hilliard SA, et al., Mdm2 is required for maintenance of the nephrogenic niche. Dev Biol. 2014 Mar 1;387(1):1-14
All references(40)
Other
accession IDs
MGD-MRK-24459

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/30/2015
MGI 5.22
The Jackson Laboratory