AMPH

GENERAL INFORMATION

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Gene name

AMPH

Gene description

Amphiphysin

Protein class

Cancer-related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (cerebral cortex)
GTEx:Group enriched (cerebellum, cerebral cortex, hippocampus)

Protein evidence

Evidence at protein level

Protein localization

Selective and high expression in CNS and peripheral nerves.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 3 antibodies.
HPA019828 , HPA019829 , CAB008559
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (cerebral cortex)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (cerebellum, cerebral cortex, hippocampus)

Organ

Expression



GENE INFORMATION

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Gene name

AMPH

Synonyms

Description

Amphiphysin (HGNC Symbol)

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]

Chromosome

7

Cytoband

p14.1

Chromosome location (bp)

38383704 - 38631567

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000078053 (version 78.38)

Entrez gene

273

UniProt

P49418 (UniProt - Evidence at protein level)

neXtProt

NX_P49418

Antibodypedia

AMPH antibodies


PROTEIN BROWSER

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ENST00000325590
 
ENST00000356264
 
ENST00000441628
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

AMPH-001 ENSP00000348602
ENST00000356264
P49418
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Show » Show » 695 76.3 No 0
AMPH-002 ENSP00000317441
ENST00000325590
P49418
Show all »
Show » Show » 653 71.9 No 0
AMPH-003 ENSP00000415085
ENST00000441628
Q9UQI5
Show all »
Show » Show » 578 61.5 No 0