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AMPH

GENERAL INFORMATION

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

RNA tissue category
HPA:Tissue enriched (cerebral cortex)
GTEx:Tissue enhanced (cerebellum, cerebral cortex)
FANTOM5:Tissue enhanced (brain, cerebellum, pituitary gland)

Protein evidence

 Evidence at protein level

Protein expression

 Selective and high expression in CNS and peripheral nerves.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 3 antibodies.
HPA019828 , HPA019829 , CAB008559
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (cerebral cortex)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (cerebellum, cerebral cortex)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (brain, cerebellum, pituitary gland)

GENE INFORMATION

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 83.38)

Entrez gene

 273

UniProt

 P49418 (UniProt - Evidence at protein level)

neXtProt

 NX_P49418

Antibodypedia

 AMPH antibodies

PROTEIN BROWSER
AMPH-001
AMPH-002
AMPH-003

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
AMPH-001
ENSP00000348602
ENST00000356264
P49418 [Direct mapping]
Amphiphysin
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005737 [cytoplasm]
GO:0006897 [endocytosis]
GO:0007268 [synaptic transmission]
GO:0007612 [learning]
GO:0008021 [synaptic vesicle]
GO:0015629 [actin cytoskeleton]
GO:0030054 [cell junction]
GO:0030672 [synaptic vesicle membrane]
GO:0031256 [leading edge membrane]
GO:0048488 [synaptic vesicle endocytosis]
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 695 aa
76.3 kDa 		No 0
AMPH-002
ENSP00000317441
ENST00000325590
P49418 [Direct mapping]
Amphiphysin
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005737 [cytoplasm]
GO:0006897 [endocytosis]
GO:0007268 [synaptic transmission]
GO:0008021 [synaptic vesicle]
GO:0015629 [actin cytoskeleton]
GO:0030054 [cell junction]
GO:0030672 [synaptic vesicle membrane]
GO:0031256 [leading edge membrane]
Show all
 653 aa
71.9 kDa 		No 0
AMPH-003
ENSP00000415085
ENST00000441628
H0Y7T8 [Direct mapping]
Amphiphysin
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
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 578 aa
61.5 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.