AMPH amphiphysin [Homo sapiens] - Gene

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Summary

Official Symbol: AMPHprovided by HGNC
Official Full Name: amphiphysinprovided by HGNC
Primary source: HGNC:471
See related: Ensembl:ENSG00000078053; HPRD:02687; MIM:600418; Vega:OTTHUMG00000023725
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AMPH1
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]

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Genomic context

Location :: 7p14-p13

Sequence :: Chromosome: 7; NC_000007.13 (38423297..38671167, complement)

See AMPH in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
Title: Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
structure-based approach to prediction of peptide-binding behavior of SH3 domain of amphiphysin-1: statistical modeling
Title: Toward quantitative characterization of the binding profile between the human amphiphysin-1 SH3 domain and its peptide ligands.
investigation of binding affinities of decapeptide ligands with amphiphysin SH3 domain using QSAR models
Title: Applying chemometrics approaches to model and predict the binding affinities between the human amphiphysin SH3 domain and its peptide ligands.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Analyses of Gaussian distribution models showed that diversified properties contribute to the interactions between the SH3 domain and of amphiphysin and peptides.
Title: Modeling and prediction of binding affinities between the human amphiphysin SH3 domain and its peptide ligands using genetic algorithm-Gaussian processes.
This study demonstrates that the analysis of the molecular interaction energy components between peptides and the SH3 domain can successfully characterize the binding interface.
Title: Characterization of domain-peptide interaction interface: a case study on the amphiphysin-1 SH3 domain.
Female patient with amphiphysin autoantibodies and siff leg syndrome due to small cell cancer of the lung.
Title: Antiamphiphysin-positive stiff-person syndrome associated with small cell lung cancer.
Amphiphysin I (Amph I) is a minibrain kinase/dual-specificity tyrosine phosphorylation-regulated kinase substrate. Amph I phosphorylation changes the recruitment of endophilin at the endocytic sites.
Title: Phosphorylation of amphiphysin I by minibrain kinase/dual-specificity tyrosine phosphorylation-regulated kinase, a kinase implicated in Down syndrome.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_001626.1	NP_003876.1	CDK5R1	BIND	PubMed	Amphiphysin 1 interacts with p35. This interaction was modeled on a demonstrated interaction between human amphiphysin 1 and rat p35.
NP_001626.1			BIND	PubMed	Amphiphysin 1 interacts with p35/Cdk5. This interaction was modeled on a demonstrated interaction between amphiphysin 1 from human and p35/Cdk5 from rat.
P49418	P49418	AMPH	HPRD	PubMed
P49418	O94973	AP2A2	HPRD	PubMed
P49418	O00499	BIN1	HPRD	PubMed
P49418	Q9Y6J0	CABIN1	HPRD	PubMed
P49418	P06493	CDK1	HPRD	PubMed
P49418	Q00535	CDK5	HPRD	PubMed
P49418	Q15078	CDK5R1	HPRD	PubMed
P49418	Q00610	CLTC	HPRD	PubMed
P49418	Q05193	DNM1	HPRD	PubMed
P49418	P50570	DNM2	HPRD	PubMed
P49418	O14939	PLD2	HPRD	PubMed
P49418	Q99962	SH3GL2	HPRD	PubMed
P49418	Q9Y371	SH3GLB1	HPRD	PubMed
P49418	P17600	SYN1	HPRD	PubMed
P49418	O43426	SYNJ1	HPRD	PubMed
P49418	P04004	VTN	HPRD	PubMed
BioGRID:106770	BioGRID:106671	AP1B1	BioGRID	PubMed	Reconstituted Complex
BioGRID:106770	BioGRID:106670	AP2A2	BioGRID	PubMed	Reconstituted Complex
BioGRID:106770	BioGRID:106771	BIN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106770	BioGRID:117070	CABIN1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:106770	BioGRID:114376	CDK5R1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:106770	BioGRID:107623	CLTC	BioGRID	PubMed	Reconstituted Complex
BioGRID:106770	BioGRID:108099	DNM1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:106770	BioGRID:111583	MAPK6	BioGRID	PubMed	Two-hybrid
BioGRID:106770	BioGRID:111353	PLD1	BioGRID	PubMed	Affinity Capture-Western; Phenotypic Suppression; Reconstituted Complex
BioGRID:106770	BioGRID:111354	PLD2	BioGRID	PubMed	Affinity Capture-Western; Phenotypic Suppression; Reconstituted Complex
BioGRID:106770	BioGRID:111719	PTK2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106770	BioGRID:112353	SH3GL2	BioGRID	PubMed	Reconstituted Complex
BioGRID:106770	BioGRID:119289	SH3GLB1	BioGRID	PubMed	Reconstituted Complex
BioGRID:106770	BioGRID:112719	SYN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106770	BioGRID:114388	SYNJ1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:106770	BioGRID:115485	TNK2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:106770	BioGRID:113287	VTN	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
protein C-terminus binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info
protein heterodimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
endocytosis	TAS Traceable Author Statement more info	PubMed
learning	IEA Inferred from Electronic Annotation more info
positive regulation of GTPase activity	IEA Inferred from Electronic Annotation more info
positive regulation of endocytosis	IEA Inferred from Electronic Annotation more info
synaptic transmission	TAS Traceable Author Statement more info	PubMed
synaptic vesicle endocytosis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
actin cytoskeleton	TAS Traceable Author Statement more info	PubMed
axon terminus	IEA Inferred from Electronic Annotation more info
cell junction	IEA Inferred from Electronic Annotation more info
cytoplasm	IEA Inferred from Electronic Annotation more info
cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
synapse	IEA Inferred from Electronic Annotation more info
synaptic vesicle	TAS Traceable Author Statement more info	PubMed
synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: amphiphysin

Names: amphiphysin; amphiphysin I; amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001635.3 → NP_001626.1 amphiphysin isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC007245, BC034376, DA125756, F03887

Consensus CDS

CCDS5456.1

UniProtKB/Swiss-Prot

P49418

Related

ENSP00000348602, OTTHUMP00000135289, ENST00000356264, OTTHUMT00000226953

Conserved Domains (4) summary

cd00174
Location:626 – 693
Blast Score: 119

SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...

smart00721
Location:12 – 233
Blast Score: 515

BAR; BAR domain

cd07611
Location:26 – 236
Blast Score: 1067

BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

PRK10811
Location:428 – 589
Blast Score: 97

rne; ribonuclease E; Reviewed
NM_139316.2 → NP_647477.1 amphiphysin isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon within the coding region compared to variant 1, resulting in a shorter protein (isoform 2).

Source sequence(s)

AF034996, DA125756, F03887

Consensus CDS

CCDS47574.1

UniProtKB/Swiss-Prot

P49418

Related

ENSP00000317441, OTTHUMP00000207238, ENST00000325590, OTTHUMT00000338408

Conserved Domains (4) summary

cd00174
Location:584 – 651
Blast Score: 119

SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...

smart00721
Location:12 – 233
Blast Score: 514

BAR; BAR domain

cd07611
Location:26 – 236
Blast Score: 1065

BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

PRK10811
Location:455 – 584
Blast Score: 91

rne; ribonuclease E; Reviewed

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p5 Primary Assembly

Range

38423297..38671167, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

38307292..38555371, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

38460969..38708834, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC007245.3	AAS07541.1
genomic	AC011309.5	AAS07391.1
genomic	AC012490.3	AAS07563.1
genomic	AC096581.1	None
genomic	AF099116.1	AAD16283.1
genomic	AF099117.1	AAD16284.1
genomic	AF099119.1	AAD16285.1
genomic	AF099120.1	AAD16282.1
genomic	CH236951.1	EAL23989.1
		EAL23990.1
genomic	CH471073.1	EAW94110.1
		EAW94111.1
mRNA	AF034996.1	AAC02977.1
mRNA	AF498092.1	AAM44806.1
mRNA	AF498093.1	AAM44807.1
mRNA	AF498094.1	AAM44808.1
mRNA	AF498095.1	AAM44809.1
mRNA	AF498096.1	AAM44810.1
mRNA	AF498097.1	AAM44811.1
mRNA	AK291447.1	BAF84136.1
mRNA	BC034376.1	AAH34376.1
mRNA	DA125756.1	None
mRNA	F03887.1	None
mRNA	U07616.1	AAA21865.1
mRNA	X81438.1	CAA57197.1
other-genetic	JF432280.1	ADZ15497.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P49418.1	GenPept	UniProtKB/Swiss-Prot:P49418
Q8NFL3	GenPept	UniProtKB/TrEMBL:Q8NFL3
Q8NFL4	GenPept	UniProtKB/TrEMBL:Q8NFL4
Q8NFL5	GenPept	UniProtKB/TrEMBL:Q8NFL5
Q8NFL6	GenPept	UniProtKB/TrEMBL:Q8NFL6
Q8NFL7	GenPept	UniProtKB/TrEMBL:Q8NFL7
Q8NFL8	GenPept	UniProtKB/TrEMBL:Q8NFL8
Q9UQI2	GenPept	UniProtKB/TrEMBL:Q9UQI2
Q9UQI3	GenPept	UniProtKB/TrEMBL:Q9UQI3
Q9UQI4	GenPept	UniProtKB/TrEMBL:Q9UQI4
Q9UQI5	GenPept	UniProtKB/TrEMBL:Q9UQI5