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Protein

Amphiphysin

Gene

AMPH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May participate in mechanisms of regulated exocytosis in synapses and certain endocrine cell types. May control the properties of the membrane associated cytoskeleton.

Miscellaneous

Antibodies against AMPH are detected in patients with stiff-man syndrome, a rare disease of the central nervous system characterized by progressive rigidity of the body musculature with superimposed painful spasms.

GO - Molecular functioni

  • phospholipid binding Source: FlyBase

GO - Biological processi

  • chemical synaptic transmission Source: ProtInc
  • endocytosis Source: ProtInc
  • membrane organization Source: Reactome

Enzyme and pathway databases

ReactomeiR-HSA-8856828 Clathrin-mediated endocytosis
SIGNORiP49418

Names & Taxonomyi

Protein namesi
Recommended name:
Amphiphysin
Gene namesi
Name:AMPH
Synonyms:AMPH1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000078053.16
HGNCiHGNC:471 AMPH
MIMi600418 gene
neXtProtiNX_P49418

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Membrane, Synapse

Pathology & Biotechi

Organism-specific databases

DisGeNETi273
OpenTargetsiENSG00000078053
PharmGKBiPA24779

Polymorphism and mutation databases

BioMutaiAMPH
DMDMi1351924

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001929471 – 695AmphiphysinAdd BLAST695

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei252PhosphoserineBy similarity1
Modified residuei260PhosphothreonineBy similarity1
Modified residuei262PhosphoserineBy similarity1
Modified residuei268PhosphoserineBy similarity1
Modified residuei272PhosphoserineBy similarity1
Modified residuei276PhosphoserineBy similarity1
Modified residuei280PhosphothreonineBy similarity1
Modified residuei506PhosphoserineBy similarity1
Modified residuei638PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP49418
MaxQBiP49418
PaxDbiP49418
PeptideAtlasiP49418
PRIDEiP49418
ProteomicsDBi56004
56005 [P49418-2]

PTM databases

iPTMnetiP49418
PhosphoSitePlusiP49418

Miscellaneous databases

PMAP-CutDBiP49418

Expressioni

Tissue specificityi

Neurons, certain endocrine cell types and spermatocytes.

Gene expression databases

BgeeiENSG00000078053
CleanExiHS_AMPH
ExpressionAtlasiP49418 baseline and differential
GenevisibleiP49418 HS

Organism-specific databases

HPAiCAB008559
HPA019828
HPA019829

Interactioni

Subunit structurei

Heterodimer with BIN1. Binds SH3GLB1 and AP2A2 (By similarity). Interacts with AP2B1. Interacts with REPS1 and SGIP1; may be involved in clathrin-mediated endocytosis.By similarity3 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi106770, 50 interactors
DIPiDIP-40729N
ELMiP49418
IntActiP49418, 17 interactors
MINTiP49418
STRINGi9606.ENSP00000348602

Structurei

Secondary structure

1695
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi20 – 22Combined sources3
Helixi24 – 84Combined sources61
Helixi92 – 115Combined sources24
Helixi117 – 126Combined sources10
Helixi128 – 156Combined sources29
Helixi163 – 196Combined sources34
Helixi198 – 237Combined sources40
Helixi382 – 384Combined sources3

3D structure databases

ProteinModelPortaliP49418
SMRiP49418
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP49418

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini24 – 240BARPROSITE-ProRule annotationAdd BLAST217
Domaini622 – 695SH3PROSITE-ProRule annotationAdd BLAST74

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili10 – 83Sequence analysisAdd BLAST74
Coiled coili144 – 191Sequence analysisAdd BLAST48

Keywords - Domaini

Coiled coil, SH3 domain

Phylogenomic databases

eggNOGiKOG3771 Eukaryota
ENOG410ZBW1 LUCA
GeneTreeiENSGT00390000017588
HOVERGENiHBG004224
InParanoidiP49418
KOiK12562
OMAiMICNLAE
OrthoDBiEOG091G07IE
PhylomeDBiP49418
TreeFamiTF313542

Family and domain databases

CDDicd12140 SH3_Amphiphysin_I, 1 hit
Gene3Di1.20.1270.60, 1 hit
InterProiView protein in InterPro
IPR027267 AH/BAR_dom_sf
IPR003005 Amphiphysin
IPR003017 Amphiphysin_1
IPR035470 Amphiphysin_I_SH3
IPR004148 BAR_dom
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PANTHERiPTHR44669 PTHR44669, 1 hit
PfamiView protein in Pfam
PF03114 BAR, 1 hit
PRINTSiPR01251 AMPHIPHYSIN
PR01252 AMPHIPHYSIN1
PR00452 SH3DOMAIN
SMARTiView protein in SMART
SM00721 BAR, 1 hit
SM00326 SH3, 1 hit
SUPFAMiSSF103657 SSF103657, 1 hit
SSF50044 SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS51021 BAR, 1 hit
PS50002 SH3, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P49418-1) [UniParc]FASTAAdd to basket
Also known as: 128 kDa

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MADIKTGIFA KNVQKRLNRA QEKVLQKLGK ADETKDEQFE EYVQNFKRQE
60 70 80 90 100
AEGTRLQREL RGYLAAIKGM QEASMKLTES LHEVYEPDWY GREDVKMVGE
110 120 130 140 150
KCDVLWEDFH QKLVDGSLLT LDTYLGQFPD IKNRIAKRSR KLVDYDSARH
160 170 180 190 200
HLEALQSSKR KDESRISKAE EEFQKAQKVF EEFNVDLQEE LPSLWSRRVG
210 220 230 240 250
FYVNTFKNVS SLEAKFHKEI AVLCHKLYEV MTKLGDQHAD KAFTIQGAPS
260 270 280 290 300
DSGPLRIAKT PSPPEEPSPL PSPTASPNHT LAPASPAPAR PRSPSQTRKG
310 320 330 340 350
PPVPPLPKVT PTKELQQENI ISFFEDNFVP EISVTTPSQN EVPEVKKEET
360 370 380 390 400
LLDLDFDPFK PEVTPAGSAG VTHSPMSQTL PWDLWTTSTD LVQPASGGSF
410 420 430 440 450
NGFTQPQDTS LFTMQTDQSM ICNLAESEQA PPTEPKAEEP LAAVTPAVGL
460 470 480 490 500
DLGMDTRAEE PVEEAVIIPG ADADAAVGTL VSAAEGAPGE EAEAEKATVP
510 520 530 540 550
AGEGVSLEEA KIGTETTEGA ESAQPEAEEL EATVPQEKVI PSVVIEPASN
560 570 580 590 600
HEEEGENEIT IGAEPKETTE DAAPPGPTSE TPELATEQKP IQDPQPTPSA
610 620 630 640 650
PAMGAADQLA SAREASQELP PGFLYKVETL HDFEAANSDE LTLQRGDVVL
660 670 680 690
VVPSDSEADQ DAGWLVGVKE SDWLQYRDLA TYKGLFPENF TRRLD
Length:695
Mass (Da):76,257
Last modified:February 1, 1996 - v1
Checksum:i78B4F75AB75BA357
GO
Isoform 2 (identifier: P49418-2) [UniParc]FASTAAdd to basket
Also known as: 108 kDa

The sequence of this isoform differs from the canonical sequence as follows:
     425-466: Missing.

Show »
Length:653
Mass (Da):71,929
Checksum:i44C1115E3E70B6A9
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053004218K → E. Corresponds to variant dbSNP:rs35166354Ensembl.1
Natural variantiVAR_053005376M → I. Corresponds to variant dbSNP:rs17171345Ensembl.1
Natural variantiVAR_053006496K → T1 PublicationCorresponds to variant dbSNP:rs35024632Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_000245425 – 466Missing in isoform 2. 1 PublicationAdd BLAST42

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U07616 mRNA Translation: AAA21865.1
X81438 mRNA Translation: CAA57197.1
AF034996 mRNA Translation: AAC02977.1
AC011309 Genomic DNA Translation: AAS07391.1
AC012490 Genomic DNA Translation: AAS07563.1
AC007245 Genomic DNA Translation: AAS07541.1
CH236951 Genomic DNA Translation: EAL23989.1
CH236951 Genomic DNA Translation: EAL23990.1
CH471073 Genomic DNA Translation: EAW94110.1
CH471073 Genomic DNA Translation: EAW94111.1
BC034376 mRNA Translation: AAH34376.1
CCDSiCCDS47574.1 [P49418-2]
CCDS5456.1 [P49418-1]
PIRiS62400
RefSeqiNP_001626.1, NM_001635.3 [P49418-1]
NP_647477.1, NM_139316.2 [P49418-2]
UniGeneiHs.592182

Genome annotation databases

EnsembliENST00000325590; ENSP00000317441; ENSG00000078053 [P49418-2]
ENST00000356264; ENSP00000348602; ENSG00000078053 [P49418-1]
GeneIDi273
KEGGihsa:273
UCSCiuc003tgu.4 human [P49418-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAMPH_HUMAN
AccessioniPrimary (citable) accession number: P49418
Secondary accession number(s): A4D1X8
, A4D1X9, O43538, Q75MJ8, Q75MK5, Q75MM3, Q8N4G0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: July 18, 2018
This is version 179 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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