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P49418 (AMPH_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 137. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Amphiphysin
Gene names
Name:AMPH
Synonyms:AMPH1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length695 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Heterodimer with BIN1. Binds SH3GLB1 and AP2A2 By similarity. Interacts with AP2B1. Interacts with REPS1 and SGIP1; may be involved in clathrin-mediated endocytosis. Ref.8 Ref.9

Subcellular location

Cytoplasmic vesiclesecretory vesiclesynaptic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmcytoskeleton.

Tissue specificity

Neurons, certain endocrine cell types and spermatocytes.

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.

Sequence similarities

Contains 1 BAR domain.

Contains 1 SH3 domain.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

CltaP080813EBI-7121510,EBI-916140From a different organism.
Necap1P696823EBI-7121510,EBI-7592718From a different organism.
Necap1Q9CR956EBI-7121510,EBI-7592476From a different organism.
Tfap2aP581972EBI-7121510,EBI-7069641From a different organism.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P49418-1)

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.
Isoform 2 (identifier: P49418-2)

Also known as: 108 kDa;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 695695Amphiphysin
PRO_0000192947

Regions

Domain24 – 240217BAR
Domain622 – 69574SH3
Coiled coil10 – 8374 Potential
Coiled coil144 – 19148 Potential

Amino acid modifications

Modified residue5061Phosphoserine By similarity

Natural variations

Alternative sequence425 – 46642Missing in isoform 2.
VSP_000245
Natural variant2181K → E.
Corresponds to variant rs35166354 [ dbSNP | Ensembl ].
VAR_053004
Natural variant3761M → I.
Corresponds to variant rs17171345 [ dbSNP | Ensembl ].
VAR_053005
Natural variant4961K → T. Ref.7
Corresponds to variant rs35024632 [ dbSNP | Ensembl ].
VAR_053006

Secondary structure

................. 695
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (128 kDa) [UniParc].

Last modified February 1, 1996. Version 1.
Checksum: 78B4F75AB75BA357

FASTA69576,257
        10         20         30         40         50         60 
MADIKTGIFA KNVQKRLNRA QEKVLQKLGK ADETKDEQFE EYVQNFKRQE AEGTRLQREL 

        70         80         90        100        110        120 
RGYLAAIKGM QEASMKLTES LHEVYEPDWY GREDVKMVGE KCDVLWEDFH QKLVDGSLLT 

       130        140        150        160        170        180 
LDTYLGQFPD IKNRIAKRSR KLVDYDSARH HLEALQSSKR KDESRISKAE EEFQKAQKVF 

       190        200        210        220        230        240 
EEFNVDLQEE LPSLWSRRVG FYVNTFKNVS SLEAKFHKEI AVLCHKLYEV MTKLGDQHAD 

       250        260        270        280        290        300 
KAFTIQGAPS DSGPLRIAKT PSPPEEPSPL PSPTASPNHT LAPASPAPAR PRSPSQTRKG 

       310        320        330        340        350        360 
PPVPPLPKVT PTKELQQENI ISFFEDNFVP EISVTTPSQN EVPEVKKEET LLDLDFDPFK 

       370        380        390        400        410        420 
PEVTPAGSAG VTHSPMSQTL PWDLWTTSTD LVQPASGGSF NGFTQPQDTS LFTMQTDQSM 

       430        440        450        460        470        480 
ICNLAESEQA PPTEPKAEEP LAAVTPAVGL DLGMDTRAEE PVEEAVIIPG ADADAAVGTL 

       490        500        510        520        530        540 
VSAAEGAPGE EAEAEKATVP AGEGVSLEEA KIGTETTEGA ESAQPEAEEL EATVPQEKVI 

       550        560        570        580        590        600 
PSVVIEPASN HEEEGENEIT IGAEPKETTE DAAPPGPTSE TPELATEQKP IQDPQPTPSA 

       610        620        630        640        650        660 
PAMGAADQLA SAREASQELP PGFLYKVETL HDFEAANSDE LTLQRGDVVL VVPSDSEADQ 

       670        680        690 
DAGWLVGVKE SDWLQYRDLA TYKGLFPENF TRRLD 

« Hide

Isoform 2 (108 kDa) [UniParc].

Checksum: 44C1115E3E70B6A9
Show »

FASTA65371,929

References

« Hide 'large scale' references
[1]"Autoimmunity in stiff-man syndrome with breast cancer is targeted to the C-terminal region of human amphiphysin, a protein similar to the yeast proteins, Rvs167 and Rvs161."
David C., Solimena M., de Camilli P.
FEBS Lett. 351:73-79(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Cerebellum.
[2]"Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic stiff-man syndrome, and mapping of its gene (AMPH) to chromosome 7p13-p14."
Yamamoto R., Li X., Winter S., Francke U., Kilimann M.W.
Hum. Mol. Genet. 4:265-268(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Brain.
[3]"Expression of amphiphysin I, an autoantigen of paraneoplastic neurological syndromes, in breast cancer."
Floyd S.R., Butler M.H., Cremona O., David C., Freyberg Z., Zhang X., Solimena M., Tokunaga A., Ishizu H., Tsutsui K., De Camilli P.V.
Mol. Med. 4:29-39(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Mammary gland.
[4]"Human chromosome 7: DNA sequence and biology."
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. expand/collapse author list , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT THR-496.
Tissue: Brain.
[8]"Role of the AP2 beta-appendage hub in recruiting partners for clathrin-coated vesicle assembly."
Schmid E.M., Ford M.G.J., Burtey A., Praefcke G.J.K., Peak-Chew S.-Y., Mills I.G., Benmerah A., McMahon H.T.
PLoS Biol. 4:E262-E262(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH AP2B1.
[9]"Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits."
Dergai O., Novokhatska O., Dergai M., Skrypkina I., Tsyba L., Moreau J., Rynditch A.
Biochem. Biophys. Res. Commun. 402:408-413(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH REPS1 AND SGIP1.
[10]"Accessory protein recruitment motifs in clathrin-mediated endocytosis."
Brett T.J., Traub L.M., Fremont D.H.
Structure 10:797-809(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.15 ANGSTROMS) OF 322-330 IN COMPLEX WITH AP2A2.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRS62400.
RefSeqNP_001626.1. NM_001635.3.
NP_647477.1. NM_139316.2.
UniGeneHs.592182.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1KY7X-ray2.15P322-331[»]
1UTCX-ray2.30P/Q379-387[»]
3SOGX-ray2.30A34-236[»]
4ATMX-ray1.78A1-242[»]
ProteinModelPortalP49418.
SMRP49418. Positions 19-239, 618-694.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106770. 40 interactions.
DIPDIP-40729N.
IntActP49418. 8 interactions.
MINTMINT-109264.
STRING9606.ENSP00000348602.

PTM databases

PhosphoSiteP49418.

Polymorphism databases

DMDM1351924.

Proteomic databases

PaxDbP49418.
PRIDEP49418.

Protocols and materials databases

DNASU273.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000325590; ENSP00000317441; ENSG00000078053. [P49418-2]
ENST00000356264; ENSP00000348602; ENSG00000078053. [P49418-1]
GeneID273.
KEGGhsa:273.
UCSCuc003tgu.3. human. [P49418-1]
uc003tgv.3. human. [P49418-2]

Organism-specific databases

CTD273.
GeneCardsGC07M038423.
HGNCHGNC:471. AMPH.
HPACAB008559.
HPA019828.
HPA019829.
MIM600418. gene.
neXtProtNX_P49418.
PharmGKBPA24779.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG264615.
HOVERGENHBG004224.
KOK12562.
OMAMICNLAE.
OrthoDBEOG7XWPND.
PhylomeDBP49418.
TreeFamTF313542.

Gene expression databases

ArrayExpressP49418.
BgeeP49418.
CleanExHS_AMPH.
GenevestigatorP49418.

Family and domain databases

Gene3D1.20.1270.60. 1 hit.
InterProIPR027267. AH/BAR-dom.
IPR003005. Amphiphysin.
IPR003017. Amphiphysin_1.
IPR004148. BAR_dom.
IPR001452. SH3_domain.
[Graphical view]
PfamPF03114. BAR. 1 hit.
[Graphical view]
PRINTSPR01251. AMPHIPHYSIN.
PR01252. AMPHIPHYSIN1.
PR00452. SH3DOMAIN.
SMARTSM00721. BAR. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMSSF50044. SSF50044. 1 hit.
PROSITEPS51021. BAR. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceP49418.
GeneWikiAmphiphysin.
GenomeRNAi273.
NextBio1081.
PMAP-CutDBP49418.
PROP49418.
SOURCESearch...

Entry information

Entry nameAMPH_HUMAN
AccessionPrimary (citable) accession number: P49418
Secondary accession number(s): A4D1X8 expand/collapse secondary AC list , A4D1X9, O43538, Q75MJ8, Q75MK5, Q75MM3, Q8N4G0
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: April 16, 2014
This is version 137 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM