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Q99963

- SH3G3_HUMAN

UniProt

Q99963 - SH3G3_HUMAN

Protein

Endophilin-A3

Gene

SH3GL3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 1 (01 May 1997)
      Previous versions | rss
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    Functioni

    Implicated in endocytosis. May recruit other proteins to membranes with high curvature By similarity.By similarity

    GO - Molecular functioni

    1. identical protein binding Source: IntAct
    2. lipid binding Source: UniProtKB-KW
    3. protein binding Source: UniProtKB

    GO - Biological processi

    1. central nervous system development Source: ProtInc
    2. endocytosis Source: UniProtKB-KW
    3. signal transduction Source: ProtInc

    Keywords - Biological processi

    Endocytosis

    Keywords - Ligandi

    Lipid-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Endophilin-A3
    Alternative name(s):
    EEN-B2
    Endophilin-3
    SH3 domain protein 2C
    SH3 domain-containing GRB2-like protein 3
    Gene namesi
    Name:SH3GL3
    Synonyms:CNSA3, SH3D2C
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:10832. SH3GL3.

    Subcellular locationi

    Cytoplasm By similarity. Early endosome membrane By similarity; Peripheral membrane protein By similarity
    Note: Associated with postsynaptic endosomes in hippocampal neurons. Associated with presynaptic endosomes in olfactory neurons By similarity.By similarity

    GO - Cellular componenti

    1. early endosome membrane Source: UniProtKB-SubCell
    2. extracellular vesicular exosome Source: UniProt

    Keywords - Cellular componenti

    Cytoplasm, Endosome, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA35738.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 347347Endophilin-A3PRO_0000146750Add
    BLAST

    Proteomic databases

    MaxQBiQ99963.
    PaxDbiQ99963.
    PRIDEiQ99963.

    PTM databases

    PhosphoSiteiQ99963.

    Expressioni

    Tissue specificityi

    Brain and testis.

    Gene expression databases

    ArrayExpressiQ99963.
    BgeeiQ99963.
    CleanExiHS_SH3GL3.
    GenevestigatoriQ99963.

    Organism-specific databases

    HPAiHPA039381.

    Interactioni

    Subunit structurei

    Interacts with ARC By similarity. Interacts with DNM1, SGIP1 and SYNJ1. Interacts with the huntingtin exon 1 protein (HDEX1P) containing a glutamine repeat in the pathological range and promotes formation of insoluble polyglutamine-containing aggregates in vivo. Interacts with DYDC1. Interacts with FASLG. Interacts with ATX2. Interacts with BIN2.By similarity7 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    itself3EBI-473910,EBI-473910
    ATXN2Q9970011EBI-473910,EBI-697691
    HTTP428589EBI-473910,EBI-466029
    SH3GL1Q999614EBI-473910,EBI-697911
    SH3GL2Q999625EBI-473910,EBI-77938

    Protein-protein interaction databases

    BioGridi112354. 40 interactions.
    IntActiQ99963. 38 interactions.
    MINTiMINT-128532.
    STRINGi9606.ENSP00000391372.

    Structurei

    Secondary structure

    1
    347
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi31 – 5828
    Helixi62 – 698
    Helixi89 – 10416
    Helixi109 – 13830
    Helixi140 – 1489
    Helixi150 – 17223
    Turni173 – 1764
    Helixi180 – 20627
    Helixi209 – 24638
    Beta strandi289 – 2946
    Beta strandi311 – 32717
    Beta strandi330 – 3356
    Helixi336 – 3383
    Beta strandi339 – 3424

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2EW3NMR-A285-345[»]
    2Z0VX-ray2.49A/B24-256[»]
    ProteinModelPortaliQ99963.
    SMRiQ99963. Positions 30-252, 285-344.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ99963.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini18 – 249232BARPROSITE-ProRule annotationAdd
    BLAST
    Domaini285 – 34460SH3PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 2121Membrane-binding amphipathic helixBy similarityAdd
    BLAST
    Regioni60 – 8728Required for dimerization upon membrane associationBy similarityAdd
    BLAST
    Regioni218 – 25437Interaction with ARCBy similarityAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili181 – 20121Sequence AnalysisAdd
    BLAST

    Domaini

    An N-terminal amphipathic helix, the BAR domain and a second amphipathic helix inserted into helix 1 of the BAR domain (N-BAR domain) induce membrane curvature and bind curved membranes.By similarity

    Sequence similaritiesi

    Belongs to the endophilin family.Curated
    Contains 1 BAR domain.PROSITE-ProRule annotation
    Contains 1 SH3 domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil, SH3 domain

    Phylogenomic databases

    eggNOGiNOG307129.
    HOGENOMiHOG000231641.
    HOVERGENiHBG052866.
    InParanoidiQ99963.
    KOiK11247.
    OMAiENDTEHV.
    OrthoDBiEOG7G1V6H.
    PhylomeDBiQ99963.
    TreeFamiTF313281.

    Family and domain databases

    Gene3Di1.20.1270.60. 1 hit.
    InterProiIPR027267. AH/BAR-dom.
    IPR004148. BAR_dom.
    IPR028501. Endophilin-A.
    IPR001452. SH3_domain.
    [Graphical view]
    PANTHERiPTHR10661:SF120. PTHR10661:SF120. 1 hit.
    PfamiPF03114. BAR. 1 hit.
    PF14604. SH3_9. 1 hit.
    [Graphical view]
    PRINTSiPR00452. SH3DOMAIN.
    SMARTiSM00721. BAR. 1 hit.
    SM00326. SH3. 1 hit.
    [Graphical view]
    SUPFAMiSSF50044. SSF50044. 1 hit.
    PROSITEiPS51021. BAR. 1 hit.
    PS50002. SH3. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q99963-1) [UniParc]FASTAAdd to Basket

    Also known as: EEN-B2-L1

    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

    MSVAGLKKQF HKASQLFSEK ISGAEGTKLD DEFLDMERKI DVTNKVVAEI    50
    LSKTTEYLQP NPAYRAKLGM LNTVSKIRGQ VKTTGYPQTE GLLGDCMLKY 100
    GKELGEDSTF GNALIEVGES MKLMAEVKDS LDINVKQTFI DPLQLLQDKD 150
    LKEIGHHLKK LEGRRLDYDY KKKRVGKIPD EEVRQAVEKF EESKELAERS 200
    MFNFLENDVE QVSQLAVFIE AALDYHRQST EILQELQSKL QMRISAASSV 250
    PRREYKPRPV KRSSSELNGV STTSVVKTTG SNIPMDQPCC RGLYDFEPEN 300
    QGELGFKEGD IITLTNQIDE NWYEGMIHGE SGFFPINYVE VIVPLPQ 347
    Length:347
    Mass (Da):39,285
    Last modified:May 1, 1997 - v1
    Checksum:iD68DA7B28574C4E6
    GO
    Isoform 2 (identifier: Q99963-2) [UniParc]FASTAAdd to Basket

    Also known as: EEN-B2-L2

    The sequence of this isoform differs from the canonical sequence as follows:
         1-69: Missing.

    Show »
    Length:278
    Mass (Da):31,587
    Checksum:iE0C2DDBD871FBB09
    GO
    Isoform 3 (identifier: Q99963-3) [UniParc]FASTAAdd to Basket

    Also known as: EEN-B2-L3

    The sequence of this isoform differs from the canonical sequence as follows:
         1-14: MSVAGLKKQFHKAS → MDGIFAGIICNQANRCLTWTSQ

    Show »
    Length:355
    Mass (Da):40,196
    Checksum:iAB91D787F6C13AFC
    GO
    Isoform 4 (identifier: Q99963-4) [UniParc]FASTAAdd to Basket

    Also known as: EEN-B2-L4

    The sequence of this isoform differs from the canonical sequence as follows:
         311-347: IITLTNQIDENWYEGMIHGESGFFPINYVEVIVPLPQ → GTFRKIKRETKIKMCRKKIVNIYKLKDQQH

    Show »
    Length:340
    Mass (Da):38,739
    Checksum:iBC523D052F3E0114
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 6969Missing in isoform 2. 1 PublicationVSP_001441Add
    BLAST
    Alternative sequencei1 – 1414MSVAG…FHKAS → MDGIFAGIICNQANRCLTWT SQ in isoform 3. 1 PublicationVSP_001440Add
    BLAST
    Alternative sequencei311 – 34737IITLT…VPLPQ → GTFRKIKRETKIKMCRKKIV NIYKLKDQQH in isoform 4. 1 PublicationVSP_001442Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X99664 mRNA. Translation: CAA67978.1.
    AF036269 mRNA. Translation: AAC04765.1.
    AF036270 mRNA. Translation: AAC04766.1.
    AF036271 mRNA. Translation: AAC04767.1.
    AF036272 mRNA. Translation: AAC04768.1.
    CCDSiCCDS10325.2. [Q99963-1]
    RefSeqiNP_003018.3. NM_003027.3. [Q99963-1]
    XP_006720701.1. XM_006720638.1. [Q99963-3]
    UniGeneiHs.270055.
    Hs.666365.

    Genome annotation databases

    EnsembliENST00000324537; ENSP00000320092; ENSG00000140600. [Q99963-3]
    ENST00000427482; ENSP00000391372; ENSG00000140600. [Q99963-1]
    GeneIDi6457.
    KEGGihsa:6457.
    UCSCiuc002bju.3. human. [Q99963-3]
    uc002bjw.3. human. [Q99963-1]

    Polymorphism databases

    DMDMi12643798.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X99664 mRNA. Translation: CAA67978.1 .
    AF036269 mRNA. Translation: AAC04765.1 .
    AF036270 mRNA. Translation: AAC04766.1 .
    AF036271 mRNA. Translation: AAC04767.1 .
    AF036272 mRNA. Translation: AAC04768.1 .
    CCDSi CCDS10325.2. [Q99963-1 ]
    RefSeqi NP_003018.3. NM_003027.3. [Q99963-1 ]
    XP_006720701.1. XM_006720638.1. [Q99963-3 ]
    UniGenei Hs.270055.
    Hs.666365.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2EW3 NMR - A 285-345 [» ]
    2Z0V X-ray 2.49 A/B 24-256 [» ]
    ProteinModelPortali Q99963.
    SMRi Q99963. Positions 30-252, 285-344.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112354. 40 interactions.
    IntActi Q99963. 38 interactions.
    MINTi MINT-128532.
    STRINGi 9606.ENSP00000391372.

    PTM databases

    PhosphoSitei Q99963.

    Polymorphism databases

    DMDMi 12643798.

    Proteomic databases

    MaxQBi Q99963.
    PaxDbi Q99963.
    PRIDEi Q99963.

    Protocols and materials databases

    DNASUi 6457.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000324537 ; ENSP00000320092 ; ENSG00000140600 . [Q99963-3 ]
    ENST00000427482 ; ENSP00000391372 ; ENSG00000140600 . [Q99963-1 ]
    GeneIDi 6457.
    KEGGi hsa:6457.
    UCSCi uc002bju.3. human. [Q99963-3 ]
    uc002bjw.3. human. [Q99963-1 ]

    Organism-specific databases

    CTDi 6457.
    GeneCardsi GC15P084115.
    H-InvDB HIX0026775.
    HGNCi HGNC:10832. SH3GL3.
    HPAi HPA039381.
    MIMi 603362. gene.
    neXtProti NX_Q99963.
    PharmGKBi PA35738.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG307129.
    HOGENOMi HOG000231641.
    HOVERGENi HBG052866.
    InParanoidi Q99963.
    KOi K11247.
    OMAi ENDTEHV.
    OrthoDBi EOG7G1V6H.
    PhylomeDBi Q99963.
    TreeFami TF313281.

    Miscellaneous databases

    EvolutionaryTracei Q99963.
    GeneWikii SH3GL3.
    GenomeRNAii 6457.
    NextBioi 25097.
    PROi Q99963.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q99963.
    Bgeei Q99963.
    CleanExi HS_SH3GL3.
    Genevestigatori Q99963.

    Family and domain databases

    Gene3Di 1.20.1270.60. 1 hit.
    InterProi IPR027267. AH/BAR-dom.
    IPR004148. BAR_dom.
    IPR028501. Endophilin-A.
    IPR001452. SH3_domain.
    [Graphical view ]
    PANTHERi PTHR10661:SF120. PTHR10661:SF120. 1 hit.
    Pfami PF03114. BAR. 1 hit.
    PF14604. SH3_9. 1 hit.
    [Graphical view ]
    PRINTSi PR00452. SH3DOMAIN.
    SMARTi SM00721. BAR. 1 hit.
    SM00326. SH3. 1 hit.
    [Graphical view ]
    SUPFAMi SSF50044. SSF50044. 1 hit.
    PROSITEi PS51021. BAR. 1 hit.
    PS50002. SH3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel SH3-containing human gene family preferentially expressed in the central nervous system."
      Giachino C., Lantelme E., Lanzetti L., Saccone S., Della Valle G., Migone N.
      Genomics 41:427-434(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Fetal brain.
    2. "A family of EEN-like genes coding for SH3-domain containing proteins are preferentially expressed in human brain."
      So C.W., So C.K.C., Sham M.H., Chan L.C.
      Submitted (MAR-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4).
      Tissue: Brain.
    3. "SH3GL3 associates with the Huntingtin exon 1 protein and promotes the formation of polygln-containing protein aggregates."
      Sittler A., Walter S., Wedemeyer N., Hasenbank R., Scherzinger E., Eickhoff H., Bates G.P., Lehrach H., Wanker E.E.
      Mol. Cell 2:427-436(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH HUNTINGTIN EXON 1 PROTEIN.
    4. "The SH3 domains of endophilin and amphiphysin bind to the proline-rich region of synaptojanin 1 at distinct sites that display an unconventional binding specificity."
      Cestra G., Castagnoli L., Dente L., Minenkova O., Petrelli A., Migone N., Hoffmueller U., Schneider-Mergener J., Cesareni G.
      J. Biol. Chem. 274:32001-32007(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SYNJ1.
    5. "Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1, a novel neuronal protein that regulates energy balance."
      Trevaskis J., Walder K., Foletta V., Kerr-Bayles L., McMillan J., Cooper A., Lee S., Bolton K., Prior M., Fahey R., Whitecross K., Morton G.J., Schwartz M.W., Collier G.R.
      Endocrinology 146:3757-3764(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SGIP1.
    6. "Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking."
      Nonis D., Schmidt M.H., van de Loo S., Eich F., Dikic I., Nowock J., Auburger G.
      Cell. Signal. 20:1725-1739(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH ATX2.
    7. "Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening."
      Voss M., Lettau M., Janssen O.
      BMC Immunol. 10:53-53(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH FASLG.
    8. "Interaction of SH3P13 and DYDC1 protein: a germ cell component that regulates acrosome biogenesis during spermiogenesis."
      Li S., Qiao Y., Di Q., Le X., Zhang L., Zhang X., Zhang C., Cheng J., Zong S., Koide S.S., Miao S., Wang L.
      Eur. J. Cell Biol. 88:509-520(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH DYDC1.
    9. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. "Bin2 is a membrane sculpting N-BAR protein that influences leucocyte podosomes, motility and phagocytosis."
      Sanchez-Barrena M.J., Vallis Y., Clatworthy M.R., Doherty G.J., Veprintsev D.B., Evans P.R., McMahon H.T.
      PLoS ONE 7:E52401-E52401(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH BIN2.
    11. "Crystal structure of BAR domain of endophilin-III."
      RIKEN structural genomics initiative (RSGI)
      Submitted (FEB-2009) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (2.49 ANGSTROMS) OF 22-256.

    Entry informationi

    Entry nameiSH3G3_HUMAN
    AccessioniPrimary (citable) accession number: Q99963
    Secondary accession number(s): O43553, O43554
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: May 1, 1997
    Last modified: October 1, 2014
    This is version 138 of the entry and version 1 of the sequence. [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 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3