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Protein

Endophilin-A3

Gene

SH3GL3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • lipid binding Source: UniProtKB-KW

GO - Biological processi

  • central nervous system development Source: ProtInc
  • endocytosis Source: UniProtKB-KW
  • signal transduction Source: ProtInc
Complete GO annotation...

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 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:10832. SH3GL3.

Subcellular locationi

GO - Cellular componenti

  • early endosome membrane Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endosome, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA35738.

Polymorphism and mutation databases

BioMutaiSH3GL3.
DMDMi12643798.

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

BgeeiQ99963.
CleanExiHS_SH3GL3.
ExpressionAtlasiQ99963. baseline and differential.
GenevisibleiQ99963. HS.

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
RAPH1Q70E734EBI-473910,EBI-3940924
SH3GL1Q999614EBI-473910,EBI-697911
SH3GL2Q999625EBI-473910,EBI-77938

Protein-protein interaction databases

BioGridi112354. 42 interactions.
IntActiQ99963. 44 interactions.
MINTiMINT-128532.
STRINGi9606.ENSP00000391372.

Structurei

Secondary structure

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

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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.
GeneTreeiENSGT00550000074464.
HOGENOMiHOG000231641.
HOVERGENiHBG052866.
InParanoidiQ99963.
KOiK11247.
OMAiKLDEDFM.
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. AlignAdd to basket

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

        10         20         30         40         50
MSVAGLKKQF HKASQLFSEK ISGAEGTKLD DEFLDMERKI DVTNKVVAEI
60 70 80 90 100
LSKTTEYLQP NPAYRAKLGM LNTVSKIRGQ VKTTGYPQTE GLLGDCMLKY
110 120 130 140 150
GKELGEDSTF GNALIEVGES MKLMAEVKDS LDINVKQTFI DPLQLLQDKD
160 170 180 190 200
LKEIGHHLKK LEGRRLDYDY KKKRVGKIPD EEVRQAVEKF EESKELAERS
210 220 230 240 250
MFNFLENDVE QVSQLAVFIE AALDYHRQST EILQELQSKL QMRISAASSV
260 270 280 290 300
PRREYKPRPV KRSSSELNGV STTSVVKTTG SNIPMDQPCC RGLYDFEPEN
310 320 330 340
QGELGFKEGD IITLTNQIDE NWYEGMIHGE SGFFPINYVE VIVPLPQ
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:
EMBLi
GenBanki
DDBJi
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]
CCDS73772.1. [Q99963-3]
RefSeqiNP_001288037.1. NM_001301108.1. [Q99963-2]
NP_001288038.1. NM_001301109.1. [Q99963-3]
NP_003018.3. NM_003027.4. [Q99963-1]
XP_011520190.1. XM_011521888.1. [Q99963-3]
XP_011520191.1. XM_011521889.1. [Q99963-3]
UniGeneiHs.270055.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
CCDS73772.1. [Q99963-3]
RefSeqiNP_001288037.1. NM_001301108.1. [Q99963-2]
NP_001288038.1. NM_001301109.1. [Q99963-3]
NP_003018.3. NM_003027.4. [Q99963-1]
XP_011520190.1. XM_011521888.1. [Q99963-3]
XP_011520191.1. XM_011521889.1. [Q99963-3]
UniGeneiHs.270055.

3D structure databases

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

Protein-protein interaction databases

BioGridi112354. 42 interactions.
IntActiQ99963. 44 interactions.
MINTiMINT-128532.
STRINGi9606.ENSP00000391372.

PTM databases

PhosphoSiteiQ99963.

Polymorphism and mutation databases

BioMutaiSH3GL3.
DMDMi12643798.

Proteomic databases

MaxQBiQ99963.
PaxDbiQ99963.
PRIDEiQ99963.

Protocols and materials databases

DNASUi6457.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi6457.
GeneCardsiGC15P084115.
H-InvDBHIX0026775.
HGNCiHGNC:10832. SH3GL3.
HPAiHPA039381.
MIMi603362. gene.
neXtProtiNX_Q99963.
PharmGKBiPA35738.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG307129.
GeneTreeiENSGT00550000074464.
HOGENOMiHOG000231641.
HOVERGENiHBG052866.
InParanoidiQ99963.
KOiK11247.
OMAiKLDEDFM.
OrthoDBiEOG7G1V6H.
PhylomeDBiQ99963.
TreeFamiTF313281.

Miscellaneous databases

ChiTaRSiSH3GL3. human.
EvolutionaryTraceiQ99963.
GeneWikiiSH3GL3.
GenomeRNAii6457.
NextBioi25097.
PROiQ99963.
SOURCEiSearch...

Gene expression databases

BgeeiQ99963.
CleanExiHS_SH3GL3.
ExpressionAtlasiQ99963. baseline and differential.
GenevisibleiQ99963. HS.

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]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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: July 22, 2015
This is version 147 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.