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Q99963 (SH3G3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 136. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | 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:
Endophilin-A3
Alternative name(s):
EEN-B2
Endophilin-3
SH3 domain protein 2C
SH3 domain-containing GRB2-like protein 3
Gene names
Name:SH3GL3
Synonyms:CNSA3, SH3D2C
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length347 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

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. Ref.3 Ref.4 Ref.5 Ref.6 Ref.7 Ref.8 Ref.10

Subcellular location

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

Tissue specificity

Brain and testis.

Domain

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 similarities

Belongs to the endophilin family.

Contains 1 BAR domain.

Contains 1 SH3 domain.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q99963-1)

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.
Isoform 2 (identifier: Q99963-2)

Also known as: EEN-B2-L2;

The sequence of this isoform differs from the canonical sequence as follows:
     1-69: Missing.
Isoform 3 (identifier: Q99963-3)

Also known as: EEN-B2-L3;

The sequence of this isoform differs from the canonical sequence as follows:
     1-14: MSVAGLKKQFHKAS → MDGIFAGIICNQANRCLTWTSQ
Isoform 4 (identifier: Q99963-4)

Also known as: EEN-B2-L4;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 347347Endophilin-A3
PRO_0000146750

Regions

Domain18 – 249232BAR
Domain285 – 34460SH3
Region1 – 2121Membrane-binding amphipathic helix By similarity
Region60 – 8728Required for dimerization upon membrane association By similarity
Region218 – 25437Interaction with ARC By similarity
Coiled coil181 – 20121 Potential

Natural variations

Alternative sequence1 – 6969Missing in isoform 2.
VSP_001441
Alternative sequence1 – 1414MSVAG…FHKAS → MDGIFAGIICNQANRCLTWT SQ in isoform 3.
VSP_001440
Alternative sequence311 – 34737IITLT…VPLPQ → GTFRKIKRETKIKMCRKKIV NIYKLKDQQH in isoform 4.
VSP_001442

Secondary structure

.......................... 347
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (EEN-B2-L1) [UniParc].

Last modified May 1, 1997. Version 1.
Checksum: D68DA7B28574C4E6

FASTA34739,285
        10         20         30         40         50         60 
MSVAGLKKQF HKASQLFSEK ISGAEGTKLD DEFLDMERKI DVTNKVVAEI LSKTTEYLQP 

        70         80         90        100        110        120 
NPAYRAKLGM LNTVSKIRGQ VKTTGYPQTE GLLGDCMLKY GKELGEDSTF GNALIEVGES 

       130        140        150        160        170        180 
MKLMAEVKDS LDINVKQTFI DPLQLLQDKD LKEIGHHLKK LEGRRLDYDY KKKRVGKIPD 

       190        200        210        220        230        240 
EEVRQAVEKF EESKELAERS MFNFLENDVE QVSQLAVFIE AALDYHRQST EILQELQSKL 

       250        260        270        280        290        300 
QMRISAASSV PRREYKPRPV KRSSSELNGV STTSVVKTTG SNIPMDQPCC RGLYDFEPEN 

       310        320        330        340 
QGELGFKEGD IITLTNQIDE NWYEGMIHGE SGFFPINYVE VIVPLPQ 

« Hide

Isoform 2 (EEN-B2-L2) [UniParc].

Checksum: E0C2DDBD871FBB09
Show »

FASTA27831,587
Isoform 3 (EEN-B2-L3) [UniParc].

Checksum: AB91D787F6C13AFC
Show »

FASTA35540,196
Isoform 4 (EEN-B2-L4) [UniParc].

Checksum: BC523D052F3E0114
Show »

FASTA34038,739

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS10325.2. [Q99963-1]
RefSeqNP_003018.3. NM_003027.3. [Q99963-1]
XP_006720701.1. XM_006720638.1. [Q99963-3]
UniGeneHs.270055.
Hs.666365.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2EW3NMR-A285-345[»]
2Z0VX-ray2.49A/B24-256[»]
ProteinModelPortalQ99963.
SMRQ99963. Positions 30-252, 285-344.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112354. 40 interactions.
IntActQ99963. 38 interactions.
MINTMINT-128532.
STRING9606.ENSP00000391372.

PTM databases

PhosphoSiteQ99963.

Polymorphism databases

DMDM12643798.

Proteomic databases

MaxQBQ99963.
PaxDbQ99963.
PRIDEQ99963.

Protocols and materials databases

DNASU6457.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000324537; ENSP00000320092; ENSG00000140600. [Q99963-3]
ENST00000427482; ENSP00000391372; ENSG00000140600. [Q99963-1]
ENST00000434347; ENSP00000397871; ENSG00000140600. [Q99963-3]
GeneID6457.
KEGGhsa:6457.
UCSCuc002bju.3. human. [Q99963-3]
uc002bjw.3. human. [Q99963-1]

Organism-specific databases

CTD6457.
GeneCardsGC15P084115.
H-InvDBHIX0026775.
HGNCHGNC:10832. SH3GL3.
HPAHPA039381.
MIM603362. gene.
neXtProtNX_Q99963.
PharmGKBPA35738.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG307129.
HOGENOMHOG000231641.
HOVERGENHBG052866.
InParanoidQ99963.
KOK11247.
OMAENDTEHV.
OrthoDBEOG7G1V6H.
PhylomeDBQ99963.
TreeFamTF313281.

Gene expression databases

ArrayExpressQ99963.
BgeeQ99963.
CleanExHS_SH3GL3.
GenevestigatorQ99963.

Family and domain databases

Gene3D1.20.1270.60. 1 hit.
InterProIPR027267. AH/BAR-dom.
IPR004148. BAR_dom.
IPR028501. Endophilin-A.
IPR001452. SH3_domain.
[Graphical view]
PANTHERPTHR10661:SF120. PTHR10661:SF120. 1 hit.
PfamPF03114. BAR. 1 hit.
PF14604. SH3_9. 1 hit.
[Graphical view]
PRINTSPR00452. 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

EvolutionaryTraceQ99963.
GeneWikiSH3GL3.
GenomeRNAi6457.
NextBio25097.
PROQ99963.
SOURCESearch...

Entry information

Entry nameSH3G3_HUMAN
AccessionPrimary (citable) accession number: Q99963
Secondary accession number(s): O43553, O43554
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 1997
Last modified: July 9, 2014
This is version 136 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 chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM