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Protein

Endophilin-A1

Gene

SH3GL2

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

Functioni

Implicated in synaptic vesicle endocytosis. May recruit other proteins to membranes with high curvature. Required for BDNF-dependent dendrite outgrowth. Cooperates with SH3GL2 to mediate BDNF-NTRK2 early endocytic trafficking and signaling from early endosomes.By similarity

Miscellaneous

HeLa cells expressing the N-BAR domain of SH3GL2 show tubulation of the plasma membrane. The N-BAR domain binds liposomes and induces formation of tubules from liposomes. The N-terminal amphipathic helix is required for liposome binding. The second amphipathic helix enhances liposome tubulation.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processEndocytosis
LigandLipid-binding

Enzyme and pathway databases

ReactomeiR-HSA-177504 Retrograde neurotrophin signalling
R-HSA-182971 EGFR downregulation
R-HSA-2132295 MHC class II antigen presentation
R-HSA-432720 Lysosome Vesicle Biogenesis
R-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-437239 Recycling pathway of L1
R-HSA-6807004 Negative regulation of MET activity
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-8875360 InlB-mediated entry of Listeria monocytogenes into host cell
SignaLinkiQ99962
SIGNORiQ99962

Names & Taxonomyi

Protein namesi
Recommended name:
Endophilin-A1
Alternative name(s):
EEN-B1
Endophilin-1
SH3 domain protein 2A
SH3 domain-containing GRB2-like protein 2
Gene namesi
Name:SH3GL2
Synonyms:CNSA2, SH3D2A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000107295.9
HGNCiHGNC:10831 SH3GL2
MIMi604465 gene
neXtProtiNX_Q99962

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

Cytoplasm, Endosome, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi63A → S: Reduced tubulation of liposomes, 3-fold increase in tubule diameter, no effect on liposome binding; when associated with S-66 or with S-66 and Q-70. 1 Publication1
Mutagenesisi66A → D: Loss of tubulation of liposomes, no effect on liposome binding. 1 Publication1
Mutagenesisi66A → S: Reduced tubulation of liposomes, 3-fold increase in tubule diameter, no effect on liposome binding; when associated with S-63 or with S-63 and Q-70. 1 Publication1
Mutagenesisi66A → W: Vesiculation of liposomes, no effect on liposome binding, indol ring located in hydrophobic core of the membrane. 1 Publication1
Mutagenesisi70M → Q: Reduced tubulation of liposomes, 3-fold increase in tubule diameter, no effect on liposome binding; when associated with S-63 and S-66. 1 Publication1
Mutagenesisi202F → W: No effect. Indol ring not associated with the membrane. 1 Publication1

Organism-specific databases

DisGeNETi6456
OpenTargetsiENSG00000107295
PharmGKBiPA35737

Polymorphism and mutation databases

BioMutaiSH3GL2
DMDMi10720276

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001467471 – 352Endophilin-A1Add BLAST352

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei262PhosphoserineBy similarity1
Modified residuei299PhosphotyrosineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ99962
MaxQBiQ99962
PaxDbiQ99962
PeptideAtlasiQ99962
PRIDEiQ99962
ProteomicsDBi78546

PTM databases

iPTMnetiQ99962
PhosphoSitePlusiQ99962

Expressioni

Tissue specificityi

Brain, mostly in frontal cortex. Expressed at high level in fetal cerebellum.

Gene expression databases

BgeeiENSG00000107295 Expressed in 135 organ(s), highest expression level in primary visual cortex
CleanExiHS_SH3GL2
GenevisibleiQ99962 HS

Organism-specific databases

HPAiCAB010056
HPA026685
HPA063573

Interactioni

Subunit structurei

Monomer; in cytoplasm. Homodimer; when associated with membranes (By similarity). Interacts with OPHN1 (By similarity). Interacts with SYNJ1 and DNM1. Interacts with MAP4K3; the interaction appears to regulate MAP4K3-mediated JNK activation. Interacts with PDCD6IP. Interacts with ATX2. Interacts with ADAM9 and ADAM15 cytoplasmic tails. Interacts with BIN2. Interacts with TMEM108 (By similarity). Interacts with ADGRB2 (PubMed:28891236).By similarity6 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi112353, 61 interactors
CORUMiQ99962
DIPiDIP-30996N
IntActiQ99962, 59 interactors
MINTiQ99962
STRINGi9606.ENSP00000369981

Structurei

Secondary structure

1352
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ99962
SMRiQ99962
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ99962

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini18 – 249BARPROSITE-ProRule annotationAdd BLAST232
Domaini290 – 349SH3PROSITE-ProRule annotationAdd BLAST60

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 125Binds and tubulates liposomesBy similarityAdd BLAST125
Regioni1 – 21Membrane-binding amphipathic helix1 PublicationAdd BLAST21
Regioni60 – 87Required for dimerization upon membrane associationBy similarityAdd BLAST28

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili181 – 248Sequence analysisAdd BLAST68

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. The BAR domain dimer forms a rigid crescent shaped bundle of helices with the pair of second amphipathic helices protruding towards the membrane-binding surface.1 Publication

Sequence similaritiesi

Belongs to the endophilin family.Curated

Keywords - Domaini

Coiled coil, SH3 domain

Phylogenomic databases

eggNOGiKOG1118 Eukaryota
ENOG410XNYB LUCA
GeneTreeiENSGT00550000074464
HOGENOMiHOG000231641
HOVERGENiHBG052866
InParanoidiQ99962
KOiK11247
OMAiDNTQHNG
OrthoDBiEOG091G16FW
PhylomeDBiQ99962
TreeFamiTF313281

Family and domain databases

CDDicd11803 SH3_Endophilin_A, 1 hit
Gene3Di1.20.1270.60, 1 hit
InterProiView protein in InterPro
IPR027267 AH/BAR_dom_sf
IPR004148 BAR_dom
IPR028501 Endophilin-A
IPR035824 Endophilin_A_SH3
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PANTHERiPTHR43965 PTHR43965, 1 hit
PfamiView protein in Pfam
PF03114 BAR, 1 hit
PF07653 SH3_2, 1 hit
PRINTSiPR00452 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

Sequencei

Sequence statusi: Complete.

Q99962-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSVAGLKKQF HKATQKVSEK VGGAEGTKLD DDFKEMERKV DVTSRAVMEI
60 70 80 90 100
MTKTIEYLQP NPASRAKLSM INTMSKIRGQ EKGPGYPQAE ALLAEAMLKF
110 120 130 140 150
GRELGDDCNF GPALGEVGEA MRELSEVKDS LDIEVKQNFI DPLQNLHDKD
160 170 180 190 200
LREIQHHLKK LEGRRLDFDY KKKRQGKIPD EELRQALEKF DESKEIAESS
210 220 230 240 250
MFNLLEMDIE QVSQLSALVQ AQLEYHKQAV QILQQVTVRL EERIRQASSQ
260 270 280 290 300
PRREYQPKPR MSLEFPTGDS TQPNGGLSHT GTPKPSGVQM DQPCCRALYD
310 320 330 340 350
FEPENEGELG FKEGDIITLT NQIDENWYEG MLHGHSGFFP INYVEILVAL

PH
Length:352
Mass (Da):39,962
Last modified:May 1, 1997 - v1
Checksum:iF3AE2353E1EB7CF3
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X99657 mRNA Translation: CAA67971.1
AF036268 mRNA Translation: AAC04764.1
CR542086 mRNA Translation: CAG46883.1
CR542102 mRNA Translation: CAG46899.1
BT019682 mRNA Translation: AAV38488.1
AK312400 mRNA Translation: BAG35315.1
AL139115 Genomic DNA No translation available.
AL133214 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58661.1
CCDSiCCDS6483.1
RefSeqiNP_003017.1, NM_003026.3
UniGeneiHs.743740
Hs.75149

Genome annotation databases

EnsembliENST00000380607; ENSP00000369981; ENSG00000107295
GeneIDi6456
KEGGihsa:6456
UCSCiuc003zna.4 human

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X99657 mRNA Translation: CAA67971.1
AF036268 mRNA Translation: AAC04764.1
CR542086 mRNA Translation: CAG46883.1
CR542102 mRNA Translation: CAG46899.1
BT019682 mRNA Translation: AAV38488.1
AK312400 mRNA Translation: BAG35315.1
AL139115 Genomic DNA No translation available.
AL133214 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58661.1
CCDSiCCDS6483.1
RefSeqiNP_003017.1, NM_003026.3
UniGeneiHs.743740
Hs.75149

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1X03X-ray3.10A1-247[»]
1X04X-ray2.90A1-58[»]
A89-247[»]
2D4CX-ray2.40A/B/C/D1-247[»]
2DBMNMR-A293-352[»]
ProteinModelPortaliQ99962
SMRiQ99962
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112353, 61 interactors
CORUMiQ99962
DIPiDIP-30996N
IntActiQ99962, 59 interactors
MINTiQ99962
STRINGi9606.ENSP00000369981

PTM databases

iPTMnetiQ99962
PhosphoSitePlusiQ99962

Polymorphism and mutation databases

BioMutaiSH3GL2
DMDMi10720276

Proteomic databases

EPDiQ99962
MaxQBiQ99962
PaxDbiQ99962
PeptideAtlasiQ99962
PRIDEiQ99962
ProteomicsDBi78546

Protocols and materials databases

DNASUi6456
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000380607; ENSP00000369981; ENSG00000107295
GeneIDi6456
KEGGihsa:6456
UCSCiuc003zna.4 human

Organism-specific databases

CTDi6456
DisGeNETi6456
EuPathDBiHostDB:ENSG00000107295.9
GeneCardsiSH3GL2
HGNCiHGNC:10831 SH3GL2
HPAiCAB010056
HPA026685
HPA063573
MIMi604465 gene
neXtProtiNX_Q99962
OpenTargetsiENSG00000107295
PharmGKBiPA35737
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1118 Eukaryota
ENOG410XNYB LUCA
GeneTreeiENSGT00550000074464
HOGENOMiHOG000231641
HOVERGENiHBG052866
InParanoidiQ99962
KOiK11247
OMAiDNTQHNG
OrthoDBiEOG091G16FW
PhylomeDBiQ99962
TreeFamiTF313281

Enzyme and pathway databases

ReactomeiR-HSA-177504 Retrograde neurotrophin signalling
R-HSA-182971 EGFR downregulation
R-HSA-2132295 MHC class II antigen presentation
R-HSA-432720 Lysosome Vesicle Biogenesis
R-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-437239 Recycling pathway of L1
R-HSA-6807004 Negative regulation of MET activity
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-8875360 InlB-mediated entry of Listeria monocytogenes into host cell
SignaLinkiQ99962
SIGNORiQ99962

Miscellaneous databases

ChiTaRSiSH3GL2 human
EvolutionaryTraceiQ99962
GeneWikiiSH3GL2
GenomeRNAii6456
PROiPR:Q99962
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000107295 Expressed in 135 organ(s), highest expression level in primary visual cortex
CleanExiHS_SH3GL2
GenevisibleiQ99962 HS

Family and domain databases

CDDicd11803 SH3_Endophilin_A, 1 hit
Gene3Di1.20.1270.60, 1 hit
InterProiView protein in InterPro
IPR027267 AH/BAR_dom_sf
IPR004148 BAR_dom
IPR028501 Endophilin-A
IPR035824 Endophilin_A_SH3
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PANTHERiPTHR43965 PTHR43965, 1 hit
PfamiView protein in Pfam
PF03114 BAR, 1 hit
PF07653 SH3_2, 1 hit
PRINTSiPR00452 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
ProtoNetiSearch...

Entry informationi

Entry nameiSH3G2_HUMAN
AccessioniPrimary (citable) accession number: Q99962
Secondary accession number(s): B2R618, Q9NQK5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 1997
Last modified: November 7, 2018
This is version 183 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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