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Protein

Endophilin-A2

Gene

SH3GL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

GO - Biological processi

Keywordsi

Biological processEndocytosis
LigandLipid-binding

Enzyme and pathway databases

ReactomeiR-HSA-182971 EGFR downregulation
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
SIGNORiQ99961

Names & Taxonomyi

Protein namesi
Recommended name:
Endophilin-A2
Alternative name(s):
EEN fusion partner of MLL
Endophilin-2
Extra eleven-nineteen leukemia fusion gene protein
Short name:
EEN
SH3 domain protein 2B
SH3 domain-containing GRB2-like protein 1
Gene namesi
Name:SH3GL1
Synonyms:CNSA1, SH3D2B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000141985.9
HGNCiHGNC:10830 SH3GL1
MIMi601768 gene
neXtProtiNX_Q99961

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

Cell junction, Cell projection, Cytoplasm, Endosome, Membrane

Pathology & Biotechi

Involvement in diseasei

In some cases of acute leukemia, a translocation results in the formation of a KMT2A/MLL1-EEN fusion gene.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei15 – 16Breakpoint for translocation to form KMT2A/MLL1-EEN oncogene2

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi6455
MalaCardsiSH3GL1
OpenTargetsiENSG00000141985
PharmGKBiPA35736

Polymorphism and mutation databases

BioMutaiSH3GL1
DMDMi12643797

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001467441 – 368Endophilin-A2Add BLAST368

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei288PhosphoserineCombined sources1
Modified residuei292PhosphoserineCombined sources1
Modified residuei298PhosphothreonineCombined sources1
Modified residuei315PhosphotyrosineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ99961
MaxQBiQ99961
PaxDbiQ99961
PeptideAtlasiQ99961
PRIDEiQ99961
ProteomicsDBi78545

2D gel databases

OGPiQ99961

PTM databases

iPTMnetiQ99961
PhosphoSitePlusiQ99961

Expressioni

Tissue specificityi

Ubiquitous. Higher expression in pancreas, placenta, prostate, testis and uterus.

Gene expression databases

BgeeiENSG00000141985 Expressed in 223 organ(s), highest expression level in lower esophagus mucosa
CleanExiHS_SH3GL1
ExpressionAtlasiQ99961 baseline and differential
GenevisibleiQ99961 HS

Organism-specific databases

HPAiHPA021485

Interactioni

Subunit structurei

Interacts with ARC (By similarity). Interacts with SYNJ1 and DNM1. Interacts with PDCD6IP. Interacts with BIN2.By similarity3 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi112352, 74 interactors
DIPiDIP-29452N
IntActiQ99961, 52 interactors
MINTiQ99961
STRINGi9606.ENSP00000269886

Structurei

3D structure databases

ProteinModelPortaliQ99961
SMRiQ99961
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini18 – 249BARPROSITE-ProRule annotationAdd BLAST232
Domaini306 – 365SH3PROSITE-ProRule annotationAdd BLAST60

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 21Membrane-binding amphipathic helixBy similarityAdd BLAST21
Regioni60 – 87Required for dimerization upon membrane associationBy similarityAdd BLAST28
Regioni218 – 254Interaction with ARCBy similarityAdd BLAST37

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili145 – 250Sequence analysisAdd BLAST106

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

Keywords - Domaini

Coiled coil, SH3 domain

Phylogenomic databases

eggNOGiKOG1118 Eukaryota
ENOG410XNYB LUCA
GeneTreeiENSGT00550000074464
HOGENOMiHOG000231641
HOVERGENiHBG052866
InParanoidiQ99961
KOiK11247
OMAiPCATAPK
OrthoDBiEOG091G16FW
PhylomeDBiQ99961
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
PF00018 SH3_1, 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

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q99961-1) [UniParc]FASTAAdd to basket

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 YKASQLVSEK VGGAEGTKLD DDFKEMEKKV DVTSKAVTEV
60 70 80 90 100
LARTIEYLQP NPASRAKLTM LNTVSKIRGQ VKNPGYPQSE GLLGECMIRH
110 120 130 140 150
GKELGGESNF GDALLDAGES MKRLAEVKDS LDIEVKQNFI DPLQNLCEKD
160 170 180 190 200
LKEIQHHLKK LEGRRLDFDY KKKRQGKIPD EELRQALEKF EESKEVAETS
210 220 230 240 250
MHNLLETDIE QVSQLSALVD AQLDYHRQAV QILDELAEKL KRRMREASSR
260 270 280 290 300
PKREYKPKPR EPFDLGEPEQ SNGGFPCTTA PKIAASSSFR SSDKPIRTPS
310 320 330 340 350
RSMPPLDQPS CKALYDFEPE NDGELGFHEG DVITLTNQID ENWYEGMLDG
360
QSGFFPLSYV EVLVPLPQ
Length:368
Mass (Da):41,490
Last modified:May 1, 1997 - v1
Checksum:i6E5BE978BC955077
GO
Isoform 2 (identifier: Q99961-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     63-110: Missing.

Note: No experimental confirmation available.
Show »
Length:320
Mass (Da):36,304
Checksum:i1D0826E00AC0EA31
GO
Isoform 3 (identifier: Q99961-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     80-143: Missing.

Note: No experimental confirmation available.
Show »
Length:304
Mass (Da):34,519
Checksum:iD761B54F4160CC82
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0R0I3M0R0I3_HUMAN
Endophilin-A2
SH3GL1
139Annotation score:
M0QYE0M0QYE0_HUMAN
Endophilin-A2
SH3GL1
128Annotation score:
M0R2K6M0R2K6_HUMAN
Endophilin-A2
SH3GL1
26Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti316D → G in BAG61213 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04583763 – 110Missing in isoform 2. 1 PublicationAdd BLAST48
Alternative sequenceiVSP_04703780 – 143Missing in isoform 3. 1 PublicationAdd BLAST64

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X99656 mRNA Translation: CAA67970.1
U65999 mRNA Translation: AAB86800.1
AF190465 Genomic DNA Translation: AAF04290.1
AK299166 mRNA Translation: BAG61213.1
AK097616 mRNA No translation available.
AC007292 Genomic DNA No translation available.
AC011498 Genomic DNA No translation available.
BC001270 mRNA Translation: AAH01270.1
CCDSiCCDS32874.1 [Q99961-1]
CCDS56076.1 [Q99961-2]
CCDS59335.1 [Q99961-3]
RefSeqiNP_001186872.1, NM_001199943.1 [Q99961-2]
NP_001186873.1, NM_001199944.1 [Q99961-3]
NP_003016.1, NM_003025.3 [Q99961-1]
UniGeneiHs.490415
Hs.97616

Genome annotation databases

EnsembliENST00000269886; ENSP00000269886; ENSG00000141985 [Q99961-1]
ENST00000417295; ENSP00000404568; ENSG00000141985 [Q99961-2]
ENST00000598564; ENSP00000470792; ENSG00000141985 [Q99961-3]
GeneIDi6455
KEGGihsa:6455
UCSCiuc002maj.4 human [Q99961-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

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
X99656 mRNA Translation: CAA67970.1
U65999 mRNA Translation: AAB86800.1
AF190465 Genomic DNA Translation: AAF04290.1
AK299166 mRNA Translation: BAG61213.1
AK097616 mRNA No translation available.
AC007292 Genomic DNA No translation available.
AC011498 Genomic DNA No translation available.
BC001270 mRNA Translation: AAH01270.1
CCDSiCCDS32874.1 [Q99961-1]
CCDS56076.1 [Q99961-2]
CCDS59335.1 [Q99961-3]
RefSeqiNP_001186872.1, NM_001199943.1 [Q99961-2]
NP_001186873.1, NM_001199944.1 [Q99961-3]
NP_003016.1, NM_003025.3 [Q99961-1]
UniGeneiHs.490415
Hs.97616

3D structure databases

ProteinModelPortaliQ99961
SMRiQ99961
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112352, 74 interactors
DIPiDIP-29452N
IntActiQ99961, 52 interactors
MINTiQ99961
STRINGi9606.ENSP00000269886

PTM databases

iPTMnetiQ99961
PhosphoSitePlusiQ99961

Polymorphism and mutation databases

BioMutaiSH3GL1
DMDMi12643797

2D gel databases

OGPiQ99961

Proteomic databases

EPDiQ99961
MaxQBiQ99961
PaxDbiQ99961
PeptideAtlasiQ99961
PRIDEiQ99961
ProteomicsDBi78545

Protocols and materials databases

DNASUi6455
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000269886; ENSP00000269886; ENSG00000141985 [Q99961-1]
ENST00000417295; ENSP00000404568; ENSG00000141985 [Q99961-2]
ENST00000598564; ENSP00000470792; ENSG00000141985 [Q99961-3]
GeneIDi6455
KEGGihsa:6455
UCSCiuc002maj.4 human [Q99961-1]

Organism-specific databases

CTDi6455
DisGeNETi6455
EuPathDBiHostDB:ENSG00000141985.9
GeneCardsiSH3GL1
HGNCiHGNC:10830 SH3GL1
HPAiHPA021485
MalaCardsiSH3GL1
MIMi601768 gene
neXtProtiNX_Q99961
OpenTargetsiENSG00000141985
PharmGKBiPA35736
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1118 Eukaryota
ENOG410XNYB LUCA
GeneTreeiENSGT00550000074464
HOGENOMiHOG000231641
HOVERGENiHBG052866
InParanoidiQ99961
KOiK11247
OMAiPCATAPK
OrthoDBiEOG091G16FW
PhylomeDBiQ99961
TreeFamiTF313281

Enzyme and pathway databases

ReactomeiR-HSA-182971 EGFR downregulation
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
SIGNORiQ99961

Miscellaneous databases

ChiTaRSiSH3GL1 human
GeneWikiiSH3GL1
GenomeRNAii6455
PROiPR:Q99961
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000141985 Expressed in 223 organ(s), highest expression level in lower esophagus mucosa
CleanExiHS_SH3GL1
ExpressionAtlasiQ99961 baseline and differential
GenevisibleiQ99961 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
PF00018 SH3_1, 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 nameiSH3G1_HUMAN
AccessioniPrimary (citable) accession number: Q99961
Secondary accession number(s): B4DRA1
, E7EVZ4, M0QZV5, Q99668
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 1997
Last modified: November 7, 2018
This is version 190 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

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. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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