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Reviewed, UniProtKB/Swiss-Prot Q99961 (SH3G1_HUMAN)

Last modified February 9, 2010. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Endophilin-A2
Alternative name(s):
    Endophilin-2
    SH3 domain-containing GRB2-like protein 1
    SH3 domain protein 2B
    Extra eleven-nineteen leukemia fusion gene protein
      Short name=EEN
    EEN fusion partner of MLL
Gene names
Name: SH3GL1
Synonyms: CNSA1, SH3D2B
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length368 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level.

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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 SYNJ1 and DNM1. Interacts with PDCD6IP. Ref.6 Ref.8

Subcellular location

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

Tissue specificity

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

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.

Involvement in disease

In some cases of acute leukemia, a translocation results in the formation of a MLL-EEN fusion gene.

Sequence similarities

Belongs to the endophilin family.

Contains 1 BAR domain.

Contains 1 SH3 domain.

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Ontologies

Keywords
   Biological processEndocytosis
   Cellular componentCytoplasm
Endosome
Membrane
   Coding sequence diversityChromosomal rearrangement
   DiseaseProto-oncogene
   DomainCoiled coil
SH3 domain
   LigandLipid-binding
   PTMPhosphoprotein
   Technical termComplete proteome
Gene Ontology (GO)
   Biological processcentral nervous system development Ref.1

Traceable author statement. Source: ProtInc

endocytosis

Inferred from electronic annotation. Source: UniProtKB-KW

signal transduction Ref.1

Traceable author statement. Source: ProtInc

   Cellular componentendosome

Inferred from electronic annotation. Source: UniProtKB-KW

extrinsic to membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular functionlipid binding

Inferred from electronic annotation. Source: UniProtKB-KW

protein binding

Inferred from physical interaction. Source: IntAct

Complete GO annotation...

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Binary interactions

With

Entry

#Exp.

IntAct

Notes

DPPA4Q7L1901EBI-697911,EBI-710457
SH2D4AQ9H7882EBI-697911,EBI-747035

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 368368Endophilin-A2
PRO_0000146744

Regions

Domain18 – 249232BAR
Domain306 – 36560SH3
Region1 – 2121Membrane-binding amphipathic helix By similarity
Region60 – 8728Required for dimerization upon membrane association By similarity
Region218 – 25437Interaction with ARC By similarity
Coiled coil145 – 250106 Potential

Sites

Site15 – 162Breakpoint for translocation to form MLL-EEN oncogene

Amino acid modifications

Modified residue2871Phosphoserine Ref.12
Modified residue2881Phosphoserine Ref.12 Ref.7 Ref.9 Ref.10

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Sequences

Sequence LengthMass (Da)Tools
Q99961-1 [UniParc].

Last modified May 1, 1997. Version 1.
Checksum: 6E5BE978BC955077

FASTA36841,490
        10         20         30         40         50         60 
MSVAGLKKQF YKASQLVSEK VGGAEGTKLD DDFKEMEKKV DVTSKAVTEV LARTIEYLQP 

        70         80         90        100        110        120 
NPASRAKLTM LNTVSKIRGQ VKNPGYPQSE GLLGECMIRH GKELGGESNF GDALLDAGES 

       130        140        150        160        170        180 
MKRLAEVKDS LDIEVKQNFI DPLQNLCEKD LKEIQHHLKK LEGRRLDFDY KKKRQGKIPD 

       190        200        210        220        230        240 
EELRQALEKF EESKEVAETS MHNLLETDIE QVSQLSALVD AQLDYHRQAV QILDELAEKL 

       250        260        270        280        290        300 
KRRMREASSR PKREYKPKPR EPFDLGEPEQ SNGGFPCTTA PKIAASSSFR SSDKPIRTPS 

       310        320        330        340        350        360 
RSMPPLDQPS CKALYDFEPE NDGELGFHEG DVITLTNQID ENWYEGMLDG QSGFFPLSYV 


EVLVPLPQ

« Hide

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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: 9169142] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Fetal brain.
[2]"EEN encodes for a member of a new family of proteins containing an Src homology 3 domain and is the third gene located on chromosome 19p13 that fuses to MLL in human leukemia."
So C.W., Caldas C., Liu M.-M., Chen S.-J., Huang Q.-H., Gu L.-J., Sham M.H., Wiedemann L.M., Chan L.C.
Proc. Natl. Acad. Sci. U.S.A. 94:2563-2568(1997) [PubMed: 9122235] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Fetal brain.
[3]So C.W., Caldas C., Liu M.-M., Chen S.-J., Huang Q.-H., Gu L.-J., Sham M.H., Wiedemann L.M., Chan L.C.
Submitted (NOV-1997) to the EMBL/GenBank/DDBJ databases
Cited for: SEQUENCE REVISION.
[4]"Homo sapiens SH3-containing protein EEN gene."
Chen S., Xiong H., Dong H., Lin W., Zhang C., Fu G., Qi Z., Huang G.M.
Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Cervix.
[6]"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: 10542231] [Abstract]
Cited for: INTERACTION WITH SYNJ1.
[7]"Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry."
Molina H., Horn D.M., Tang N., Mathivanan S., Pandey A.
Proc. Natl. Acad. Sci. U.S.A. 104:2199-2204(2007) [PubMed: 17287340] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-288, MASS SPECTROMETRY.
[8]"Structural and biochemical studies of ALIX/AIP1 and its role in retrovirus budding."
Fisher R.D., Chung H.Y., Zhai Q., Robinson H., Sundquist W.I., Hill C.P.
Cell 128:841-852(2007) [PubMed: 17350572] [Abstract]
Cited for: INTERACTION WITH PDCD6IP.
[9]"Phosphoproteome of resting human platelets."
Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A.
J. Proteome Res. 7:526-534(2008) [PubMed: 18088087] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-288, MASS SPECTROMETRY.
Tissue: Platelet.
[10]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-288, MASS SPECTROMETRY.
[11]Colinge J., Superti-Furga G., Bennett K.L.
Submitted (OCT-2008) to UniProtKB
Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[12]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-287 AND SER-288, MASS SPECTROMETRY.
[13]"Large-scale proteomics analysis of the human kinome."
Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H.
Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed: 19369195] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-287, MASS SPECTROMETRY.

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Cross-references

Sequence databases

EMBL
GenBank
DDBJ		X99656 mRNA. Translation: CAA67970.1.
U65999 mRNA. Translation: AAB86800.1.
AF190465 Genomic DNA. Translation: AAF04290.1.
BC001270 mRNA. Translation: AAH01270.1.
RefSeqNP_003016.1.
UniGeneHs.97616

3D structure databases

SMRQ99961. Positions 9-247, 305-368.
ModBaseSearch...

Protein-protein interaction databases

IntActQ99961. 7 interactions.
STRINGQ99961.

PTM databases

PhosphoSiteQ99961.

2-D gel databases

OGPQ99961.

Proteomic databases

PeptideAtlasQ99961.
PRIDEQ99961.

Genome annotation databases

EnsemblENST00000269886; ENSP00000269886; ENSG00000141985; Homo sapiens. [Genome view]
GeneID6455.
KEGGhsa:6455.
UCSCuc002maj.1. human.

Organism-specific databases

CTD6455.
GeneCardsGC19M004311.
H-InvDBHIX0014664.
HIX0039677.
HGNCHGNC:10830. SH3GL1.
HPAHPA021485.
MIM601768. gene.
PharmGKBPA35736.
GenAtlasSearch...

Phylogenomic databases

HOGENOMHBG447412.
HOVERGENQ99961.
InParanoidQ99961.
OMASNFGDAL.
OrthoDBEOG91C9FX.
PhylomeDBQ99961.

Gene expression databases

ArrayExpressQ99961.
BgeeQ99961.
CleanExHS_SH3GL1.
GenevestigatorQ99961.
GermOnlineENSG00000141985. Homo sapiens.

Family and domain databases

InterProIPR004148. BAR.
IPR000108. Neu_cyt_fact_2.
IPR001452. SH3_domain.
IPR020473. SH3_region.
[Graphical view]
PfamPF03114. BAR. 1 hit.
PF00018. SH3_1. 1 hit.
[Graphical view]
PRINTSPR00499. P67PHOX.
PR00452. SH3DOMAIN.
SMARTSM00721. BAR. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
PROSITEPS51021. BAR. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio25089.
SOURCESearch...

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Entry information

Entry nameSH3G1_HUMAN
AccessionPrimary (citable) accession number: Q99961
Secondary accession number(s): Q99668
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 1997
Last modified: February 9, 2010
This is version 103 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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.

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Relevant documents

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents