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Q99961 (SH3G1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 145. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:SH3GL1
Synonyms:CNSA1, SH3D2B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length368 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 SYNJ1 and DNM1. Interacts with PDCD6IP. Interacts with BIN2. Ref.8 Ref.9 Ref.16

Subcellular location

Cytoplasm By similarity. Early endosome membrane; Peripheral membrane protein By similarity. Cell projectionpodosome. Note: Associated with postsynaptic endosomes in hippocampal neurons By similarity. Ref.16

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 KMT2A/MLL1-EEN fusion gene.

Sequence similarities

Belongs to the endophilin family.

Contains 1 BAR domain.

Contains 1 SH3 domain.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q99961-1)

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: Q99961-2)

The sequence of this isoform differs from the canonical sequence as follows:
     63-110: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q99961-3)

The sequence of this isoform differs from the canonical sequence as follows:
     80-143: Missing.
Note: No experimental confirmation available.

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 KMT2A/MLL1-EEN oncogene

Amino acid modifications

Modified residue2881Phosphoserine Ref.11 Ref.13 Ref.15
Modified residue3151Phosphotyrosine By similarity

Natural variations

Alternative sequence63 – 11048Missing in isoform 2.
VSP_045837
Alternative sequence80 – 14364Missing in isoform 3.
VSP_047037

Experimental info

Sequence conflict3161D → G in BAG61213. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 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

Isoform 2 [UniParc].

Checksum: 1D0826E00AC0EA31
Show »

FASTA32036,304
Isoform 3 [UniParc].

Checksum: D761B54F4160CC82
Show »

FASTA30434,519

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]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHROMOSOMAL TRANSLOCATION.
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]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
[6]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Cervix.
[8]"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.
[9]"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] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH PDCD6IP.
[10]"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] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Platelet.
[11]"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] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-288, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[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] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-288, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[14]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[15]"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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-288, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[16]"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, SUBCELLULAR LOCATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001186872.1. NM_001199943.1.
NP_001186873.1. NM_001199944.1.
NP_003016.1. NM_003025.3.
UniGeneHs.97616.

3D structure databases

ProteinModelPortalQ99961.
SMRQ99961. Positions 26-247, 305-368.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112352. 52 interactions.
IntActQ99961. 22 interactions.
MINTMINT-128645.
STRING9606.ENSP00000269886.

PTM databases

PhosphoSiteQ99961.

Polymorphism databases

DMDM12643797.

2D gel databases

OGPQ99961.

Proteomic databases

PaxDbQ99961.
PeptideAtlasQ99961.
PRIDEQ99961.

Protocols and materials databases

DNASU6455.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000269886; ENSP00000269886; ENSG00000141985. [Q99961-1]
ENST00000417295; ENSP00000404568; ENSG00000141985. [Q99961-2]
ENST00000598564; ENSP00000470792; ENSG00000141985. [Q99961-3]
GeneID6455.
KEGGhsa:6455.
UCSCuc002maj.3. human. [Q99961-1]

Organism-specific databases

CTD6455.
GeneCardsGC19M004360.
HGNCHGNC:10830. SH3GL1.
HPAHPA021485.
MIM601768. gene.
neXtProtNX_Q99961.
PharmGKBPA35736.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG307129.
HOGENOMHOG000231641.
HOVERGENHBG052866.
InParanoidQ99961.
KOK11247.
OMAFRDLERK.
OrthoDBEOG7G1V6H.
PhylomeDBQ99961.
TreeFamTF313281.

Gene expression databases

ArrayExpressQ99961.
BgeeQ99961.
CleanExHS_SH3GL1.
GenevestigatorQ99961.

Family and domain databases

Gene3D1.20.1270.60. 1 hit.
InterProIPR027267. AH/BAR-dom.
IPR004148. BAR_dom.
IPR001452. SH3_domain.
[Graphical view]
PfamPF03114. BAR. 1 hit.
PF00018. SH3_1. 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

GeneWikiSH3GL1.
GenomeRNAi6455.
NextBio25089.
PROQ99961.
SOURCESearch...

Entry information

Entry nameSH3G1_HUMAN
AccessionPrimary (citable) accession number: Q99961
Secondary accession number(s): B4DRA1 expand/collapse secondary AC list , E7EVZ4, M0QZV5, Q99668
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 1997
Last modified: April 16, 2014
This is version 145 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

MIM cross-references

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

Human chromosome 19

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