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Reviewed, UniProtKB/Swiss-Prot O43295 (SRGP2_HUMAN)

Last modified November 3, 2009. Version 92. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    SLIT-ROBO Rho GTPase-activating protein 3
      Short name=srGAP3
Alternative name(s):
    srGAP2
    WAVE-associated Rac GTPase-activating protein
      Short name=WRP
    Mental disorder-associated GAP
    Rho GTPase-activating protein 14
Gene names
Name: SRGAP3
Synonyms: ARHGAP14, KIAA0411, KIAA1156, MEGAP, SRGAP2
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1099 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

GTPase-activating protein for RAC1 and perhaps Cdc42, but not for RhoA small GTPase. May attenuate RAC1 signaling in neurons. Ref.1 Ref.2

Subunit structure

Interacts with WASF1. Probably interacts with ROBO1. Ref.1 Ref.5

Tissue specificity

Highly expressed in adult and fetal brain. Expressed at low levels in kidney. Ref.1 Ref.2

Involvement in disease

A chromosomal aberration involving SRGAP3 is found in a patient with severe idiopathic mental retardation. Translocation t(X;3)(p11.2;p25).

Sequence similarities

Contains 1 FCH domain.

Contains 1 Rho-GAP domain.

Contains 1 SH3 domain.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
Polymorphism
   DomainCoiled coil
SH3 domain
   Molecular functionGTPase activation
   PTMAcetylation
Phosphoprotein
   Technical termComplete proteome
Gene Ontology (GO)
   Biological processsignal transduction

Inferred from electronic annotation. Source: InterPro

   Cellular componentintracellular

Inferred from electronic annotation. Source: InterPro

   Molecular functionGTPase activator activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O43295-1)

Also known as: MEGAPa;

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: O43295-2)

Also known as: MEGAPb;

The sequence of this isoform differs from the canonical sequence as follows:
     480-513: PPCLPPKPQKMRRPRPLSVYSHKLFNGSMEAFIK → GRRNARTRNQ
Isoform 3 (identifier: O43295-3)

Also known as: MEGAPc;

The sequence of this isoform differs from the canonical sequence as follows:
     480-489: PPCLPPKPQK → IQDKLYRL
     490-1099: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10991099SLIT-ROBO Rho GTPase-activating protein 3
PRO_0000056769

Regions

Domain22 – 8766FCH
Domain482 – 670189Rho-GAP
Domain720 – 77960SH3
Coiled coil352 – 39241 Potential
Coiled coil952 – 98736 Potential

Amino acid modifications

Modified residue2201N6-acetyllysine Ref.8
Modified residue2221N6-acetyllysine Ref.8
Modified residue2241N6-acetyllysine Ref.8
Modified residue6021Phosphoserine Ref.6
Modified residue8371Phosphoserine Ref.7
Modified residue8581Phosphoserine Ref.7
Modified residue10701Phosphoserine By similarity

Natural variations

Alternative sequence480 – 51334PPCLP…EAFIK → GRRNARTRNQ in isoform 2.
VSP_010581
Alternative sequence480 – 48910PPCLPPKPQK → IQDKLYRL in isoform 3.
VSP_010582
Alternative sequence490 – 1099610Missing in isoform 3.
VSP_010583
Natural variant6231L → I in a breast cancer sample; somatic mutation. Ref.9
VAR_035550
Natural variant6281I → V: dbSNP rs2271207.
VAR_049159

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (MEGAPa) [UniParc].

Last modified June 7, 2004. Version 3.
Checksum: 2D1BA2D338E1BF13

FASTA1,099124,504
        10         20         30         40         50         60 
MSSQTKFKKD KEIIAEYEAQ IKEIRTQLVE QFKCLEQQSE SRLQLLQDLQ EFFRRKAEIE 

        70         80         90        100        110        120 
LEYSRSLEKL AERFSSKIRS SREHQFKKDQ YLLSPVNCWY LVLHQTRRES RDHATLNDIF 

       130        140        150        160        170        180 
MNNVIVRLSQ ISEDVIRLFK KSKEIGLQMH EELLKVTNEL YTVMKTYHMY HAESISAESK 

       190        200        210        220        230        240 
LKEAEKQEEK QFNKSGDLSM NLLRHEDRPQ RRSSVKKIEK MKEKRQAKYS ENKLKCTKAR 

       250        260        270        280        290        300 
NDYLLNLAAT NAAISKYYIH DVSDLIDCCD LGFHASLART FRTYLSAEYN LETSRHEGLD 

       310        320        330        340        350        360 
VIENAVDNLD SRSDKHTVMD MCNQVFCPPL KFEFQPHMGD EVCQVSAQQP VQTELLMRYH 

       370        380        390        400        410        420 
QLQSRLATLK IENEEVRKTL DATMQTLQDM LTVEDFDVSD AFQHSRSTES VKSAASETYM 

       430        440        450        460        470        480 
SKINIAKRRA NQQETEMFYF TKFKEYVNGS NLITKLQAKH DLLKQTLGEG ERAECGTTRP 

       490        500        510        520        530        540 
PCLPPKPQKM RRPRPLSVYS HKLFNGSMEA FIKDSGQAIP LVVESCIRYI NLYGLQQQGI 

       550        560        570        580        590        600 
FRVPGSQVEV NDIKNSFERG EDPLVDDQNE RDINSVAGVL KLYFRGLENP LFPKERFQDL 

       610        620        630        640        650        660 
ISTIKLENPA ERVHQIQQIL VTLPRVVIVV MRYLFAFLNH LSQYSDENMM DPYNLAICFG 

       670        680        690        700        710        720 
PTLMHIPDGQ DPVSCQAHIN EVIKTIIIHH EAIFPSPREL EGPVYEKCMA GGEEYCDSPH 

       730        740        750        760        770        780 
SEPGAIDEVD HDNGTEPHTS DEEVEQIEAI AKFDYMGRSP RELSFKKGAS LLLYHRASED 

       790        800        810        820        830        840 
WWEGRHNGVD GLIPHQYIVV QDMDDAFSDS LSQKADSEAS SGPLLDDKAS SKNDLQSPTE 

       850        860        870        880        890        900 
HISDYGFGGV MGRVRLRSDG AAIPRRRSGG DTHSPPRGLG PSIDTPPRAA ACPSSPHKIP 

       910        920        930        940        950        960 
LTRGRIESPE KRRMATFGSA GSINYPDKKA LSEGHSMRST CGSTRHSSLG DHKSLEAEAL 

       970        980        990       1000       1010       1020 
AEDIEKTMST ALHELRELER QNTVKQAPDV VLDTLEPLKN PPGPVSSEPA SPLHTIVIRD 

      1030       1040       1050       1060       1070       1080 
PDAAMRRSSS SSTEMMTTFK PALSARLAGA QLRPPPMRPV RPVVQHRSSS SSSSGVGSPA 

      1090 
VTPTEKMFPN SSADKSGTM 

« Hide

Isoform 2 (MEGAPb).

Checksum: 442CA4D408B1F157
Show »

FASTA1,075121,780
Isoform 3 (MEGAPc).

Checksum: 1C99D701F9A3563B
Show »

FASTA48757,227

References

« Hide 'large scale' references
[1]"The WRP component of the WAVE-1 complex attenuates Rac-mediated signalling."
Soderling S.H., Binns K.L., Wayman G.A., Davee S.M., Ong S.H., Pawson T., Scott J.D.
Nat. Cell Biol. 4:970-975(2002) [PubMed: 12447388] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, TISSUE SPECIFICITY, INTERACTION WITH WASF1.
[2]"The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation."
Endris V., Wogatzky B., Leimer U., Bartsch D., Zatyka M., Latif F., Maher E.R., Tariverdian G., Kirsch S., Karch D., Rappold G.A.
Proc. Natl. Acad. Sci. U.S.A. 99:11754-11759(2002) [PubMed: 12195014] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING (ISOFORMS 2 AND 3), FUNCTION, TISSUE SPECIFICITY, CHROMOSOMAL TRANSLOCATION.
[3]"Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro."
Ishikawa K., Nagase T., Nakajima D., Seki N., Ohira M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 4:307-313(1997) [PubMed: 9455477] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 15-1099 (ISOFORM 2).
Tissue: Brain.
[4]"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
DNA Res. 9:99-106(2002) [PubMed: 12168954] [Abstract]
Cited for: SEQUENCE REVISION.
[5]"Signal transduction in neuronal migration: roles of GTPase activating proteins and the small GTPase Cdc42 in the Slit-Robo pathway."
Wong K., Ren X.R., Huang Y.Z., Xie Y., Liu G., Saito H., Tang H., Wen L., Brady-Kalnay S.M., Mei L., Wu J.Y., Xiong W.C., Rao Y.
Cell 107:209-221(2001) [PubMed: 11672528] [Abstract]
Cited for: INTERACTION WITH ROBO1.
[6]"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-602, MASS SPECTROMETRY.
Tissue: Platelet.
[7]"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-837 AND SER-858, MASS SPECTROMETRY.
[8]"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M.
Science 325:834-840(2009) [PubMed: 19608861] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-220; LYS-222 AND LYS-224, MASS SPECTROMETRY.
[9]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed: 16959974] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-623.
+Additional computationally mapped references.

Cross-references

Sequence databases

AF464189 mRNA. Translation: AAN57784.1.
AF427144 mRNA. Translation: AAN07095.1.
AB007871 mRNA. Translation: BAA24841.2.
IPIIPI00218087.
IPI00412209.
IPI00412210.
RefSeqNP_001028289.1.
NP_055665.1.
UniGeneHs.654743

3D structure databases

HSSPHSSP built from PDB template 1AZE based on UniProtKB P29354.
SMRO43295. Positions 749-800.
ModBaseSearch...

Protein-protein interaction databases

IntActO43295. 2 interactions.
STRINGO43295.

PTM databases

PhosphoSiteO43295.

Proteomic databases

PRIDEO43295.

Genome annotation databases

EnsemblENST00000360413; ENSP00000353587; ENSG00000196220; Homo sapiens. [Genome view]
ENST00000383836; ENSP00000373347; ENSG00000196220; Homo sapiens. [Genome view]
ENST00000433332; ENSP00000406259; ENSG00000196220; Homo sapiens. [Genome view]
GeneID9901.
KEGGhsa:9901.
UCSCuc003brf.1. human.
uc003brg.1. human.

Organism-specific databases

CTD9901.
GeneCardsGC03M008998.
H-InvDBHIX0003024.
HIX0077832.
HGNCHGNC:19744. SRGAP3.
MIM606525. gene.
PharmGKBPA134935463.
HUGESearch...
Search...
GenAtlasSearch...

Phylogenomic databases

HOGENOMO43295.
HOVERGENO43295.
OMACPSSPHK.

Enzyme and pathway databases

ReactomeREACT_11044. Signaling by Rho GTPases.
REACT_18266. Axon guidance.

Gene expression databases

ArrayExpressO43295.
BgeeO43295.
CleanExHS_SRGAP2.
HS_SRGAP3.
GenevestigatorO43295.
GermOnlineENSG00000196220. Homo sapiens.

Family and domain databases

InterProIPR001060. FCH.
IPR000198. RhoGAP.
IPR001452. SH3_domain.
[Graphical view]
Gene3DG3DSA:1.10.555.10. RhoGAP. 1 hit.
PfamPF00611. FCH. 1 hit.
PF00620. RhoGAP. 1 hit.
PF00018. SH3_1. 1 hit.
[Graphical view]
ProDomPD000066. SH3. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTSM00055. FCH. 1 hit.
SM00324. RhoGAP. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
PROSITEPS50133. FCH. 1 hit.
PS50238. RHOGAP. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio37331.
SOURCESearch...

Entry information

Entry nameSRGP2_HUMAN
AccessionPrimary (citable) accession number: O43295
Secondary accession number(s): Q8IX13, Q8IZV8
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: June 7, 2004
Last modified: November 3, 2009
This is version 92 of the entry and version 3 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.

Relevant documents

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

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 · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents