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UniProtKB - O75962 (TRIO_HUMAN)

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Protein

Triple functional domain protein

Gene

TRIO

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

Functioni

Guanine nucleotide exchange factor (GEF) for RHOA and RAC1 GTPases (PubMed:8643598, PubMed:27418539). Involved in coordinating actin remodeling, which is necessary for cell migration and growth (PubMed:10341202). In developing hippocampal neurons, limits dendrite formation, without affecting the establishment of axon polarity. Once dendrites are formed, involved in the control of synaptic function by regulating the endocytosis of AMPA-selective glutamate receptors (AMPARs) at CA1 excitatory synapses (By similarity). May act as a regulator of adipogenesis (By similarity).By similarity3 Publications

Catalytic activityi

ATP + a protein = ADP + a phosphoprotein.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei2825ATPPROSITE-ProRule annotation1
Active sitei2915By similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi2802 – 2810ATPPROSITE-ProRule annotation9

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionGuanine-nucleotide releasing factor, Kinase, Serine/threonine-protein kinase, Transferase
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-193648 NRAGE signals death through JNK
R-HSA-194840 Rho GTPase cycle
R-HSA-416476 G alpha (q) signalling events
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-418885 DCC mediated attractive signaling
SignaLinkiO75962
SIGNORiO75962

Names & Taxonomyi

Protein namesi
Recommended name:
Triple functional domain protein (EC:2.7.11.1)
Alternative name(s):
PTPRF-interacting protein
Gene namesi
Name:TRIO
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000038382.17
HGNCiHGNC:12303 TRIO
MIMi601893 gene
neXtProtiNX_O75962

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

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal dominant 44 (MRD44)2 Publications
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD44 patients manifest developmental delay, variable intellectual disability, distinctive facial features, and abnormalities of the fingers. Most patients also have microcephaly.
See also OMIM:617061
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077093924R → S in MRD44; unknown pathological significance. 1 Publication1
Natural variantiVAR_0770941080N → I in MRD44; unknown pathological significance; no effect on RAC1 activation. 1 PublicationCorresponds to variant dbSNP:rs879255628EnsemblClinVar.1
Natural variantiVAR_0770951238Y → H in MRD44; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs756004023Ensembl.1
Natural variantiVAR_0770961428R → Q in MRD44; strongly reduced RAC1 activation. 1 PublicationCorresponds to variant dbSNP:rs879255626EnsemblClinVar.1
Natural variantiVAR_0770971461P → T in MRD44; strongly reduced RAC1 activation. 1 PublicationCorresponds to variant dbSNP:rs879255627EnsemblClinVar.1
Natural variantiVAR_0770981922A → T in MRD44; unknown pathological significance. 1 Publication1
Natural variantiVAR_0770991939S → N in MRD44; unknown pathological significance. 1 Publication1
Natural variantiVAR_0771002201L → V in MRD44; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs771342869Ensembl.1
Natural variantiVAR_0771012247E → D in MRD44; unknown pathological significance. 1 Publication1
Natural variantiVAR_0771022707R → Q in MRD44; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs768858988Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1299E → A: 50% decrease in nucleotide exchange activity. 1 Publication1
Mutagenesisi1303T → A: 40% decrease in nucleotide exchange activity. 1 Publication1
Mutagenesisi1389N → A: No change in nucleotide exchange activity. 1 Publication1
Mutagenesisi1426V → A: 90% decrease in nucleotide exchange activity. 1 Publication1
Mutagenesisi1427Q → A: 80% decrease in nucleotide exchange activity. 1 Publication1
Mutagenesisi1428R → A: 80% decrease in nucleotide exchange activity. 1 Publication1
Mutagenesisi1430T → A: 80% decrease in nucleotide exchange activity. 1 Publication1
Mutagenesisi1431K → A: Loss of nucleotide exchange activity. 1 Publication1
Mutagenesisi1434L → A: 40% decrease in nucleotide exchange activity. 1 Publication1
Mutagenesisi1437K → A: No change in nucleotide exchange activity. 1 Publication1
Mutagenesisi1438E → A: 30% decrease in nucleotide exchange activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi7204
MalaCardsiTRIO
MIMi617061 phenotype
OpenTargetsiENSG00000038382
PharmGKBiPA36982

Polymorphism and mutation databases

BioMutaiTRIO

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000809781 – 3097Triple functional domain proteinAdd BLAST3097

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1627PhosphoserineBy similarity1
Modified residuei1632PhosphoserineBy similarity1
Modified residuei1633PhosphoserineBy similarity1
Modified residuei1824PhosphothreonineBy similarity1
Modified residuei2282PhosphoserineCombined sources1
Modified residuei2455PhosphoserineCombined sources1
Modified residuei2459PhosphoserineCombined sources1
Modified residuei2631PhosphoserineCombined sources1
Disulfide bondi2696 ↔ 2759PROSITE-ProRule annotation

Post-translational modificationi

Phosphorylated on serine residue(s).

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

EPDiO75962
MaxQBiO75962
PaxDbiO75962
PeptideAtlasiO75962
PRIDEiO75962
ProteomicsDBi50323
50324 [O75962-2]
50325 [O75962-3]
50326 [O75962-4]
50327 [O75962-5]

PTM databases

iPTMnetiO75962
PhosphoSitePlusiO75962

Expressioni

Tissue specificityi

Widely expressed, with highest levels in heart, skeletal muscle, and brain.1 Publication

Gene expression databases

BgeeiENSG00000038382
CleanExiHS_TRIO
ExpressionAtlasiO75962 baseline and differential
GenevisibleiO75962 HS

Organism-specific databases

HPAiHPA008157
HPA064664

Interactioni

Subunit structurei

Interacts with CARMIL1 (PubMed:19846667). Interacts with PTPRF/LAR (PubMed:8643598). Interacts with ANKRD26 (PubMed:22666460).3 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi113055, 33 interactors
DIPiDIP-37578N
IntActiO75962, 15 interactors
MINTiO75962
STRINGi9606.ENSP00000339299

Structurei

Secondary structure

13097
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi1291 – 1316Combined sources26
Helixi1318 – 1324Combined sources7
Turni1331 – 1335Combined sources5
Helixi1337 – 1341Combined sources5
Helixi1344 – 1353Combined sources10
Helixi1355 – 1361Combined sources7
Turni1362 – 1364Combined sources3
Helixi1366 – 1369Combined sources4
Helixi1370 – 1375Combined sources6
Turni1376 – 1380Combined sources5
Helixi1381 – 1400Combined sources20
Turni1401 – 1403Combined sources3
Helixi1404 – 1412Combined sources9
Helixi1418 – 1422Combined sources5
Helixi1424 – 1441Combined sources18
Helixi1450 – 1470Combined sources21
Beta strandi1473 – 1475Combined sources3
Helixi1481 – 1483Combined sources3
Beta strandi1486 – 1495Combined sources10
Beta strandi1497 – 1501Combined sources5
Beta strandi1504 – 1523Combined sources20
Beta strandi1529 – 1538Combined sources10
Helixi1539 – 1541Combined sources3
Beta strandi1542 – 1545Combined sources4
Beta strandi1549 – 1552Combined sources4
Beta strandi1554 – 1562Combined sources9
Turni1565 – 1567Combined sources3
Beta strandi1569 – 1572Combined sources4
Helixi1576 – 1592Combined sources17

3D structure databases

ProteinModelPortaliO75962
SMRiO75962
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO75962

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini65 – 210CRAL-TRIOPROSITE-ProRule annotationAdd BLAST146
Repeati311 – 418Spectrin 1Add BLAST108
Repeati538 – 644Spectrin 2Add BLAST107
Repeati878 – 984Spectrin 3Add BLAST107
Repeati1109 – 1216Spectrin 4Add BLAST108
Domaini1292 – 1467DH 1PROSITE-ProRule annotationAdd BLAST176
Domaini1480 – 1591PH 1PROSITE-ProRule annotationAdd BLAST112
Domaini1656 – 1721SH3 1PROSITE-ProRule annotationAdd BLAST66
Domaini1969 – 2145DH 2PROSITE-ProRule annotationAdd BLAST177
Domaini2157 – 2271PH 2PROSITE-ProRule annotationAdd BLAST115
Domaini2551 – 2616SH3 2PROSITE-ProRule annotationAdd BLAST66
Domaini2685 – 2775Ig-like C2-typeAdd BLAST91
Domaini2796 – 3052Protein kinasePROSITE-ProRule annotationAdd BLAST257

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi715 – 718Poly-Gln4
Compositional biasi1845 – 1850Poly-Ser6
Compositional biasi2292 – 2312Poly-GlyAdd BLAST21
Compositional biasi2545 – 2551Poly-Ser7

Domaini

The N-terminal DBL/GEF domain specifically catalyzes nucleotide exchange for RAC1, leading to the activation of Jun kinase and the production of membrane ruffles. The second DBL/GEF domain is an exchange factor for rhoa and induces the formation of stress fibers.

Sequence similaritiesi

Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.Curated

Keywords - Domaini

Immunoglobulin domain, Repeat, SH3 domain

Phylogenomic databases

eggNOGiKOG0032 Eukaryota
KOG4240 Eukaryota
ENOG410XPCA LUCA
GeneTreeiENSGT00920000148975
HOGENOMiHOG000044462
HOVERGENiHBG108598
InParanoidiO75962
KOiK08810
OMAiAEPIPKM
OrthoDBiEOG091G00JY
PhylomeDBiO75962
TreeFamiTF318080

Family and domain databases

CDDicd00160 RhoGEF, 2 hits
cd00170 SEC14, 1 hit
Gene3Di1.20.900.10, 2 hits
2.30.29.30, 2 hits
2.60.40.10, 1 hit
3.40.525.10, 1 hit
InterProiView protein in InterPro
IPR001251 CRAL-TRIO_dom
IPR036865 CRAL-TRIO_dom_sf
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
IPR011009 Kinase-like_dom_sf
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR000719 Prot_kinase_dom
IPR008271 Ser/Thr_kinase_AS
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
IPR018159 Spectrin/alpha-actinin
IPR002017 Spectrin_repeat
IPR028570 TRIO
PANTHERiPTHR22826:SF104 PTHR22826:SF104, 6 hits
PfamiView protein in Pfam
PF00650 CRAL_TRIO, 1 hit
PF07679 I-set, 1 hit
PF00169 PH, 2 hits
PF00069 Pkinase, 1 hit
PF00621 RhoGEF, 2 hits
PF00018 SH3_1, 1 hit
PF00435 Spectrin, 4 hits
SMARTiView protein in SMART
SM00409 IG, 1 hit
SM00408 IGc2, 1 hit
SM00233 PH, 2 hits
SM00325 RhoGEF, 2 hits
SM00220 S_TKc, 1 hit
SM00516 SEC14, 1 hit
SM00326 SH3, 2 hits
SM00150 SPEC, 6 hits
SUPFAMiSSF48065 SSF48065, 2 hits
SSF48726 SSF48726, 1 hit
SSF50044 SSF50044, 2 hits
SSF52087 SSF52087, 1 hit
SSF56112 SSF56112, 1 hit
PROSITEiView protein in PROSITE
PS50191 CRAL_TRIO, 1 hit
PS50010 DH_2, 2 hits
PS50835 IG_LIKE, 1 hit
PS50003 PH_DOMAIN, 2 hits
PS50011 PROTEIN_KINASE_DOM, 1 hit
PS00108 PROTEIN_KINASE_ST, 1 hit
PS50002 SH3, 2 hits

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O75962-1) [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
MSGSSGGAAA PAASSGPAAA ASAAGSGCGG GAGEGAEEAA KDLADIAAFF 
        60         70         80         90        100
RSGFRKNDEM KAMDVLPILK EKVAYLSGGR DKRGGPILTF PARSNHDRIR 
       110        120        130        140        150
QEDLRRLISY LACIPSEEVC KRGFTVIVDM RGSKWDSIKP LLKILQESFP 
       160        170        180        190        200
CCIHVALIIK PDNFWQKQRT NFGSSKFEFE TNMVSLEGLT KVVDPSQLTP 
       210        220        230        240        250
EFDGCLEYNH EEWIEIRVAF EDYISNATHM LSRLEELQDI LAKKELPQDL 
       260        270        280        290        300
EGARNMIEEH SQLKKKVIKA PIEDLDLEGQ KLLQRIQSSE SFPKKNSGSG 
       310        320        330        340        350
NADLQNLLPK VSTMLDRLHS TRQHLHQMWH VRKLKLDQCF QLRLFEQDAE 
       360        370        380        390        400
KMFDWITHNK GLFLNSYTEI GTSHPHAMEL QTQHNHFAMN CMNVYVNINR 
       410        420        430        440        450
IMSVANRLVE SGHYASQQIR QIASQLEQEW KAFAAALDER STLLDMSSIF 
       460        470        480        490        500
HQKAEKYMSN VDSWCKACGE VDLPSELQDL EDAIHHHQGI YEHITLAYSE 
       510        520        530        540        550
VSQDGKSLLD KLQRPLTPGS SDSLTASANY SKAVHHVLDV IHEVLHHQRQ 
       560        570        580        590        600
LENIWQHRKV RLHQRLQLCV FQQDVQQVLD WIENHGEAFL SKHTGVGKSL 
       610        620        630        640        650
HRARALQKRH EDFEEVAQNT YTNADKLLEA AEQLAQTGEC DPEEIYQAAH 
       660        670        680        690        700
QLEDRIQDFV RRVEQRKILL DMSVSFHTHV KELWTWLEEL QKELLDDVYA 
       710        720        730        740        750
ESVEAVQDLI KRFGQQQQTT LQVTVNVIKE GEDLIQQLRD SAISSNKTPH 
       760        770        780        790        800
NSSINHIETV LQQLDEAQSQ MEELFQERKI KLELFLQLRI FERDAIDIIS 
       810        820        830        840        850
DLESWNDELS QQMNDFDTED LTIAEQRLQH HADKALTMNN LTFDVIHQGQ 
       860        870        880        890        900
DLLQYVNEVQ ASGVELLCDR DVDMATRVQD LLEFLHEKQQ ELDLAAEQHR 
       910        920        930        940        950
KHLEQCVQLR HLQAEVKQVL GWIRNGESML NAGLITASSL QEAEQLQREH 
       960        970        980        990       1000
EQFQHAIEKT HQSALQVQQK AEAMLQANHY DMDMIRDCAE KVASHWQQLM 
      1010       1020       1030       1040       1050
LKMEDRLKLV NASVAFYKTS EQVCSVLESL EQEYKREEDW CGGADKLGPN 
      1060       1070       1080       1090       1100
SETDHVTPMI SKHLEQKEAF LKACTLARRN ADVFLKYLHR NSVNMPGMVT 
      1110       1120       1130       1140       1150
HIKAPEQQVK NILNELFQRE NRVLHYWTMR KRRLDQCQQY VVFERSAKQA 
      1160       1170       1180       1190       1200
LEWIHDNGEF YLSTHTSTGS SIQHTQELLK EHEEFQITAK QTKERVKLLI 
      1210       1220       1230       1240       1250
QLADGFCEKG HAHAAEIKKC VTAVDKRYRD FSLRMEKYRT SLEKALGISS 
      1260       1270       1280       1290       1300
DSNKSSKSLQ LDIIPASIPG SEVKLRDAAH ELNEEKRKSA RRKEFIMAEL 
      1310       1320       1330       1340       1350
IQTEKAYVRD LRECMDTYLW EMTSGVEEIP PGIVNKELII FGNMQEIYEF 
      1360       1370       1380       1390       1400
HNNIFLKELE KYEQLPEDVG HCFVTWADKF QMYVTYCKNK PDSTQLILEH 
      1410       1420       1430       1440       1450
AGSYFDEIQQ RHGLANSISS YLIKPVQRIT KYQLLLKELL TCCEEGKGEI 
      1460       1470       1480       1490       1500
KDGLEVMLSV PKRANDAMHL SMLEGFDENI ESQGELILQE SFQVWDPKTL 
      1510       1520       1530       1540       1550
IRKGRERHLF LFEMSLVFSK EVKDSSGRSK YLYKSKLFTS ELGVTEHVEG 
      1560       1570       1580       1590       1600
DPCKFALWVG RTPTSDNKIV LKASSIENKQ DWIKHIREVI QERTIHLKGA 
      1610       1620       1630       1640       1650
LKEPIHIPKT APATRQKGRR DGEDLDSQGD GSSQPDTISI ASRTSQNTLD 
      1660       1670       1680       1690       1700
SDKLSGGCEL TVVIHDFTAC NSNELTIRRG QTVEVLERPH DKPDWCLVRT 
      1710       1720       1730       1740       1750
TDRSPAAEGL VPCGSLCIAH SRSSMEMEGI FNHKDSLSVS SNDASPPASV 
      1760       1770       1780       1790       1800
ASLQPHMIGA QSSPGPKRPG NTLRKWLTSP VRRLSSGKAD GHVKKLAHKH 
      1810       1820       1830       1840       1850
KKSREVRKSA DAGSQKDSDD SAATPQDETV EERGRNEGLS SGTLSKSSSS 
      1860       1870       1880       1890       1900
GMQSCGEEEG EEGADAVPLP PPMAIQQHSL LQPDSQDDKA SSRLLVRPTS 
      1910       1920       1930       1940       1950
SETPSAAELV SAIEELVKSK MALEDRPSSL LVDQGDSSSP SFNPSDNSLL 
      1960       1970       1980       1990       2000
SSSSPIDEME ERKSSSLKRR HYVLQELVET ERDYVRDLGY VVEGYMALMK 
      2010       2020       2030       2040       2050
EDGVPDDMKG KDKIVFGNIH QIYDWHRDFF LGELEKCLED PEKLGSLFVK 
      2060       2070       2080       2090       2100
HERRLHMYIA YCQNKPKSEH IVSEYIDTFF EDLKQRLGHR LQLTDLLIKP 
      2110       2120       2130       2140       2150
VQRIMKYQLL LKDFLKYSKK ASLDTSELER AVEVMCIVPR RCNDMMNVGR 
      2160       2170       2180       2190       2200
LQGFDGKIVA QGKLLLQDTF LVTDQDAGLL PRCRERRIFL FEQIVIFSEP 
      2210       2220       2230       2240       2250
LDKKKGFSMP GFLFKNSIKV SCLCLEENVE NDPCKFALTS RTGDVVETFI 
      2260       2270       2280       2290       2300
LHSSSPSVRQ TWIHEINQIL ENQRNFLNAL TSPIEYQRNH SGGGGGGGSG 
      2310       2320       2330       2340       2350
GSGGGGGSGG GGAPSGGSGH SGGPSSCGGA PSTSRSRPSR IPQPVRHHPP 
      2360       2370       2380       2390       2400
VLVSSAASSQ AEADKMSGTS TPGPSLPPPG AAPEAGPSAP SRRPPGADAE 
      2410       2420       2430       2440       2450
GSEREAEPIP KMKVLESPRK GAANASGSSP DAPAKDARAS LGTLPLGKPR 
      2460       2470       2480       2490       2500
AGAASPLNSP LSSAVPSLGK EPFPPSSPLQ KGGSFWSSIP ASPASRPGSF 
      2510       2520       2530       2540       2550
TFPGDSDSLQ RQTPRHAAPG KDTDRMSTCS SASEQSVQST QSNGSESSSS 
      2560       2570       2580       2590       2600
SNISTMLVTH DYTAVKEDEI NVYQGEVVQI LASNQQNMFL VFRAATDQCP 
      2610       2620       2630       2640       2650
AAEGWIPGFV LGHTSAVIVE NPDGTLKKST SWHTALRLRK KSEKKDKDGK 
      2660       2670       2680       2690       2700
REGKLENGYR KSREGLSNKV SVKLLNPNYI YDVPPEFVIP LSEVTCETGE 
      2710       2720       2730       2740       2750
TVVLRCRVCG RPKASITWKG PEHNTLNNDG HYSISYSDLG EATLKIVGVT 
      2760       2770       2780       2790       2800
TEDDGIYTCI AVNDMGSASS SASLRVLGPG MDGIMVTWKD NFDSFYSEVA 
      2810       2820       2830       2840       2850
ELGRGRFSVV KKCDQKGTKR AVATKFVNKK LMKRDQVTHE LGILQSLQHP 
      2860       2870       2880       2890       2900
LLVGLLDTFE TPTSYILVLE MADQGRLLDC VVRWGSLTEG KIRAHLGEVL 
      2910       2920       2930       2940       2950
EAVRYLHNCR IAHLDLKPEN ILVDESLAKP TIKLADFGDA VQLNTTYYIH 
      2960       2970       2980       2990       3000
QLLGNPEFAA PEIILGNPVS LTSDTWSVGV LTYVLLSGVS PFLDDSVEET 
      3010       3020       3030       3040       3050
CLNICRLDFS FPDDYFKGVS QKAKEFVCFL LQEDPAKRPS AALALQEQWL 
      3060       3070       3080       3090 
QAGNGRSTGV LDTSRLTSFI ERRKHQNDVR PIRSIKNFLQ SRLLPRV
Length:3,097
Mass (Da):346,900
Last modified:September 1, 2009 - v2
Checksum:iEA9236DF88B0EA24
GO
Isoform 2 (identifier: O75962-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2368-2368: G → E
     2369-2544: Missing.

Show »
Length:2,921
Mass (Da):329,389
Checksum:i7F2AEF630EF984C9
GO
Isoform 3 (identifier: O75962-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2501: Missing.
     2502-2544: FPGDSDSLQR...QSVQSTQSNG → MLPSQAQGLL...LARNTFLKAC

Note: No experimental confirmation available.
Show »
Length:596
Mass (Da):66,206
Checksum:iF6DA7D25AE9E7F0C
GO
Isoform 4 (identifier: O75962-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-59: Missing.

Note: No experimental confirmation available.
Show »
Length:3,038
Mass (Da):341,598
Checksum:i2E9F96D84514638C
GO
Isoform 5 (identifier: O75962-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2545-2563: SESSSSSNISTMLVTHDYT → VSASGGPRPPAPLPLSRQL
     2564-3097: Missing.

Note: No experimental confirmation available.
Show »
Length:2,563
Mass (Da):287,377
Checksum:iD55716EE24B33EFE
GO

Sequence cautioni

The sequence AAC34245 differs from that shown. Reason: Frameshift at position 2301.Curated
Isoform 2 : The sequence AAC34245 differs from that shown. Reason: Frameshift at position 2301.Curated
The sequence AAC34245 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAC43042 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti550 – 553QLEN → HVRT in AAC34245 (PubMed:8643598).Curated4
Sequence conflicti550 – 553QLEN → HVRT in AAC43042 (Ref. 6) Curated4
Sequence conflicti574D → E in AAC34245 (PubMed:8643598).Curated1
Sequence conflicti574D → E in AAC43042 (Ref. 6) Curated1
Sequence conflicti787 – 788QL → HV in AAC34245 (PubMed:8643598).Curated2
Sequence conflicti787 – 788QL → HV in AAC43042 (Ref. 6) Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_041899291S → T1 PublicationCorresponds to variant dbSNP:rs55772118Ensembl.1
Natural variantiVAR_059802348D → E. Corresponds to variant dbSNP:rs16903367Ensembl.1
Natural variantiVAR_077093924R → S in MRD44; unknown pathological significance. 1 Publication1
Natural variantiVAR_0770941080N → I in MRD44; unknown pathological significance; no effect on RAC1 activation. 1 PublicationCorresponds to variant dbSNP:rs879255628EnsemblClinVar.1
Natural variantiVAR_0770951238Y → H in MRD44; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs756004023Ensembl.1
Natural variantiVAR_0693711368D → V Found in patient with severe intellectual disability; unknown pathological significance. 1 Publication1
Natural variantiVAR_0770961428R → Q in MRD44; strongly reduced RAC1 activation. 1 PublicationCorresponds to variant dbSNP:rs879255626EnsemblClinVar.1
Natural variantiVAR_0770971461P → T in MRD44; strongly reduced RAC1 activation. 1 PublicationCorresponds to variant dbSNP:rs879255627EnsemblClinVar.1
Natural variantiVAR_0598031613A → T. Corresponds to variant dbSNP:rs16903474Ensembl.1
Natural variantiVAR_0419001644T → M1 PublicationCorresponds to variant dbSNP:rs55687522Ensembl.1
Natural variantiVAR_0419011690H → R1 PublicationCorresponds to variant dbSNP:rs56292586Ensembl.1
Natural variantiVAR_0770981922A → T in MRD44; unknown pathological significance. 1 Publication1
Natural variantiVAR_0770991939S → N in MRD44; unknown pathological significance. 1 Publication1
Natural variantiVAR_0419021978V → M in a metastatic melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_0771002201L → V in MRD44; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs771342869Ensembl.1
Natural variantiVAR_0419032242T → M1 PublicationCorresponds to variant dbSNP:rs55916212Ensembl.1
Natural variantiVAR_0771012247E → D in MRD44; unknown pathological significance. 1 Publication1
Natural variantiVAR_0693722563T → M Found in patient with severe intellectual disability; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs751663099Ensembl.1
Natural variantiVAR_0771022707R → Q in MRD44; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs768858988Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0233061 – 2501Missing in isoform 3. 1 PublicationAdd BLAST2501
Alternative sequenceiVSP_0378601 – 59Missing in isoform 4. 1 PublicationAdd BLAST59
Alternative sequenceiVSP_0044672368G → E in isoform 2. 1 Publication1
Alternative sequenceiVSP_0044682369 – 2544Missing in isoform 2. 1 PublicationAdd BLAST176
Alternative sequenceiVSP_0233072502 – 2544FPGDS…TQSNG → MLPSQAQGLLWWVFPLFPAS SLSYPPVSYRADGLARNTFL KAC in isoform 3. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_0378612545 – 2563SESSS…THDYT → VSASGGPRPPAPLPLSRQL in isoform 5. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_0378622564 – 3097Missing in isoform 5. 1 PublicationAdd BLAST534

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK131423 mRNA Translation: BAD18570.1
AC010419 Genomic DNA No translation available.
AC016549 Genomic DNA No translation available.
AC016654 Genomic DNA No translation available.
AC016656 Genomic DNA No translation available.
AC026456 Genomic DNA No translation available.
CH471102 Genomic DNA Translation: EAX08047.1
CH471102 Genomic DNA Translation: EAX08048.1
BC035585 mRNA Translation: AAH35585.1
BC017268 mRNA Translation: AAH17268.1
U42390 mRNA Translation: AAC34245.1 Sequence problems.
AF091395 mRNA Translation: AAC43042.1 Different initiation.
AB209754 mRNA Translation: BAD92991.1
CCDSiCCDS3883.1 [O75962-1]
RefSeqiNP_009049.2, NM_007118.3 [O75962-1]
XP_011512412.1, XM_011514110.2 [O75962-4]
UniGeneiHs.130031

Genome annotation databases

EnsembliENST00000344135; ENSP00000339291; ENSG00000038382 [O75962-3]
ENST00000344204; ENSP00000339299; ENSG00000038382 [O75962-1]
GeneIDi7204
KEGGihsa:7204
UCSCiuc003jff.4 human [O75962-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTRIO_HUMAN
AccessioniPrimary (citable) accession number: O75962
Secondary accession number(s): D3DTD1
, Q13458, Q59EQ7, Q6PJC9, Q6ZN05, Q8IWK8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: September 1, 2009
Last modified: July 18, 2018
This is version 193 of the entry and version 2 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. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  7. SIMILARITY comments
    Index of protein domains and families

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