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Q96MS0 (ROBO3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Roundabout homolog 3
Alternative name(s):
Roundabout-like protein 3
Gene names
Name:ROBO3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1386 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Thought to be involved during neural development in axonal navigation at the ventral midline of the neural tube. In spinal chord development plays a role in guiding commissural axons probably by preventing premature sensitivity to Slit proteins thus inhibiting Slit signaling through ROBO1 By similarity. Required for hindbrain axon midline crossing. Ref.1

Subunit structure

Probably interacts with SLIT2 By similarity.

Subcellular location

Membrane; Single-pass type I membrane protein Potential.

Involvement in disease

Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]: Patients show a medulla where motor and sensory projections appear uncrossed.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1

Sequence similarities

Belongs to the immunoglobulin superfamily. ROBO family.

Contains 3 fibronectin type-III domains.

Contains 5 Ig-like C2-type (immunoglobulin-like) domains.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96MS0-1)

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: Q96MS0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1025-1034: AGEELQTFHG → LTTPLLILTT
     1035-1386: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2020 Potential
Chain21 – 13861366Roundabout homolog 3
PRO_0000031038

Regions

Topological domain21 – 891871Extracellular Potential
Transmembrane892 – 91221Helical; Potential
Topological domain913 – 1386474Cytoplasmic Potential
Domain64 – 16097Ig-like C2-type 1
Domain166 – 25388Ig-like C2-type 2
Domain258 – 34285Ig-like C2-type 3
Domain347 – 44094Ig-like C2-type 4
Domain450 – 53182Ig-like C2-type 5
Domain558 – 65295Fibronectin type-III 1
Domain671 – 76696Fibronectin type-III 2
Domain771 – 86999Fibronectin type-III 3

Amino acid modifications

Modified residue12631Phosphoserine Ref.3
Glycosylation251N-linked (GlcNAc...) Potential
Glycosylation341N-linked (GlcNAc...) Potential
Glycosylation411N-linked (GlcNAc...) Potential
Glycosylation531N-linked (GlcNAc...) Potential
Glycosylation1561N-linked (GlcNAc...) Potential
Glycosylation4101N-linked (GlcNAc...) Potential
Glycosylation4591N-linked (GlcNAc...) Potential
Glycosylation5031N-linked (GlcNAc...) Potential
Glycosylation7841N-linked (GlcNAc...) Potential
Glycosylation8131N-linked (GlcNAc...) Potential
Glycosylation8201N-linked (GlcNAc...) Potential
Disulfide bond85 ↔ 143 Potential
Disulfide bond187 ↔ 236 Potential
Disulfide bond279 ↔ 326 Potential
Disulfide bond368 ↔ 424 Potential
Disulfide bond472 ↔ 521 Potential

Natural variations

Alternative sequence1025 – 103410AGEELQTFHG → LTTPLLILTT in isoform 2.
VSP_010650
Alternative sequence1035 – 1386352Missing in isoform 2.
VSP_010651
Natural variant51L → P in HGPPS. Ref.1
VAR_019119
Natural variant661I → L in HGPPS. Ref.1
VAR_019120
Natural variant3191E → K in HGPPS. Ref.1
VAR_019073
Natural variant3611G → E in HGPPS. Ref.1
VAR_019121
Natural variant4161R → H.
Corresponds to variant rs3862618 [ dbSNP | Ensembl ].
VAR_053642
Natural variant4231V → M. Ref.2
Corresponds to variant rs4935898 [ dbSNP | Ensembl ].
VAR_034474
Natural variant7031R → P in HGPPS. Ref.1
VAR_019074
Natural variant7051S → P in HGPPS. Ref.1
VAR_019075
Natural variant8681P → L. Ref.2
Corresponds to variant rs55706177 [ dbSNP | Ensembl ].
VAR_062145
Natural variant13691Q → R.
Corresponds to variant rs35723495 [ dbSNP | Ensembl ].
VAR_034475

Sequences

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

Last modified June 21, 2004. Version 2.
Checksum: 955A7300A2BDA27F

FASTA1,386148,209
        10         20         30         40         50         60 
MLRYLLKTLL QMNLFADSLA GDISNSSELL LGFNSSLAAL NHTLLPPGDP SLNGSRVGPE 

        70         80         90        100        110        120 
DAMPRIVEQP PDLLVSRGEP ATLPCRAEGR PRPNIEWYKN GARVATVRED PRAHRLLLPS 

       130        140        150        160        170        180 
GALFFPRIVH GRRARPDEGV YTCVARNYLG AAASRNASLE VAVLRDDFRQ SPGNVVVAVG 

       190        200        210        220        230        240 
EPAVLECVPP RGHPEPSVSW RKDGARLKEE EGRITIRGGK LMMSHTLKSD AGMYVCVASN 

       250        260        270        280        290        300 
MAGERESAAA EVMVLERPSF LRRPVNQVVL ADAPVTFLCE VKGDPPPRLR WRKEDGELPT 

       310        320        330        340        350        360 
GRYEIRSDHS LWIGHVSAED EGTYTCVAEN SVGRAEASGS LSVHVPPQLV TQPQDQMAAP 

       370        380        390        400        410        420 
GESVAFQCET KGNPPPAIFW QKEGSQVLLF PSQSLQPTGR FSVSPRGQLN ITAVQRGDAG 

       430        440        450        460        470        480 
YYVCQAVSVA GSILAKALLE IKGASLDGLP PVILQGPANQ TLVLGSSVWL PCRVTGNPQP 

       490        500        510        520        530        540 
SVRWKKDGQW LQGDDLQFKT MANGTLYIAN VQEMDMGFYS CVAKSSTGEA TWSGWLKMRE 

       550        560        570        580        590        600 
DWGVSPDPPT EPSSPPGAPS QPVVTEITKN SITLTWKPNP QTGAAVTSYV IEAFSPAAGN 

       610        620        630        640        650        660 
TWRTVADGVQ LETHTVSGLQ PNTIYLFLVR AVGAWGLSEP SPVSEPVRTQ DSSPSRPVED 

       670        680        690        700        710        720 
PWRGQQGLAE VAVRLQEPIV LGPRTLQVSW TVDGPVQLVQ GFRVSWRVAG PEGGSWTMLD 

       730        740        750        760        770        780 
LQSPSQQSTV LRGLPPGTQI QIKVQAQGQE GLGAESLSVT RSIPEEAPSG PPQGVAVALG 

       790        800        810        820        830        840 
GDGNSSITVS WEPPLPSQQN GVITEYQIWC LGNESRFHLN RSAAGWARSA MLRGLVPGLL 

       850        860        870        880        890        900 
YRTLVAAATS AGVGVPSAPV LVQLPSPPDL EPGLEVGAGL AVRLARVLRE PAFLAGSGAA 

       910        920        930        940        950        960 
CGALLLGLCA ALYWRRKQRK ELSHYTASFA YTPAVSFPHS EGLSGASSRP PMGLGPAPYS 

       970        980        990       1000       1010       1020 
WLADSWPHPS RSPSAQEPRG SCCPSNPDPD DRYYNEAGIS LYLAQTARGT AAPGEGPVYS 

      1030       1040       1050       1060       1070       1080 
TIDPAGEELQ TFHGGFPQHP SGDLGPWSQY APPEWSQGDS GAKGGKVKLL GKPVQMPSLN 

      1090       1100       1110       1120       1130       1140 
WPEALPPPPP SCELSCLEGP EEELEGSSEP EEWCPPMPER SHLTEPSSSG GCLVTPSRRE 

      1150       1160       1170       1180       1190       1200 
TPSPTPSYGQ QSTATLTPSP PDPPQPPTDM PHLHQMPRRV PLGPSSPLSV SQPMLGIREA 

      1210       1220       1230       1240       1250       1260 
RPAGLGAGPA ASPHLSPSPA PSTASSAPGR TWQGNGEMTP PLQGPRARFR KKPKALPYRR 

      1270       1280       1290       1300       1310       1320 
ENSPGDLPPP PLPPPEEEAS WALELRAAGS MSSLERERSG ERKAVQAVPL AAQRVLHPDE 

      1330       1340       1350       1360       1370       1380 
EAWLPYSRPS FLSRGQGTST CSTAGSNSSR GSSSSRGSRG PGRSRSRSQS RSQSQRPGQK 


RREEPR 

« Hide

Isoform 2 [UniParc].

Checksum: 95EB31C89F0531E5
Show »

FASTA1,034110,676

References

« Hide 'large scale' references
[1]"Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis."
Jen J.C., Chan W.-M., Bosley T.M., Wan J.-J., Carr J.R., Rueb U., Shattuck D., Salamon G., Kudo L.C., Ou J., Lin D.D.M., Salih M.A.M., Kansu T., Al Dhalaan H., Al-Zayed Z., MacDonald D.B., Stigsby B., Plaitakis A. expand/collapse author list , Dretakis E.K., Gottlob I., Pieh C., Traboulsi E.I., Wang Q., Wang L., Andrews C., Yamada K., Demer J.L., Karim S., Alger J.R., Geschwind D.H., Deller T., Sicotte N.L., Nelson S.F., Baloh R.W., Engle E.C.
Science 304:1509-1513(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANTS HGPPS PRO-5; LEU-66; LYS-319; GLU-361; PRO-703 AND PRO-705.
[2]"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] (ISOFORM 2), VARIANTS MET-423 AND LEU-868.
[3]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1263, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY509035 mRNA. Translation: AAS91662.1.
AK056544 mRNA. Translation: BAB71212.1.
RefSeqNP_071765.2. NM_022370.3.
UniGeneHs.435621.

3D structure databases

ProteinModelPortalQ96MS0.
SMRQ96MS0. Positions 10-865.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122111. 4 interactions.
IntActQ96MS0. 1 interaction.
STRING9606.ENSP00000380903.

PTM databases

PhosphoSiteQ96MS0.

Polymorphism databases

DMDM49036492.

Proteomic databases

PaxDbQ96MS0.
PRIDEQ96MS0.

Protocols and materials databases

DNASU64221.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000397801; ENSP00000380903; ENSG00000154134. [Q96MS0-1]
GeneID64221.
KEGGhsa:64221.
UCSCuc001qbc.3. human. [Q96MS0-1]

Organism-specific databases

CTD64221.
GeneCardsGC11P124735.
HGNCHGNC:13433. ROBO3.
HPAHPA011310.
MIM607313. phenotype.
608630. gene.
neXtProtNX_Q96MS0.
Orphanet2744. Horizontal gaze palsy with progressive scoliosis.
PharmGKBPA134896648.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG238978.
HOGENOMHOG000010267.
HOVERGENHBG073476.
InParanoidQ96MS0.
KOK06755.
OMAYVCQAVS.
TreeFamTF351053.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.

Gene expression databases

ArrayExpressQ96MS0.
BgeeQ96MS0.
CleanExHS_ROBO3.
GenevestigatorQ96MS0.

Family and domain databases

Gene3D2.60.40.10. 9 hits.
InterProIPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003598. Ig_sub2.
[Graphical view]
PfamPF00041. fn3. 3 hits.
PF07679. I-set. 5 hits.
[Graphical view]
SMARTSM00060. FN3. 3 hits.
SM00408. IGc2. 5 hits.
[Graphical view]
SUPFAMSSF49265. SSF49265. 2 hits.
PROSITEPS50853. FN3. 3 hits.
PS50835. IG_LIKE. 5 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSROBO3. human.
GeneWikiROBO3.
GenomeRNAi64221.
NextBio66147.
PROQ96MS0.
SOURCESearch...

Entry information

Entry nameROBO3_HUMAN
AccessionPrimary (citable) accession number: Q96MS0
Entry history
Integrated into UniProtKB/Swiss-Prot: June 21, 2004
Last sequence update: June 21, 2004
Last modified: March 19, 2014
This is version 106 of the entry and version 2 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM