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Q96MS0

- ROBO3_HUMAN

UniProt

Q96MS0 - ROBO3_HUMAN

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Protein

Roundabout homolog 3

Gene

ROBO3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.By similarity1 Publication

GO - Biological processi

  1. axon guidance Source: UniProtKB
  2. axon midline choice point recognition Source: UniProtKB
  3. neuron migration Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Receptor

Keywords - Biological processi

Chemotaxis, Differentiation, Neurogenesis

Enzyme and pathway databases

ReactomeiREACT_19376. Regulation of Commissural axon pathfinding by Slit and Robo.

Names & Taxonomyi

Protein namesi
Recommended name:
Roundabout homolog 3
Alternative name(s):
Roundabout-like protein 3
Gene namesi
Name:ROBO3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:13433. ROBO3.

Subcellular locationi

GO - Cellular componenti

  1. axon Source: Ensembl
  2. integral component of membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]: Patients show a medulla where motor and sensory projections appear uncrossed.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51L → P in HGPPS. 1 Publication
VAR_019119
Natural varianti66 – 661I → L in HGPPS. 1 Publication
VAR_019120
Natural varianti319 – 3191E → K in HGPPS. 1 Publication
VAR_019073
Natural varianti361 – 3611G → E in HGPPS. 1 Publication
VAR_019121
Natural varianti703 – 7031R → P in HGPPS. 1 Publication
VAR_019074
Natural varianti705 – 7051S → P in HGPPS. 1 Publication
VAR_019075

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi607313. phenotype.
Orphaneti2744. Horizontal gaze palsy with progressive scoliosis.
PharmGKBiPA134896648.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020Sequence AnalysisAdd
BLAST
Chaini21 – 13861366Roundabout homolog 3PRO_0000031038Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi25 – 251N-linked (GlcNAc...)Sequence Analysis
Glycosylationi34 – 341N-linked (GlcNAc...)Sequence Analysis
Glycosylationi41 – 411N-linked (GlcNAc...)Sequence Analysis
Glycosylationi53 – 531N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi85 ↔ 143PROSITE-ProRule annotation
Glycosylationi156 – 1561N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi187 ↔ 236PROSITE-ProRule annotation
Disulfide bondi279 ↔ 326PROSITE-ProRule annotation
Disulfide bondi368 ↔ 424PROSITE-ProRule annotation
Glycosylationi410 – 4101N-linked (GlcNAc...)Sequence Analysis
Glycosylationi459 – 4591N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi472 ↔ 521PROSITE-ProRule annotation
Glycosylationi503 – 5031N-linked (GlcNAc...)Sequence Analysis
Glycosylationi784 – 7841N-linked (GlcNAc...)Sequence Analysis
Glycosylationi813 – 8131N-linked (GlcNAc...)Sequence Analysis
Glycosylationi820 – 8201N-linked (GlcNAc...)Sequence Analysis
Modified residuei1263 – 12631Phosphoserine1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ96MS0.
PRIDEiQ96MS0.

PTM databases

PhosphoSiteiQ96MS0.

Expressioni

Gene expression databases

BgeeiQ96MS0.
CleanExiHS_ROBO3.
ExpressionAtlasiQ96MS0. baseline.
GenevestigatoriQ96MS0.

Organism-specific databases

HPAiHPA011310.

Interactioni

Subunit structurei

Probably interacts with SLIT2.By similarity

Protein-protein interaction databases

BioGridi122111. 4 interactions.
IntActiQ96MS0. 1 interaction.
STRINGi9606.ENSP00000380903.

Structurei

3D structure databases

ProteinModelPortaliQ96MS0.
SMRiQ96MS0. Positions 10-655, 665-864.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini21 – 891871ExtracellularSequence AnalysisAdd
BLAST
Topological domaini913 – 1386474CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei892 – 91221HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini64 – 16097Ig-like C2-type 1Add
BLAST
Domaini166 – 25388Ig-like C2-type 2Add
BLAST
Domaini258 – 34285Ig-like C2-type 3Add
BLAST
Domaini347 – 44094Ig-like C2-type 4Add
BLAST
Domaini450 – 53182Ig-like C2-type 5Add
BLAST
Domaini558 – 65295Fibronectin type-III 1PROSITE-ProRule annotationAdd
BLAST
Domaini671 – 76696Fibronectin type-III 2PROSITE-ProRule annotationAdd
BLAST
Domaini771 – 86999Fibronectin type-III 3PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the immunoglobulin superfamily. ROBO family.Curated
Contains 3 fibronectin type-III domains.PROSITE-ProRule annotation

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG238978.
GeneTreeiENSGT00760000118886.
HOGENOMiHOG000010267.
HOVERGENiHBG073476.
InParanoidiQ96MS0.
KOiK06755.
OMAiYVCQAVS.
PhylomeDBiQ96MS0.
TreeFamiTF351053.

Family and domain databases

Gene3Di2.60.40.10. 9 hits.
InterProiIPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003598. Ig_sub2.
[Graphical view]
PfamiPF00041. fn3. 3 hits.
PF07679. I-set. 5 hits.
[Graphical view]
SMARTiSM00060. FN3. 3 hits.
SM00408. IGc2. 5 hits.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 2 hits.
PROSITEiPS50853. FN3. 3 hits.
PS50835. IG_LIKE. 5 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96MS0-1) [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
MLRYLLKTLL QMNLFADSLA GDISNSSELL LGFNSSLAAL NHTLLPPGDP
60 70 80 90 100
SLNGSRVGPE DAMPRIVEQP PDLLVSRGEP ATLPCRAEGR PRPNIEWYKN
110 120 130 140 150
GARVATVRED PRAHRLLLPS GALFFPRIVH GRRARPDEGV YTCVARNYLG
160 170 180 190 200
AAASRNASLE VAVLRDDFRQ SPGNVVVAVG EPAVLECVPP RGHPEPSVSW
210 220 230 240 250
RKDGARLKEE EGRITIRGGK LMMSHTLKSD AGMYVCVASN MAGERESAAA
260 270 280 290 300
EVMVLERPSF LRRPVNQVVL ADAPVTFLCE VKGDPPPRLR WRKEDGELPT
310 320 330 340 350
GRYEIRSDHS LWIGHVSAED EGTYTCVAEN SVGRAEASGS LSVHVPPQLV
360 370 380 390 400
TQPQDQMAAP GESVAFQCET KGNPPPAIFW QKEGSQVLLF PSQSLQPTGR
410 420 430 440 450
FSVSPRGQLN ITAVQRGDAG YYVCQAVSVA GSILAKALLE IKGASLDGLP
460 470 480 490 500
PVILQGPANQ TLVLGSSVWL PCRVTGNPQP SVRWKKDGQW LQGDDLQFKT
510 520 530 540 550
MANGTLYIAN VQEMDMGFYS CVAKSSTGEA TWSGWLKMRE DWGVSPDPPT
560 570 580 590 600
EPSSPPGAPS QPVVTEITKN SITLTWKPNP QTGAAVTSYV IEAFSPAAGN
610 620 630 640 650
TWRTVADGVQ LETHTVSGLQ PNTIYLFLVR AVGAWGLSEP SPVSEPVRTQ
660 670 680 690 700
DSSPSRPVED PWRGQQGLAE VAVRLQEPIV LGPRTLQVSW TVDGPVQLVQ
710 720 730 740 750
GFRVSWRVAG PEGGSWTMLD LQSPSQQSTV LRGLPPGTQI QIKVQAQGQE
760 770 780 790 800
GLGAESLSVT RSIPEEAPSG PPQGVAVALG GDGNSSITVS WEPPLPSQQN
810 820 830 840 850
GVITEYQIWC LGNESRFHLN RSAAGWARSA MLRGLVPGLL YRTLVAAATS
860 870 880 890 900
AGVGVPSAPV LVQLPSPPDL EPGLEVGAGL AVRLARVLRE PAFLAGSGAA
910 920 930 940 950
CGALLLGLCA ALYWRRKQRK ELSHYTASFA YTPAVSFPHS EGLSGASSRP
960 970 980 990 1000
PMGLGPAPYS WLADSWPHPS RSPSAQEPRG SCCPSNPDPD DRYYNEAGIS
1010 1020 1030 1040 1050
LYLAQTARGT AAPGEGPVYS TIDPAGEELQ TFHGGFPQHP SGDLGPWSQY
1060 1070 1080 1090 1100
APPEWSQGDS GAKGGKVKLL GKPVQMPSLN WPEALPPPPP SCELSCLEGP
1110 1120 1130 1140 1150
EEELEGSSEP EEWCPPMPER SHLTEPSSSG GCLVTPSRRE TPSPTPSYGQ
1160 1170 1180 1190 1200
QSTATLTPSP PDPPQPPTDM PHLHQMPRRV PLGPSSPLSV SQPMLGIREA
1210 1220 1230 1240 1250
RPAGLGAGPA ASPHLSPSPA PSTASSAPGR TWQGNGEMTP PLQGPRARFR
1260 1270 1280 1290 1300
KKPKALPYRR ENSPGDLPPP PLPPPEEEAS WALELRAAGS MSSLERERSG
1310 1320 1330 1340 1350
ERKAVQAVPL AAQRVLHPDE EAWLPYSRPS FLSRGQGTST CSTAGSNSSR
1360 1370 1380
GSSSSRGSRG PGRSRSRSQS RSQSQRPGQK RREEPR
Length:1,386
Mass (Da):148,209
Last modified:June 21, 2004 - v2
Checksum:i955A7300A2BDA27F
GO
Isoform 2 (identifier: Q96MS0-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:1,034
Mass (Da):110,676
Checksum:i95EB31C89F0531E5
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51L → P in HGPPS. 1 Publication
VAR_019119
Natural varianti66 – 661I → L in HGPPS. 1 Publication
VAR_019120
Natural varianti319 – 3191E → K in HGPPS. 1 Publication
VAR_019073
Natural varianti361 – 3611G → E in HGPPS. 1 Publication
VAR_019121
Natural varianti416 – 4161R → H.
Corresponds to variant rs3862618 [ dbSNP | Ensembl ].
VAR_053642
Natural varianti423 – 4231V → M.1 Publication
Corresponds to variant rs4935898 [ dbSNP | Ensembl ].
VAR_034474
Natural varianti703 – 7031R → P in HGPPS. 1 Publication
VAR_019074
Natural varianti705 – 7051S → P in HGPPS. 1 Publication
VAR_019075
Natural varianti868 – 8681P → L.1 Publication
Corresponds to variant rs55706177 [ dbSNP | Ensembl ].
VAR_062145
Natural varianti1369 – 13691Q → R.
Corresponds to variant rs35723495 [ dbSNP | Ensembl ].
VAR_034475

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1025 – 103410AGEELQTFHG → LTTPLLILTT in isoform 2. 1 PublicationVSP_010650
Alternative sequencei1035 – 1386352Missing in isoform 2. 1 PublicationVSP_010651Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY509035 mRNA. Translation: AAS91662.1.
AK056544 mRNA. Translation: BAB71212.1.
CCDSiCCDS44755.1. [Q96MS0-1]
RefSeqiNP_071765.2. NM_022370.3. [Q96MS0-1]
UniGeneiHs.435621.

Genome annotation databases

EnsembliENST00000397801; ENSP00000380903; ENSG00000154134. [Q96MS0-1]
GeneIDi64221.
KEGGihsa:64221.
UCSCiuc001qbc.3. human. [Q96MS0-1]

Polymorphism databases

DMDMi49036492.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY509035 mRNA. Translation: AAS91662.1 .
AK056544 mRNA. Translation: BAB71212.1 .
CCDSi CCDS44755.1. [Q96MS0-1 ]
RefSeqi NP_071765.2. NM_022370.3. [Q96MS0-1 ]
UniGenei Hs.435621.

3D structure databases

ProteinModelPortali Q96MS0.
SMRi Q96MS0. Positions 10-655, 665-864.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122111. 4 interactions.
IntActi Q96MS0. 1 interaction.
STRINGi 9606.ENSP00000380903.

PTM databases

PhosphoSitei Q96MS0.

Polymorphism databases

DMDMi 49036492.

Proteomic databases

PaxDbi Q96MS0.
PRIDEi Q96MS0.

Protocols and materials databases

DNASUi 64221.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000397801 ; ENSP00000380903 ; ENSG00000154134 . [Q96MS0-1 ]
GeneIDi 64221.
KEGGi hsa:64221.
UCSCi uc001qbc.3. human. [Q96MS0-1 ]

Organism-specific databases

CTDi 64221.
GeneCardsi GC11P124735.
HGNCi HGNC:13433. ROBO3.
HPAi HPA011310.
MIMi 607313. phenotype.
608630. gene.
neXtProti NX_Q96MS0.
Orphaneti 2744. Horizontal gaze palsy with progressive scoliosis.
PharmGKBi PA134896648.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG238978.
GeneTreei ENSGT00760000118886.
HOGENOMi HOG000010267.
HOVERGENi HBG073476.
InParanoidi Q96MS0.
KOi K06755.
OMAi YVCQAVS.
PhylomeDBi Q96MS0.
TreeFami TF351053.

Enzyme and pathway databases

Reactomei REACT_19376. Regulation of Commissural axon pathfinding by Slit and Robo.

Miscellaneous databases

ChiTaRSi ROBO3. human.
GeneWikii ROBO3.
GenomeRNAii 64221.
NextBioi 66147.
PROi Q96MS0.
SOURCEi Search...

Gene expression databases

Bgeei Q96MS0.
CleanExi HS_ROBO3.
ExpressionAtlasi Q96MS0. baseline.
Genevestigatori Q96MS0.

Family and domain databases

Gene3Di 2.60.40.10. 9 hits.
InterProi IPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003598. Ig_sub2.
[Graphical view ]
Pfami PF00041. fn3. 3 hits.
PF07679. I-set. 5 hits.
[Graphical view ]
SMARTi SM00060. FN3. 3 hits.
SM00408. IGc2. 5 hits.
[Graphical view ]
SUPFAMi SSF49265. SSF49265. 2 hits.
PROSITEi PS50853. FN3. 3 hits.
PS50835. IG_LIKE. 5 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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.

Entry informationi

Entry nameiROBO3_HUMAN
AccessioniPrimary (citable) accession number: Q96MS0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 21, 2004
Last sequence update: June 21, 2004
Last modified: October 29, 2014
This is version 113 of the entry and version 2 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3