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Q96MS0

- ROBO3_HUMAN

UniProt

Q96MS0 - ROBO3_HUMAN

Protein

Roundabout homolog 3

Gene

ROBO3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 2 (21 Jun 2004)
      Previous versions | rss
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    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

    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

    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

    ArrayExpressiQ96MS0.
    BgeeiQ96MS0.
    CleanExiHS_ROBO3.
    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 60-655, 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.
    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

    MLRYLLKTLL QMNLFADSLA GDISNSSELL LGFNSSLAAL NHTLLPPGDP     50
    SLNGSRVGPE DAMPRIVEQP PDLLVSRGEP ATLPCRAEGR PRPNIEWYKN 100
    GARVATVRED PRAHRLLLPS GALFFPRIVH GRRARPDEGV YTCVARNYLG 150
    AAASRNASLE VAVLRDDFRQ SPGNVVVAVG EPAVLECVPP RGHPEPSVSW 200
    RKDGARLKEE EGRITIRGGK LMMSHTLKSD AGMYVCVASN MAGERESAAA 250
    EVMVLERPSF LRRPVNQVVL ADAPVTFLCE VKGDPPPRLR WRKEDGELPT 300
    GRYEIRSDHS LWIGHVSAED EGTYTCVAEN SVGRAEASGS LSVHVPPQLV 350
    TQPQDQMAAP GESVAFQCET KGNPPPAIFW QKEGSQVLLF PSQSLQPTGR 400
    FSVSPRGQLN ITAVQRGDAG YYVCQAVSVA GSILAKALLE IKGASLDGLP 450
    PVILQGPANQ TLVLGSSVWL PCRVTGNPQP SVRWKKDGQW LQGDDLQFKT 500
    MANGTLYIAN VQEMDMGFYS CVAKSSTGEA TWSGWLKMRE DWGVSPDPPT 550
    EPSSPPGAPS QPVVTEITKN SITLTWKPNP QTGAAVTSYV IEAFSPAAGN 600
    TWRTVADGVQ LETHTVSGLQ PNTIYLFLVR AVGAWGLSEP SPVSEPVRTQ 650
    DSSPSRPVED PWRGQQGLAE VAVRLQEPIV LGPRTLQVSW TVDGPVQLVQ 700
    GFRVSWRVAG PEGGSWTMLD LQSPSQQSTV LRGLPPGTQI QIKVQAQGQE 750
    GLGAESLSVT RSIPEEAPSG PPQGVAVALG GDGNSSITVS WEPPLPSQQN 800
    GVITEYQIWC LGNESRFHLN RSAAGWARSA MLRGLVPGLL YRTLVAAATS 850
    AGVGVPSAPV LVQLPSPPDL EPGLEVGAGL AVRLARVLRE PAFLAGSGAA 900
    CGALLLGLCA ALYWRRKQRK ELSHYTASFA YTPAVSFPHS EGLSGASSRP 950
    PMGLGPAPYS WLADSWPHPS RSPSAQEPRG SCCPSNPDPD DRYYNEAGIS 1000
    LYLAQTARGT AAPGEGPVYS TIDPAGEELQ TFHGGFPQHP SGDLGPWSQY 1050
    APPEWSQGDS GAKGGKVKLL GKPVQMPSLN WPEALPPPPP SCELSCLEGP 1100
    EEELEGSSEP EEWCPPMPER SHLTEPSSSG GCLVTPSRRE TPSPTPSYGQ 1150
    QSTATLTPSP PDPPQPPTDM PHLHQMPRRV PLGPSSPLSV SQPMLGIREA 1200
    RPAGLGAGPA ASPHLSPSPA PSTASSAPGR TWQGNGEMTP PLQGPRARFR 1250
    KKPKALPYRR ENSPGDLPPP PLPPPEEEAS WALELRAAGS MSSLERERSG 1300
    ERKAVQAVPL AAQRVLHPDE EAWLPYSRPS FLSRGQGTST CSTAGSNSSR 1350
    GSSSSRGSRG PGRSRSRSQS RSQSQRPGQK RREEPR 1386
    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 60-655, 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.
    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

    ArrayExpressi Q96MS0.
    Bgeei Q96MS0.
    CleanExi HS_ROBO3.
    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

    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 1, 2014
    This is version 112 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