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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.1 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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini21 – 891871Extracellular Reviewed prediction
Add
BLAST
Transmembranei892 – 91221Helical; Reviewed prediction
Add
BLAST
Topological domaini913 – 1386474Cytoplasmic Reviewed prediction
Add
BLAST

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 – 2020 Reviewed prediction
Add
BLAST
Chaini21 – 13861366Roundabout homolog 3
PRO_0000031038Add
BLAST

Amino acid modifications

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

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

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.
VSP_010650
Alternative sequencei1035 – 1386352Missing in isoform 2.
VSP_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...

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

« 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: September 3, 2014
This is version 111 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

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