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Q6UXK2

- ISLR2_HUMAN

UniProt

Q6UXK2 - ISLR2_HUMAN

Protein

Immunoglobulin superfamily containing leucine-rich repeat protein 2

Gene

ISLR2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 97 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    Required for axon extension during neural development.By similarity

    GO - Biological processi

    1. positive regulation of axon extension Source: UniProtKB

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Neurogenesis

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Immunoglobulin superfamily containing leucine-rich repeat protein 2
    Alternative name(s):
    Leucine-rich repeat domain and immunoglobulin domain-containing axon extension protein
    Gene namesi
    Name:ISLR2
    Synonyms:KIAA1465, LINX
    ORF Names:UNQ1885/PRO4329
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:29286. ISLR2.

    Subcellular locationi

    Cell membrane By similarity; Single-pass membrane protein By similarity

    GO - Cellular componenti

    1. cell surface Source: UniProtKB
    2. integral component of membrane Source: UniProtKB-KW
    3. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA143485505.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1818Sequence AnalysisAdd
    BLAST
    Chaini19 – 745727Immunoglobulin superfamily containing leucine-rich repeat protein 2PRO_0000317498Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi52 – 521N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi121 – 1211N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi260 ↔ 355PROSITE-ProRule annotation
    Glycosylationi337 – 3371N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi364 – 3641N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi474 – 4741N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi563 – 5631N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ6UXK2.
    PRIDEiQ6UXK2.

    PTM databases

    PhosphoSiteiQ6UXK2.

    Expressioni

    Gene expression databases

    ArrayExpressiQ6UXK2.
    BgeeiQ6UXK2.
    CleanExiHS_ISLR2.
    GenevestigatoriQ6UXK2.

    Interactioni

    Subunit structurei

    Homomultimer. Interacts with NTRK1/TrkA By similarity.By similarity

    Protein-protein interaction databases

    IntActiQ6UXK2. 1 interaction.
    MINTiMINT-6598539.
    STRINGi9606.ENSP00000354217.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6UXK2.
    SMRiQ6UXK2. Positions 20-372.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini19 – 589571ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini611 – 745135CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei590 – 61021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini19 – 5133LRRNTAdd
    BLAST
    Repeati52 – 7322LRR 1Add
    BLAST
    Repeati76 – 9722LRR 2Add
    BLAST
    Repeati100 – 12324LRR 3Add
    BLAST
    Repeati124 – 14522LRR 4Add
    BLAST
    Repeati148 – 16922LRR 5Add
    BLAST
    Domaini181 – 23252LRRCTAdd
    BLAST
    Domaini233 – 371139Ig-likeAdd
    BLAST

    Sequence similaritiesi

    Contains 5 LRR (leucine-rich) repeats.Curated
    Contains 1 LRRCT domain.Curated
    Contains 1 LRRNT domain.Curated

    Keywords - Domaini

    Immunoglobulin domain, Leucine-rich repeat, Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG240332.
    HOGENOMiHOG000113108.
    HOVERGENiHBG100863.
    InParanoidiQ6UXK2.
    OMAiPRLQWQL.
    OrthoDBiEOG71K62H.
    PhylomeDBiQ6UXK2.
    TreeFamiTF351112.

    Family and domain databases

    Gene3Di2.60.40.10. 2 hits.
    InterProiIPR000483. Cys-rich_flank_reg_C.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR003599. Ig_sub.
    IPR001611. Leu-rich_rpt.
    IPR003591. Leu-rich_rpt_typical-subtyp.
    IPR000372. LRR-contain_N.
    [Graphical view]
    PfamiPF13855. LRR_8. 2 hits.
    [Graphical view]
    SMARTiSM00409. IG. 1 hit.
    SM00369. LRR_TYP. 1 hit.
    SM00082. LRRCT. 1 hit.
    SM00013. LRRNT. 1 hit.
    [Graphical view]
    PROSITEiPS50835. IG_LIKE. 1 hit.
    PS51450. LRR. 6 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q6UXK2-1 [UniParc]FASTAAdd to Basket

    « Hide

    MFPLRALWLV WALLGVAGSC PEPCACVDKY AHQFADCAYK ELREVPEGLP    50
    ANVTTLSLSA NKITVLRRGA FADVTQVTSL WLAHNEVRTV EPGALAVLSQ 100
    LKNLDLSHNF ISSFPWSDLR NLSALQLLKM NHNRLGSLPR DALGALPDLR 150
    SLRINNNRLR TLAPGTFDAL SALSHLQLYH NPFHCGCGLV WLQAWAASTR 200
    VSLPEPDSIA CASPPALQGV PVYRLPALPC APPSVHLSAE PPLEAPGTPL 250
    RAGLAFVLHC IADGHPTPRL QWQLQIPGGT VVLEPPVLSG EDDGVGAEEG 300
    EGEGDGDLLT QTQAQTPTPA PAWPAPPATP RFLALANGSL LVPLLSAKEA 350
    GVYTCRAHNE LGANSTSIRV AVAATGPPKH APGAGGEPDG QAPTSERKST 400
    AKGRGNSVLP SKPEGKIKGQ GLAKVSILGE TETEPEEDTS EGEEAEDQIL 450
    ADPAEEQRCG NGDPSRYVSN HAFNQSAELK PHVFELGVIA LDVAEREARV 500
    QLTPLAARWG PGPGGAGGAP RPGRRPLRLL YLCPAGGGAA VQWSRVEEGV 550
    NAYWFRGLRP GTNYSVCLAL AGEACHVQVV FSTKKELPSL LVIVAVSVFL 600
    LVLATVPLLG AACCHLLAKH PGKPYRLILR PQAPDPMEKR IAADFDPRAS 650
    YLESEKSYPA GGEAGGEEPE DVQGEGLDED AEQGDPSGDL QREESLAACS 700
    LVESQSKANQ EEFEAGSEYS DRLPLGAEAV NIAQEINGNY RQTAG 745
    Length:745
    Mass (Da):78,990
    Last modified:July 5, 2004 - v1
    Checksum:i7188FC3003EC2B7E
    GO

    Sequence cautioni

    The sequence BAA95989.2 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti19 – 191S → P in BAF83156. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti137 – 1371S → F.
    Corresponds to variant rs3889598 [ dbSNP | Ensembl ].
    VAR_049881

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB040898 mRNA. Translation: BAA95989.2. Different initiation.
    AY358316 mRNA. Translation: AAQ88682.1.
    AK290467 mRNA. Translation: BAF83156.1.
    CCDSiCCDS10259.1.
    RefSeqiNP_001123608.1. NM_001130136.1.
    NP_001123609.1. NM_001130137.1.
    NP_001123610.1. NM_001130138.1.
    NP_065902.1. NM_020851.2.
    UniGeneiHs.254775.

    Genome annotation databases

    EnsembliENST00000361742; ENSP00000355402; ENSG00000167178.
    ENST00000419208; ENSP00000408872; ENSG00000167178.
    ENST00000435464; ENSP00000411443; ENSG00000167178.
    ENST00000453268; ENSP00000411834; ENSG00000167178.
    ENST00000565159; ENSP00000455531; ENSG00000167178.
    ENST00000565540; ENSP00000458080; ENSG00000167178.
    GeneIDi57611.
    KEGGihsa:57611.
    UCSCiuc002axd.3. human.

    Polymorphism databases

    DMDMi74758577.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB040898 mRNA. Translation: BAA95989.2 . Different initiation.
    AY358316 mRNA. Translation: AAQ88682.1 .
    AK290467 mRNA. Translation: BAF83156.1 .
    CCDSi CCDS10259.1.
    RefSeqi NP_001123608.1. NM_001130136.1.
    NP_001123609.1. NM_001130137.1.
    NP_001123610.1. NM_001130138.1.
    NP_065902.1. NM_020851.2.
    UniGenei Hs.254775.

    3D structure databases

    ProteinModelPortali Q6UXK2.
    SMRi Q6UXK2. Positions 20-372.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q6UXK2. 1 interaction.
    MINTi MINT-6598539.
    STRINGi 9606.ENSP00000354217.

    PTM databases

    PhosphoSitei Q6UXK2.

    Polymorphism databases

    DMDMi 74758577.

    Proteomic databases

    PaxDbi Q6UXK2.
    PRIDEi Q6UXK2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000361742 ; ENSP00000355402 ; ENSG00000167178 .
    ENST00000419208 ; ENSP00000408872 ; ENSG00000167178 .
    ENST00000435464 ; ENSP00000411443 ; ENSG00000167178 .
    ENST00000453268 ; ENSP00000411834 ; ENSG00000167178 .
    ENST00000565159 ; ENSP00000455531 ; ENSG00000167178 .
    ENST00000565540 ; ENSP00000458080 ; ENSG00000167178 .
    GeneIDi 57611.
    KEGGi hsa:57611.
    UCSCi uc002axd.3. human.

    Organism-specific databases

    CTDi 57611.
    GeneCardsi GC15P074392.
    HGNCi HGNC:29286. ISLR2.
    MIMi 614179. gene.
    neXtProti NX_Q6UXK2.
    PharmGKBi PA143485505.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG240332.
    HOGENOMi HOG000113108.
    HOVERGENi HBG100863.
    InParanoidi Q6UXK2.
    OMAi PRLQWQL.
    OrthoDBi EOG71K62H.
    PhylomeDBi Q6UXK2.
    TreeFami TF351112.

    Miscellaneous databases

    GenomeRNAii 57611.
    NextBioi 64263.
    PROi Q6UXK2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q6UXK2.
    Bgeei Q6UXK2.
    CleanExi HS_ISLR2.
    Genevestigatori Q6UXK2.

    Family and domain databases

    Gene3Di 2.60.40.10. 2 hits.
    InterProi IPR000483. Cys-rich_flank_reg_C.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR003599. Ig_sub.
    IPR001611. Leu-rich_rpt.
    IPR003591. Leu-rich_rpt_typical-subtyp.
    IPR000372. LRR-contain_N.
    [Graphical view ]
    Pfami PF13855. LRR_8. 2 hits.
    [Graphical view ]
    SMARTi SM00409. IG. 1 hit.
    SM00369. LRR_TYP. 1 hit.
    SM00082. LRRCT. 1 hit.
    SM00013. LRRNT. 1 hit.
    [Graphical view ]
    PROSITEi PS50835. IG_LIKE. 1 hit.
    PS51450. LRR. 6 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
      DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    2. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. "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].
      Tissue: Brain.

    Entry informationi

    Entry nameiISLR2_HUMAN
    AccessioniPrimary (citable) accession number: Q6UXK2
    Secondary accession number(s): A8K352, Q9P263
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 5, 2008
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 97 of the entry and version 1 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 15
      Human chromosome 15: 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