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Q96PX8

- SLIK1_HUMAN

UniProt

Q96PX8 - SLIK1_HUMAN

Protein

SLIT and NTRK-like protein 1

Gene

SLITRK1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 2 (29 Mar 2004)
      Previous versions | rss
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    Functioni

    Enhances neuronal dendrite outgrowth.1 Publication

    GO - Biological processi

    1. adult behavior Source: Ensembl
    2. axonogenesis Source: Ensembl
    3. homeostatic process Source: Ensembl
    4. multicellular organism growth Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    SLIT and NTRK-like protein 1
    Alternative name(s):
    Leucine-rich repeat-containing protein 12
    Gene namesi
    Name:SLITRK1
    Synonyms:KIAA1910, LRRC12
    ORF Names:UNQ233/PRO266
    OrganismiHomo sapiens (Human)Imported
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:20297. SLITRK1.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Gilles de la Tourette syndrome (GTS) [MIM:137580]: Neurologic disorder manifested particularly by motor and vocal tics and associated with behavioral abnormalities.1 Publication
    Note: The disease may be caused by mutations affecting the gene represented in this entry.
    Trichotillomania (TTM) [MIM:613229]: A neuropsychiatric disorder characterized by chronic, repetitive, or compulsive hair pulling resulting in noticeable hair loss. Affected individuals may develop physical complications and often have overlapping psychological disorders, such as Gilles de la Tourette syndrome or obsessive-compulsive disorder.1 Publication
    Note: The disease may be caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi137580. phenotype.
    613229. phenotype.
    Orphaneti856. Tourette syndrome.
    PharmGKBiPA134944423.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1717Sequence AnalysisAdd
    BLAST
    Chaini18 – 696679SLIT and NTRK-like protein 1Sequence AnalysisPRO_0000032673Add
    BLAST

    Proteomic databases

    PaxDbiQ96PX8.
    PeptideAtlasiQ96PX8.
    PRIDEiQ96PX8.

    PTM databases

    PhosphoSiteiQ96PX8.

    Expressioni

    Tissue specificityi

    Expressed predominantly in the frontal lobe of the cerebral cortex of the brain. Also expressed in some astrocytic brain tumors such as astrocytomas, oligodendrogliomas, glioblastomas, gangliogliomas and primitive neuroectodermal tumors.1 Publication

    Developmental stagei

    At 20 weeks of gestation, expressed in multiple brain regions, including the developing neo-cortical plate, subplate zone, striatum, globus pallidus, thalamus and subthalamus.1 Publication

    Gene expression databases

    BgeeiQ96PX8.
    CleanExiHS_SLITRK1.
    GenevestigatoriQ96PX8.

    Organism-specific databases

    HPAiHPA012414.

    Interactioni

    Protein-protein interaction databases

    IntActiQ96PX8. 1 interaction.
    MINTiMINT-7997455.
    STRINGi9606.ENSP00000366288.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96PX8.
    SMRiQ96PX8. Positions 29-260, 334-581.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini18 – 622605ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini644 – 69653CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei623 – 64321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini18 – 5740LRRNT 1Add
    BLAST
    Repeati59 – 8022LRR 1Add
    BLAST
    Repeati83 – 10422LRR 2Add
    BLAST
    Repeati106 – 12823LRR 3Add
    BLAST
    Repeati131 – 15222LRR 4Add
    BLAST
    Repeati155 – 17622LRR 5Add
    BLAST
    Repeati178 – 19922LRR 6Add
    BLAST
    Domaini212 – 26352LRRCT 1Add
    BLAST
    Domaini332 – 37342LRRNT 2Add
    BLAST
    Repeati376 – 39722LRR 7Add
    BLAST
    Repeati400 – 42122LRR 8Add
    BLAST
    Repeati424 – 44522LRR 9Add
    BLAST
    Repeati448 – 46922LRR 10Add
    BLAST
    Repeati472 – 49322LRR 11Add
    BLAST
    Repeati495 – 51622LRR 12Add
    BLAST
    Domaini529 – 58052LRRCT 2Add
    BLAST

    Sequence similaritiesi

    Belongs to the SLITRK family.Curated
    Contains 12 LRR (leucine-rich) repeats.Curated
    Contains 2 LRRCT domains.Curated
    Contains 2 LRRNT domains.Curated

    Keywords - Domaini

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

    Phylogenomic databases

    eggNOGiNOG236179.
    HOGENOMiHOG000290667.
    HOVERGENiHBG056407.
    InParanoidiQ96PX8.
    OMAiVICEAPT.
    OrthoDBiEOG7W9RT2.
    PhylomeDBiQ96PX8.
    TreeFamiTF351826.

    Family and domain databases

    InterProiIPR000483. Cys-rich_flank_reg_C.
    IPR001611. Leu-rich_rpt.
    IPR003591. Leu-rich_rpt_typical-subtyp.
    IPR000372. LRR-contain_N.
    [Graphical view]
    PfamiPF00560. LRR_1. 1 hit.
    PF13855. LRR_8. 2 hits.
    [Graphical view]
    SMARTiSM00369. LRR_TYP. 2 hits.
    SM00082. LRRCT. 2 hits.
    SM00013. LRRNT. 1 hit.
    [Graphical view]
    PROSITEiPS51450. LRR. 12 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q96PX8-1 [UniParc]FASTAAdd to Basket

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    MLLWILLLET SLCFAAGNVT GDVCKEKICS CNEIEGDLHV DCEKKGFTSL    50
    QRFTAPTSQF YHLFLHGNSL TRLFPNEFAN FYNAVSLHME NNGLHEIVPG 100
    AFLGLQLVKR LHINNNKIKS FRKQTFLGLD DLEYLQADFN LLRDIDPGAF 150
    QDLNKLEVLI LNDNLISTLP ANVFQYVPIT HLDLRGNRLK TLPYEEVLEQ 200
    IPGIAEILLE DNPWDCTCDL LSLKEWLENI PKNALIGRVV CEAPTRLQGK 250
    DLNETTEQDL CPLKNRVDSS LPAPPAQEET FAPGPLPTPF KTNGQEDHAT 300
    PGSAPNGGTK IPGNWQIKIR PTAAIATGSS RNKPLANSLP CPGGCSCDHI 350
    PGSGLKMNCN NRNVSSLADL KPKLSNVQEL FLRDNKIHSI RKSHFVDYKN 400
    LILLDLGNNN IATVENNTFK NLLDLRWLYM DSNYLDTLSR EKFAGLQNLE 450
    YLNVEYNAIQ LILPGTFNAM PKLRILILNN NLLRSLPVDV FAGVSLSKLS 500
    LHNNYFMYLP VAGVLDQLTS IIQIDLHGNP WECSCTIVPF KQWAERLGSE 550
    VLMSDLKCET PVNFFRKDFM LLSNDEICPQ LYARISPTLT SHSKNSTGLA 600
    ETGTHSNSYL DTSRVSISVL VPGLLLVFVT SAFTVVGMLV FILRNRKRSK 650
    RRDANSSASE INSLQTVCDS SYWHNGPYNA DGAHRVYDCG SHSLSD 696
    Length:696
    Mass (Da):77,735
    Last modified:March 29, 2004 - v2
    Checksum:iE0E9ACEDE0F0ACEC
    GO

    Sequence cautioni

    The sequence BAB67803.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti418 – 4181T → S in AAH51738. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti552 – 5521L → M.
    Corresponds to variant rs7491932 [ dbSNP | Ensembl ].
    VAR_027755

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB067497 mRNA. Translation: BAB67803.1. Different initiation.
    AY358289 mRNA. Translation: AAQ88656.1.
    AL355481 Genomic DNA. Translation: CAC37488.1.
    BC051738 mRNA. Translation: AAH51738.1.
    CCDSiCCDS9464.1.
    RefSeqiNP_001268432.1. NM_001281503.1.
    NP_443142.1. NM_052910.2.
    UniGeneiHs.415478.
    Hs.627477.
    Hs.694617.

    Genome annotation databases

    EnsembliENST00000377084; ENSP00000366288; ENSG00000178235.
    GeneIDi114798.
    KEGGihsa:114798.
    UCSCiuc001vlk.3. human.

    Polymorphism databases

    DMDMi46396997.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB067497 mRNA. Translation: BAB67803.1 . Different initiation.
    AY358289 mRNA. Translation: AAQ88656.1 .
    AL355481 Genomic DNA. Translation: CAC37488.1 .
    BC051738 mRNA. Translation: AAH51738.1 .
    CCDSi CCDS9464.1.
    RefSeqi NP_001268432.1. NM_001281503.1.
    NP_443142.1. NM_052910.2.
    UniGenei Hs.415478.
    Hs.627477.
    Hs.694617.

    3D structure databases

    ProteinModelPortali Q96PX8.
    SMRi Q96PX8. Positions 29-260, 334-581.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q96PX8. 1 interaction.
    MINTi MINT-7997455.
    STRINGi 9606.ENSP00000366288.

    PTM databases

    PhosphoSitei Q96PX8.

    Polymorphism databases

    DMDMi 46396997.

    Proteomic databases

    PaxDbi Q96PX8.
    PeptideAtlasi Q96PX8.
    PRIDEi Q96PX8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000377084 ; ENSP00000366288 ; ENSG00000178235 .
    GeneIDi 114798.
    KEGGi hsa:114798.
    UCSCi uc001vlk.3. human.

    Organism-specific databases

    CTDi 114798.
    GeneCardsi GC13M084451.
    GeneReviewsi SLITRK1.
    HGNCi HGNC:20297. SLITRK1.
    HPAi HPA012414.
    MIMi 137580. phenotype.
    609678. gene.
    613229. phenotype.
    neXtProti NX_Q96PX8.
    Orphaneti 856. Tourette syndrome.
    PharmGKBi PA134944423.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG236179.
    HOGENOMi HOG000290667.
    HOVERGENi HBG056407.
    InParanoidi Q96PX8.
    OMAi VICEAPT.
    OrthoDBi EOG7W9RT2.
    PhylomeDBi Q96PX8.
    TreeFami TF351826.

    Miscellaneous databases

    GeneWikii SLITRK1_(gene).
    GenomeRNAii 114798.
    NextBioi 79234.
    PROi Q96PX8.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q96PX8.
    CleanExi HS_SLITRK1.
    Genevestigatori Q96PX8.

    Family and domain databases

    InterProi IPR000483. Cys-rich_flank_reg_C.
    IPR001611. Leu-rich_rpt.
    IPR003591. Leu-rich_rpt_typical-subtyp.
    IPR000372. LRR-contain_N.
    [Graphical view ]
    Pfami PF00560. LRR_1. 1 hit.
    PF13855. LRR_8. 2 hits.
    [Graphical view ]
    SMARTi SM00369. LRR_TYP. 2 hits.
    SM00082. LRRCT. 2 hits.
    SM00013. LRRNT. 1 hit.
    [Graphical view ]
    PROSITEi PS51450. LRR. 12 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins."
      Nagase T., Kikuno R., Ohara O.
      DNA Res. 8:179-187(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: BrainImported.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Hippocampus.
    5. "Human SLITRK family genes: genomic organization and expression profiling in normal brain and brain tumor tissue."
      Aruga J., Yokota N., Mikoshiba K.
      Gene 315:87-94(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION, TISSUE SPECIFICITY.
      Tissue: Brain1 Publication and Brain tumor1 Publication.
    6. Cited for: FUNCTION, DEVELOPMENTAL STAGE, INVOLVEMENT IN TTM, INVOLVEMENT IN GTS SYNDROME.

    Entry informationi

    Entry nameiSLIK1_HUMAN
    AccessioniPrimary (citable) accession number: Q96PX8
    Secondary accession number(s): Q5U5I6, Q96SF9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 13, 2004
    Last sequence update: March 29, 2004
    Last modified: October 1, 2014
    This is version 119 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 13
      Human chromosome 13: 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