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Q5SZV5

- K0319_MOUSE

UniProt

Q5SZV5 - K0319_MOUSE

Protein

Dyslexia-associated protein KIAA0319 homolog

Gene

Kiaa0319

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 75 (01 Oct 2014)
      Sequence version 1 (21 Dec 2004)
      Previous versions | rss
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    Functioni

    Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites By similarity.By similarity

    GO - Biological processi

    1. negative regulation of dendrite development Source: UniProtKB
    2. neuron migration Source: UniProtKB

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Neurogenesis

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Dyslexia-associated protein KIAA0319 homolog
    Gene namesi
    Name:Kiaa0319
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 13

    Organism-specific databases

    MGIiMGI:3036268. D130043K22Rik.

    Subcellular locationi

    GO - Cellular componenti

    1. early endosome Source: UniProtKB
    2. early endosome membrane Source: UniProtKB-SubCell
    3. integral component of membrane Source: UniProtKB-KW
    4. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Endosome, Membrane

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222Sequence AnalysisAdd
    BLAST
    Chaini23 – 10811059Dyslexia-associated protein KIAA0319 homologPRO_0000042947Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi196 – 1961N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi228 – 2281N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi272 – 2721N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi302 – 3021N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi430 – 4301N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi507 – 5071N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi522 – 5221N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi545 – 5451N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi560 – 5601N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi742 – 7421N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    N-glycosylated.By similarity
    O-glycosylated.By similarity
    Shedding of the extracellular domain and intramembrane cleavage produce several proteolytic products. The intramembrane cleavage releases a soluble cytoplasmic polypeptide that translocates to the nucleolus By similarity.By similarity

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ5SZV5.
    PRIDEiQ5SZV5.

    PTM databases

    PhosphoSiteiQ5SZV5.

    Expressioni

    Developmental stagei

    Expressed in the frontal neocortex, glanglionic eminence, mesencephalon and cerebellum at E13.5. More prominently expressed in the developing cerebral neocortex and mesencephalon at E15.5 and in the cortical plate and in the remnant of the ventricular zone at E18.5.1 Publication

    Gene expression databases

    ArrayExpressiQ5SZV5.
    BgeeiQ5SZV5.
    CleanExiMM_D130043K22RIK.
    GenevestigatoriQ5SZV5.

    Interactioni

    Subunit structurei

    Homodimer. Interacts with AP2M1; required for clathrin-mediated endocytosis By similarity.By similarity

    Structurei

    3D structure databases

    ProteinModelPortaliQ5SZV5.
    SMRiQ5SZV5. Positions 336-436, 452-532, 540-630, 636-724.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini23 – 964942ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini986 – 108196CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei965 – 98521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini23 – 9977MANSCPROSITE-ProRule annotationAdd
    BLAST
    Domaini345 – 43692PKD 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini444 – 53390PKD 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini539 – 62991PKD 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini630 – 72394PKD 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini729 – 82092PKD 5PROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi1004 – 10074Endocytosis signal

    Sequence similaritiesi

    Contains 1 MANSC domain.PROSITE-ProRule annotation
    Contains 5 PKD domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG12793.
    GeneTreeiENSGT00740000115558.
    HOGENOMiHOG000043880.
    HOVERGENiHBG057130.
    InParanoidiQ14BF3.
    OMAiNYEWSLI.
    PhylomeDBiQ5SZV5.
    TreeFamiTF323356.

    Family and domain databases

    Gene3Di2.60.40.670. 2 hits.
    InterProiIPR003961. Fibronectin_type3.
    IPR013980. MANSC.
    IPR022409. PKD/Chitinase_dom.
    IPR002859. PKD/REJ-like.
    IPR000601. PKD_dom.
    [Graphical view]
    PfamiPF02010. REJ. 1 hit.
    [Graphical view]
    SMARTiSM00060. FN3. 4 hits.
    SM00089. PKD. 5 hits.
    [Graphical view]
    SUPFAMiSSF49299. SSF49299. 4 hits.
    PROSITEiPS50986. MANSC. 1 hit.
    PS50093. PKD. 2 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q5SZV5-1 [UniParc]FASTAAdd to Basket

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    MVSPPGVLSS LLLLAAMAGG SSQQCSEGRT YSDAIISPNP ETIRIMRVSQ     50
    TFSVGDCTAA CCDLLTCDLA WWFEGSCYLV KCMRSENCEP RTTGPIRSYL 100
    TFVRRPVQRP GQLLDYGDMM LSRGSPSGAW GDSLEDLRKD LPFLGKDGGP 150
    EETTEYSDEY KDLERGLLQP SNQQDPRGSA EYPDWSLLPS NEGGFNATAT 200
    GDNSAASMEK LQDPTPHPLD QEQLQALNES TWSPTPGHSS ISSVWPSSAS 250
    PLPTEEGLEG EETLQLQEQP SNSSGKEVPM PSHNPSPASL ESSPATTEKN 300
    SNFTVTPRSR KHSTPTFPTS TVLTGLTPPP WPLSPTASRT VKALAVSAGD 350
    NLVLTLPDRE AELKASVEPA PPADTTYSYE WSLMSHPVDF QGKIKQENKP 400
    TLHLSQLSVG LYAFRVAVSS ENAFGEGYVN VTVMPAARVN QPPVAVVSPQ 450
    TQELSVPLTS ALIDGSQSTD DTEIVSYHWE EVDGPFLGEE FPADTPILRL 500
    SNLVPGNYTF RLTITDSDGA TNSTTASLVI RDAVDYPPVA NAGPNQTITL 550
    PQNTIILNGN QSSDDHQIVL YEWFAGPGGE SKEMVMQGAQ TPYLHLSELQ 600
    EGEYTFQLMV TDSSGQQSTA LVAVTVQAEN NQAPVAVAGP DKELVFPVQS 650
    ATLDGSRSSD DHGIVCYHWE HIRGPSAVEM ENVDKAIATV TGLQVGIYHF 700
    RLTVRDQQGL SSTSTLTVAV KKENNSPPRA QAGGRHVLIL PNNSITLDGS 750
    RSTDDRGIVS YLWIRDGQSP AAGDVIGGSD HRAALQLTNL VEGVYTFHLL 800
    VTDSQGASDS DAATVEVLPD PKKDGLVELI LQVGVEQLTE QQKETLVRQL 850
    AVLLNVLDSD VKVLKIQAHT DVSTVIVFYV QSGSPFKVLR AAAVARNLHK 900
    RLSKEKEAFL LFKVLRVDTA GCLLKCSGHG HCDPITKRCI CSQLWMENLI 950
    QRYMWDGESN CEWSVFYVAA LALTLTLLTG AVSWLCICCC RRRKRTKIRK 1000
    KTKYTILDSM DEQERMELRP KYGIKHRSTE HNSSLMVSES EFESDQDTLF 1050
    SRERMERGVL KGSLNGCARN GVSFGYYSKD R 1081
    Length:1,081
    Mass (Da):117,988
    Last modified:December 21, 2004 - v1
    Checksum:iC142C9746D9AF4DA
    GO

    Sequence cautioni

    The sequence BAC65528.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK122246 mRNA. Translation: BAC65528.1. Different initiation.
    AL589699 Genomic DNA. Translation: CAI26085.1.
    BC115723 mRNA. Translation: AAI15724.1.
    BC115940 mRNA. Translation: AAI15941.1.
    CCDSiCCDS36624.1.
    RefSeqiNP_001074520.1. NM_001081051.1.
    UniGeneiMm.261514.

    Genome annotation databases

    EnsembliENSMUST00000006893; ENSMUSP00000006893; ENSMUSG00000006711.
    GeneIDi210108.
    KEGGimmu:210108.
    UCSCiuc007pwn.1. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK122246 mRNA. Translation: BAC65528.1 . Different initiation.
    AL589699 Genomic DNA. Translation: CAI26085.1 .
    BC115723 mRNA. Translation: AAI15724.1 .
    BC115940 mRNA. Translation: AAI15941.1 .
    CCDSi CCDS36624.1.
    RefSeqi NP_001074520.1. NM_001081051.1.
    UniGenei Mm.261514.

    3D structure databases

    ProteinModelPortali Q5SZV5.
    SMRi Q5SZV5. Positions 336-436, 452-532, 540-630, 636-724.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q5SZV5.

    Proteomic databases

    PaxDbi Q5SZV5.
    PRIDEi Q5SZV5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000006893 ; ENSMUSP00000006893 ; ENSMUSG00000006711 .
    GeneIDi 210108.
    KEGGi mmu:210108.
    UCSCi uc007pwn.1. mouse.

    Organism-specific databases

    MGIi MGI:3036268. D130043K22Rik.
    Rougei Search...

    Phylogenomic databases

    eggNOGi NOG12793.
    GeneTreei ENSGT00740000115558.
    HOGENOMi HOG000043880.
    HOVERGENi HBG057130.
    InParanoidi Q14BF3.
    OMAi NYEWSLI.
    PhylomeDBi Q5SZV5.
    TreeFami TF323356.

    Miscellaneous databases

    NextBioi 372870.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q5SZV5.
    Bgeei Q5SZV5.
    CleanExi MM_D130043K22RIK.
    Genevestigatori Q5SZV5.

    Family and domain databases

    Gene3Di 2.60.40.670. 2 hits.
    InterProi IPR003961. Fibronectin_type3.
    IPR013980. MANSC.
    IPR022409. PKD/Chitinase_dom.
    IPR002859. PKD/REJ-like.
    IPR000601. PKD_dom.
    [Graphical view ]
    Pfami PF02010. REJ. 1 hit.
    [Graphical view ]
    SMARTi SM00060. FN3. 4 hits.
    SM00089. PKD. 5 hits.
    [Graphical view ]
    SUPFAMi SSF49299. SSF49299. 4 hits.
    PROSITEi PS50986. MANSC. 1 hit.
    PS50093. PKD. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries."
      Okazaki N., Kikuno R., Ohara R., Inamoto S., Aizawa H., Yuasa S., Nakajima D., Nagase T., Ohara O., Koga H.
      DNA Res. 10:35-48(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Strain: C57BL/6J.
    3. "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].
    4. "The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration."
      Paracchini S., Thomas A., Castro S., Lai C., Paramasivam M., Wang Y., Keating B.J., Taylor J.M., Hacking D.F., Scerri T., Francks C., Richardson A.J., Wade-Martins R., Stein J.F., Knight J.C., Copp A.J., Loturco J., Monaco A.P.
      Hum. Mol. Genet. 15:1659-1666(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: DEVELOPMENTAL STAGE.

    Entry informationi

    Entry nameiK0319_MOUSE
    AccessioniPrimary (citable) accession number: Q5SZV5
    Secondary accession number(s): Q14BF3, Q80U39
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 22, 2005
    Last sequence update: December 21, 2004
    Last modified: October 1, 2014
    This is version 75 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3