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Q5VV43

- K0319_HUMAN

UniProt

Q5VV43 - K0319_HUMAN

Protein

Dyslexia-associated protein KIAA0319

Gene

KIAA0319

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 1 (07 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.1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    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
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:21580. KIAA0319.

    Subcellular locationi

    Cell membrane; Single-pass type I membrane protein. Early endosome membrane; Single-pass type I membrane protein
    Note: Low-abundance isoforms lacking the transmembrane domain have been described; these are secreted.

    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

    Pathology & Biotechi

    Involvement in diseasei

    Dyslexia 2 (DYX2) [MIM:600202]: A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi995 – 9951Y → A: Loss of interaction with AP2M1 and impaired endocytosis. 1 Publication

    Organism-specific databases

    MIMi600202. phenotype.
    PharmGKBiPA134936721.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2020Sequence AnalysisAdd
    BLAST
    Chaini21 – 10721052Dyslexia-associated protein KIAA0319PRO_0000042946Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi196 – 1961N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi219 – 2191N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi262 – 2621N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi394 – 3941N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi421 – 4211N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi498 – 4981N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi513 – 5131N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi536 – 5361N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi551 – 5511N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi733 – 7331N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    N-glycosylated.1 Publication
    O-glycosylated.1 Publication
    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.1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ5VV43.
    PaxDbiQ5VV43.
    PRIDEiQ5VV43.

    PTM databases

    PhosphoSiteiQ5VV43.

    Expressioni

    Tissue specificityi

    Detected in adult brain cortex and fetal frontal lobe (at protein level). Highly expressed in brain cortex, putamen, amygdala, hippocampus and cerebellum.2 Publications

    Developmental stagei

    Expressed in the developing cerebral neocortex and glanglionic eminence in 57 days post-fertilization fetal brain.1 Publication

    Gene expression databases

    BgeeiQ5VV43.
    CleanExiHS_KIAA0319.
    GenevestigatoriQ5VV43.

    Organism-specific databases

    HPAiHPA015607.

    Interactioni

    Subunit structurei

    Homodimer. Interacts with AP2M1; required for clathrin-mediated endocytosis.2 Publications

    Protein-protein interaction databases

    BioGridi115190. 2 interactions.
    IntActiQ5VV43. 3 interactions.
    STRINGi9606.ENSP00000367459.

    Structurei

    Secondary structure

    1
    1072
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi336 – 3383
    Beta strandi343 – 3464
    Beta strandi352 – 3554
    Beta strandi357 – 3604
    Beta strandi374 – 3763
    Beta strandi389 – 3957
    Beta strandi400 – 4056
    Beta strandi408 – 4114
    Beta strandi414 – 4174
    Beta strandi420 – 4256

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2E7MNMR-A329-428[»]
    ProteinModelPortaliQ5VV43.
    SMRiQ5VV43. Positions 324-428, 443-521, 531-621, 627-811.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ5VV43.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini21 – 955935ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini977 – 107296CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei956 – 97621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini21 – 9979MANSCPROSITE-ProRule annotationAdd
    BLAST
    Domaini341 – 42787PKD 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini435 – 52490PKD 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini530 – 62091PKD 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini621 – 71494PKD 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini720 – 81192PKD 5PROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi995 – 9984Endocytosis 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.
    HOGENOMiHOG000043880.
    HOVERGENiHBG057130.
    InParanoidiQ5VV43.
    OMAiNYEWSLI.
    OrthoDBiEOG79PJNJ.
    PhylomeDBiQ5VV43.
    TreeFamiTF323356.

    Family and domain databases

    Gene3Di2.60.40.670. 3 hits.
    InterProiIPR003961. Fibronectin_type3.
    IPR013980. MANSC.
    IPR011106. MANSC_N.
    IPR022409. PKD/Chitinase_dom.
    IPR002859. PKD/REJ-like.
    IPR000601. PKD_dom.
    [Graphical view]
    PfamiPF02010. REJ. 1 hit.
    [Graphical view]
    SMARTiSM00060. FN3. 4 hits.
    SM00765. MANEC. 1 hit.
    SM00089. PKD. 5 hits.
    [Graphical view]
    SUPFAMiSSF49299. SSF49299. 4 hits.
    PROSITEiPS50986. MANSC. 1 hit.
    PS50093. PKD. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

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

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform 1 (identifier: Q5VV43-1) [UniParc]FASTAAdd to Basket

    Also known as: A

    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

    MAPPTGVLSS LLLLVTIAGC ARKQCSEGRT YSNAVISPNL ETTRIMRVSH     50
    TFPVVDCTAA CCDLSSCDLA WWFEGRCYLV SCPHKENCEP KKMGPIRSYL 100
    TFVLRPVQRP AQLLDYGDMM LNRGSPSGIW GDSPEDIRKD LTFLGKDWGL 150
    EEMSEYSDDY RELEKDLLQP SGKQEPRGSA EYTDWGLLPG SEGAFNSSVG 200
    DSPAVPAETQ QDPELHYLNE SASTPAPKLP ERSVLLPLPT TPSSGEVLEK 250
    EKASQLQEQS SNSSGKEVLM PSHSLPPASL ELSSVTVEKS PVLTVTPGST 300
    EHSIPTPPTS AAPSESTPSE LPISPTTAPR TVKELTVSAG DNLIITLPDN 350
    EVELKAFVAP APPVETTYNY EWNLISHPTD YQGEIKQGHK QTLNLSQLSV 400
    GLYVFKVTVS SENAFGEGFV NVTVKPARRV NLPPVAVVSP QLQELTLPLT 450
    SALIDGSQST DDTEIVSYHW EEINGPFIEE KTSVDSPVLR LSNLDPGNYS 500
    FRLTVTDSDG ATNSTTAALI VNNAVDYPPV ANAGPNHTIT LPQNSITLNG 550
    NQSSDDHQIV LYEWSLGPGS EGKHVVMQGV QTPYLHLSAM QEGDYTFQLK 600
    VTDSSRQQST AVVTVIVQPE NNRPPVAVAG PDKELIFPVE SATLDGSSSS 650
    DDHGIVFYHW EHVRGPSAVE MENIDKAIAT VTGLQVGTYH FRLTVKDQQG 700
    LSSTSTLTVA VKKENNSPPR ARAGGRHVLV LPNNSITLDG SRSTDDQRIV 750
    SYLWIRDGQS PAAGDVIDGS DHSVALQLTN LVEGVYTFHL RVTDSQGASD 800
    TDTATVEVQP DPRKSGLVEL TLQVGVGQLT EQRKDTLVRQ LAVLLNVLDS 850
    DIKVQKIRAH SDLSTVIVFY VQSRPPFKVL KAAEVARNLH MRLSKEKADF 900
    LLFKVLRVDT AGCLLKCSGH GHCDPLTKRC ICSHLWMENL IQRYIWDGES 950
    NCEWSIFYVT VLAFTLIVLT GGFTWLCICC CKRQKRTKIR KKTKYTILDN 1000
    MDEQERMELR PKYGIKHRST EHNSSLMVSE SEFDSDQDTI FSREKMERGN 1050
    PKVSMNGSIR NGASFSYCSK DR 1072
    Length:1,072
    Mass (Da):117,763
    Last modified:December 7, 2004 - v1
    Checksum:i94F33B03E7FE8C0F
    GO
    Isoform 2 (identifier: Q5VV43-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-19: MAPPTGVLSSLLLLVTIAG → MTRLGWPSPC

    Show »
    Length:1,063
    Mass (Da):117,057
    Checksum:i144EC867C3FD7CD5
    GO
    Isoform 3 (identifier: Q5VV43-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-45: Missing.

    Show »
    Length:1,027
    Mass (Da):113,047
    Checksum:i27D81BD05C976D80
    GO
    Isoform 4 (identifier: Q5VV43-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         953-1013: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,011
    Mass (Da):110,370
    Checksum:i6B875CD6ED56D253
    GO

    Sequence cautioni

    The sequence BAA20777.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti97 – 971R → S in BAG58068. (PubMed:14702039)Curated
    Sequence conflicti157 – 1571S → A in BAA20777. (PubMed:9205841)Curated
    Sequence conflicti157 – 1571S → A in AAI52461. (PubMed:15489334)Curated
    Sequence conflicti256 – 2561L → H in BAG59087. (PubMed:14702039)Curated
    Sequence conflicti926 – 9261L → I in AAI44629. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti142 – 1421T → P.3 Publications
    Corresponds to variant rs4576240 [ dbSNP | Ensembl ].
    VAR_023837
    Natural varianti311 – 3111A → T May be associated with susceptibility to dyslexia. 3 Publications
    Corresponds to variant rs4504469 [ dbSNP | Ensembl ].
    VAR_023838
    Natural varianti567 – 5671G → S.
    Corresponds to variant rs2744559 [ dbSNP | Ensembl ].
    VAR_049505
    Natural varianti773 – 7731S → G.
    Corresponds to variant rs2744550 [ dbSNP | Ensembl ].
    VAR_049506
    Natural varianti774 – 7741V → A.
    Corresponds to variant rs2817191 [ dbSNP | Ensembl ].
    VAR_049507
    Natural varianti919 – 9191G → A.
    Corresponds to variant rs10946705 [ dbSNP | Ensembl ].
    VAR_034032
    Natural varianti1013 – 10131Y → C.
    Corresponds to variant rs807534 [ dbSNP | Ensembl ].
    VAR_049508

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 4545Missing in isoform 3. 1 PublicationVSP_036234Add
    BLAST
    Alternative sequencei1 – 1919MAPPT…VTIAG → MTRLGWPSPC in isoform 2. 2 PublicationsVSP_036235Add
    BLAST
    Alternative sequencei953 – 101361Missing in isoform 4. CuratedVSP_044971Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB002317 mRNA. Translation: BAA20777.2. Different initiation.
    AK295008 mRNA. Translation: BAG58068.1.
    AK296310 mRNA. Translation: BAG59008.1.
    AK296426 mRNA. Translation: BAG59087.1.
    AL512385, AL031230 Genomic DNA. Translation: CAH71730.1.
    AL031230, AL512385 Genomic DNA. Translation: CAI22601.1.
    BC140821 mRNA. Translation: AAI40822.1.
    BC144628 mRNA. Translation: AAI44629.1.
    BC152460 mRNA. Translation: AAI52461.1.
    CCDSiCCDS34348.1. [Q5VV43-1]
    CCDS54969.1. [Q5VV43-3]
    CCDS54970.1. [Q5VV43-2]
    CCDS54971.1. [Q5VV43-4]
    RefSeqiNP_001161846.1. NM_001168374.1. [Q5VV43-2]
    NP_001161847.1. NM_001168375.1. [Q5VV43-1]
    NP_001161848.1. NM_001168376.1. [Q5VV43-3]
    NP_001161849.1. NM_001168377.1. [Q5VV43-4]
    NP_055624.2. NM_014809.3. [Q5VV43-1]
    UniGeneiHs.26441.

    Genome annotation databases

    EnsembliENST00000378214; ENSP00000367459; ENSG00000137261. [Q5VV43-1]
    ENST00000430948; ENSP00000401086; ENSG00000137261. [Q5VV43-3]
    ENST00000535378; ENSP00000442403; ENSG00000137261. [Q5VV43-2]
    ENST00000537886; ENSP00000439700; ENSG00000137261. [Q5VV43-4]
    ENST00000543707; ENSP00000437656; ENSG00000137261. [Q5VV43-1]
    GeneIDi9856.
    KEGGihsa:9856.
    UCSCiuc003neh.1. human. [Q5VV43-1]
    uc011djq.1. human. [Q5VV43-2]

    Polymorphism databases

    DMDMi74747200.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Protein Spotlight

    The twisted way of things - Issue 125 of January 2011

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB002317 mRNA. Translation: BAA20777.2 . Different initiation.
    AK295008 mRNA. Translation: BAG58068.1 .
    AK296310 mRNA. Translation: BAG59008.1 .
    AK296426 mRNA. Translation: BAG59087.1 .
    AL512385 , AL031230 Genomic DNA. Translation: CAH71730.1 .
    AL031230 , AL512385 Genomic DNA. Translation: CAI22601.1 .
    BC140821 mRNA. Translation: AAI40822.1 .
    BC144628 mRNA. Translation: AAI44629.1 .
    BC152460 mRNA. Translation: AAI52461.1 .
    CCDSi CCDS34348.1. [Q5VV43-1 ]
    CCDS54969.1. [Q5VV43-3 ]
    CCDS54970.1. [Q5VV43-2 ]
    CCDS54971.1. [Q5VV43-4 ]
    RefSeqi NP_001161846.1. NM_001168374.1. [Q5VV43-2 ]
    NP_001161847.1. NM_001168375.1. [Q5VV43-1 ]
    NP_001161848.1. NM_001168376.1. [Q5VV43-3 ]
    NP_001161849.1. NM_001168377.1. [Q5VV43-4 ]
    NP_055624.2. NM_014809.3. [Q5VV43-1 ]
    UniGenei Hs.26441.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2E7M NMR - A 329-428 [» ]
    ProteinModelPortali Q5VV43.
    SMRi Q5VV43. Positions 324-428, 443-521, 531-621, 627-811.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115190. 2 interactions.
    IntActi Q5VV43. 3 interactions.
    STRINGi 9606.ENSP00000367459.

    PTM databases

    PhosphoSitei Q5VV43.

    Polymorphism databases

    DMDMi 74747200.

    Proteomic databases

    MaxQBi Q5VV43.
    PaxDbi Q5VV43.
    PRIDEi Q5VV43.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000378214 ; ENSP00000367459 ; ENSG00000137261 . [Q5VV43-1 ]
    ENST00000430948 ; ENSP00000401086 ; ENSG00000137261 . [Q5VV43-3 ]
    ENST00000535378 ; ENSP00000442403 ; ENSG00000137261 . [Q5VV43-2 ]
    ENST00000537886 ; ENSP00000439700 ; ENSG00000137261 . [Q5VV43-4 ]
    ENST00000543707 ; ENSP00000437656 ; ENSG00000137261 . [Q5VV43-1 ]
    GeneIDi 9856.
    KEGGi hsa:9856.
    UCSCi uc003neh.1. human. [Q5VV43-1 ]
    uc011djq.1. human. [Q5VV43-2 ]

    Organism-specific databases

    CTDi 9856.
    GeneCardsi GC06M024493.
    HGNCi HGNC:21580. KIAA0319.
    HPAi HPA015607.
    MIMi 600202. phenotype.
    609269. gene.
    neXtProti NX_Q5VV43.
    PharmGKBi PA134936721.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG12793.
    HOGENOMi HOG000043880.
    HOVERGENi HBG057130.
    InParanoidi Q5VV43.
    OMAi NYEWSLI.
    OrthoDBi EOG79PJNJ.
    PhylomeDBi Q5VV43.
    TreeFami TF323356.

    Miscellaneous databases

    ChiTaRSi KIAA0319. human.
    EvolutionaryTracei Q5VV43.
    GeneWikii KIAA0319.
    GenomeRNAii 9856.
    NextBioi 37146.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q5VV43.
    CleanExi HS_KIAA0319.
    Genevestigatori Q5VV43.

    Family and domain databases

    Gene3Di 2.60.40.670. 3 hits.
    InterProi IPR003961. Fibronectin_type3.
    IPR013980. MANSC.
    IPR011106. MANSC_N.
    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.
    SM00765. MANEC. 1 hit.
    SM00089. PKD. 5 hits.
    [Graphical view ]
    SUPFAMi SSF49299. SSF49299. 4 hits.
    PROSITEi PS50986. MANSC. 1 hit.
    PS50093. PKD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
      Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PRO-142.
      Tissue: Brain.
    2. Ohara O., Nagase T., Kikuno R., Nomura N.
      Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION.
    3. "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] (ISOFORMS 1; 2 AND 3), VARIANTS PRO-142 AND THR-311.
      Tissue: Brain and Thalamus.
    4. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] (ISOFORMS 1 AND 2), VARIANTS PRO-142 AND THR-311.
      Tissue: Brain.
    6. "A transcription map of the 6p22.3 reading disability locus identifying candidate genes."
      Londin E.R., Meng H., Gruen J.R.
      BMC Genomics 4:25-25(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    7. "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: POSSIBLE INVOLVEMENT IN DYX2, DEVELOPMENTAL STAGE.
    8. "Alternative splicing in the dyslexia-associated gene KIAA0319."
      Velayos-Baeza A., Toma C., da Roza S., Paracchini S., Monaco A.P.
      Mamm. Genome 18:627-634(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
    9. "The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms."
      Velayos-Baeza A., Toma C., Paracchini S., Monaco A.P.
      Hum. Mol. Genet. 17:859-871(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION, SUBUNIT.
    10. "The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway."
      Levecque C., Velayos-Baeza A., Holloway Z.G., Monaco A.P.
      Am. J. Physiol. 297:C160-C168(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF TYR-995, ENDOCYTOSIS SIGNAL, INTERACTION WITH AP2M1.
    11. "The effect of variation in expression of the candidate dyslexia susceptibility gene homolog Kiaa0319 on neuronal migration and dendritic morphology in the rat."
      Peschansky V.J., Burbridge T.J., Volz A.J., Fiondella C., Wissner-Gross Z., Galaburda A.M., Lo Turco J.J., Rosen G.D.
      Cereb. Cortex 20:884-897(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    12. "The dyslexia-associated KIAA0319 protein undergoes proteolytic processing with {gamma}-secretase-independent intramembrane cleavage."
      Velayos-Baeza A., Levecque C., Kobayashi K., Holloway Z.G., Monaco A.P.
      J. Biol. Chem. 285:40148-40162(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEOLYTIC PROCESSING.
    13. "Solution structure of the PKD domain (329-428) from human KIAA0319."
      RIKEN structural genomics initiative (RSGI)
      Submitted (JUL-2007) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 324-428.
    14. "Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia."
      Cope N., Harold D., Hill G., Moskvina V., Stevenson J., Holmans P., Owen M.J., O'Donovan M.C., Williams J.
      Am. J. Hum. Genet. 76:581-591(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT THR-311.

    Entry informationi

    Entry nameiK0319_HUMAN
    AccessioniPrimary (citable) accession number: Q5VV43
    Secondary accession number(s): A7MD37
    , B2RTU7, B4DHA7, B4DK75, B7ZML3, F5H123, Q9UJC8, Q9Y4G7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 22, 2005
    Last sequence update: December 7, 2004
    Last modified: October 1, 2014
    This is version 104 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. Protein Spotlight
      Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3