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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KIAA0319L Gene

protein-coding   GIFtS: 49
GCID: GC01M035899

KIAA0319-like

 Explore 4 diseases affiliated with
KIAA0319L via our new
 Human Malady Compendium 
Biological research products
for KIAA0319L
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
KIAA0319-Like1
KIAA18371 3
Dyslexia-Associated Protein KIAA0319-Like Protein2
Polycystic Kidney Disease 1-Related2

External Ids:    HGNC: 300711   Entrez Gene: 799322   Ensembl: ENSG000001426877   OMIM: 6135355   UniProtKB: Q8IZA03   

Export aliases for KIAA0319L gene to outside databases

Previous GC identifers: GC01M035569 GC01M035671 GC01M034017


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KIAA0319L:
This gene is a candidate gene for dyslexia susceptibility.(provided by RefSeq, Apr 2009)

UniProtKB/Swiss-Prot: K319L_HUMAN, Q8IZA0
Function: Possible role in axon guidance through interaction with RTN4R




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA0319L gene promoter:
         GR   Brachyury   GR-beta   CUTL1   MIF-1   E4BP4   GATA-2   HEN1   Ik-2   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKIAA0319L promoter sequence
   Search SABiosciences Chromatin IP Primers for KIAA0319L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA0319L


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34.2   Ensembl cytogenetic band:  1p34.3   HGNC cytogenetic band: 1p34.3

KIAA0319L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA0319L gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M035899:  view genomic region     (about GC identifiers)

Start:
35,899,091 bp from pter      End:
36,023,551 bp from pter
Size:
124,461 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: K319L_HUMAN, Q8IZA0 (See protein sequence)
Recommended Name: Dyslexia-associated protein KIAA0319-like protein  
Size: 1049 amino acids; 115658 Da
Subunit: Interacts with RTN4R
Subcellular location: Cytoplasmic granule membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=AAD05028.1; Type=Erroneous gene model prediction; Sequence=AAL55781.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=BAB14874.1; Type=Erroneous initiation; Note=Translation
N-terminally extended; Sequence=BAB47466.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of
unknown origin in the N-terminal part; Sequence=CAI22688.1; Type=Erroneous gene model prediction; Sequence=CAI23123.1;
Type=Erroneous gene model prediction;
1 PDB 3D structure from and Proteopedia for KIAA0319L:
2YRL (3D)    
Secondary accessions: B1AN13 D3DPR8 O95010 Q6PJJ7 Q7L1C9 Q8N2B3 Q8NDA0 Q8WY39 Q8WYZ5 Q96IC3 Q96JJ0
Q9BUW6 Q9H7V0
Alternative splicing: 3 isoforms:  Q8IZA0-1   Q8IZA0-2   Q8IZA0-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIAA0319L: NX_Q8IZA0

Post-translational modifications:

  • N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IZA0

  • KIAA0319L Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_079150.3  
    ENSEMBL proteins: 
     ENSP00000318406   ENSP00000362363   ENSP00000395883   ENSP00000407576   ENSP00000393862  
     ENSP00000420742   ENSP00000420369   ENSP00000417411   ENSP00000419396   ENSP00000420226  
     ENSP00000362355  

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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--
    GO:0044433cytoplasmic vesicle part IDA--


    KIAA0319L for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    KIAA0319L for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR002859 PKD/REJ-like
     IPR000601 PKD_dom
     IPR003961 Fibronectin_type3
     IPR013980 MANSC
     IPR022409 PKD/Chitinase_dom

    Graphical View of Domain Structure for InterPro Entry Q8IZA0

    ProtoNet protein and cluster: Q8IZA0

    1 Blocks protein family: IPB000601 PKD

    UniProtKB/Swiss-Prot: K319L_HUMAN, Q8IZA0
    Similarity: Contains 1 MANSC domain
    Similarity: Contains 5 PKD domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: K319L_HUMAN, Q8IZA0
    Function: Possible role in axon guidance through interaction with RTN4R

    miRNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--


    KIAA0319L for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for KIAA0319L:
     Decreased viability with pacli  Increased gamma-H2AX phosphory 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KIAA0319L

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for KIAA0319L (Q8IZA01 ENSP000003184064) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RTN4RQ9BZR61, ENSP000000434024EBI-5240269,EBI-5240240 STRING: ENSP00000043402
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KIAA0319L
    Search CenterWatch for drugs/clinical trials and news about KIAA0319L / K319L 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KIAA0319L gene (2 alternative transcripts): 
    NM_024874.4  NM_182686.1  

    Unigene Clusters for KIAA0319L:

    KIAA0319-like
    Hs.456507  [show with all ESTs], Hs.683078  [show with all ESTs]
    Unigene Representative Sequences: NM_024874, AK097107
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000325722(uc001byw.3 uc001byx.3) ENST00000373266 ENST00000426982
    ENST00000461312 ENST00000485551(uc010ohv.1) ENST00000473423 ENST00000473844
    ENST00000474856 ENST00000492544 ENST00000440579 ENST00000467109 ENST00000431916
    ENST00000482929(uc010ohw.2) ENST00000478463(uc010ohx.1) ENST00000470388
    ENST00000492888 ENST00000469892 ENST00000494948

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    hsa-miR-4254 hsa-miR-199a-3p hsa-miR-513a-5p hsa-miR-765 hsa-miR-301a hsa-miR-3916 hsa-miR-877* hsa-miR-130b
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    Inhib. RNA
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    Additional cDNA sequence: AK097107.1 

    24/29 DOTS entries (see all 29):

    DT.311888  DT.97838830  DT.91752073  DT.121377877  DT.447602  DT.100791793  DT.91752070  DT.100791790 
    DT.102832635  DT.121377907  DT.100030406  DT.100791791  DT.121377845  DT.121377878  DT.121377884  DT.121377910 
    DT.86838228  DT.121377840  DT.121377865  DT.121377933  DT.121377942  DT.405827  DT.91666370  DT.92035039 

    24/302 AceView cDNA sequences (see all 302):

    AU131313 BU145686 BQ675961 BC031672 BQ937029 BU617449 CB270352 BF870784 
    CA429702 BQ776053 AK024287 BM672794 BU157647 BE612619 CN481850 W90382 
    BQ681255 BU676958 BM479855 AL834315 AA317964 NM_024874 BU155771 BC014530 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0319L (see all 14)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^
    SP1:                                                                                                                                            -               
    SP2:                                                  -     -                             -                                                     -               
    SP3:                                                                                                                                                            
    SP4:                                                                                      -                 -     -     -                       -               
    SP5:        -     -     -     -     -     -     -     -     -                             -                                                                     

    ExUns: 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25
    SP1:                                                                                                      
    SP2:                                                                                                      
    SP3:                                                                                            -         
    SP4:                                                                                                      
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for KIAA0319L

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KIAA0319L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCACCCGGTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See KIAA0319L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA0319L

    SOURCE GeneReport for Unigene clusters: Hs.456507 Hs.683078

    UniProtKB/Swiss-Prot: K319L_HUMAN, Q8IZA0
    Tissue specificity: Expressed in cortical neurons in the brain cortex (at protein level)

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for KIAA0319L gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves KIAA0319L1 KIAA0319-like 75.83(n)
    80.81(a)
      419634  XM_417781.3  XP_417781.3 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA0319L6
    --
    70(a)
    1 ↔ 1
    GL343308.1(41689-76407)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.44062 Xenopus laevis transcribed sequence with weak similarity to protein refNP_055624.1 (H.sapiens) KIAA0319 gene product [Homo sapiens] less 73.97(n)    BJ069305.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-193k19.11 si:ch211-193k19.1 61.24(n)
    60.82(a)
      100034533  XM_003200638.1  XP_003200686.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG75656
    --
    30(a)
    possible ortholog
    3L(8080735-8084886)


    ENSEMBL Gene Tree for KIAA0319L (if available)
    TreeFam Gene Tree for KIAA0319L (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KIAA0319L gene
    KIAA03192  
    1 SIMAP similar gene for KIAA0319L using alignment to 11 protein entries:     K319L_HUMAN (see all proteins):
    KIAA0319

    KIAA0319L for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1789 NCBI SNPs in KIAA0319L are shown (see all 1789    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1907844451,2
    --35898700(+) GTACAA/GTCAAC 1 -- ds50010--------
    rs1387279841,2
    --35898711(+) ACATTG/TGGGGG 1 -- ds50010--------
    rs1825195591,2
    --35898775(+) AATTTC/GTAAAG 1 -- ds50010--------
    rs668315111,2
    C,F,--35898838(+) GACATG/AATCAT 1 -- ds50014Minor allele frequency- A:0.07WA NA 242
    rs11886411,2
    C,F,O,A,H,--35899006(-) TCGTGT/GCCTCT 1 -- ds500120Minor allele frequency- G:0.16NS EA NA CSA WA 2189
    rs120902331,2
    C,F,A,H,--35899030(+) CCCAGG/AGGGTG 1 -- ds500117Minor allele frequency- A:0.23NS EA NA WA CSA 2221
    rs1161201691,2
    --35899178(+) CACTCC/ACCCAA 1 -- ut311Minor allele frequency- A:0.01WA 118
    rs1418624511,2
    --35899213(+) TAACCA/GTGGTG 1 -- ut310--------
    rs786785081,2
    C,F,--35899247(+) CTCAGG/AAAGTC 1 -- ut311Minor allele frequency- A:0.05WA 118
    rs1167654471,2
    C,F,--35899308(+) AGCCAA/GGAGCC 1 -- ut311Minor allele frequency- G:0.02NA 120

    HapMap Linkage Disequilibrium report for KIAA0319L (35899091 - 36023551 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for KIAA0319L
         1 Indel: 11020

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    KIAA0319L for disorders           About GeneDecksing

    OMIM gene information: 613535    OMIM disorders: --

    4 diseases for KIAA0319L:    About MalaCards
    dyslexia    polycystic kidney disease    kidney disease    neuronitis

    1 disease from the University of Copenhagen DISEASES database for KIAA0319L:
    Dyslexia
    Human Genome Epidemiology (HuGE) Navigator: KIAA0319L (2 documents)

    Export disorders for KIAA0319L gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KIAA0319L gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with KIAA0319L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2, 3 Nagase T.... Ohara O. (2001)
    2. Dyslexia-associated kiaa0319-like protein interacts with axon guidance receptor nogo receptor 1. (PubMed id 20697954)1, 2 Poon M.W.... Waye M.M. (2011)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The KIAA0319-like (KIAA0319L) Gene on chromosome 1p34 as a candidate for reading disabilities. (PubMed id 19085271)1, 9 Couto J.M....Barr C.L. (2008)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    7. Association of genetic variants with chronic kidney d isease in individuals with different lipid profiles. (PubMed id 19578796)1 Yoshida T....Yamada Y. (2009)
    8. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (2009)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    10. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79932 HGNC: 30071 AceView: PKD1-like Ensembl:ENSG00000142687 euGenes: HUgn79932
    ECgene: KIAA0319L H-InvDB: KIAA0319L

    (According to HUGE)
    About This Section
    HUGE: KIAA0319L

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KIAA0319L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KIAA0319L gene:
    Search GeneIP for patents involving KIAA0319L

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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