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Aliases for KIAA0319L Gene

Aliases for KIAA0319L Gene

  • KIAA0319-Like 2 3
  • KIAA1837 4 6

External Ids for KIAA0319L Gene

Previous GeneCards Identifiers for KIAA0319L Gene

  • GC01M035569
  • GC01M035671
  • GC01M035899
  • GC01M034017

Summaries for KIAA0319L Gene

Entrez Gene Summary for KIAA0319L Gene

  • This gene is a candidate gene for dyslexia susceptibility.[provided by RefSeq, Apr 2009]

GeneCards Summary for KIAA0319L Gene

KIAA0319L (KIAA0319-Like) is a Protein Coding gene. Diseases associated with KIAA0319L include limited scleroderma and dyslexia. An important paralog of this gene is KIAA0319.

UniProtKB/Swiss-Prot for KIAA0319L Gene

  • Possible role in axon guidance through interaction with RTN4R.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA0319L Gene

Genomics for KIAA0319L Gene

Regulatory Elements for KIAA0319L Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KIAA0319L Gene

Start:
35,433,490 bp from pter
End:
35,557,950 bp from pter
Size:
124,461 bases
Orientation:
Minus strand

Genomic View for KIAA0319L Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KIAA0319L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA0319L Gene

Proteins for KIAA0319L Gene

  • Protein details for KIAA0319L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZA0-K319L_HUMAN
    Recommended name:
    Dyslexia-associated protein KIAA0319-like protein
    Protein Accession:
    Q8IZA0
    Secondary Accessions:
    • B1AN13
    • D3DPR8
    • O95010
    • Q6PJJ7
    • Q7L1C9
    • Q8N2B3
    • Q8NDA0
    • Q8WY39
    • Q8WYZ5
    • Q96IC3
    • Q96JJ0
    • Q9BUW6
    • Q9H7V0

    Protein attributes for KIAA0319L Gene

    Size:
    1049 amino acids
    Molecular mass:
    115658 Da
    Quaternary structure:
    • Interacts with RTN4R.
    SequenceCaution:
    • Sequence=AAD05028.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAL55781.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14874.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB47466.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=CAI22688.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI23123.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KIAA0319L Gene

    Alternative splice isoforms for KIAA0319L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA0319L Gene

Proteomics data for KIAA0319L Gene at MOPED

Post-translational modifications for KIAA0319L Gene

  • N-glycosylated.
  • Glycosylation at Ser177, Thr197, Thr201, Ser204, Asn247, Asn395, Asn472, Asn487, Asn525, Asn742, and Asn890
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for KIAA0319L Gene

Domains for KIAA0319L Gene

Protein Domains for KIAA0319L Gene

Suggested Antigen Peptide Sequences for KIAA0319L Gene

Graphical View of Domain Structure for InterPro Entry

Q8IZA0

UniProtKB/Swiss-Prot:

K319L_HUMAN :
  • Q8IZA0
Domain:
  • Contains 1 MANSC domain.
  • Contains 5 PKD domains.
genes like me logo Genes that share domains with KIAA0319L: view

No data available for Gene Families for KIAA0319L Gene

Function for KIAA0319L Gene

Molecular function for KIAA0319L Gene

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

Gene Ontology (GO) - Molecular Function for KIAA0319L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20697954
genes like me logo Genes that share ontologies with KIAA0319L: view

Phenotypes for KIAA0319L Gene

genes like me logo Genes that share phenotypes with KIAA0319L: view

Animal Model Products

CRISPR Products

miRNA for KIAA0319L Gene

miRTarBase miRNAs that target KIAA0319L

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KIAA0319L

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for KIAA0319L Gene

Localization for KIAA0319L Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIAA0319L Gene

Cytoplasmic granule membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIAA0319L Gene COMPARTMENTS Subcellular localization image for KIAA0319L gene
Compartment Confidence
plasma membrane 3
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KIAA0319L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0031410 cytoplasmic vesicle IDA 20697954
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with KIAA0319L: view

Pathways for KIAA0319L Gene

SuperPathways for KIAA0319L Gene

No Data Available

Interacting Proteins for KIAA0319L Gene

Gene Ontology (GO) - Biological Process for KIAA0319L Gene

None

No data available for Pathways by source for KIAA0319L Gene

Transcripts for KIAA0319L Gene

Unigene Clusters for KIAA0319L Gene

KIAA0319-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KIAA0319L

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0319L Gene

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: - - - - - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - -
SP8: - - - - -
SP9: - - -
SP10: - - - -
SP11: -
SP12: - - - - - - -
SP13: - - -
SP14:

ExUns: 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25
SP1:
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for KIAA0319L Gene

GeneLoc Exon Structure for
KIAA0319L
ECgene alternative splicing isoforms for
KIAA0319L

Expression for KIAA0319L Gene

mRNA expression in normal human tissues for KIAA0319L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for KIAA0319L Gene

This gene is overexpressed in Plasma (29.1) and Serum (23.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KIAA0319L Gene

SOURCE GeneReport for Unigene cluster for KIAA0319L Gene Hs.456507

mRNA Expression by UniProt/SwissProt for KIAA0319L Gene

Q8IZA0-K319L_HUMAN
Tissue specificity: Expressed in cortical neurons in the brain cortex (at protein level).
genes like me logo Genes that share expressions with KIAA0319L: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Expression partners for KIAA0319L Gene

Orthologs for KIAA0319L Gene

This gene was present in the common ancestor of animals.

Orthologs for KIAA0319L Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KIAA0319L 35
  • 89.35 (n)
  • 89.16 (a)
KIAA0319L 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA0319L 35
  • 90.32 (n)
  • 90.28 (a)
KIAA0319L 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia AU040320 35
  • 85.8 (n)
  • 84.53 (a)
AU040320 16
AU040320 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KIAA0319L 35
  • 99.65 (n)
  • 99.71 (a)
KIAA0319L 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100294508 35
  • 85.27 (n)
  • 83.3 (a)
oppossum
(Monodelphis domestica)
Mammalia KIAA0319L 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 64 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
chicken
(Gallus gallus)
Aves KIAA0319L 35
  • 73.39 (n)
  • 75.35 (a)
KIAA0319L 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA0319L 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0319l 35
  • 65.29 (n)
  • 65.42 (a)
Str.11053 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.4406 35
zebrafish
(Danio rerio)
Actinopterygii si:ch211-193k19.1 35
  • 63.59 (n)
  • 64.95 (a)
si:ch211-193k19.1 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7565 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToMany
Species with no ortholog for KIAA0319L:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KIAA0319L Gene

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

Paralogs for KIAA0319L Gene

Paralogs for KIAA0319L Gene

Selected SIMAP similar genes for KIAA0319L Gene using alignment to 10 proteins:

genes like me logo Genes that share paralogs with KIAA0319L: view

Variants for KIAA0319L Gene

Sequence variations from dbSNP and Humsavar for KIAA0319L Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs917105 -- 35,473,873(-) TGAGC(C/G)AGTTG intron-variant
rs946449 -- 35,440,193(-) GGACT(C/T)TGCAC intron-variant
rs950847 -- 35,445,095(+) CCTCA(G/T)CATGC intron-variant
rs950848 -- 35,445,247(+) TGCCA(C/T)AGACT intron-variant
rs1061855 -- 35,433,561(-) TTAAA(A/G)AGACA utr-variant-3-prime, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA0319L Gene

Variant ID Type Subtype PubMed ID
nsv870757 CNV Gain 21882294
esv33735 CNV Gain 17666407

Relevant External Links for KIAA0319L Gene

HapMap Linkage Disequilibrium report
KIAA0319L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA0319L Gene

Disorders for KIAA0319L Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for KIAA0319L Gene in MalaCards »

(2) Diseases for KIAA0319L Gene including...

(1) University of Copenhagen DISEASES for KIAA0319L Gene

Relevant External Links for KIAA0319L

Genetic Association Database (GAD)
KIAA0319L
Human Genome Epidemiology (HuGE) Navigator
KIAA0319L
genes like me logo Genes that share disorders with KIAA0319L: view

No data available for OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships and Genatlas for KIAA0319L Gene

Publications for KIAA0319L Gene

  1. The KIAA0319-like (KIAA0319L) gene on chromosome 1p34 as a candidate for reading disabilities. (PMID: 19085271) Couto J.M. … Barr C.L. (J. Neurogenet. 2008) 3 23 48
  2. 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. (PMID: 11347906) Nagase T. … Ohara O. (DNA Res. 2001) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Association of genetic variants with chronic kidney disease in individuals with different lipid profiles. (PMID: 19578796) Yoshida T. … Yamada Y. (Int. J. Mol. Med. 2009) 3 48
  5. Dyslexia-associated kiaa0319-like protein interacts with axon guidance receptor nogo receptor 1. (PMID: 20697954) Poon M.W. … Waye M.M. (Cell. Mol. Neurobiol. 2011) 3 4

Products for KIAA0319L Gene

Sources for KIAA0319L Gene

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