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Aliases for KIAA0319L Gene

Aliases for KIAA0319L Gene

  • KIAA0319 Like 2 3 5
  • Adeno-Associated Virus Receptor 3 4
  • AAVR 3 4
  • Dyslexia-Associated Protein KIAA0319-Like Protein 3
  • Polycystic Kidney Disease 1-Related 3
  • KIAA0319-Like 2
  • AAV Receptor 3
  • KIAA1837 4

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 Dyslexia and Limited Scleroderma. An important paralog of this gene is KIAA0319.

UniProtKB/Swiss-Prot for KIAA0319L Gene

  • Possible role in axon guidance through interaction with RTN4R.

  • (Microbial infection) Acts as a receptor for adeno-associated virus and is involved in adeno-associated virus infection through endocytosis system.

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

Enhancers for KIAA0319L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F035505 0.6 Ensembl ENCODE 21 +50.3 50285 4.7 ATF1 PKNOX1 FEZF1 ZNF2 GLIS2 GATA2 FOS ZNF263 JUNB REST ZMYM1 KIAA0319L ENSG00000230163 LOC105378647 THRAP3 SFPQ TMEM35B RPL5P4 NCDN LOC653160
GH01F035442 0.2 Ensembl 20.1 +115.2 115150 0.8 ZNF664 ZFHX2 MAFK KIAA0319L NCDN ENSG00000232335 CLSPN GC01M035428 GC01P035455
GH01F035287 0.8 Ensembl ENCODE 18.9 +269.5 269473 2.6 MTA2 JUN JUNB CEBPB TBX21 JUND IKZF1 HMBOX1 NBN FOS KIAA0319L ENSG00000201542 ENSG00000201868 SFPQ LOC653160 TMEM35B NCDN RN7SL503P ZMYM4
GH01F035603 0.2 ENCODE 16.7 -45.7 -45725 0.2 KIAA0319L LOC105378645 TFAP2E NCDN ENSG00000232335 CLSPN GC01P035622
GH01F035285 1.1 Ensembl ENCODE 14.1 +271.6 271649 1.0 ZNF362 GATA3 ZNF146 ZNF512 ZBTB33 FOS ZBTB40 TCF7L2 KIAA0319L ENSG00000201542 ENSG00000201868 SFPQ ZMYM6 LOC653160 TMEM35B NCDN ENSG00000232335 CLSPN
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KIAA0319L on UCSC Golden Path with GeneCards custom track

Promoters for KIAA0319L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000164626 250 3001 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A YBX1 FEZF1

Genomic Location for KIAA0319L Gene

Chromosome:
1
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

Genes around KIAA0319L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA0319L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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.
    • (Microbial infection) Interacts with AAV-2 VP1.
    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

Post-translational modifications for KIAA0319L Gene

  • N-glycosylated.
  • Glycosylation at Ser 177, Thr 201, Asn 247, Asn 395, Asn 472, Asn 487, Asn 525, Asn 742, and Asn 890
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIAA0319L Gene

Domains & Families 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 :
  • Contains 1 MANSC domain.
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.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for adeno-associated virus and is involved in adeno-associated virus infection through endocytosis system.

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

Human Phenotype Ontology for KIAA0319L Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for KIAA0319L

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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. Golgi apparatus membrane; Multi-pass membrane protein. Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=Traffics from the plasma membrane to the trans-Golgi network. {ECO:0000269 PubMed:26814968}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIAA0319L Gene COMPARTMENTS Subcellular localization image for KIAA0319L gene
Compartment Confidence
extracellular 5
nucleus 3
plasma membrane 3
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KIAA0319L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KIAA0319L: view

Pathways & Interactions for KIAA0319L Gene

SuperPathways for KIAA0319L Gene

No Data Available

Gene Ontology (GO) - Biological Process for KIAA0319L Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KIAA0319L Gene

Transcripts for KIAA0319L Gene

Unigene Clusters for KIAA0319L Gene

KIAA0319-like:
Representative Sequences:

Inhibitory RNA Products

Clone 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 from HIPED for KIAA0319L Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KIAA0319L Gene



NURSA nuclear receptor signaling pathways regulating expression of KIAA0319L Gene:

KIAA0319L

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 expression patterns with KIAA0319L: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-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
chimpanzee
(Pan troglodytes)
Mammalia KIAA0319L 34 35
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia KIAA0319L 34 35
  • 90.32 (n)
cow
(Bos Taurus)
Mammalia KIAA0319L 34 35
  • 89.35 (n)
mouse
(Mus musculus)
Mammalia AU040320 34 16 35
  • 85.8 (n)
rat
(Rattus norvegicus)
Mammalia LOC100294508 34
  • 85.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 83 (a)
OneToMany
-- 35
  • 64 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia KIAA0319L 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA0319L 34 35
  • 73.39 (n)
lizard
(Anolis carolinensis)
Reptilia KIAA0319L 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0319l 34
  • 65.29 (n)
Str.11053 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4406 34
zebrafish
(Danio rerio)
Actinopterygii si:ch211-193k19.1 34 35
  • 63.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7565 35
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
OneToMany
Species where no ortholog for KIAA0319L was found in the sources mined by GeneCards:
  • 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

(1) 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
rs10157108 -- 35,435,124(+) GCCTC(A/C)AGGCT intron-variant, downstream-variant-500B
rs10157137 -- 35,435,621(+) TGCAC(A/G)CTTGG intron-variant
rs10157720 -- 35,482,969(+) actgt(A/G)gttgt intron-variant
rs10399590 -- 35,435,753(+) ACCTG(C/T)GATTC intron-variant
rs10493068 -- 35,457,870(+) AAAAA(C/G)AAAAA intron-variant

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

Variant ID Type Subtype PubMed ID
esv33735 CNV gain 17666407
nsv1012556 CNV gain 25217958

Variation tolerance for KIAA0319L Gene

Residual Variation Intolerance Score: 6.64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.65; 45.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIAA0319L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA0319L

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

Disorders for KIAA0319L Gene

MalaCards: The human disease database

(3) MalaCards diseases for KIAA0319L Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dyslexia
limited scleroderma
  • crest syndrome
reading disorder
  • specific reading disorder
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KIAA0319L

Genetic Association Database (GAD)
KIAA0319L
Human Genome Epidemiology (HuGE) Navigator
KIAA0319L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIAA0319L
genes like me logo Genes that share disorders with KIAA0319L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIAA0319L Gene

Publications for KIAA0319L Gene

  1. An essential receptor for adeno-associated virus infection. (PMID: 26814968) Pillay S. … Carette J.E. (Nature 2016) 2 3 4 64
  2. 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 22 46 64
  3. 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 64
  4. 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 64
  5. 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 46 64

Products for KIAA0319L Gene

Sources for KIAA0319L Gene

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