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Aliases for KIAA0319L Gene

Aliases for KIAA0319L Gene

  • KIAA0319 Like 2 3
  • KIAA0319-Like 2 3 5
  • Adeno-Associated Virus Receptor 3 4
  • AAVR 3 4
  • Polycystic Kidney Disease 1-Related 3
  • 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 LRP11.

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

Promoters for KIAA0319L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KIAA0319L on UCSC Golden Path with GeneCards custom track

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

Proteomics data for KIAA0319L Gene at MOPED

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

Antibody Products

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.
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

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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:0005886 plasma membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with KIAA0319L: view

Pathways & Interactions 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 and SIGNOR curated interactions for KIAA0319L Gene

Drugs & Compounds for KIAA0319L Gene

No Compound Related Data Available

Transcripts for KIAA0319L Gene

Unigene Clusters for KIAA0319L Gene

KIAA0319-like:
Representative Sequences:

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, 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 expression patterns with KIAA0319L: view

Primer Products

In Situ Assay 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
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

(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
rs1635712 - 35,479,151(-) GTCTG(A/G)TGGGC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1361040 - 35,448,175(+) GAGCA(C/G)AGGTA intron-variant, nc-transcript-variant, reference, missense
rs917105 -- 35,473,873(-) TGAGC(A/C/G)AGTTG intron-variant
rs950847 -- 35,445,095(+) CCTCA(G/T)CATGC intron-variant
rs950848 -- 35,445,247(+) TGCCA(C/T)AGACT intron-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

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

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

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

Disorder Aliases PubMed IDs
dyslexia
limited scleroderma
  • crest syndrome
kidney disease
  • nephropathy
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. 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 67
  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 23
  3. Association between KIAA0319L, PXK and JAZF1 gene polymorphisms and unexplained recurrent pregnancy loss in Chinese Han couples. (PMID: 25596907) Song G. … Chen Z.J. (Reprod. Biomed. Online 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. HIV latency. Specific HIV integration sites are linked to clonal expansion and persistence of infected cells. (PMID: 24968937) Maldarelli F. … Hughes S.H. (Science 2014) 3

Products for KIAA0319L Gene

Sources for KIAA0319L Gene

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