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Aliases for KIAA0319L Gene

Aliases for KIAA0319L Gene

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

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.

Additional gene information for KIAA0319L Gene

No data available for CIViC summary , 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
GH01H035505 1.3 Ensembl ENCODE 21 +50.7 50672 3 HDGF PKNOX1 ATF1 FEZF1 ZNF2 GLIS2 GATA2 FOS ATF7 RUNX3 ZMYM6 ZMYM4 AGO3 KIAA0319L ZMYM1 SFPQ NCDN LOC653160 LOC100419802 GC01P035467
GH01H035553 1.7 Ensembl ENCODE dbSUPER 10 +1.1 1085 6 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 YBX1 ZMYM4 ZMYM6 SFPQ AGO3 ZMYM1 LOC653160 THRAP3 LOC100419802 ENSG00000232335 RPL12P45
GH01H035444 1.4 Ensembl ENCODE dbSUPER 11.7 +108.2 108239 11 HDGF FOXA2 PKNOX1 TBL1XR1 RB1 ARNT ARID4B RAD21 YY1 ZNF143 NCDN KIAA0319L ENSG00000232335 CLSPN ZMYM4 GC01P035455 GC01M035428
GH01H035287 0.8 Ensembl ENCODE 18.9 +269.5 269473 2 JUND JUN CEBPB HMBOX1 FOS PRDM1 KIAA0319L ENSG00000201542 ENSG00000201868 SFPQ LOC653160 TMEM35B NCDN RN7SL503P ZMYM4
GH01H035706 1.4 FANTOM5 Ensembl ENCODE 10.4 -150.0 -149970 2 KLF17 BATF GLIS2 KLF7 EGR2 SP3 ZNF398 ZNF610 GLIS1 KDM1A LOC105378645 TFAP2E ENSG00000232335 CLSPN KIAA0319L NCDN TEKT2 AGO1 GC01M035706 PIR49848
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000004685 350 2001 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 YY1

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 isoforms=2177, posLast=201201, posLast=247247, posLast=395395, isoforms=2472, posLast=487487, isoforms=2525, isoforms=2, 3742, and isoforms=2, 3890
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIAA0319L Gene

Domains & Families for KIAA0319L Gene

Gene Families for KIAA0319L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for KIAA0319L Gene

Suggested Antigen Peptide Sequences for KIAA0319L Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for KIAA0319L Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KIAA0319L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIAA0319L gene
Compartment Confidence
plasma membrane 5
extracellular 5
golgi apparatus 4
nucleus 3
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoli (2)
See all subcellular structures

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

Drugs & Compounds for KIAA0319L Gene

No Compound Related Data Available

Transcripts for KIAA0319L Gene

Unigene Clusters for KIAA0319L Gene

KIAA0319-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KIAA0319L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, 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).

Evidence on tissue expression from TISSUES for KIAA0319L Gene

  • Nervous system(4.9)
  • Lung(4.5)
  • Kidney(4.4)
  • Liver(4.3)
  • Muscle(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KIAA0319L Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • skeleton
Organs:
Head and neck:
  • brain
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • skin
  • spinal column
  • vertebrae
  • white blood cell
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 33 34
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia KIAA0319L 33 34
  • 90.32 (n)
cow
(Bos Taurus)
Mammalia KIAA0319L 33 34
  • 89.35 (n)
mouse
(Mus musculus)
Mammalia AU040320 34 16 33
  • 85.8 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100294508 33
  • 85.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 83 (a)
OneToMany
-- 34
  • 64 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia KIAA0319L 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA0319L 33 34
  • 73.39 (n)
lizard
(Anolis carolinensis)
Reptilia KIAA0319L 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0319l 33
  • 65.29 (n)
Str.11053 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.4406 33
zebrafish
(Danio rerio)
Actinopterygii si:ch211-193k19.1 33 34
  • 63.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7565 34
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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
rs1000003016 -- 35,472,340(+) AGGCT(A/G)GAGTG intron-variant
rs1000113533 -- 35,481,969(+) ACAGG(C/T)GCCCG intron-variant
rs1000139899 -- 35,489,954(+) AGCCA(C/T)CATGC intron-variant
rs1000161867 -- 35,511,286(+) AAAAC(A/C)AAAAA intron-variant
rs1000193437 -- 35,521,370(+) TGGCT(A/C)ACGCC 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

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

Disorder Aliases PubMed IDs
dyslexia
limited scleroderma
  • limited cutaneous systemic sclerosis
polycystic kidney disease 1
  • apkd1
reading disorder
  • dyslexia
- 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 JE (Nature 2016) 2 3 4 60
  2. The KIAA0319-like (KIAA0319L) gene on chromosome 1p34 as a candidate for reading disabilities. (PMID: 19085271) Couto JM … Barr CL (Journal of neurogenetics 2008) 3 22 45 60
  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 research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 60
  4. Dyslexia-associated kiaa0319-like protein interacts with axon guidance receptor nogo receptor 1. (PMID: 20697954) Poon MW … Waye MM (Cellular and molecular neurobiology 2011) 3 4 60
  5. Association of genetic variants with chronic kidney disease in individuals with different lipid profiles. (PMID: 19578796) Yoshida T … Yamada Y (International journal of molecular medicine 2009) 3 45 60

Products for KIAA0319L Gene

Sources for KIAA0319L Gene

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