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    KIAA0319L KIAA0319 like [ Homo sapiens (human) ]

    Gene ID: 79932, updated on 3-Apr-2024

    Summary

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    Official Symbol
    KIAA0319Lprovided by HGNC
    Official Full Name
    KIAA0319 likeprovided by HGNC
    Primary source
    HGNC:HGNC:30071
    See related
    Ensembl:ENSG00000142687 MIM:613535; AllianceGenome:HGNC:30071
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AAVR; AAVRL
    Summary
    Predicted to act upstream of or within several processes, including flagellated sperm motility; proacrosomal vesicle fusion; and receptor-mediated endocytosis of virus by host cell. Located in Golgi apparatus; cytoplasmic vesicle; and nucleolus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 17.9), prostate (RPKM 15.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1p34.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (35433492..35557661, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (35296549..35420730, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (35899093..36023004, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene zinc finger MYM-type containing 4 Neighboring gene NANOG hESC enhancer GRCh37_chr1:35827234-35827735 Neighboring gene ZMYM4 antisense RNA 1 Neighboring gene MPRA-validated peak172 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:35855531-35856150 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:35856151-35856768 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:35916701-35916880 Neighboring gene RNY5 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 728 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:35931229-35931375 Neighboring gene Sharpr-MPRA regulatory region 12145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 729 Neighboring gene zinc finger protein 485 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:35996497-35996998 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:35996999-35997498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 640 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36019721-36020677 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36020678-36021633 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36022434-36023161 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36023162-36023888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 643 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:36024616-36025341 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36025798-36026432 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:36035818-36035919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:36038879-36039378 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36039620-36040366 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36042064-36042916 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36042917-36043769 Neighboring gene TFAP2E antisense RNA 1 Neighboring gene neurochondrin Neighboring gene transcription factor AP-2 epsilon

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of diagnostic markers and immune cell infiltration characteristics in antineutrophil cytoplasmic antibody-associated vasculitis by weighted gene co-expression network analysis. Xia M, et al. Eur J Med Res, 2022 Mar 5. PMID 35246248, Free PMC Article
    2. An Alternate Route for Adeno-associated Virus (AAV) Entry Independent of AAV Receptor. Dudek AM, et al. J Virol, 2018 Apr 1. PMID 29343568, Free PMC Article
    3. The KIAA0319-like (KIAA0319L) gene on chromosome 1p34 as a candidate for reading disabilities. Couto JM, et al. J Neurogenet, 2008. PMID 19085271, Free PMC Article
    4. AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice. Guidi LG, et al. Sci Rep, 2018 Jul 10. PMID 29991750, Free PMC Article
    5. AAV2-Mediated Transduction of the Mouse Retina After Optic Nerve Injury. Nickells RW, et al. Invest Ophthalmol Vis Sci, 2017 Dec 1. PMID 29204649, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Comprehensive biophysical characterization of AAV-AAVR interaction uncovers serotype- and pH-dependent interaction.
      Title: Comprehensive biophysical characterization of AAV-AAVR interaction uncovers serotype- and pH-dependent interaction.
    2. Identification of diagnostic markers and immune cell infiltration characteristics in antineutrophil cytoplasmic antibody-associated vasculitis by weighted gene co-expression network analysis.
      Title: Identification of diagnostic markers and immune cell infiltration characteristics in antineutrophil cytoplasmic antibody-associated vasculitis by weighted gene co-expression network analysis.
    3. Optic nerve damage may change retinal architecture to allow greater penetration of an AAV2 virus to transduce several additional cell types in the inner nuclear layer.
      Title: AAV2-Mediated Transduction of the Mouse Retina After Optic Nerve Injury.
    4. AAVR directly binds to AAV2 particles, and that anti-AAVR antibodies efficiently block AAV2 infection; moreover, genetic ablation of AAVR renders a wide range of mammalian cell types highly resistant to AAV2 infection
      Title: An essential receptor for adeno-associated virus infection.
    5. genetic association study in Han population in China: Data suggest an SNP in PXK [rs2176082(C/T); but not rs6445975(G/T)] is associated with recurrent pregnancy loss; SNPs in KIAA0319L [rs2275247(A/G)] or JAZF1 [rs1635852(C/T)] are not associated.
      Title: Association between KIAA0319L, PXK and JAZF1 gene polymorphisms and unexplained recurrent pregnancy loss in Chinese Han couples.
    6. Results identify KIAA0319L as novel susceptibility loci for Systemic sclerosis (SSc) and systemic lupus erythematosus (SLE). KIAA0319L was overexpressed in peripheral blood cells of SSc and SLE patients compared with healthy controls.
      Title: A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
    7. Kiaa0319-like protein interacts with Nogo Receptor 1, supporting the idea that Kiaa0319-like protein participates in axon guidance.
      Title: Dyslexia-associated kiaa0319-like protein interacts with axon guidance receptor nogo receptor 1.
    8. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.
    9. KIAA0319L remains an intriguing positional and functional candidate for RD, especially when considered alongside the supporting evidence for its homolog KIAA0319 on chromosome 6p.
      Title: The KIAA0319-like (KIAA0319L) gene on chromosome 1p34 as a candidate for reading disabilities.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: The KIAA0319-like (KIAA0319L) gene on chromosome 1p34 as a candidate for reading disabilities.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    integrase gag-pol Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that KIAA0319L gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with KIAA0319L PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ44532, KIAA1837

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in neuron migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dyslexia-associated protein KIAA0319-like protein
    Names
    AAV receptor like
    adeno-associated virus receptor
    polycystic kidney disease 1-related

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_024874.5 → NP_079150.3  dyslexia-associated protein KIAA0319-like protein

      See identical proteins and their annotated locations for NP_079150.3

      Status: REVIEWED

      Source sequence(s)
      AL834315, BC014530, DC369564
      Consensus CDS
      CCDS390.1
      UniProtKB/Swiss-Prot
      B1AN13, D3DPR8, O95010, Q6PJJ7, Q7L1C9, Q8IZA0, Q8N2B3, Q8NDA0, Q8WY39, Q8WYZ5, Q96IC3, Q96JJ0, Q9BUW6, Q9H7V0
      UniProtKB/TrEMBL
      B2RBC8
      Related
      ENSP00000318406.3, ENST00000325722.8
      Conserved Domains (2) summary
      smart00089
      Location:504 → 592
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam18911
      Location:679 → 769
      PKD_4; PKD domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      35433492..35557661 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006710909.3 → XP_006710972.1  dyslexia-associated protein KIAA0319-like protein isoform X2

      See identical proteins and their annotated locations for XP_006710972.1

      UniProtKB/Swiss-Prot
      B1AN13, D3DPR8, O95010, Q6PJJ7, Q7L1C9, Q8IZA0, Q8N2B3, Q8NDA0, Q8WY39, Q8WYZ5, Q96IC3, Q96JJ0, Q9BUW6, Q9H7V0
      UniProtKB/TrEMBL
      B2RBC8
      Related
      ENSP00000395883.3, ENST00000426982.7
      Conserved Domains (2) summary
      smart00089
      Location:504 → 592
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam18911
      Location:679 → 769
      PKD_4; PKD domain

    2. XM_017002369.3 → XP_016857858.1  dyslexia-associated protein KIAA0319-like protein isoform X1

      UniProtKB/TrEMBL
      B2RBC8

    3. XM_047430826.1 → XP_047286782.1  dyslexia-associated protein KIAA0319-like protein isoform X2

      UniProtKB/Swiss-Prot
      B1AN13, D3DPR8, O95010, Q6PJJ7, Q7L1C9, Q8IZA0, Q8N2B3, Q8NDA0, Q8WY39, Q8WYZ5, Q96IC3, Q96JJ0, Q9BUW6, Q9H7V0
      Related
      ENSP00000419396.2, ENST00000469892.6

    4. XM_047430825.1 → XP_047286781.1  dyslexia-associated protein KIAA0319-like protein isoform X1

    5. XM_017002366.2 → XP_016857855.1  dyslexia-associated protein KIAA0319-like protein isoform X1

      UniProtKB/TrEMBL
      B2RBC8

    6. XM_017002367.2 → XP_016857856.1  dyslexia-associated protein KIAA0319-like protein isoform X1

      UniProtKB/TrEMBL
      B2RBC8

    7. XM_047430845.1 → XP_047286801.1  dyslexia-associated protein KIAA0319-like protein isoform X11

      Related
      ENSP00000513041.1, ENST00000697011.1

    8. XM_047430829.1 → XP_047286785.1  dyslexia-associated protein KIAA0319-like protein isoform X4

      UniProtKB/TrEMBL
      A0A8V8TKL4
      Related
      ENSP00000513058.1, ENST00000461312.6

    9. XM_047430827.1 → XP_047286783.1  dyslexia-associated protein KIAA0319-like protein isoform X3

    10. XM_047430831.1 → XP_047286787.1  dyslexia-associated protein KIAA0319-like protein isoform X6

      UniProtKB/TrEMBL
      A0A8V8TKX7
      Related
      ENSP00000513031.1, ENST00000697001.1

    11. XM_047430830.1 → XP_047286786.1  dyslexia-associated protein KIAA0319-like protein isoform X5

    12. XM_047430832.1 → XP_047286788.1  dyslexia-associated protein KIAA0319-like protein isoform X6

      UniProtKB/TrEMBL
      A0A8V8TKX7
      Related
      ENSP00000513053.1, ENST00000697023.1

    13. XM_047430837.1 → XP_047286793.1  dyslexia-associated protein KIAA0319-like protein isoform X9

      Related
      ENSP00000407576.1, ENST00000440579.5

    14. XM_047430836.1 → XP_047286792.1  dyslexia-associated protein KIAA0319-like protein isoform X8

    15. XM_047430844.1 → XP_047286800.1  dyslexia-associated protein KIAA0319-like protein isoform X9

      Related
      ENSP00000513047.1, ENST00000697017.1

    16. XM_047430834.1 → XP_047286790.1  dyslexia-associated protein KIAA0319-like protein isoform X7

    17. XM_047430840.1 → XP_047286796.1  dyslexia-associated protein KIAA0319-like protein isoform X10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      35296549..35420730 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338810.1 → XP_054194785.1  dyslexia-associated protein KIAA0319-like protein isoform X2

      UniProtKB/Swiss-Prot
      B1AN13, D3DPR8, O95010, Q6PJJ7, Q7L1C9, Q8IZA0, Q8N2B3, Q8NDA0, Q8WY39, Q8WYZ5, Q96IC3, Q96JJ0, Q9BUW6, Q9H7V0

    2. XM_054338809.1 → XP_054194784.1  dyslexia-associated protein KIAA0319-like protein isoform X1

    3. XM_054338805.1 → XP_054194780.1  dyslexia-associated protein KIAA0319-like protein isoform X2

      UniProtKB/Swiss-Prot
      B1AN13, D3DPR8, O95010, Q6PJJ7, Q7L1C9, Q8IZA0, Q8N2B3, Q8NDA0, Q8WY39, Q8WYZ5, Q96IC3, Q96JJ0, Q9BUW6, Q9H7V0

    4. XM_054338804.1 → XP_054194779.1  dyslexia-associated protein KIAA0319-like protein isoform X1

    5. XM_054338808.1 → XP_054194783.1  dyslexia-associated protein KIAA0319-like protein isoform X1

    6. XM_054338814.1 → XP_054194789.1  dyslexia-associated protein KIAA0319-like protein isoform X1

    7. XM_054338820.1 → XP_054194795.1  dyslexia-associated protein KIAA0319-like protein isoform X11

    8. XM_054338807.1 → XP_054194782.1  dyslexia-associated protein KIAA0319-like protein isoform X4

      UniProtKB/TrEMBL
      A0A8V8TKL4

    9. XM_054338806.1 → XP_054194781.1  dyslexia-associated protein KIAA0319-like protein isoform X3

    10. XM_054338812.1 → XP_054194787.1  dyslexia-associated protein KIAA0319-like protein isoform X6

      UniProtKB/TrEMBL
      A0A8V8TKX7

    11. XM_054338811.1 → XP_054194786.1  dyslexia-associated protein KIAA0319-like protein isoform X5

    12. XM_054338813.1 → XP_054194788.1  dyslexia-associated protein KIAA0319-like protein isoform X6

      UniProtKB/TrEMBL
      A0A8V8TKX7

    13. XM_054338817.1 → XP_054194792.1  dyslexia-associated protein KIAA0319-like protein isoform X9

    14. XM_054338816.1 → XP_054194791.1  dyslexia-associated protein KIAA0319-like protein isoform X8

    15. XM_054338819.1 → XP_054194794.1  dyslexia-associated protein KIAA0319-like protein isoform X9

    16. XM_054338815.1 → XP_054194790.1  dyslexia-associated protein KIAA0319-like protein isoform X7

    17. XM_054338818.1 → XP_054194793.1  dyslexia-associated protein KIAA0319-like protein isoform X10

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_182686.1: Suppressed sequence

      Description
      NM_182686.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZA0.2 GenPept UniProtKB/Swiss-Prot:Q8IZA0

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