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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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