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KIAA0319L KIAA0319 like [ Homo sapiens (human) ]

Gene ID: 79932, updated on 22-May-2022

Summary

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
This gene is a candidate gene for dyslexia susceptibility.[provided by RefSeq, Apr 2009]
Expression
Ubiquitous expression in thyroid (RPKM 17.9), prostate (RPKM 15.0) and 25 other tissues See more
Orthologs
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Genomic context

See KIAA0319L in Genome Data Viewer
Location:
1p34.3
Exon count:
24
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (35433492..35557661, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (35296549..35420448, 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 Sharpr-MPRA regulatory region 699 Neighboring gene RNY5 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 12145 Neighboring gene zinc finger protein 485 pseudogene Neighboring gene TFAP2E antisense RNA 1 Neighboring gene neurochondrin Neighboring gene transcription factor AP-2 epsilon

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_024874.5NP_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
    Q8IZA0
    Related
    ENSP00000318406.3, ENST00000325722.8
    Conserved Domains (2) summary
    smart00089
    Location:504592
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam18911
    Location:679769
    PKD_4; PKD domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_006710909.3XP_006710972.1  dyslexia-associated protein KIAA0319-like protein isoform X2

    See identical proteins and their annotated locations for XP_006710972.1

    UniProtKB/Swiss-Prot
    Q8IZA0
    Related
    ENSP00000395883.2, ENST00000426982.6
    Conserved Domains (2) summary
    smart00089
    Location:504592
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam18911
    Location:679769
    PKD_4; PKD domain
  2. XM_017002369.3XP_016857858.1  dyslexia-associated protein KIAA0319-like protein isoform X1

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

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

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

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

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

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

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

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

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

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

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

    Related
    ENSP00000407576.1, ENST00000440579.5
  14. XM_047430836.1XP_047286792.1  dyslexia-associated protein KIAA0319-like protein isoform X8

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

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

  17. XM_047430840.1XP_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..35420448 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.