Kiaa0319 KIAA0319 homolog [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Kiaa0319provided by RGD
Official Full Name: KIAA0319 homologprovided by RGD
Primary source: RGD:1307443
See related: EnsemblRapid:ENSRNOG00000018141 AllianceGenome:RGD:1307443
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: RGD1307443
Summary: Predicted to be involved in negative regulation of dendrite development and neuron migration. Predicted to act upstream of or within several processes, including central nervous system development; negative regulation of axon extension involved in regeneration; and positive regulation of SMAD protein signal transduction. Predicted to be located in early endosome. Predicted to be active in cytoplasmic vesicle and plasma membrane. Orthologous to human KIAA0319 (KIAA0319). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Brain (RPKM 53.4), Testes (RPKM 6.4) and 1 other tissue See more
Orthologs: human mouse all
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Genomic context

Location:: 17p11

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	17	NC_086035.1 (40587001..40654525, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	17	NC_051352.1 (40162512..40226666, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	17	NC_005116.4 (42163245..42226725, complement)

Chromosome 17 - NC_086035.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study establishes KIAA0319 as a novel player in axon growth and regeneration with the ability to repress the intrinsic growth potential of axons; describes a novel regulatory mechanism operating during peripheral nervous system and central nervous system axon growth, and offers novel targets for the development of effective therapies to promote axon regeneration
Title: The Dyslexia-susceptibility Protein KIAA0319 Inhibits Axon Growth Through Smad2 Signaling.
Reduced expression of the dyslexia-associated gene KIAA0319 can cause phoneme processing impairments similar to those seen in dyslexia.
Title: Speech sound processing deficits and training-induced neural plasticity in rats with dyslexia gene knockdown.
These results provide the first evidence that decreased expression of the dyslexia-associated gene Kiaa0319 can alter cortical responses and impair phoneme processing in auditory cortex.
Title: Knockdown of the dyslexia-associated gene Kiaa0319 impairs temporal responses to speech stimuli in rat primary auditory cortex.
These results suggest that Kiaa0319 has a specific involvement in neural systems important for temporal processing.
Title: The effects of Kiaa0319 knockdown on cortical and subcortical anatomy in male rats.

Submit: New GeneRIF Correction

General gene information

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Markers

D130043K22Rik (e-PCR), detects polymorphism
- UniSTS:496535

D17Rat19 (e-PCR), detects polymorphism
- UniSTS:119498

BF403768 (e-PCR)
- UniSTS:246512

D17Got45 (e-PCR)
- UniSTS:112124

Gene Ontology Provided by RGD

Process	Evidence Code	Pubs
acts_upstream_of_or_within central nervous system neuron development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within multicellular organismal response to stress	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of axon extension	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of axon extension involved in regeneration	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of dendrite development	ISO Inferred from Sequence Orthology more info
NOT acts_upstream_of_or_within neurogenesis	ISO Inferred from Sequence Orthology more info
involved_in neuron migration	IBA Inferred from Biological aspect of Ancestor more info
NOT acts_upstream_of_or_within neuron migration	ISO Inferred from Sequence Orthology more info
involved_in neuron migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of SMAD protein signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to auditory stimulus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sensory perception of sound	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within thalamus development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within vocal learning	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: dyslexia-associated protein KIAA0319 homolog

Names: dyslexia susceptibility 2

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)

NM_001197023.2 → NP_001183952.1 dyslexia-associated protein KIAA0319 homolog precursor

See identical proteins and their annotated locations for NP_001183952.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000017

UniProtKB/Swiss-Prot

P0CI71

UniProtKB/TrEMBL

A0A8I5ZUN7

Related

ENSRNOP00000024536.6, ENSRNOT00000024536.8

Conserved Domains (3) summary

smart00089
Location:635 → 721

PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins

cd00146
Location:728 → 817

PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

cl06508
Location:23 → 102

MANEC; MANEC domain

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086035.1 Reference GRCr8

Range

40587001..40654525 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006253936.5 → XP_006253998.1 dyslexia-associated protein KIAA0319 homolog isoform X2

UniProtKB/TrEMBL

A0A8I5ZUN7

Related

ENSRNOP00000108764.1, ENSRNOT00000123476.1

Conserved Domains (3) summary

smart00089
Location:635 → 721

PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins

cd00146
Location:728 → 817

PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

cl06508
Location:23 → 102

MANEC; MANEC domain
XM_063276602.1 → XP_063132672.1 dyslexia-associated protein KIAA0319 homolog isoform X1

UniProtKB/Swiss-Prot

P0CI71

UniProtKB/TrEMBL

A0A8I5ZUN7
XM_017600604.3 → XP_017456093.1 dyslexia-associated protein KIAA0319 homolog isoform X1

UniProtKB/Swiss-Prot

P0CI71

UniProtKB/TrEMBL

A0A8I5ZUN7

Conserved Domains (3) summary

smart00089
Location:635 → 721

PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins

cd00146
Location:728 → 817

PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

cl06508
Location:23 → 102

MANEC; MANEC domain
XM_063276606.1 → XP_063132676.1 dyslexia-associated protein KIAA0319 homolog isoform X5
XM_063276604.1 → XP_063132674.1 dyslexia-associated protein KIAA0319 homolog isoform X3

UniProtKB/TrEMBL

A0A8I5ZUN7
XM_063276605.1 → XP_063132675.1 dyslexia-associated protein KIAA0319 homolog isoform X4

UniProtKB/TrEMBL

A6KLE9