D130043K22Rik RIKEN cDNA D130043K22 gene [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: D130043K22Rikprovided by MGI
Official Full Name: RIKEN cDNA D130043K22 geneprovided by MGI
Primary source: MGI:MGI:3036268
See related: Ensembl:ENSMUSG00000006711 AllianceGenome:MGI:3036268
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Kiaa0319; 4930451E12Rik
Summary: This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in a similar gene in human are associated with dyslexia. Alternatively spliced transcript variants have been identifed. [provided by RefSeq, May 2015]
Expression: Biased expression in cortex adult (RPKM 3.8), frontal lobe adult (RPKM 2.9) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 A3.1; 13 10.72 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (25029114..25085422)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (24845131..24901439)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Analyses of Kiaa0319L (AU040320) and double Kiaa0319;AU040320 knockouts (dKO) revealed no evidence for impaired cortical lamination, neuronal migration, neurogenesis or other anatomical abnormalities. However, dKO mice displayed an auditory deficit in a behavioral gap-in-noise detection task. Recordings of click-evoked auditory brainstem responses revealed suprathreshold deficits in wave III amplitude in AU040320-KO mice.
Title: Knockout Mice for Dyslexia Susceptibility Gene Homologs KIAA0319 and KIAA0319L have Unaffected Neuronal Migration but Display Abnormal Auditory Processing.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

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

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within multicellular organismal response to stress	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of axon extension	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within negative regulation of axon extension involved in regeneration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of axon extension involved in regeneration	ISO Inferred from Sequence Orthology more info	PubMed
involved_in negative regulation of dendrite development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within nervous system development	IEA Inferred from Electronic Annotation more info
NOT acts_upstream_of_or_within neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
NOT acts_upstream_of_or_within neuron migration	IGI Inferred from Genetic Interaction more info	PubMed
NOT acts_upstream_of_or_within neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of SMAD protein signal transduction	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within response to auditory stimulus	IGI Inferred from Genetic Interaction more info	PubMed

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 endosome	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor 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

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_001081051.2 → NP_001074520.1 dyslexia-associated protein KIAA0319 homolog precursor

See identical proteins and their annotated locations for NP_001074520.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the protein.

Source sequence(s)

AK051381, AK148668, AL589699, AV332865, BY718582

Consensus CDS

CCDS36624.1

UniProtKB/Swiss-Prot

Q14BF3, Q5SZV5, Q80U39

UniProtKB/TrEMBL

Q3UFC3

Related

ENSMUSP00000006893.9, ENSMUST00000006893.9

Conserved Domains (3) summary

smart00089
Location:444 → 530

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

RNA

NR_131787.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK051381, AL589699, AV332865

Related

ENSMUST00000141572.8