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D630045J12Rik RIKEN cDNA D630045J12 gene [ Mus musculus (house mouse) ]

Gene ID: 330286, updated on 2-Nov-2024

Summary

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Official Symbol
D630045J12Rikprovided by MGI
Official Full Name
RIKEN cDNA D630045J12 geneprovided by MGI
Primary source
MGI:MGI:2669829
See related
Ensembl:ENSMUSG00000063455 AllianceGenome:MGI:2669829
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Kiaa1549; mKIAA1549
Summary
Located in photoreceptor connecting cilium. Is expressed in several structures, including central nervous system; dorsal root ganglion; retina; tooth; and trachea cartilaginous ring. Human ortholog(s) of this gene implicated in retinitis pigmentosa 86. Orthologous to human KIAA1549 (KIAA1549). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in whole brain E14.5 (RPKM 12.1), CNS E18 (RPKM 10.8) and 16 other tissues See more
Orthologs
human all
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Genomic context

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See D630045J12Rik in Genome Data Viewer
Location:
6 B1; 6 17.68 cM
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (38100109..38231074, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (38123174..38254139, complement)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene ATPase, H+ transporting, lysosomal V0 subunit A4 Neighboring gene transmembrane protein 213 Neighboring gene predicted gene, 23231 Neighboring gene predicted gene, 52858 Neighboring gene STARR-positive B cell enhancer mm9_chr6:38110166-38110466 Neighboring gene STARR-seq mESC enhancer starr_15615 Neighboring gene zinc finger CCCH-type, antiviral 1-like Neighboring gene predicted gene 7504

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data 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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Related articles in PubMed

  1. Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa. de Bruijn SE, et al. J Med Genet, 2018 Oct. PMID 30120214
  2. A neurogenomics approach to gene expression analysis in the developing brain. Jensen P, et al. Brain Res Mol Brain Res, 2004 Dec 20. PMID 15582152
  3. Ex vivo Quantitative Proteomic Analysis of Serotonin Transporter Interactome: Network Impact of the SERT Ala56 Coding Variant. Quinlan MA, et al. Front Mol Neurosci, 2020. PMID 32581705, Free PMC Article
  4. Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Aug 31. PMID 14621295
  5. KCTD13-mediated ubiquitination and degradation of GluN1 regulates excitatory synaptic transmission and seizure susceptibility. Gu J, et al. Cell Death Differ, 2023 Jul. PMID 37142655, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (3) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in photoreceptor connecting cilium IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
UPF0606 protein KIAA1549

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_194061.3 → NP_918950.2  UPF0606 protein KIAA1549 precursor

    See identical proteins and their annotated locations for NP_918950.2

    Status: VALIDATED

    Source sequence(s)
    AC125530, AC157667
    Consensus CDS
    CCDS51749.1
    UniProtKB/Swiss-Prot
    Q68FD9, Q6ZPN1
    UniProtKB/TrEMBL
    D3YTS3
    Related
    ENSMUSP00000130121.2, ENSMUST00000169256.5
    Conserved Domains (2) summary
    pfam05904
    Location:508 → 664
    DUF863; Plant protein of unknown function (DUF863)
    pfam12877
    Location:1026 → 1691
    DUF3827; Domain of unknown function (DUF3827)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    38100109..38231074 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q68FD9.3 GenPept UniProtKB/Swiss-Prot:Q68FD9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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