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

Gene ID: 330286, updated on 26-Sep-2022

Summary

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, Apr 2022]
Expression
Broad expression in whole brain E14.5 (RPKM 12.1), CNS E18 (RPKM 10.8) and 16 other tissues See more
Orthologs
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Genomic context

See D630045J12Rik in Genome Data Viewer
Location:
6; 6 B1
Exon count:
20
Annotation release Status Assembly Chr Location
109 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 zinc finger CCCH-type, antiviral 1-like Neighboring gene predicted gene 7504

Genomic regions, transcripts, and products

Expression

  • 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

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in photoreceptor connecting cilium IDA
Inferred from Direct Assay
more info
PubMed 

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_194061.3NP_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
    Related
    ENSMUSP00000130121.2, ENSMUST00000169256.5
    Conserved Domains (2) summary
    pfam05904
    Location:508664
    DUF863; Plant protein of unknown function (DUF863)
    pfam12877
    Location:10261691
    DUF3827; Domain of unknown function (DUF3827)

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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)