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6430548M08Rik RIKEN cDNA 6430548M08 gene [ Mus musculus (house mouse) ]

Gene ID: 234797, updated on 5-Mar-2024

Summary

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Official Symbol
6430548M08Rikprovided by MGI
Official Full Name
RIKEN cDNA 6430548M08 geneprovided by MGI
Primary source
MGI:MGI:2443793
See related
Ensembl:ENSMUSG00000031824 AllianceGenome:MGI:2443793
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
Kiaa0513; mKIAA0513
Summary
Is expressed in forebrain. Orthologous to human KIAA0513 (KIAA0513). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in frontal lobe adult (RPKM 39.1), adrenal adult (RPKM 37.8) and 21 other tissues See more
Orthologs
human all
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Genomic context

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Location:
8 E1; 8 68.99 cM
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (120840891..120892046)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (120114152..120165307)

Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene zinc finger, DHHC domain containing 7 Neighboring gene RIKEN cDNA A130014A01 gene Neighboring gene STARR-positive B cell enhancer ABC_E3811 Neighboring gene STARR-positive B cell enhancer mm9_chr8:122701278-122701579 Neighboring gene CBY1 interacting BAR domain containing 2 Neighboring gene STARR-positive B cell enhancer ABC_E5046 Neighboring gene RIKEN cDNA A330074K22 gene

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
  • 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. Identification of KIAA0513 and Other Hub Genes Associated With Alzheimer Disease Using Weighted Gene Coexpression Network Analysis. Zhu M, et al. Front Genet, 2020. PMID 33005179, Free PMC Article
  2. A genomic atlas of mouse hypothalamic development. Shimogori T, et al. Nat Neurosci, 2010 Jun. PMID 20436479, Free PMC Article
  3. Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 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 Feb 28. PMID 12693553
  4. Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies. Murtaza N, et al. Cell Rep, 2022 Nov 22. PMID 36417873
  5. BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING). Motani K, et al. J Biol Chem, 2020 Aug 7. PMID 32554809, Free PMC Article

See all (18) 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 (1) 

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
is_active_in cellular_component ND
No biological Data available
more info
  

General protein information

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Preferred Names
uncharacterized protein KIAA0513

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_001163760.1 → NP_001157232.1  uncharacterized protein KIAA0513 isoform a

    See identical proteins and their annotated locations for NP_001157232.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AK133157, BC027126, CJ293122
    Consensus CDS
    CCDS22716.1
    UniProtKB/Swiss-Prot
    Q80TY8, Q8BQV3, Q8C8N9, Q8CCN0, Q8R0A7
    Related
    ENSMUSP00000104578.2, ENSMUST00000108950.2
    Conserved Domains (1) summary
    pfam12335
    Location:286 → 358
    SBF2; Myotubularin protein

  2. NM_001163761.1 → NP_001157233.1  uncharacterized protein KIAA0513 isoform b

    See identical proteins and their annotated locations for NP_001157233.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a.
    Source sequence(s)
    AK032447, AK044754, AK046401, AK133157, CJ293122
    Consensus CDS
    CCDS52685.1
    UniProtKB/TrEMBL
    Q3TA40
    Related
    ENSMUSP00000104579.2, ENSMUST00000108951.8

  3. NM_001163762.1 → NP_001157234.1  uncharacterized protein KIAA0513 isoform c

    See identical proteins and their annotated locations for NP_001157234.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (c) is shorter than isoform a.
    Source sequence(s)
    AK051096
    Consensus CDS
    CCDS52686.1
    UniProtKB/TrEMBL
    Q8BQB5
    Related
    ENSMUSP00000104576.2, ENSMUST00000108948.8

  4. NM_172286.4 → NP_758490.3  uncharacterized protein KIAA0513 isoform a

    See identical proteins and their annotated locations for NP_758490.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AK032447, AK044754, AK046401, AK133157, CJ293122
    Consensus CDS
    CCDS22716.1
    UniProtKB/Swiss-Prot
    Q80TY8, Q8BQV3, Q8C8N9, Q8CCN0, Q8R0A7
    Related
    ENSMUSP00000034281.7, ENSMUST00000034281.13
    Conserved Domains (1) summary
    pfam12335
    Location:286 → 358
    SBF2; Myotubularin protein

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_000074.7 Reference GRCm39 C57BL/6J

    Range
    120840891..120892046
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006530934.4 → XP_006530997.1  uncharacterized protein KIAA0513 isoform X1

    See identical proteins and their annotated locations for XP_006530997.1

    UniProtKB/Swiss-Prot
    Q80TY8, Q8BQV3, Q8C8N9, Q8CCN0, Q8R0A7
    Conserved Domains (1) summary
    pfam12335
    Location:286 → 358
    SBF2; Myotubularin protein
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8R0A7.1 GenPept UniProtKB/Swiss-Prot:Q8R0A7

Gene LinkOut

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

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