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    Fam193b family with sequence similarity 193, member B [ Mus musculus (house mouse) ]

    Gene ID: 212483, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Fam193bprovided by MGI
    Official Full Name
    family with sequence similarity 193, member Bprovided by MGI
    Primary source
    MGI:MGI:2385851
    See related
    Ensembl:ENSMUSG00000021495 AllianceGenome:MGI:2385851
    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
    IRIZIO; Kiaa1931
    Summary
    Located in cytoplasm. Is expressed in central nervous system and retina. Orthologous to human FAM193B (family with sequence similarity 193 member B). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thymus adult (RPKM 74.0), adrenal adult (RPKM 37.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Fam193b in Genome Data Viewer
    Location:
    13 B1; 13 30.06 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (55687129..55718920, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (55539316..55571120, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E10796 Neighboring gene docking protein 3 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:55637802-55638169 Neighboring gene DEAD box helicase 41 Neighboring gene predicted gene, 46416 Neighboring gene predicted gene, 31364 Neighboring gene transmembrane p24 trafficking protein 9

    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. IRIZIO: a novel gene cooperating with PAX3-FOXO1 in alveolar rhabdomyosarcoma (ARMS). Picchione F, et al. Carcinogenesis, 2011 Apr. PMID 21177767, Free PMC Article
    2. Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss. Scekic-Zahirovic J, et al. EMBO J, 2016 May 17. PMID 26951610, Free PMC Article
    3. Prediction of the coding sequences of mouse homologues of KIAA gene: IV. 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, 2004 Jun 30. PMID 15368895
    4. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Stryke D, et al. Nucleic Acids Res, 2003 Jan 1. PMID 12520002, Free PMC Article
    5. BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. Magdaleno S, et al. PLoS Biol, 2006 Apr. PMID 16602821, 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 (2) 

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC29235, MGC38018, MGC39032

    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 cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear speck ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM193B

    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_001408645.1 → NP_001395574.1  protein FAM193B isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC126408
      UniProtKB/Swiss-Prot
      Q3U2K0, Q69Z63, Q8K1B4, Q8VCA1

    2. NM_001408646.1 → NP_001395575.1  protein FAM193B isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC126408
      UniProtKB/TrEMBL
      A0A286YE27
      Related
      ENSMUSP00000153687.3, ENSMUST00000225240.3

    3. NM_001408647.1 → NP_001395576.1  protein FAM193B isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC126408

    4. NM_001408648.1 → NP_001395577.1  protein FAM193B isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC126408

    5. NM_001408649.1 → NP_001395578.1  protein FAM193B isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC126408

    6. NM_001408650.1 → NP_001395579.1  protein FAM193B isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC126408

    7. NM_001408651.1 → NP_001395580.1  protein FAM193B isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC126408

    8. NM_001408652.1 → NP_001395581.1  protein FAM193B isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC126408

    9. NM_001408653.1 → NP_001395582.1  protein FAM193B isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC126408

    10. NM_001408654.1 → NP_001395583.1  protein FAM193B isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC126408

    11. NM_001408655.1 → NP_001395584.1  protein FAM193B isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC126408

    12. NM_001408656.1 → NP_001395585.1  protein FAM193B isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC126408

    13. NM_001408657.1 → NP_001395586.1  protein FAM193B isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC126408

    14. NM_001408658.1 → NP_001395587.1  protein FAM193B isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC126408

    15. NM_145382.5 → NP_663357.2  protein FAM193B isoform 1

      See identical proteins and their annotated locations for NP_663357.2

      Status: VALIDATED

      Source sequence(s)
      AC126408
      Consensus CDS
      CCDS36678.1
      UniProtKB/Swiss-Prot
      Q3U2K0
      Related
      ENSMUSP00000021957.7, ENSMUST00000021957.8
      Conserved Domains (2) summary
      PTZ00449
      Location:568 → 720
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      pfam15914
      Location:723 → 773
      FAM193_C; FAM193 family C-terminal

    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_000079.7 Reference GRCm39 C57BL/6J

      Range
      55687129..55718920 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036157964.1 → XP_036013857.1  protein FAM193B isoform X7

      Conserved Domains (2) summary
      pfam15914
      Location:643 → 693
      FAM193_C; FAM193 family C-terminal
      NF033839
      Location:305 → 637
      PspC_subgroup_2; pneumococcal surface protein PspC, LPXTG-anchored form

    2. XM_017315477.2 → XP_017170966.1  protein FAM193B isoform X8

      Conserved Domains (3) summary
      PTZ00449
      Location:388 → 540
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      pfam15914
      Location:543 → 593
      FAM193_C; FAM193 family C-terminal
      NF033839
      Location:231 → 537
      PspC_subgroup_2; pneumococcal surface protein PspC, LPXTG-anchored form

    3. XM_017315475.2 → XP_017170964.1  protein FAM193B isoform X6

      Conserved Domains (2) summary
      PTZ00449
      Location:536 → 688
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      pfam15914
      Location:691 → 741
      FAM193_C; FAM193 family C-terminal

    4. XM_006517195.3 → XP_006517258.1  protein FAM193B isoform X2

      Conserved Domains (3) summary
      PTZ00449
      Location:615 → 767
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      pfam15914
      Location:770 → 820
      FAM193_C; FAM193 family C-terminal
      pfam17061
      Location:142 → 251
      PARM

    5. XM_036157970.1 → XP_036013863.1  protein FAM193B isoform X11

      Conserved Domains (2) summary
      PTZ00449
      Location:233 → 385
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      pfam15914
      Location:388 → 438
      FAM193_C; FAM193 family C-terminal

    RNA

    1. XR_001780770.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3U2K0.2 GenPept UniProtKB/Swiss-Prot:Q3U2K0

    Gene LinkOut

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

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