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    C1qtnf5 C1q and tumor necrosis factor related protein 5 [ Mus musculus (house mouse) ]

    Gene ID: 235312, updated on 26-Nov-2016
    Official Symbol
    C1qtnf5provided by MGI
    Official Full Name
    C1q and tumor necrosis factor related protein 5provided by MGI
    Primary source
    MGI:MGI:2385958
    See related
    Ensembl:ENSMUSG00000079592 Vega:OTTMUSG00000020632
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ctrp5
    Summary
    The protein encoded by this gene is a member of the C1q/tumor necrosis factor superfamily. This family member is a secretory protein that functions in eye development. Mutations in this gene are thought to underlie the pathophysiology of late-onset retinal degeneration (L-ORD) and early-onset long anterior zonules (LAZ). Bicistronic transcripts composed of the coding sequences for this gene (C1qtnf5) and the membrane-type frizzled-related protein gene (Mfrp) have been identified, and the resulting products can interact with each other. Co-transcription of C1qtnf5 and Mfrp has been observed in both human and mouse. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
    Orthologs
    Location:
    9 A5.1; 9 24.62 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 9 NC_000075.6 (44101770..44109187)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (43909853..43917270)

    Chromosome 9 - NC_000075.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 39325 Neighboring gene ubiquitin specific peptidase 2 Neighboring gene predicted gene, 38444 Neighboring gene membrane frizzled-related protein Neighboring gene ring finger protein 26 Neighboring gene predicted gene 10687

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

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

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    inner ear development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein trimerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bicellular tight junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome ISO
    Inferred from Sequence Orthology
    more info
     
    extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transport vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    complement C1q tumor necrosis factor-related protein 5

    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_001040631.2NP_001035721.1  complement C1q tumor necrosis factor-related protein 5 precursor

      See identical proteins and their annotated locations for NP_001035721.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. This variant is represented as monocistronic and may not be 5'-complete; it is unclear if it exists in bicistronic form with the Mfrp ORF, or if it is derived from an internal promoter. Variants 1-5 encode the same C1qtnf5 protein.
      Source sequence(s)
      AC148328, AW490764, BE861753, DQ002398
      Consensus CDS
      CCDS52777.1
      UniProtKB/Swiss-Prot
      Q8K479
      UniProtKB/TrEMBL
      Q4ZJN4
      Related
      ENSMUSP00000110464, OTTMUSP00000022526, ENSMUST00000114816, OTTMUST00000048877
      Conserved Domains (2) summary
      pfam01391
      Location:2995
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:105232
      C1q; C1q domain
    2. NM_001040632.2NP_001035722.1  complement C1q tumor necrosis factor-related protein 5 precursor

      See identical proteins and their annotated locations for NP_001035722.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. This variant is represented as monocistronic and may not be 5'-complete; it is unclear if it exists in bicistronic form with the Mfrp ORF, or if it is derived from an internal promoter. Variants 1-5 encode the same C1qtnf5 protein.
      Source sequence(s)
      AC148328, AW490764, BE861753, CX201109
      Consensus CDS
      CCDS52777.1
      UniProtKB/Swiss-Prot
      Q8K479
      UniProtKB/TrEMBL
      Q4ZJN4
      Related
      ENSMUSP00000110469, OTTMUSP00000022528, ENSMUST00000114821, OTTMUST00000048879
      Conserved Domains (2) summary
      pfam01391
      Location:2995
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:105232
      C1q; C1q domain
    3. NM_001190313.1NP_001177242.1  complement C1q tumor necrosis factor-related protein 5 precursor

      See identical proteins and their annotated locations for NP_001177242.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. This variant is a bicistronic transcript that can encode the C1qtnf5 and Mfrp products; the C1qtnf5 protein is represented in this RefSeq. Variants 1-5 encode the same C1qtnf5 protein.
      Source sequence(s)
      AC148328, AF469650, AK053629
      Consensus CDS
      CCDS52777.1
      UniProtKB/Swiss-Prot
      Q8K479, Q8K480
      UniProtKB/TrEMBL
      Q4ZJN4
      Conserved Domains (2) summary
      pfam01391
      Location:2995
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:105232
      C1q; C1q domain
    4. NM_001190319.1NP_001177248.1  complement C1q tumor necrosis factor-related protein 5 precursor

      See identical proteins and their annotated locations for NP_001177248.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. This variant is represented as monocistronic and may not be 5'-complete; it is unclear if it exists in bicistronic form with the Mfrp ORF, or if it is derived from an internal promoter. Variants 1-5 encode the same C1qtnf5 protein.
      Source sequence(s)
      AW490764, BE861753, CK626457
      Consensus CDS
      CCDS52777.1
      UniProtKB/Swiss-Prot
      Q8K479
      UniProtKB/TrEMBL
      Q4ZJN4
      Conserved Domains (2) summary
      pfam01391
      Location:2995
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:105232
      C1q; C1q domain
    5. NM_145613.4NP_663588.2  complement C1q tumor necrosis factor-related protein 5 precursor

      See identical proteins and their annotated locations for NP_663588.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. This variant is a bicistronic transcript that can encode the C1qtnf5 and Mfrp products; the C1qtnf5 protein is represented in this RefSeq. Variants 1-5 encode the same C1qtnf5 protein.
      Source sequence(s)
      AF469650, AK053629
      Consensus CDS
      CCDS52777.1
      UniProtKB/Swiss-Prot
      Q8K479, Q8K480
      UniProtKB/TrEMBL
      Q4ZJN4
      Conserved Domains (2) summary
      pfam01391
      Location:2995
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:105232
      C1q; C1q domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000075.6 Reference GRCm38.p4 C57BL/6J

      Range
      44101770..44109187
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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