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

Gene ID: 235312, updated on 21-Apr-2024

Summary

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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 AllianceGenome:MGI:2385958
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Adie; Mfrp; 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]
Expression
Biased expression in genital fat pad adult (RPKM 22.4), adrenal adult (RPKM 3.8) and 12 other tissues See more
Orthologs
human all
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Genomic context

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Location:
9 A5.1; 9 24.62 cM
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (44013067..44020484)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (44101770..44109187)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1383 Neighboring gene predicted gene, 39325 Neighboring gene ubiquitin specific peptidase 2 Neighboring gene predicted gene, 38444 Neighboring gene membrane frizzled-related protein Neighboring gene STARR-seq mESC enhancer starr_23954 Neighboring gene ring finger protein 26 Neighboring gene STARR-seq mESC enhancer starr_23955 Neighboring gene predicted gene 10687

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. C1q/TNF-related protein 5 contributes to diabetic vascular endothelium dysfunction through promoting Nox-1 signaling. Liu J, et al. Redox Biol, 2020 Jul. PMID 32122792, Free PMC Article
  2. The novel adipokine CTRP5 is a negative regulator of white adipose tissue browning. Rao C, et al. Biochem Biophys Res Commun, 2019 Mar 12. PMID 30717975
  3. Pathological Effects of Mutant C1QTNF5 (S163R) Expression in Murine Retinal Pigment Epithelium. Dinculescu A, et al. Invest Ophthalmol Vis Sci, 2015 Oct. PMID 26513502, Free PMC Article
  4. A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration. Chavali VR, et al. Hum Mol Genet, 2011 May 15. PMID 21349921, Free PMC Article
  5. Loss of CTRP5 improves insulin action and hepatic steatosis. Lei X, et al. Am J Physiol Endocrinol Metab, 2016 Jun 1. PMID 27143553, Free PMC Article

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A Novel Mouse Model for Late-Onset Retinal Degeneration (L-ORD) Develops RPE Abnormalities Due to the Loss of C1qtnf5/Ctrp5.
    Title: A Novel Mouse Model for Late-Onset Retinal Degeneration (L-ORD) Develops RPE Abnormalities Due to the Loss of C1qtnf5/Ctrp5.
  2. C1q/TNF-related protein 5 contributes to diabetic vascular endothelium dysfunction through promoting Nox-1 signaling.
    Title: C1q/TNF-related protein 5 contributes to diabetic vascular endothelium dysfunction through promoting Nox-1 signaling.
  3. CTRP5 is a negative regulator of adipose browning. CTRP5 exerts its effect, at least in part, by suppressing adipocyte autophagy.
    Title: The novel adipokine CTRP5 is a negative regulator of white adipose tissue browning.
  4. pathological effects of S163R mutation expression in retinal pigment epithelium
    Title: Pathological Effects of Mutant C1QTNF5 (S163R) Expression in Murine Retinal Pigment Epithelium.
  5. Presence of rd8 (Crb1) mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model carrying the Ctrp5 mutation.
    Title: Presence of rd8 mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model.
  6. CTRP-5 is functionally involved in adipocyte biology.
    Title: Regulation and function of C1Q/TNF-related protein-5 (CTRP-5) in the context of adipocyte biology.
  7. Ets-2 play a key role in transcriptional regulation of CTRP5 in muscle cells.
    Title: Ets-2 is involved in transcriptional regulation of C1qTNF-related protein 5 in muscle cells.
  8. CTRP5, a secretory and membrane-associated protein, is localized to the lateral and apical membranes of the RPE and CB. Impaired secretion of the mutant protein may underlie the pathophysiology of long anterior zonules and late-onset retinal degeneration.
    Title: CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion.
  9. L-ORMD is due to insufficient levels of secreted C1QTNF5, compromised RPE cell function resulting from ER retention of the mutant protein or both mechanisms.
    Title: Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (4)  1 citation
  • Endonuclease-mediated (1) 

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables identical protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within inner ear development IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within protein secretion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in bicellular tight junction IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cell projection IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cell projection IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular region IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular space HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in lateral plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in transport vesicle IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
complement C1q tumor necrosis factor-related protein 5
Names
Membrane frizzled-related protein
adiponectin e

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_001040631.2 → NP_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
    F8WHS3, Q4ZJN4, Q8R002
    Related
    ENSMUSP00000110464.2, ENSMUST00000114816.8
    Conserved Domains (2) summary
    pfam01391
    Location:29 → 95
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:105 → 232
    C1q; C1q domain

  2. NM_001040632.2 → NP_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
    F8WHS3, Q4ZJN4, Q8R002
    Related
    ENSMUSP00000110469.4, ENSMUST00000114821.9
    Conserved Domains (2) summary
    pfam01391
    Location:29 → 95
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:105 → 232
    C1q; C1q domain

  3. NM_001190313.1 → NP_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
    UniProtKB/TrEMBL
    F8WHS3, Q4ZJN4, Q8R002
    Conserved Domains (2) summary
    pfam01391
    Location:29 → 95
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:105 → 232
    C1q; C1q domain

  4. NM_001190319.1 → NP_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
    F8WHS3, Q4ZJN4, Q8R002
    Conserved Domains (2) summary
    pfam01391
    Location:29 → 95
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:105 → 232
    C1q; C1q domain

  5. NM_145613.4 → NP_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
    UniProtKB/TrEMBL
    F8WHS3, Q4ZJN4, Q8R002
    Conserved Domains (2) summary
    pfam01391
    Location:29 → 95
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:105 → 232
    C1q; C1q domain

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_000075.7 Reference GRCm39 C57BL/6J

    Range
    44013067..44020484
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8K479.1 GenPept UniProtKB/Swiss-Prot:Q8K479

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