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    C1QTNF5 C1q and TNF related 5 [ Homo sapiens (human) ]

    Gene ID: 114902, updated on 5-Mar-2024

    Summary

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    Official Symbol
    C1QTNF5provided by HGNC
    Official Full Name
    C1q and TNF related 5provided by HGNC
    Primary source
    HGNC:HGNC:14344
    See related
    Ensembl:ENSG00000223953 MIM:608752; AllianceGenome:HGNC:14344
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MFRP; CTRP5
    Summary
    This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013]
    Expression
    Broad expression in gall bladder (RPKM 9.2), fat (RPKM 6.7) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11q23.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (119338942..119346705, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (119359579..119367342, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (119209652..119217415, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900316 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:119204879-119205770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3979 Neighboring gene ring finger protein 26 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:119228534-119229733 Neighboring gene membrane frizzled-related protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3980 Neighboring gene HNF4 motif-containing MPRA enhancer 223 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:119243670-119244170 Neighboring gene ubiquitin specific peptidase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:119247037-119247615 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:119247932-119248520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:119251478-119252467 Neighboring gene USP2 antisense RNA 1 Neighboring gene major facilitator superfamily domain containing 14B pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. MASSIVE ADVANCING NONEXUDATIVE TYPE 1 CHOROIDAL NEOVASCULARIZATION IN CTRP5 LATE-ONSET RETINAL DEGENERATION: Longitudinal Findings on Multimodal Imaging and Implications for Age-Related Macular Degeneration. Keenan TDL, et al. Retina, 2021 Nov 1. PMID 33990119, Free PMC Article
    2. Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene. De Zaeytijd J, et al. Ophthalmic Genet, 2021 Oct. PMID 33949280
    3. Association of serum and aqueous humor myonectin concentrations with diabetic retinopathy. Sun H, et al. Sci Rep, 2021 Mar 30. PMID 33785845, Free PMC Article
    4. Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant. Kellner U, et al. Int J Mol Sci, 2021 Feb 19. PMID 33669876, Free PMC Article
    5. Decreased serum myonectin concentrations in diabetic nephropathy patients. Zhang J, et al. Clin Exp Med, 2020 Nov. PMID 32852729

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Longitudinal Changes of Retinal Structure in Molecularly Confirmed C1QTNF5 Patients With Late-Onset Retinal Degeneration.
      Title: Longitudinal Changes of Retinal Structure in Molecularly Confirmed C1QTNF5 Patients With Late-Onset Retinal Degeneration.
    2. Upregulation of IL-8, osteonectin, and myonectin mRNAs by intermittent hypoxia via OCT1- and NRF2-mediated mechanisms in skeletal muscle cells.
      Title: Upregulation of IL-8, osteonectin, and myonectin mRNAs by intermittent hypoxia via OCT1- and NRF2-mediated mechanisms in skeletal muscle cells.
    3. Increased serum myonectin and irisin levels with myonectin and FNDC5 expressions in polycystic ovary syndrome: a case control study.
      Title: Increased serum myonectin and irisin levels with myonectin and FNDC5 expressions in polycystic ovary syndrome: a case control study.
    4. Evaluation of changing the pattern of CTRP5 and inflammatory markers levels in patients with coronary artery disease and type 2 diabetes mellitus.
      Title: Evaluation of changing the pattern of CTRP5 and inflammatory markers levels in patients with coronary artery disease and type 2 diabetes mellitus.
    5. AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration.
      Title: AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration.
    6. MASSIVE ADVANCING NONEXUDATIVE TYPE 1 CHOROIDAL NEOVASCULARIZATION IN CTRP5 LATE-ONSET RETINAL DEGENERATION: Longitudinal Findings on Multimodal Imaging and Implications for Age-Related Macular Degeneration.
      Title: MASSIVE ADVANCING NONEXUDATIVE TYPE 1 CHOROIDAL NEOVASCULARIZATION IN CTRP5 LATE-ONSET RETINAL DEGENERATION: Longitudinal Findings on Multimodal Imaging and Implications for Age-Related Macular Degeneration.
    7. Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene.
      Title: Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene.
    8. Association of serum and aqueous humor myonectin concentrations with diabetic retinopathy.
      Title: Association of serum and aqueous humor myonectin concentrations with diabetic retinopathy.
    9. Decreased serum myonectin concentrations in diabetic nephropathy patients.
      Title: Decreased serum myonectin concentrations in diabetic nephropathy patients.
    10. Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant.
      Title: Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant.
    Submit: New GeneRIF Correction See all GeneRIFs (39)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Late-onset retinal degeneration
    MedGen: C1854065 OMIM: 605670 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides downregulate gene expression of C1q and tumor necrosis factor related protein 5 (C1QTNF5) in U-937 macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ30570, DKFZp586B0621

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in inner ear development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cell projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in transport vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    complement C1q tumor necrosis factor-related protein 5
    Names
    C1q TNF-alpha-related protein 5
    C1q and tumor necrosis factor related protein 5
    Membrane frizzled-related protein
    myonectin

    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.

    Genomic

    1. NG_012235.1 RefSeqGene

      Range
      4969..12732
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278431.2 → NP_001265360.1  complement C1q tumor necrosis factor-related protein 5 precursor

      See identical proteins and their annotated locations for NP_001265360.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks multiple 5' exons and represents use of an internal promoter, compared to variant 1. This variant is a monocistronic transcript that only encodes the C1QTNF5 protein. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AY358383, BC029485
      Consensus CDS
      CCDS8420.1
      UniProtKB/Swiss-Prot
      A6NDD3, B0YJ35, Q335M2, Q8N6P2, Q9BXJ0, Q9UFX4
      UniProtKB/TrEMBL
      A0A024R3F8
      Related
      ENSP00000431140.1, ENST00000528368.3
      Conserved Domains (2) summary
      pfam00386
      Location:105 → 232
      C1q; C1q domain
      pfam01391
      Location:29 → 95
      Collagen; Collagen triple helix repeat (20 copies)

    2. NM_015645.5 → NP_056460.1  complement C1q tumor necrosis factor-related protein 5 precursor

      See identical proteins and their annotated locations for NP_056460.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer bicistronic transcript, which can encode both the C1QTNF5 and MFRP proteins; the C1QTNF5 protein is represented in this RefSeq. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AP003396
      Consensus CDS
      CCDS8420.1
      UniProtKB/Swiss-Prot
      A6NDD3, B0YJ35, Q335M2, Q8N6P2, Q9BXJ0, Q9UFX4
      UniProtKB/TrEMBL
      A0A024R3F8
      Conserved Domains (2) summary
      pfam00386
      Location:105 → 232
      C1q; C1q domain
      pfam01391
      Location:29 → 95
      Collagen; Collagen triple helix repeat (20 copies)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      119338942..119346705 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      119359579..119367342 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXJ0.1 GenPept UniProtKB/Swiss-Prot:Q9BXJ0

    Gene LinkOut

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

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