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

    Gene ID: 114902, updated on 27-May-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See C1QTNF5 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001278431.2NP_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:105232
      C1q; C1q domain
      pfam01391
      Location:2995
      Collagen; Collagen triple helix repeat (20 copies)
    2. NM_015645.5NP_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:105232
      C1q; C1q domain
      pfam01391
      Location:2995
      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)