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    C1QTNF3 C1q and TNF related 3 [ Homo sapiens (human) ]

    Gene ID: 114899, updated on 14-Nov-2024

    Summary

    Official Symbol
    C1QTNF3provided by HGNC
    Official Full Name
    C1q and TNF related 3provided by HGNC
    Primary source
    HGNC:HGNC:14326
    See related
    Ensembl:ENSG00000082196 MIM:612045; AllianceGenome:HGNC:14326
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CORS; CORCS; CTRP3; CORS26; C1ATNF3; CORS-26
    Summary
    Enables identical protein binding activity. Involved in several processes, including intracellular triglyceride homeostasis; negative regulation of non-canonical NF-kappaB signal transduction; and regulation of cytokine production. Acts upstream of or within negative regulation of gluconeogenesis. Located in extracellular exosome and membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in esophagus (RPKM 12.4), urinary bladder (RPKM 10.0) and 21 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See C1QTNF3 in Genome Data Viewer
    Location:
    5p13.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (34017858..34244724, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (34139780..34489333, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (34017963..34244829, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 45 member 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:33978101-33978993 Neighboring gene C1QTNF3-AMACR readthrough (NMD candidate) Neighboring gene proteasome 26S subunit, ATPase, 6 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15964 Neighboring gene alpha-methylacyl-CoA racemase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:34179672-34180662 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:34182107-34182256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:34182743-34183352 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:34188477-34188645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22457 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:34190819-34191799 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:34191800-34192781 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:34192782-34193762 Neighboring gene GUSB pseudogene 18 Neighboring gene integral membrane glycoprotein-like pseudogene Neighboring gene Sharpr-MPRA regulatory region 11513 Neighboring gene uncharacterized LOC105374719 Neighboring gene uncharacterized LOC124900957

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough C1QTNF3-AMACR

    Readthrough gene: C1QTNF3-AMACR, Included gene: AMACR

    Clone Names

    • FLJ37576

    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 

    General protein information

    Preferred Names
    complement C1q tumor necrosis factor-related protein 3
    Names
    C1q and tumor necrosis factor related protein 3
    cartonectin
    collagenous repeat-containing sequence 26 kDa protein
    collagenous repeat-containing sequence of 26-kDa
    secretory protein CORS26
    NP_112207.1
    NP_852100.3

    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.

    mRNA and Protein(s)

    1. NM_030945.4NP_112207.1  complement C1q tumor necrosis factor-related protein 3 isoform a precursor

      See identical proteins and their annotated locations for NP_112207.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the shorter isoform (a).
      Source sequence(s)
      AC139783, AF329837, AK295968, BX640995
      Consensus CDS
      CCDS3904.1
      UniProtKB/Swiss-Prot
      Q0VAN4, Q542Y2, Q6MZN1, Q96KY1, Q9BXJ4
      Related
      ENSP00000231338.7, ENST00000231338.7
      Conserved Domains (2) summary
      pfam01391
      Location:71113
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:119242
      C1q; C1q domain
    2. NM_181435.6NP_852100.3  complement C1q tumor necrosis factor-related protein 3 isoform b precursor

      See identical proteins and their annotated locations for NP_852100.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site that results in an additional segment in the 5' coding region, compared to variant 1. The encoded isoform (b) is longer than isoform a.
      Source sequence(s)
      AC139783, AK295968, BX640995
      Consensus CDS
      CCDS34141.1
      UniProtKB/Swiss-Prot
      Q9BXJ4
      Related
      ENSP00000371497.3, ENST00000382065.8
      Conserved Domains (2) summary
      pfam01391
      Location:144186
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:192315
      C1q; C1q domain

    RNA

    1. NR_146599.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses a different 5' exon structure compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AC138409, AC139783, AC139792

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      34017858..34244724 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      34139780..34489333 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)