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    C1QTNF8 C1q and TNF related 8 [ Homo sapiens (human) ]

    Gene ID: 390664, updated on 28-Oct-2024

    Summary

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    Official Symbol
    C1QTNF8provided by HGNC
    Official Full Name
    C1q and TNF related 8provided by HGNC
    Primary source
    HGNC:HGNC:31374
    See related
    Ensembl:ENSG00000184471 MIM:614147; AllianceGenome:HGNC:31374
    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
    CTRP8; UNQ5829
    Summary
    Involved in positive regulation of cell motility. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See C1QTNF8 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1088226..1096306, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1099983..1108623, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1138226..1146244, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1038856-1039356 Neighboring gene SRY-box transcription factor 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1051902-1052558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10216 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1059983-1060602 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1064356-1064557 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1074897-1075411 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1075412-1075925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1087280-1087789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1097469-1098084 Neighboring gene Sharpr-MPRA regulatory region 13654 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6963 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1113181-1113680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1119782-1120538 Neighboring gene SSTR5 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1121507-1122248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1128485-1129149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1132931-1133783 Neighboring gene somatostatin receptor 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6964 Neighboring gene uncharacterized LOC107984906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1157970-1158488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1167285-1167853 Neighboring gene 16p subtelomeric meiotic recombination hotspot Neighboring gene uncharacterized LOC105371042

    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 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. Human C1q Tumor Necrosis Factor 8 (CTRP8) defines a novel tryptase+ mast cell subpopulation in the prostate cancer microenvironment. Krishnan SN, et al. Biochim Biophys Acta Mol Basis Dis, 2023 Jun. PMID 36921737
    2. C1q/TNF-related peptide 8 (CTRP8) promotes temozolomide resistance in human glioblastoma. Thanasupawat T, et al. Mol Oncol, 2018 Sep. PMID 29949238, Free PMC Article
    3. C1q-tumour necrosis factor-related protein 8 (CTRP8) is a novel interaction partner of relaxin receptor RXFP1 in human brain cancer cells. Glogowska A, et al. J Pathol, 2013 Dec. PMID 24014093
    4. CTRP8 and CTRP9B are novel proteins that hetero-oligomerize with C1q/TNF family members. Peterson JM, et al. Biochem Biophys Res Commun, 2009 Oct 16. PMID 19666007
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human C1q Tumor Necrosis Factor 8 (CTRP8) defines a novel tryptase+ mast cell subpopulation in the prostate cancer microenvironment.
      Title: Human C1q Tumor Necrosis Factor 8 (CTRP8) defines a novel tryptase+ mast cell subpopulation in the prostate cancer microenvironment.
    2. This study demonstrates a novel role for CTRP8 in protecting human glioblastoma cells against the DNA alkylating damage of temozolomide, the standard chemotherapy drug used to treat glioblastoma. This DNA protective role of CTRP8 required a functional RXFP1-STAT3 signaling cascade in glioblastoma cells. CTRP8-RXFP1-STAT3 axis is an emerging new drug target for improved treatment of human glioblastoma.
      Title: C1q/TNF-related peptide 8 (CTRP8) promotes temozolomide resistance in human glioblastoma.
    3. direct interaction of human CTRP8 with RXFP1
      Title: C1q-tumour necrosis factor-related protein 8 (CTRP8) is a novel interaction partner of relaxin receptor RXFP1 in human brain cancer cells.
    4. two novel human C1q/TNF family members, designated as CTRP8 and CTRP9B were described.
      Title: CTRP8 and CTRP9B are novel proteins that hetero-oligomerize with C1q/TNF family members.
    Submit: New GeneRIF Correction

    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of cell motility IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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
    		  

    General protein information

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    Preferred Names
    complement C1q tumor necrosis factor-related protein 8
    Names
    C1q and tumor necrosis factor related protein 8
    C1q/TNF-related protein 8

    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_207419.3 → NP_997302.2  complement C1q tumor necrosis factor-related protein 8 precursor

      See identical proteins and their annotated locations for NP_997302.2

      Status: VALIDATED

      Source sequence(s)
      AC009041, AL031713
      Consensus CDS
      CCDS32358.1
      UniProtKB/Swiss-Prot
      B7U178, P60827
      UniProtKB/TrEMBL
      A0A3B0IWW5
      Related
      ENSP00000330426.5, ENST00000328449.6
      Conserved Domains (2) summary
      pfam01391
      Location:69 → 111
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:118 → 246
      C1q; C1q domain

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      1088226..1096306 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434100.1 → XP_047290056.1  complement C1q tumor necrosis factor-related protein 8 isoform X1

      UniProtKB/Swiss-Prot
      B7U178, P60827
      UniProtKB/TrEMBL
      A0A3B0IWW5

    2. XM_047434099.1 → XP_047290055.1  complement C1q tumor necrosis factor-related protein 8 isoform X1

      UniProtKB/Swiss-Prot
      B7U178, P60827
      UniProtKB/TrEMBL
      A0A3B0IWW5

    3. XM_047434101.1 → XP_047290057.1  complement C1q tumor necrosis factor-related protein 8 isoform X1

      UniProtKB/Swiss-Prot
      B7U178, P60827
      UniProtKB/TrEMBL
      A0A3B0IWW5

    RNA

    1. XR_001751901.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      1099983..1108623 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380315.1 → XP_054236290.1  complement C1q tumor necrosis factor-related protein 8 isoform X1

      UniProtKB/Swiss-Prot
      B7U178, P60827
      UniProtKB/TrEMBL
      A0A3B0IWW5

    2. XM_054380317.1 → XP_054236292.1  complement C1q tumor necrosis factor-related protein 8 isoform X1

      UniProtKB/Swiss-Prot
      B7U178, P60827
      UniProtKB/TrEMBL
      A0A3B0IWW5

    3. XM_054380316.1 → XP_054236291.1  complement C1q tumor necrosis factor-related protein 8 isoform X1

      UniProtKB/Swiss-Prot
      B7U178, P60827
      UniProtKB/TrEMBL
      A0A3B0IWW5

    RNA

    1. XR_008489089.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P60827.2 GenPept UniProtKB/Swiss-Prot:P60827

    Gene LinkOut

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

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