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    C1QTNF1 C1q and TNF related 1 [ Homo sapiens (human) ]

    Gene ID: 114897, updated on 3-Dec-2024

    Summary

    Official Symbol
    C1QTNF1provided by HGNC
    Official Full Name
    C1q and TNF related 1provided by HGNC
    Primary source
    HGNC:HGNC:14324
    See related
    Ensembl:ENSG00000173918 MIM:610365; AllianceGenome:HGNC:14324
    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
    GIP; CTRP1; ZSIG37
    Summary
    Enables collagen binding activity. Involved in several processes, including negative regulation of platelet aggregation; positive regulation of aldosterone secretion; and positive regulation of cytosolic calcium ion concentration. Located in extracellular space and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in fat (RPKM 33.8), placenta (RPKM 15.4) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See C1QTNF1 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (79022934..79049788)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (79917861..79944721)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (77019016..77045870)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76972258-76972941 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76976039-76977031 Neighboring gene galectin 3 binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9078 Neighboring gene C1QTNF1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77040047-77040547 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:77042736-77043935 Neighboring gene calcium activated nucleotidase 1 Neighboring gene Sharpr-MPRA regulatory region 5335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77094193-77094906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77099175-77100160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77112846-77113750 Neighboring gene endo-beta-N-acetylglucosaminidase Neighboring gene RNA binding fox-1 homolog 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77157651-77158151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77173286-77173965 Neighboring gene uncharacterized LOC124904069 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77179359-77180239

    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
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of C1q and tumor necrosis factor related protein 1 (C1QTNF1) in peptide-treated PBMCs PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ90694

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables collagen binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    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
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    complement C1q tumor necrosis factor-related protein 1
    Names
    C1q and tumor necrosis factor related protein 1
    G protein coupled receptor interacting protein
    g protein-coupled receptor-interacting protein

    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_030968.5NP_112230.1  complement C1q tumor necrosis factor-related protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_112230.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AC073624, AY358424
      Consensus CDS
      CCDS11761.1
      UniProtKB/Swiss-Prot
      Q6ZMH6, Q96NF2, Q9BXJ1, Q9GZR4
      UniProtKB/TrEMBL
      A8K7L9
      Related
      ENSP00000463922.1, ENST00000579760.6
      Conserved Domains (2) summary
      pfam01391
      Location:99140
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:147275
      C1q; C1q domain
    2. NM_153372.3NP_699203.1  complement C1q tumor necrosis factor-related protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_699203.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and represents the use of an alternate promoter, compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AC073624, AY358424, DA877694
      Consensus CDS
      CCDS11761.1
      UniProtKB/Swiss-Prot
      Q6ZMH6, Q96NF2, Q9BXJ1, Q9GZR4
      UniProtKB/TrEMBL
      A8K7L9
      Related
      ENSP00000343230.4, ENST00000354124.7
      Conserved Domains (2) summary
      pfam01391
      Location:99140
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:147275
      C1q; C1q domain
    3. NM_198593.4NP_940995.1  complement C1q tumor necrosis factor-related protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_940995.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and represents the use of an alternate promoter, compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AY358424, DB126803
      Consensus CDS
      CCDS11761.1
      UniProtKB/Swiss-Prot
      Q6ZMH6, Q96NF2, Q9BXJ1, Q9GZR4
      UniProtKB/TrEMBL
      A8K7L9
      Related
      ENSP00000462481.2, ENST00000581774.5
      Conserved Domains (2) summary
      pfam01391
      Location:99140
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:147275
      C1q; C1q domain
    4. NM_198594.4NP_940996.1  complement C1q tumor necrosis factor-related protein 1 isoform 2

      See identical proteins and their annotated locations for NP_940996.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an exon in the 5' coding region, compared to variant 1, which results in the use of an in-frame downstream start codon. This variant encodes a protein (isoform 2) with a shorter N-terminus that is predicted to lack a signal peptide, compared to isoform 1.
      Source sequence(s)
      AY358424, BC021553, DA938689, HY047084
      Consensus CDS
      CCDS11762.1
      UniProtKB/TrEMBL
      A0A0C4DFP7
      Related
      ENSP00000311265.4, ENST00000311661.4
      Conserved Domains (2) summary
      pfam01391
      Location:1758
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:65193
      C1q; C1q domain

    RNA

    1. NR_049769.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and represents the use of an alternate promoter, compared to variant 1. It is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC073624, AK292034, AY358424, DA875119

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      79022934..79049788
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435297.1XP_047291253.1  complement C1q tumor necrosis factor-related protein 1 isoform X4

      UniProtKB/Swiss-Prot
      Q6ZMH6, Q96NF2, Q9BXJ1, Q9GZR4
      UniProtKB/TrEMBL
      A8K7L9
    2. XM_047435296.1XP_047291252.1  complement C1q tumor necrosis factor-related protein 1 isoform X2

      UniProtKB/TrEMBL
      A8K7L9
    3. XM_006721664.2XP_006721727.1  complement C1q tumor necrosis factor-related protein 1 isoform X3

      UniProtKB/TrEMBL
      A8K7L9
      Conserved Domains (2) summary
      pfam01391
      Location:148189
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:196324
      C1q; C1q domain
    4. XM_024450561.2XP_024306329.1  complement C1q tumor necrosis factor-related protein 1 isoform X4

      UniProtKB/Swiss-Prot
      Q6ZMH6, Q96NF2, Q9BXJ1, Q9GZR4
      UniProtKB/TrEMBL
      A8K7L9
      Conserved Domains (2) summary
      pfam01391
      Location:99140
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:147275
      C1q; C1q domain
    5. XM_047435295.1XP_047291251.1  complement C1q tumor necrosis factor-related protein 1 isoform X2

      UniProtKB/TrEMBL
      A8K7L9
    6. XM_006721666.2XP_006721729.1  complement C1q tumor necrosis factor-related protein 1 isoform X2

      See identical proteins and their annotated locations for XP_006721729.1

      UniProtKB/TrEMBL
      A8K7L9
      Conserved Domains (2) summary
      pfam01391
      Location:109150
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:157285
      C1q; C1q domain
    7. XM_006721663.1XP_006721726.1  complement C1q tumor necrosis factor-related protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006721726.1

      UniProtKB/TrEMBL
      A0A3B0J271
      Conserved Domains (2) summary
      pfam01391
      Location:197238
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:245373
      C1q; C1q domain
    8. XM_017024126.1XP_016879615.1  complement C1q tumor necrosis factor-related protein 1 isoform X5

      UniProtKB/TrEMBL
      A0A0C4DFP7
      Conserved Domains (2) summary
      pfam01391
      Location:1758
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:65193
      C1q; C1q domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      79917861..79944721
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314952.1XP_054170927.1  complement C1q tumor necrosis factor-related protein 1 isoform X4

      UniProtKB/Swiss-Prot
      Q6ZMH6, Q96NF2, Q9BXJ1, Q9GZR4
      UniProtKB/TrEMBL
      A8K7L9
    2. XM_054314951.1XP_054170926.1  complement C1q tumor necrosis factor-related protein 1 isoform X2

      UniProtKB/TrEMBL
      A8K7L9
    3. XM_054314949.1XP_054170924.1  complement C1q tumor necrosis factor-related protein 1 isoform X3

      UniProtKB/TrEMBL
      A8K7L9
    4. XM_054314953.1XP_054170928.1  complement C1q tumor necrosis factor-related protein 1 isoform X4

      UniProtKB/Swiss-Prot
      Q6ZMH6, Q96NF2, Q9BXJ1, Q9GZR4
      UniProtKB/TrEMBL
      A8K7L9
    5. XM_054314950.1XP_054170925.1  complement C1q tumor necrosis factor-related protein 1 isoform X2

      UniProtKB/TrEMBL
      A8K7L9
    6. XM_054314948.1XP_054170923.1  complement C1q tumor necrosis factor-related protein 1 isoform X2

      UniProtKB/TrEMBL
      A8K7L9
    7. XM_054314947.1XP_054170922.1  complement C1q tumor necrosis factor-related protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A3B0J271
    8. XM_054314954.1XP_054170929.1  complement C1q tumor necrosis factor-related protein 1 isoform X5

      UniProtKB/TrEMBL
      A0A0C4DFP7