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    C1QTNF9 C1q and TNF related 9 [ Homo sapiens (human) ]

    Gene ID: 338872, updated on 28-Oct-2024

    Summary

    Official Symbol
    C1QTNF9provided by HGNC
    Official Full Name
    C1q and TNF related 9provided by HGNC
    Primary source
    HGNC:HGNC:28732
    See related
    Ensembl:ENSG00000240654 MIM:614285; AllianceGenome:HGNC:28732
    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
    AQL1; CTRP9; C1QTNF9A
    Summary
    Enables identical protein binding activity. Predicted to be involved in signal transduction. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in testis (RPKM 1.7), heart (RPKM 1.5) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See C1QTNF9 in Genome Data Viewer
    Location:
    13q12.12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (24307166..24322531)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (23514260..23529607)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (24881304..24896669)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene spermatogenesis associated 13 Neighboring gene microRNA 2276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7470 Neighboring gene Sharpr-MPRA regulatory region 10151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:24797397-24798253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:24799112-24799968 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:24822035-24822534 Neighboring gene conserved acetylation island sequence 9 enhancer Neighboring gene SPATA13 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5177 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:24855531-24856030 Neighboring gene cell cycle exit and neuronal differentiation protein 1-like Neighboring gene long intergenic non-protein coding RNA 566 Neighboring gene PCOTH pseudogene 1 Neighboring gene cell cycle exit and neuronal differentiation 1 pseudogene 2 Neighboring gene NUS1 pseudogene 3

    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

    Clone Names

    • MGC48915

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    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 signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    complement C1q and tumor necrosis factor-related protein 9A
    Names
    C1q and tumor necrosis factor related protein 9
    complement C1q and tumor necrosis factor-related protein 9
    complement C1q tumor necrosis factor-related protein 9
    complement C1q tumor necrosis factor-related protein 9A

    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_001303137.2NP_001290066.1  complement C1q and tumor necrosis factor-related protein 9A precursor

      See identical proteins and their annotated locations for NP_001290066.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 all encode the same protein.
      Source sequence(s)
      AL359736, BC040438, BI767787, BQ882976
      Consensus CDS
      CCDS9306.1
      UniProtKB/Swiss-Prot
      A2A3T6, P0C862, Q0VGC5, Q5VX65, Q5VX66, Q8IUU4
      UniProtKB/TrEMBL
      A0A3B0ISS0, A0A3B0J259
      Conserved Domains (2) summary
      PHA03169
      Location:41176
      PHA03169; hypothetical protein; Provisional
      pfam00386
      Location:203329
      C1q; C1q domain
    2. NM_001303138.2NP_001290067.1  complement C1q and tumor necrosis factor-related protein 9A precursor

      See identical proteins and their annotated locations for NP_001290067.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate first exon in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same protein.
      Source sequence(s)
      AL359736, BC040438, BI767787
      Consensus CDS
      CCDS9306.1
      UniProtKB/Swiss-Prot
      A2A3T6, P0C862, Q0VGC5, Q5VX65, Q5VX66, Q8IUU4
      UniProtKB/TrEMBL
      A0A3B0ISS0, A0A3B0J259
      Related
      ENSP00000371503.2, ENST00000382071.6
      Conserved Domains (2) summary
      PHA03169
      Location:41176
      PHA03169; hypothetical protein; Provisional
      pfam00386
      Location:203329
      C1q; C1q domain
    3. NM_178540.5NP_848635.2  complement C1q and tumor necrosis factor-related protein 9A precursor

      See identical proteins and their annotated locations for NP_848635.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same protein.
      Source sequence(s)
      AL359736, BC040438, BI767787
      Consensus CDS
      CCDS9306.1
      UniProtKB/Swiss-Prot
      A2A3T6, P0C862, Q0VGC5, Q5VX65, Q5VX66, Q8IUU4
      UniProtKB/TrEMBL
      A0A3B0ISS0, A0A3B0J259
      Related
      ENSP00000333737.4, ENST00000332018.5
      Conserved Domains (2) summary
      PHA03169
      Location:41176
      PHA03169; hypothetical protein; Provisional
      pfam00386
      Location:203329
      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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      24307166..24322531
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      23514260..23529607
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)