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    C1QL1 complement C1q like 1 [ Homo sapiens (human) ]

    Gene ID: 10882, updated on 9-Dec-2024

    Summary

    Official Symbol
    C1QL1provided by HGNC
    Official Full Name
    complement C1q like 1provided by HGNC
    Primary source
    HGNC:HGNC:24182
    See related
    Ensembl:ENSG00000131094 MIM:611586; AllianceGenome:HGNC:24182
    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
    CRF; C1QRF; CTRP14; C1QTNF14
    Summary
    Predicted to enable signaling receptor binding activity. Predicted to be involved in regulation of synapse pruning. Predicted to act upstream of or within maintenance of synapse structure; motor learning; and neuron remodeling. Predicted to be located in several cellular components, including climbing fiber; extracellular region; and presynapse. Predicted to be part of collagen trimer. Predicted to be active in cerebellar climbing fiber to Purkinje cell synapse and synaptic cleft. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 10.8), kidney (RPKM 1.7) and 4 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See C1QL1 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44959693..44968303, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45813611..45822225, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (43037061..43045671, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371793 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42997401-42997900 Neighboring gene kinesin family member 18B Neighboring gene microRNA 6783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12267 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:43025111-43025630 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:43031038-43031303 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43039086-43039586 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8604 Neighboring gene basic proline-rich protein-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8605 Neighboring gene uncharacterized LOC107987243 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43074788-43075540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43080963-43081726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43083016-43083972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43085503-43086003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43089992-43090778

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in locomotory behavior NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in maintenance of synapse structure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in motor learning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of synapse pruning IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cerebellar climbing fiber to Purkinje cell synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in climbing fiber IEA
    Inferred from Electronic Annotation
    more info
     
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in synaptic cleft IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    C1q-related factor
    Names
    C1q and tumor necrosis factor-related protein 14
    C1q/TNF-related protein 14
    complement component 1, q subcomponent-like 1

    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_006688.5NP_006679.1  C1q-related factor precursor

      See identical proteins and their annotated locations for NP_006679.1

      Status: VALIDATED

      Source sequence(s)
      AC015936, BC008798
      Consensus CDS
      CCDS11492.1
      UniProtKB/Swiss-Prot
      O75973
      Related
      ENSP00000253407.2, ENST00000253407.4
      Conserved Domains (1) summary
      pfam00386
      Location:131255
      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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      44959693..44968303 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      45813611..45822225 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)