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

Gene ID: 338872, updated on 16-Apr-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, Apr 2022]
Expression
Broad expression in testis (RPKM 1.7), heart (RPKM 1.5) and 21 other tissues See more
Orthologs
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Genomic context

Location:
13q12.12
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (24307166..24322531)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (23514260..23529607)
105.20220307 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
  • 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)

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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_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_2023_10

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)