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C1QTNF5 C1q and TNF related 5 [ Homo sapiens (human) ]

Gene ID: 114902, updated on 16-Aug-2021

Summary

Official Symbol
C1QTNF5provided by HGNC
Official Full Name
C1q and TNF related 5provided by HGNC
Primary source
HGNC:HGNC:14344
See related
Ensembl:ENSG00000223953 MIM:608752
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MFRP; CTRP5
Summary
This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013]
Expression
Broad expression in gall bladder (RPKM 9.2), fat (RPKM 6.7) and 20 other tissues See more
Orthologs
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Genomic context

See C1QTNF5 in Genome Data Viewer
Location:
11q23.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (119338942..119346705, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (119209652..119217415, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene microRNA 6756 Neighboring gene melanoma cell adhesion molecule Neighboring gene ring finger protein 26 Neighboring gene membrane frizzled-related protein Neighboring gene HNF4 motif-containing MPRA enhancer 223 Neighboring gene ubiquitin specific peptidase 2 Neighboring gene USP2 antisense RNA 1 (head to head) Neighboring gene major facilitator superfamily domain containing 14B pseudogene

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
Tat tat Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides downregulate gene expression of C1q and tumor necrosis factor related protein 5 (C1QTNF5) in U-937 macrophages PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30570, DKFZp586B0621

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in cell projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
complement C1q tumor necrosis factor-related protein 5
Names
C1q TNF-alpha-related protein 5
C1q and tumor necrosis factor related protein 5
Membrane frizzled-related protein
myonectin

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.

Genomic

  1. NG_012235.1 RefSeqGene

    Range
    4969..12732
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278431.2NP_001265360.1  complement C1q tumor necrosis factor-related protein 5 precursor

    See identical proteins and their annotated locations for NP_001265360.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks multiple 5' exons and represents use of an internal promoter, compared to variant 1. This variant is a monocistronic transcript that only encodes the C1QTNF5 protein. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AY358383, BC029485
    Consensus CDS
    CCDS8420.1
    UniProtKB/Swiss-Prot
    Q9BXJ0
    UniProtKB/TrEMBL
    A0A024R3F8
    Related
    ENSP00000431140.1, ENST00000528368.3
    Conserved Domains (2) summary
    pfam00386
    Location:105232
    C1q; C1q domain
    pfam01391
    Location:2995
    Collagen; Collagen triple helix repeat (20 copies)
  2. NM_015645.5NP_056460.1  complement C1q tumor necrosis factor-related protein 5 precursor

    See identical proteins and their annotated locations for NP_056460.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer bicistronic transcript, which can encode both the C1QTNF5 and MFRP proteins; the C1QTNF5 protein is represented in this RefSeq. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AP003396
    Consensus CDS
    CCDS8420.1
    UniProtKB/Swiss-Prot
    Q9BXJ0
    UniProtKB/TrEMBL
    A0A024R3F8
    Conserved Domains (2) summary
    pfam00386
    Location:105232
    C1q; C1q domain
    pfam01391
    Location:2995
    Collagen; Collagen triple helix repeat (20 copies)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    119338942..119346705 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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