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

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; AllianceGenome:HGNC:14344
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: mouse all
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Genomic context

Location:: 11q23.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (119338942..119346705, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (119359579..119367342, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (119209652..119217415, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

C1QTNF5 is a novel attachment factor that facilitates the entry of influenza A virus.
Title: C1QTNF5 is a novel attachment factor that facilitates the entry of influenza A virus.
Longitudinal Changes of Retinal Structure in Molecularly Confirmed C1QTNF5 Patients With Late-Onset Retinal Degeneration.
Title: Longitudinal Changes of Retinal Structure in Molecularly Confirmed C1QTNF5 Patients With Late-Onset Retinal Degeneration.
Upregulation of IL-8, osteonectin, and myonectin mRNAs by intermittent hypoxia via OCT1- and NRF2-mediated mechanisms in skeletal muscle cells.
Title: Upregulation of IL-8, osteonectin, and myonectin mRNAs by intermittent hypoxia via OCT1- and NRF2-mediated mechanisms in skeletal muscle cells.
Increased serum myonectin and irisin levels with myonectin and FNDC5 expressions in polycystic ovary syndrome: a case control study.
Title: Increased serum myonectin and irisin levels with myonectin and FNDC5 expressions in polycystic ovary syndrome: a case control study.
Evaluation of changing the pattern of CTRP5 and inflammatory markers levels in patients with coronary artery disease and type 2 diabetes mellitus.
Title: Evaluation of changing the pattern of CTRP5 and inflammatory markers levels in patients with coronary artery disease and type 2 diabetes mellitus.
AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration.
Title: AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration.
MASSIVE ADVANCING NONEXUDATIVE TYPE 1 CHOROIDAL NEOVASCULARIZATION IN CTRP5 LATE-ONSET RETINAL DEGENERATION: Longitudinal Findings on Multimodal Imaging and Implications for Age-Related Macular Degeneration.
Title: MASSIVE ADVANCING NONEXUDATIVE TYPE 1 CHOROIDAL NEOVASCULARIZATION IN CTRP5 LATE-ONSET RETINAL DEGENERATION: Longitudinal Findings on Multimodal Imaging and Implications for Age-Related Macular Degeneration.
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene.
Title: Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene.
Association of serum and aqueous humor myonectin concentrations with diabetic retinopathy.
Title: Association of serum and aqueous humor myonectin concentrations with diabetic retinopathy.
Decreased serum myonectin concentrations in diabetic nephropathy patients.
Title: Decreased serum myonectin concentrations in diabetic nephropathy patients.

Submit: New GeneRIF Correction See all GeneRIFs (40)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Late-onset retinal degeneration MedGen: C1854065 OMIM: 605670 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S869E (e-PCR)
- UniSTS:16395

MFRP__6310 (e-PCR)
- UniSTS:464051

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 inner ear development	IEA Inferred from Electronic Annotation more info
involved_in protein secretion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in bicellular tight junction	IEA Inferred from Electronic Annotation more info
is_active_in cell projection	IBA Inferred from Biological aspect of Ancestor more info
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 lateral plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in transport vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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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

NG_012235.1 RefSeqGene

Range

4969..12732

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001278431.2 → NP_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

A6NDD3, B0YJ35, Q335M2, Q8N6P2, Q9BXJ0, Q9UFX4

UniProtKB/TrEMBL

A0A024R3F8

Related

ENSP00000431140.1, ENST00000528368.3

Conserved Domains (2) summary

pfam00386
Location:105 → 232

C1q; C1q domain

pfam01391
Location:29 → 95

Collagen; Collagen triple helix repeat (20 copies)
NM_015645.5 → NP_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

A6NDD3, B0YJ35, Q335M2, Q8N6P2, Q9BXJ0, Q9UFX4

UniProtKB/TrEMBL

A0A024R3F8

Conserved Domains (2) summary

pfam00386
Location:105 → 232

C1q; C1q domain

pfam01391
Location:29 → 95

Collagen; Collagen triple helix repeat (20 copies)