C1qtnf5 C1q and tumor necrosis factor related protein 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: C1qtnf5provided by MGI
Official Full Name: C1q and tumor necrosis factor related protein 5provided by MGI
Primary source: MGI:MGI:2385958
See related: Ensembl:ENSMUSG00000079592 AllianceGenome:MGI:2385958
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Adie; Mfrp; Ctrp5
Summary: The protein encoded by this gene is a member of the C1q/tumor necrosis factor superfamily. This family member is a secretory protein that functions in eye development. Mutations in this gene are thought to underlie the pathophysiology of late-onset retinal degeneration (L-ORD) and early-onset long anterior zonules (LAZ). Bicistronic transcripts composed of the coding sequences for this gene (C1qtnf5) and the membrane-type frizzled-related protein gene (Mfrp) have been identified, and the resulting products can interact with each other. Co-transcription of C1qtnf5 and Mfrp has been observed in both human and mouse. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
Expression: Biased expression in genital fat pad adult (RPKM 22.4), adrenal adult (RPKM 3.8) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 A5.1; 9 24.62 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (44013067..44020484)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (44101770..44109187)

Chromosome 9 - NC_000075.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

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.
A Novel Mouse Model for Late-Onset Retinal Degeneration (L-ORD) Develops RPE Abnormalities Due to the Loss of C1qtnf5/Ctrp5.
Title: A Novel Mouse Model for Late-Onset Retinal Degeneration (L-ORD) Develops RPE Abnormalities Due to the Loss of C1qtnf5/Ctrp5.
C1q/TNF-related protein 5 contributes to diabetic vascular endothelium dysfunction through promoting Nox-1 signaling.
Title: C1q/TNF-related protein 5 contributes to diabetic vascular endothelium dysfunction through promoting Nox-1 signaling.
CTRP5 is a negative regulator of adipose browning. CTRP5 exerts its effect, at least in part, by suppressing adipocyte autophagy.
Title: The novel adipokine CTRP5 is a negative regulator of white adipose tissue browning.
pathological effects of S163R mutation expression in retinal pigment epithelium
Title: Pathological Effects of Mutant C1QTNF5 (S163R) Expression in Murine Retinal Pigment Epithelium.
Presence of rd8 (Crb1) mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model carrying the Ctrp5 mutation.
Title: Presence of rd8 mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model.
CTRP-5 is functionally involved in adipocyte biology.
Title: Regulation and function of C1Q/TNF-related protein-5 (CTRP-5) in the context of adipocyte biology.
Ets-2 play a key role in transcriptional regulation of CTRP5 in muscle cells.
Title: Ets-2 is involved in transcriptional regulation of C1qTNF-related protein 5 in muscle cells.
CTRP5, a secretory and membrane-associated protein, is localized to the lateral and apical membranes of the RPE and CB. Impaired secretion of the mutant protein may underlie the pathophysiology of long anterior zonules and late-onset retinal degeneration.
Title: CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion.
L-ORMD is due to insufficient levels of secreted C1QTNF5, compromised RPE cell function resulting from ER retention of the mutant protein or both mechanisms.
Title: Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (1)
Targeted (4) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within inner ear development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell projection	IBA Inferred from Biological aspect of Ancestor more info
located_in cell projection	IDA Inferred from Direct Assay more info	PubMed
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in transport vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: complement C1q tumor necrosis factor-related protein 5

Names: Membrane frizzled-related protein; adiponectin e

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)

NM_001040631.2 → NP_001035721.1 complement C1q tumor necrosis factor-related protein 5 precursor

See identical proteins and their annotated locations for NP_001035721.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. This variant is represented as monocistronic and may not be 5'-complete; it is unclear if it exists in bicistronic form with the Mfrp ORF, or if it is derived from an internal promoter. Variants 1-5 encode the same C1qtnf5 protein.

Source sequence(s)

AC148328, AW490764, BE861753, DQ002398

Consensus CDS

CCDS52777.1

UniProtKB/Swiss-Prot

Q8K479

UniProtKB/TrEMBL

F8WHS3, Q4ZJN4, Q8R002

Related

ENSMUSP00000110464.2, ENSMUST00000114816.8

Conserved Domains (2) summary

pfam01391
Location:29 → 95

Collagen; Collagen triple helix repeat (20 copies)

pfam00386
Location:105 → 232

C1q; C1q domain
NM_001040632.2 → NP_001035722.1 complement C1q tumor necrosis factor-related protein 5 precursor

See identical proteins and their annotated locations for NP_001035722.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. This variant is represented as monocistronic and may not be 5'-complete; it is unclear if it exists in bicistronic form with the Mfrp ORF, or if it is derived from an internal promoter. Variants 1-5 encode the same C1qtnf5 protein.

Source sequence(s)

AC148328, AW490764, BE861753, CX201109

Consensus CDS

CCDS52777.1

UniProtKB/Swiss-Prot

Q8K479

UniProtKB/TrEMBL

F8WHS3, Q4ZJN4, Q8R002

Related

ENSMUSP00000110469.4, ENSMUST00000114821.9

Conserved Domains (2) summary

pfam01391
Location:29 → 95

Collagen; Collagen triple helix repeat (20 copies)

pfam00386
Location:105 → 232

C1q; C1q domain
NM_001190313.1 → NP_001177242.1 complement C1q tumor necrosis factor-related protein 5 precursor

See identical proteins and their annotated locations for NP_001177242.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. This variant is a bicistronic transcript that can encode the C1qtnf5 and Mfrp products; the C1qtnf5 protein is represented in this RefSeq. Variants 1-5 encode the same C1qtnf5 protein.

Source sequence(s)

AC148328, AF469650, AK053629

Consensus CDS

CCDS52777.1

UniProtKB/Swiss-Prot

Q8K479

UniProtKB/TrEMBL

F8WHS3, Q4ZJN4, Q8R002

Conserved Domains (2) summary

pfam01391
Location:29 → 95

Collagen; Collagen triple helix repeat (20 copies)

pfam00386
Location:105 → 232

C1q; C1q domain
NM_001190319.1 → NP_001177248.1 complement C1q tumor necrosis factor-related protein 5 precursor

See identical proteins and their annotated locations for NP_001177248.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. This variant is represented as monocistronic and may not be 5'-complete; it is unclear if it exists in bicistronic form with the Mfrp ORF, or if it is derived from an internal promoter. Variants 1-5 encode the same C1qtnf5 protein.

Source sequence(s)

AW490764, BE861753, CK626457

Consensus CDS

CCDS52777.1

UniProtKB/Swiss-Prot

Q8K479

UniProtKB/TrEMBL

F8WHS3, Q4ZJN4, Q8R002

Conserved Domains (2) summary

pfam01391
Location:29 → 95

Collagen; Collagen triple helix repeat (20 copies)

pfam00386
Location:105 → 232

C1q; C1q domain
NM_145613.4 → NP_663588.2 complement C1q tumor necrosis factor-related protein 5 precursor

See identical proteins and their annotated locations for NP_663588.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. This variant is a bicistronic transcript that can encode the C1qtnf5 and Mfrp products; the C1qtnf5 protein is represented in this RefSeq. Variants 1-5 encode the same C1qtnf5 protein.

Source sequence(s)

AF469650, AK053629

Consensus CDS

CCDS52777.1

UniProtKB/Swiss-Prot

Q8K479

UniProtKB/TrEMBL

F8WHS3, Q4ZJN4, Q8R002

Conserved Domains (2) summary

pfam01391
Location:29 → 95

Collagen; Collagen triple helix repeat (20 copies)

pfam00386
Location:105 → 232

C1q; C1q domain