C1QTNF5 - C1q and TNF related 5 Gene

Homo sapiens

Also known as MFRP; CTRP5

Gene ID: 114902 | Gene type: protein coding

About C1QTNF5

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:119,338,942-119,346,705 (from NCBI)

This gene has 4 transcripts (splice variants), 188 orthologues, 23 paralogues and is associated with 3 phenotypes. Broad expression in gall bladder (RPKM 9.2), fat (RPKM 6.7) and 20 other tissues.

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]

C1QTNF5 Products(2)

mRNA	Protein	Name
NM_001278431.2	NP_001265360.1	complement C1q tumor necrosis factor-related protein 5 precursor
NM_015645.5	NP_056460.1	complement C1q tumor necrosis factor-related protein 5 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	16600989	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16600989	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

C1QTNF5 Protein Structure

Collagen

C1q

0
100
200
243 a.a.

Protein Preferred Names

Protein Names

complement C1q tumor necrosis factor-related protein 5

C1q TNF-alpha-related protein 5

C1QTNF5 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	C1QTNF5	Q9BXJ0	MFRP	Homo sapiens	Q9BY79	Anti Bait CoIP	17122143
Intra	C1QTNF5	Q9BXJ0	C1QTNF5	Homo sapiens	Q9BXJ0	X-Ray Diffraction	24531000
Intra	C1QTNF5	Q9BXJ0	C1QTNF5	Homo sapiens	Q9BXJ0	GMS	24531000
Intra	C1QTNF5	Q9BXJ0	MFRP	Homo sapiens	Q9BY79	Pull Down	24531000

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Late-Onset Retinal Degeneration

LORD	Retinal Degeneration, Late-Onset, Autosomal Dominant
Autosomal Dominant Late-Onset Retinal Degeneration	Pigmentary Retinopathy
Retinal Degeneration, Late-Onset	Retinitis Pigmentosa

Microphthalmia, Isolated 5

Isolated Microphthalmia 5	MCOP5
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen	Microphthalmia-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome
Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disc Drusen	Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome
Microphthalmia, Isolated, 5	Microphthalmia Mfrp-Related
Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disk Drusen	Microphthalmia, Isolated, Type 5

Nanophthalmos 2

NNO2	Nanophthalmia 2
Nanophthalmos, Autosomal Recessive	Nanophthalmos, Type 2

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Retinal Degeneration

Degeneration Of Retina

Nanophthalmos

Nanophthalmia

Night Blindness

Nyctalopia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01731	C1QTNF5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	C1QTNF5	VGNC	VGNC:107432
Rattus norvegicus	C1QTNF5	RGD	RGD:1308802
Canis familiaris	C1QTNF5	VGNC	VGNC:56006
Mus musculus	C1QTNF5	MGD	MGI:2385958
Felis catus	C1QTNF5	VGNC	VGNC:60223
Bos taurus	C1QTNF5	VGNC	VGNC:26625

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