C1QTNF5 - C1q and TNF related 5 Gene

Also Known as MFRP; CTRP5

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 114902

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	参考文献	由来
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	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
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

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS01731	C1QTNF5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	C1QTNF5	NCBI