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CILP - cartilage intermediate layer protein Gene

Also Known as CILP-1; HsT18872

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8483

About CILP

Cytogenetic location: 15q22.31 Genomic coordinates (GRCh38): 15:65,194,760-65,211,473 (from NCBI)

This gene has 1 transcript (splice variant), 201 orthologues, 1 paralogue and is associated with 1 phenotype. Biased expression in gall bladder (RPKM 29.3), fat (RPKM 19.1) and 12 other tissues.

Summary

Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010]

CILP Products (1)

mRNA	Protein	Name
NM_003613.4	NP_003604.4	cartilage intermediate layer protein 1 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
NOT enables alkaline phosphatase activity	IDA IDA: Inferred from direct assay	12746903	GOA
NOT enables dinucleotide phosphatase activity	IDA IDA: Inferred from direct assay	12746903	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of SMAD protein signal transduction	IGI IGI: Inferred from genetic interaction	29167509	GOA
involved in negative regulation of gene expression	IDA IDA: Inferred from direct assay	29167509	GOA
involved in negative regulation of insulin-like growth factor receptor signaling pathway	IDA IDA: Inferred from direct assay	12746903	GOA
involved in negative regulation of transforming growth factor beta receptor signaling pathway	IDA IDA: Inferred from direct assay	29167509	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in collagen-containing extracellular matrix	IDA IDA: Inferred from direct assay	9722583	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	9722584	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

CILP Protein Structure

Mucin2_WxxW

TSP_1

Ig_2

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1184 a.a.

Protein Preferred Names	Protein Names
cartilage intermediate layer protein 1	cartilage intermediate layer protein 1 C1

Related Diseases

Diseases	Alias
Intervertebral Disc Disease	Lumbar Disc Disease Intervertebral Disc Disorder IDD Lumbar Disc Herniation Lumbar Disc Degeneration Intervertebral Disc Disease, Susceptibility To Lumbar Disc Herniation, Susceptibility To Lumbar Disc Disease, Susceptibility To Intervertebral Disc Degeneration Discogenic Disease Discogenic Disorder Disorder Of Intervertebral Disc Intervertebral Disk Degeneration Intervertebral Disk Disease Ldd Ldh Lumbar Disc Degeneration, Susceptibility To Degeneration Of Lumbar Intervertebral Disc Intervertebral Disk Displacement
Osteoarthritis	Osteoarthrosis Degenerative Joint Disease Hypertrophic Arthritis Arthropathy Degenerative Polyarthritis Degenerative Arthritis Osteoarthrosis And Allied Disorder Arthritis, Degenerative Oa Osteoarthritis Deformans Osteoarthrosis Deformans Kashin-Beck Disease
Uruguay Faciocardiomusculoskeletal Syndrome	FCMSU Faciocardiomusculoskeletal Syndrome, Uruguay Type Fcms Musculoskeletal Diseases
Familial Calcium Pyrophosphate Deposition	Calcium Pyrophosphate Dihydrate Crystal Deposition Disease Familial Cc Familial Cppd Familial Articular Chondrocalcinosis Hereditary Cc Hereditary Articular Chondrocalcinosis Hereditary Calcium Pyrophosphate Deposition Calcium Pyrophosphate Deposition Disease Calcium Pyrophosphate Arthropathy
Arthritis	Inflammatory Joint Disease Inflammatory Disorder Of Joint
Rheumatoid Arthritis	RA Arthritis, Rheumatoid Rheumatoid Arthritis, Susceptibility To Arthritis Or Polyarthritis, Rheumatic Atrophic Arthritis Rheumatism Arthritis Rheumatoid Polyarthritis
Bone Deterioration Disease
Degenerative Disc Disease	Intervertebral Disc Degeneration Cervical Disc Degenerative Disorder Cervical Disc Degenerative Disease Lumbar Disc Degeneration Vertebral Disc Disease Degeneration Of Lumbar Intervertebral Disc Intervertebral Disc Disorder Discogenic Disease
Bone Structure Disease

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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02716	CILP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS02715	CILP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22120	Cilp Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28642	Cilp Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CILP	VGNC	VGNC:39274
Macaca mulatta	CILP	VGNC	VGNC:71224
Felis catus	CILP	VGNC	VGNC:60903
Mus musculus	CILP	MGD	MGI:2444507
Rattus norvegicus	CILP	RGD	RGD:1305124
Bos taurus	CILP	VGNC	VGNC:55041
Others	CILP	NCBI