CILP - cartilage intermediate layer protein Gene

Homo sapiens

Also known as CILP-1; HsT18872

Gene ID: 8483 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

0
200
400
600
800
1000
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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02715	CILP Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS02716	CILP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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