CILP (cartilage intermediate layer protein)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8483
Gene name Gene Name - the full gene name approved by the HGNC.
Cartilage intermediate layer protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CILP
Synonyms (NCBI Gene) Gene synonyms aliases
CILP-1, CILP1, HsT18872
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q22.31
Summary Summary of gene provided in NCBI Entrez Gene.
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 pr
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs2073711 A>G Risk-factor Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
miRTarBase ID miRNA Experiments Reference
MIRT2200869 hsa-miR-3125 CLIP-seq
MIRT2200870 hsa-miR-3180-5p CLIP-seq
MIRT2200871 hsa-miR-3529 CLIP-seq
MIRT2200872 hsa-miR-379 CLIP-seq
MIRT2200873 hsa-miR-3916 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0004035 Function Alkaline phosphatase activity IDA 12746903
GO:0004551 Function Nucleotide diphosphatase activity IDA 12746903
GO:0005201 Function Extracellular matrix structural constituent RCA 27068509, 27559042
GO:0005615 Component Extracellular space IDA 9722584, 12746903
GO:0010629 Process Negative regulation of gene expression IDA 29167509
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603489 1980 ENSG00000138615
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O75339
Protein name Cartilage intermediate layer protein 1 (CILP-1) (Cartilage intermediate-layer protein) [Cleaved into: Cartilage intermediate layer protein 1 C1; Cartilage intermediate layer protein 1 C2]
Protein function Probably plays a role in cartilage scaffolding. May act by antagonizing TGF-beta1 (TGFB1) and IGF1 functions. Has the ability to suppress IGF1-induced proliferation and sulfated proteoglycan synthesis, and inhibits ligand-induced IGF1R autophosp
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13330 Mucin2_WxxW 56 → 139 Mucin-2 protein WxxW repeating region Family
PF00090 TSP_1 153 → 200 Thrombospondin type 1 domain Domain
PF13927 Ig_3 308 → 380 Domain
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in cartilage. Localizes in the intermediates layer of articular cartilage but neither in the superficial nor in the deepest regions. Specifically and highly expressed in intervertebral disk tissue. Expression inc
Sequence 
MVGTKAWVFSFLVLEVTSVLGRQTMLTQSVRRVQPGKKNPSIFAKPADTLESPGEWTTWF
NIDYPGGKGDYERLDAIRFYYGDRVCARPLRLEARTTDWTPAGSTGQVVHGSPREGFWCL
NREQRPGQNCSNYTVRFLCPPGSLRRDTERIWSPWSPWSKCSAACGQTGVQTRTRICLAE
MVSLCSEASEEGQHCMGQDCTACDLTCPMGQVNADCDACMCQDFMLHGAVSLPGGAPASG
AAIYLLTKTPKLLTQTDSDGRFRIPGLCPDGKSILKITKVKFAPIVLTMPKTSLKAATIK
AEFVRAETPYMVMNPETKARRAGQSVSLCCKATGKPRPDKYFWYHNDTLLDPSLYKHESK
LVLRKLQQHQAGEYFCKAQSDAGAVKSKVAQLIVIASDETPCNPVPESYLIRLPHDCFQN
ATNSFYYDVGRCPVKTCAGQQDNGIRCRDAVQNCCGISKTEEREIQCSGYTLPTKVAKEC
SCQRCTETRSIVRGRVSAADNGEPMRFGHVYMGNSRVSMTGYKGTFTLHVPQDTERLVLT
FVDRLQKFVNTTKVLPFNKKGSAVFHEIKMLRRKKPITLEAMETNIIPLGEVVGEDPMAE
LEIPSRSFYRQNGEPYIGKVKASVTFLDPRNISTATAAQTDLNFINDEGDTFPLRTYGMF
SVDFRDEVTSEPLNAGKVKVHLDSTQVKMPEHISTVKLWSLNPDTGLWEEEGDFKFENQR
RNKREDRTFLVGNLEIRERRLFNLDVPESRRCFVKVRAYRSERFLPSEQIQGVVISVINL
EPRTGFLSNPRAWGRFDSVITGPNGACVPAFCDDQSPDAYSAYVLASLAGEELQAVESSP
KFNPNAIGVPQPYLNKLNYRRTDHEDPRVKKTAFQISMAKPRPNSAEESNGPIYAFENLR
ACEEAPPSAAHFRFYQIEGDRYDYNTVPFNEDDPMSWTEDYLAWWPKPMEFRACYIKVKI
VGPLEVNVRSRNMGGTHRQTVGKLYGIRDVRSTRDRDQPNVSAACLEFKCSGMLYDQDRV
DRTLVKVIPQGSCRRASVNPMLHEYLVNHLPLAVNNDTSEYTMLAPLDPLGHNYGIYTVT
DQDPRTAKEIALGRCFDGTSDGSSRIMKSNVGVALTFNCVERQVGRQSAFQYLQSTPAQS
PAAGTVQGRVPSRRQQRASRGGQRQGGVVASLRFPRVAQQPLIN
Sequence length 1184
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Narcolepsy Narcolepsy rs104894574, rs387906655 19629137
Show/Hide Text Mining Associations (16)
Associations from Text Mining
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 15146421
Cardiomyopathies Associate 33016206
Chondrocalcinosis Associate 10524685
Chondrocalcinosis 2 Associate 12483726
Esophageal Squamous Cell Carcinoma Associate 35899307
Heart Failure Associate 33016206
Intervertebral Disc Degeneration Associate 22107760
Intervertebral Disc Degeneration Stimulate 34233701
Nerve Degeneration Stimulate 26463451
Nerve Degeneration Associate 34233701