• Gene id: 8483

Gene Summary

• Gene Symbol: CILP   Gene   UCSC   Ensembl
• Aliases: CILP-1, HsT18872
• Gene name: cartilage intermediate layer protein
• Alternate names: cartilage intermediate layer protein 1, cartilage intermediate layer protein 1 C1, cartilage intermediate layer protein 1 C2, cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,
• Gene location: 15q22.31 (65213141: 65194759)     Exons: 10     NC_000015.10
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: O75339  
  • 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]
  • Length: 1184  
  • Mass: 132565
  • 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:

  MVGTKAWVFSFLVLEVTSVLGRQTMLTQSVRRVQPGKKNPSIFAKPADTLESPGEWTTWFNIDYPGGKGDYERLD
  AIRFYYGDRVCARPLRLEARTTDWTPAGSTGQVVHGSPREGFWCLNREQRPGQNCSNYTVRFLCPPGSLRRDTER
  IWSPWSPWSKCSAACGQTGVQTRTRICLAEMVSLCSEASEEGQHCMGQDCTACDLTCPMGQVNADCDACMCQDFM
  LHGAVSLPGGAPASGAAIYLLTKTPKLLTQTDSDGRFRIPGLCPDGKSILKITKVKFAPIVLTMPKTSLKAATIK
  AEFVRAETPYMVMNPETKARRAGQSVSLCCKATGKPRPDKYFWYHNDTLLDPSLYKHESKLVLRKLQQHQAGEYF
  CKAQSDAGAVKSKVAQLIVIASDETPCNPVPESYLIRLPHDCFQNATNSFYYDVGRCPVKTCAGQQDNGIRCRDA
  VQNCCGISKTEEREIQCSGYTLPTKVAKECSCQRCTETRSIVRGRVSAADNGEPMRFGHVYMGNSRVSMTGYKGT
  FTLHVPQDTERLVLTFVDRLQKFVNTTKVLPFNKKGSAVFHEIKMLRRKKPITLEAMETNIIPLGEVVGEDPMAE
  LEIPSRSFYRQNGEPYIGKVKASVTFLDPRNISTATAAQTDLNFINDEGDTFPLRTYGMFSVDFRDEVTSEPLNA
  GKVKVHLDSTQVKMPEHISTVKLWSLNPDTGLWEEEGDFKFENQRRNKREDRTFLVGNLEIRERRLFNLDVPESR
  RCFVKVRAYRSERFLPSEQIQGVVISVINLEPRTGFLSNPRAWGRFDSVITGPNGACVPAFCDDQSPDAYSAYVL
  ASLAGEELQAVESSPKFNPNAIGVPQPYLNKLNYRRTDHEDPRVKKTAFQISMAKPRPNSAEESNGPIYAFENLR
  ACEEAPPSAAHFRFYQIEGDRYDYNTVPFNEDDPMSWTEDYLAWWPKPMEFRACYIKVKIVGPLEVNVRSRNMGG
  THRQTVGKLYGIRDVRSTRDRDQPNVSAACLEFKCSGMLYDQDRVDRTLVKVIPQGSCRRASVNPMLHEYLVNHL
  PLAVNNDTSEYTMLAPLDPLGHNYGIYTVTDQDPRTAKEIALGRCFDGTSDGSSRIMKSNVGVALTFNCVERQVG
  RQSAFQYLQSTPAQSPAAGTVQGRVPSRRQQRASRGGQRQGGVVASLRFPRVAQQPLIN

• Structural information:
  • Protein Domains: (149..20-)
    (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (309..39-)
    (/note="Ig-like-C2-type")
  • Interpro: IPR008969  IPR039675  IPR007110  IPR036179  IPR013783   IPR003599  IPR003598  IPR000884  IPR036383  IPR025155  
  • Prosite: PS50835 PS50092
  • STRING: ENSP00000261883
• Other Databases: GeneCards:  CILP  Malacards:  CILP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0004035	alkaline phosphatase activity	IDA	NOT|molecular function
GO:0004551	nucleotide diphosphatase activity	IDA	NOT|molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0062023	collagen-containing extracellular matrix	IDA	cellular component
GO:0043569	negative regulation of insulin-like growth factor receptor signaling pathway	IDA	biological process
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0071560	cellular response to transforming growth factor beta stimulus	IDA	biological process
GO:0010629	negative regulation of gene expression	IDA	biological process
GO:0010629	negative regulation of gene expression	IDA	biological process
GO:0060392	negative regulation of SMAD protein signal transduction	IGI	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0016311	dephosphorylation	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Osteoarthritis	PMID:15334463
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray