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Protein

Cartilage intermediate layer protein 1

Gene

CILP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 autophosphorylation. May inhibit TGFB1-mediated induction of cartilage matrix genes via its interaction with TGFB1. Overexpression may lead to impair chondrocyte growth and matrix repair and indirectly promote inorganic pyrophosphate (PPi) supersaturation in aging and osteoarthritis cartilage.2 Publications

Miscellaneous

Antibodies against CILP are detected in patients with early-stage knee osteoarthritis and rheumatoid arthritis.

Caution

Was originally thought to constitute the ATP pyrophosphatase enzyme (NTPPH). However, it was later shown (PubMed:12746903 and PubMed:15864306) that it is not the case.Curated

GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-2404192 Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)

Names & Taxonomyi

Protein namesi
Recommended name:
Cartilage intermediate layer protein 1
Short name:
CILP-1
Alternative name(s):
Cartilage intermediate-layer protein
Cleaved into the following 2 chains:
Gene namesi
Name:CILP
ORF Names:UNQ602/PRO1188
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000138615.5
HGNCiHGNC:1980 CILP
MIMi603489 gene
neXtProtiNX_O75339

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Intervertebral disc disease (IDD)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.1 Publication
Disease descriptionA common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain.
See also OMIM:603932

Organism-specific databases

DisGeNETi8483
MalaCardsiCILP
MIMi603932 phenotype
OpenTargetsiENSG00000138615
PharmGKBiPA26518

Polymorphism and mutation databases

BioMutaiCILP

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000001467122 – 1184Cartilage intermediate layer protein 1Add BLAST1163
ChainiPRO_000001467222 – ?724Cartilage intermediate layer protein 1 C1Add BLAST703
ChainiPRO_0000014673?725 – 1184Cartilage intermediate layer protein 1 C2Add BLAST460

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi129N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi132N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi161 ↔ 195By similarity
Disulfide bondi165 ↔ 200By similarity
Disulfide bondi177 ↔ 185By similarity
Disulfide bondi330 ↔ 376By similarity
Glycosylationi346N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi420N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi550N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi631N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1000N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1056N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

Cleaved into 2 chains possibly by a furin-like protease upon or preceding secretion.

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiO75339
PeptideAtlasiO75339
PRIDEiO75339
ProteomicsDBi49908

PTM databases

GlyConnecti1075
iPTMnetiO75339
PhosphoSitePlusiO75339

Expressioni

Tissue specificityi

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 increases with aging in hip articular cartilage. Overexpressed in articular hyaline cartilage from patients with calcium pyrophosphate dihydrate crystal deposition disease (CPPD). Expression in intervertebral disk tissue from individuals with lumbar disk disease increases as disk degeneration progresses.4 Publications

Gene expression databases

BgeeiENSG00000138615 Expressed in 162 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_CILP
GenevisibleiO75339 HS

Organism-specific databases

HPAiHPA003195

Interactioni

Subunit structurei

Monomer. Interacts with TGFB1.2 Publications

Protein-protein interaction databases

BioGridi114057, 2 interactors
IntActiO75339, 1 interactor
STRINGi9606.ENSP00000261883

Structurei

3D structure databases

ProteinModelPortaliO75339
SMRiO75339
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini149 – 201TSP type-1PROSITE-ProRule annotationAdd BLAST53
Domaini309 – 395Ig-like C2-typeAdd BLAST87

Keywords - Domaini

Immunoglobulin domain, Signal

Phylogenomic databases

eggNOGiENOG410IJBD Eukaryota
ENOG410XXZR LUCA
GeneTreeiENSGT00390000008152
HOGENOMiHOG000111676
HOVERGENiHBG081175
InParanoidiO75339
OMAiVPQPYLN
OrthoDBiEOG091G010Q
PhylomeDBiO75339
TreeFamiTF330132

Family and domain databases

Gene3Di2.20.100.10, 1 hit
2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR008969 CarboxyPept-like_regulatory
IPR039675 CILP1/CILP2
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003599 Ig_sub
IPR003598 Ig_sub2
IPR000884 TSP1_rpt
IPR036383 TSP1_rpt_sf
IPR025155 WxxW_domain
PANTHERiPTHR15031 PTHR15031, 1 hit
PfamiView protein in Pfam
PF13330 Mucin2_WxxW, 1 hit
PF00090 TSP_1, 1 hit
SMARTiView protein in SMART
SM00409 IG, 1 hit
SM00408 IGc2, 1 hit
SM00209 TSP1, 1 hit
SUPFAMiSSF48726 SSF48726, 1 hit
SSF49464 SSF49464, 1 hit
SSF82895 SSF82895, 1 hit
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 1 hit
PS50092 TSP1, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

O75339-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVGTKAWVFS FLVLEVTSVL GRQTMLTQSV RRVQPGKKNP SIFAKPADTL
60 70 80 90 100
ESPGEWTTWF NIDYPGGKGD YERLDAIRFY YGDRVCARPL RLEARTTDWT
110 120 130 140 150
PAGSTGQVVH GSPREGFWCL NREQRPGQNC SNYTVRFLCP PGSLRRDTER
160 170 180 190 200
IWSPWSPWSK CSAACGQTGV QTRTRICLAE MVSLCSEASE EGQHCMGQDC
210 220 230 240 250
TACDLTCPMG QVNADCDACM CQDFMLHGAV SLPGGAPASG AAIYLLTKTP
260 270 280 290 300
KLLTQTDSDG RFRIPGLCPD GKSILKITKV KFAPIVLTMP KTSLKAATIK
310 320 330 340 350
AEFVRAETPY MVMNPETKAR RAGQSVSLCC KATGKPRPDK YFWYHNDTLL
360 370 380 390 400
DPSLYKHESK LVLRKLQQHQ AGEYFCKAQS DAGAVKSKVA QLIVIASDET
410 420 430 440 450
PCNPVPESYL IRLPHDCFQN ATNSFYYDVG RCPVKTCAGQ QDNGIRCRDA
460 470 480 490 500
VQNCCGISKT EEREIQCSGY TLPTKVAKEC SCQRCTETRS IVRGRVSAAD
510 520 530 540 550
NGEPMRFGHV YMGNSRVSMT GYKGTFTLHV PQDTERLVLT FVDRLQKFVN
560 570 580 590 600
TTKVLPFNKK GSAVFHEIKM LRRKKPITLE AMETNIIPLG EVVGEDPMAE
610 620 630 640 650
LEIPSRSFYR QNGEPYIGKV KASVTFLDPR NISTATAAQT DLNFINDEGD
660 670 680 690 700
TFPLRTYGMF SVDFRDEVTS EPLNAGKVKV HLDSTQVKMP EHISTVKLWS
710 720 730 740 750
LNPDTGLWEE EGDFKFENQR RNKREDRTFL VGNLEIRERR LFNLDVPESR
760 770 780 790 800
RCFVKVRAYR SERFLPSEQI QGVVISVINL EPRTGFLSNP RAWGRFDSVI
810 820 830 840 850
TGPNGACVPA FCDDQSPDAY SAYVLASLAG EELQAVESSP KFNPNAIGVP
860 870 880 890 900
QPYLNKLNYR RTDHEDPRVK KTAFQISMAK PRPNSAEESN GPIYAFENLR
910 920 930 940 950
ACEEAPPSAA HFRFYQIEGD RYDYNTVPFN EDDPMSWTED YLAWWPKPME
960 970 980 990 1000
FRACYIKVKI VGPLEVNVRS RNMGGTHRQT VGKLYGIRDV RSTRDRDQPN
1010 1020 1030 1040 1050
VSAACLEFKC SGMLYDQDRV DRTLVKVIPQ GSCRRASVNP MLHEYLVNHL
1060 1070 1080 1090 1100
PLAVNNDTSE YTMLAPLDPL GHNYGIYTVT DQDPRTAKEI ALGRCFDGTS
1110 1120 1130 1140 1150
DGSSRIMKSN VGVALTFNCV ERQVGRQSAF QYLQSTPAQS PAAGTVQGRV
1160 1170 1180
PSRRQQRASR GGQRQGGVVA SLRFPRVAQQ PLIN
Length:1,184
Mass (Da):132,565
Last modified:January 11, 2011 - v4
Checksum:i190B0316404D3B84
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti54G → M AA sequence (PubMed:9722584).Curated1
Sequence conflicti288T → D AA sequence (PubMed:9722584).Curated1
Sequence conflicti305R → D AA sequence (PubMed:9722584).Curated1
Sequence conflicti347D → T AA sequence (PubMed:9722584).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02276859W → L3 PublicationsCorresponds to variant dbSNP:rs2585033Ensembl.1
Natural variantiVAR_022769327S → F1 Publication1
Natural variantiVAR_022770395I → T Common polymorphism; associated with susceptibility to lumbar disk disease in Japanese; increases binding and inhibition of TGFB1. 5 PublicationsCorresponds to variant dbSNP:rs2073711EnsemblClinVar.1
Natural variantiVAR_069430495R → H1 PublicationCorresponds to variant dbSNP:rs149286218Ensembl.1
Natural variantiVAR_022771575K → E6 PublicationsCorresponds to variant dbSNP:rs2679118Ensembl.1
Natural variantiVAR_022772895A → V1 PublicationCorresponds to variant dbSNP:rs771628304Ensembl.1
Natural variantiVAR_022773979Q → R6 PublicationsCorresponds to variant dbSNP:rs2679117Ensembl.1
Natural variantiVAR_0694311032S → T1 PublicationCorresponds to variant dbSNP:rs768702821Ensembl.1
Natural variantiVAR_0227741101D → N1 PublicationCorresponds to variant dbSNP:rs769023414Ensembl.1
Natural variantiVAR_0227751166G → S5 PublicationsCorresponds to variant dbSNP:rs938952Ensembl.1
Natural variantiVAR_0227761168V → A1 PublicationCorresponds to variant dbSNP:rs747702148Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF035408 mRNA Translation: AAC33838.1
AB022430 Genomic DNA Translation: BAA76692.1
AF035455
, AF035448, AF035451, AF035453, AF035449 Genomic DNA Translation: AAF14689.1
AY358904 mRNA Translation: AAQ89263.1
AK313352 mRNA Translation: BAG36154.1
AC068213 Genomic DNA No translation available.
BC035776 mRNA Translation: AAH35776.1
CCDSiCCDS10203.1
PIRiT09484
RefSeqiNP_003604.3, NM_003613.3
UniGeneiHs.442180

Genome annotation databases

EnsembliENST00000261883; ENSP00000261883; ENSG00000138615
GeneIDi8483
KEGGihsa:8483
UCSCiuc002aon.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF035408 mRNA Translation: AAC33838.1
AB022430 Genomic DNA Translation: BAA76692.1
AF035455
, AF035448, AF035451, AF035453, AF035449 Genomic DNA Translation: AAF14689.1
AY358904 mRNA Translation: AAQ89263.1
AK313352 mRNA Translation: BAG36154.1
AC068213 Genomic DNA No translation available.
BC035776 mRNA Translation: AAH35776.1
CCDSiCCDS10203.1
PIRiT09484
RefSeqiNP_003604.3, NM_003613.3
UniGeneiHs.442180

3D structure databases

ProteinModelPortaliO75339
SMRiO75339
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114057, 2 interactors
IntActiO75339, 1 interactor
STRINGi9606.ENSP00000261883

PTM databases

GlyConnecti1075
iPTMnetiO75339
PhosphoSitePlusiO75339

Polymorphism and mutation databases

BioMutaiCILP

Proteomic databases

PaxDbiO75339
PeptideAtlasiO75339
PRIDEiO75339
ProteomicsDBi49908

Protocols and materials databases

DNASUi8483
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261883; ENSP00000261883; ENSG00000138615
GeneIDi8483
KEGGihsa:8483
UCSCiuc002aon.3 human

Organism-specific databases

CTDi8483
DisGeNETi8483
EuPathDBiHostDB:ENSG00000138615.5
GeneCardsiCILP
HGNCiHGNC:1980 CILP
HPAiHPA003195
MalaCardsiCILP
MIMi603489 gene
603932 phenotype
neXtProtiNX_O75339
OpenTargetsiENSG00000138615
PharmGKBiPA26518
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJBD Eukaryota
ENOG410XXZR LUCA
GeneTreeiENSGT00390000008152
HOGENOMiHOG000111676
HOVERGENiHBG081175
InParanoidiO75339
OMAiVPQPYLN
OrthoDBiEOG091G010Q
PhylomeDBiO75339
TreeFamiTF330132

Enzyme and pathway databases

ReactomeiR-HSA-2404192 Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)

Miscellaneous databases

ChiTaRSiCILP human
GeneWikiiCILP
GenomeRNAii8483
PROiPR:O75339
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138615 Expressed in 162 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_CILP
GenevisibleiO75339 HS

Family and domain databases

Gene3Di2.20.100.10, 1 hit
2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR008969 CarboxyPept-like_regulatory
IPR039675 CILP1/CILP2
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003599 Ig_sub
IPR003598 Ig_sub2
IPR000884 TSP1_rpt
IPR036383 TSP1_rpt_sf
IPR025155 WxxW_domain
PANTHERiPTHR15031 PTHR15031, 1 hit
PfamiView protein in Pfam
PF13330 Mucin2_WxxW, 1 hit
PF00090 TSP_1, 1 hit
SMARTiView protein in SMART
SM00409 IG, 1 hit
SM00408 IGc2, 1 hit
SM00209 TSP1, 1 hit
SUPFAMiSSF48726 SSF48726, 1 hit
SSF49464 SSF49464, 1 hit
SSF82895 SSF82895, 1 hit
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 1 hit
PS50092 TSP1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCILP1_HUMAN
AccessioniPrimary (citable) accession number: O75339
Secondary accession number(s): B2R8F7, Q6UW99, Q8IYI5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: January 11, 2011
Last modified: November 7, 2018
This is version 148 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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