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Hyaluronan and proteoglycan link protein 1 (Cartilage-linking protein 1) (Cartilage-link protein) (Proteoglycan link protein)

 HPLN1_HUMAN             Reviewed;         354 AA.
P10915; B2R9A9;
01-JUL-1989, integrated into UniProtKB/Swiss-Prot.
01-APR-1990, sequence version 2.
27-SEP-2017, entry version 170.
RecName: Full=Hyaluronan and proteoglycan link protein 1;
AltName: Full=Cartilage-linking protein 1;
Short=Cartilage-link protein;
AltName: Full=Proteoglycan link protein;
Flags: Precursor;
Name=HAPLN1; Synonyms=CRTL1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Articular chondrocyte;
PubMed=2320422; DOI=10.1093/nar/18.5.1292;
Dudhia J., Hardingham T.E.;
"The primary structure of human cartilage link protein.";
Nucleic Acids Res. 18:1292-1292(1990).
[2]
ERRATUM.
PubMed=2336413; DOI=10.1093/nar/18.8.2214;
Dudhia J., Hardingham T.E.;
Nucleic Acids Res. 18:2214-2214(1990).
[3]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=2286376; DOI=10.1016/0888-7543(90)90044-U;
Osborne-Lawrence S.L., Sinclair A.K., Hicks R.C., Lacey S.W.,
Eddy R.L. Jr., Byers M.G., Shows T.B., Duby A.D.;
"Complete amino acid sequence of human cartilage link protein (CRTL1)
deduced from cDNA clones and chromosomal assignment of the gene.";
Genomics 8:562-567(1990).
[4]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=2030970; DOI=10.1093/nar/19.8.1933;
Rhodes C., Savagner P., Line S., Sasaki M., Chirigos M., Doege K.,
Yamada Y.;
"Characterization of the promoter for the rat and human link protein
gene.";
Nucleic Acids Res. 19:1933-1939(1991).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Placenta;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[8]
TISSUE SPECIFICITY.
PubMed=11027579; DOI=10.1006/bbrc.2000.3583;
Hirakawa S., Oohashi T., Su W.-D., Yoshioka H., Murakami T., Arata J.,
Ninomiya Y.;
"The brain link protein-1 (BRAL1): cDNA cloning, genomic structure,
and characterization as a novel link protein expressed in adult
brain.";
Biochem. Biophys. Res. Commun. 276:982-989(2000).
[9]
TISSUE SPECIFICITY.
PubMed=12663660; DOI=10.1074/jbc.M213100200;
Spicer A.P., Joo A., Bowling R.A. Jr.;
"A hyaluronan binding link protein gene family whose members are
physically linked adjacent to chondroitin sulfate proteoglycan core
protein genes: the missing links.";
J. Biol. Chem. 278:21083-21091(2003).
[10]
VARIANT [LARGE SCALE ANALYSIS] HIS-333.
PubMed=16959974; DOI=10.1126/science.1133427;
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
Vogelstein B., Kinzler K.W., Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal
cancers.";
Science 314:268-274(2006).
-!- FUNCTION: Stabilizes the aggregates of proteoglycan monomers with
hyaluronic acid in the extracellular cartilage matrix.
-!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
matrix.
-!- TISSUE SPECIFICITY: Widely expressed. Weakly expressed in the
brain. {ECO:0000269|PubMed:11027579, ECO:0000269|PubMed:12663660}.
-!- SIMILARITY: Belongs to the HAPLN family. {ECO:0000305}.
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EMBL; X17405; CAA35462.1; -; mRNA.
EMBL; U43328; AAA85216.1; -; mRNA.
EMBL; AK313713; BAG36456.1; -; mRNA.
EMBL; CH471084; EAW95912.1; -; Genomic_DNA.
EMBL; BC057808; AAH57808.1; -; mRNA.
CCDS; CCDS4061.1; -.
PIR; S14914; LKHU.
RefSeq; NP_001875.1; NM_001884.3.
RefSeq; XP_011541470.1; XM_011543168.2.
RefSeq; XP_016864540.1; XM_017009051.1.
RefSeq; XP_016864541.1; XM_017009052.1.
UniGene; Hs.2799; -.
ProteinModelPortal; P10915; -.
SMR; P10915; -.
BioGrid; 107794; 2.
STRING; 9606.ENSP00000274341; -.
DrugBank; DB08818; Hyaluronic acid.
iPTMnet; P10915; -.
PhosphoSitePlus; P10915; -.
BioMuta; HAPLN1; -.
DMDM; 130310; -.
EPD; P10915; -.
MaxQB; P10915; -.
PaxDb; P10915; -.
PeptideAtlas; P10915; -.
PRIDE; P10915; -.
DNASU; 1404; -.
Ensembl; ENST00000274341; ENSP00000274341; ENSG00000145681.
GeneID; 1404; -.
KEGG; hsa:1404; -.
UCSC; uc003kin.4; human.
CTD; 1404; -.
DisGeNET; 1404; -.
EuPathDB; HostDB:ENSG00000145681.10; -.
GeneCards; HAPLN1; -.
HGNC; HGNC:2380; HAPLN1.
HPA; HPA019105; -.
HPA; HPA019482; -.
MIM; 115435; gene.
neXtProt; NX_P10915; -.
OpenTargets; ENSG00000145681; -.
PharmGKB; PA26901; -.
eggNOG; ENOG410IF28; Eukaryota.
eggNOG; ENOG410XRS8; LUCA.
GeneTree; ENSGT00760000119025; -.
HOGENOM; HOG000234353; -.
HOVERGEN; HBG051922; -.
InParanoid; P10915; -.
KO; K06848; -.
OMA; WRSGLDW; -.
OrthoDB; EOG091G09EL; -.
PhylomeDB; P10915; -.
TreeFam; TF332134; -.
Reactome; R-HSA-3000178; ECM proteoglycans.
ChiTaRS; HAPLN1; human.
GeneWiki; HAPLN1; -.
GenomeRNAi; 1404; -.
PMAP-CutDB; P10915; -.
PRO; PR:P10915; -.
Proteomes; UP000005640; Chromosome 5.
Bgee; ENSG00000145681; -.
CleanEx; HS_HAPLN1; -.
ExpressionAtlas; P10915; baseline and differential.
Genevisible; P10915; HS.
GO; GO:0031012; C:extracellular matrix; IDA:BHF-UCL.
GO; GO:0005576; C:extracellular region; TAS:Reactome.
GO; GO:0005578; C:proteinaceous extracellular matrix; IBA:GO_Central.
GO; GO:0005201; F:extracellular matrix structural constituent; IBA:GO_Central.
GO; GO:0005540; F:hyaluronic acid binding; IBA:GO_Central.
GO; GO:0007155; P:cell adhesion; IEA:InterPro.
GO; GO:0007417; P:central nervous system development; IBA:GO_Central.
GO; GO:0030198; P:extracellular matrix organization; TAS:Reactome.
GO; GO:0001501; P:skeletal system development; IBA:GO_Central.
Gene3D; 2.60.40.10; -; 1.
Gene3D; 3.10.100.10; -; 2.
InterPro; IPR016186; C-type_lectin-like/link.
InterPro; IPR016187; CTDL_fold.
InterPro; IPR007110; Ig-like_dom.
InterPro; IPR013783; Ig-like_fold.
InterPro; IPR003599; Ig_sub.
InterPro; IPR013106; Ig_V-set.
InterPro; IPR000538; Link_dom.
Pfam; PF07686; V-set; 1.
Pfam; PF00193; Xlink; 2.
PRINTS; PR01265; LINKMODULE.
SMART; SM00409; IG; 1.
SMART; SM00406; IGv; 1.
SMART; SM00445; LINK; 2.
SUPFAM; SSF48726; SSF48726; 1.
SUPFAM; SSF56436; SSF56436; 2.
PROSITE; PS50835; IG_LIKE; 1.
PROSITE; PS01241; LINK_1; 2.
PROSITE; PS50963; LINK_2; 2.
2: Evidence at transcript level;
Complete proteome; Disulfide bond; Extracellular matrix; Glycoprotein;
Hyaluronic acid; Immunoglobulin domain; Polymorphism;
Reference proteome; Repeat; Secreted.
PROPEP 1 15
/FTId=PRO_0000013177.
CHAIN 16 354 Hyaluronan and proteoglycan link protein
1.
/FTId=PRO_0000013178.
DOMAIN 38 152 Ig-like V-type.
DOMAIN 159 254 Link 1. {ECO:0000255|PROSITE-
ProRule:PRU00323}.
DOMAIN 259 351 Link 2. {ECO:0000255|PROSITE-
ProRule:PRU00323}.
CARBOHYD 21 21 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 56 56 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 61 139 {ECO:0000250}.
DISULFID 181 252 {ECO:0000250}.
DISULFID 205 226 {ECO:0000250}.
DISULFID 279 349 {ECO:0000250}.
DISULFID 304 325 {ECO:0000250}.
VARIANT 281 281 N -> S (in dbSNP:rs6864342).
/FTId=VAR_049316.
VARIANT 333 333 R -> H (in a colorectal cancer sample;
somatic mutation).
{ECO:0000269|PubMed:16959974}.
/FTId=VAR_036168.
CONFLICT 274 274 E -> V (in Ref. 7; AAH57808).
{ECO:0000305}.
SEQUENCE 354 AA; 40166 MW; 315C96EC3AC2626A CRC64;
MKSLLLLVLI SICWADHLSD NYTLDHDRAI HIQAENGPHL LVEAEQAKVF SHRGGNVTLP
CKFYRDPTAF GSGIHKIRIK WTKLTSDYLK EVDVFVSMGY HKKTYGGYQG RVFLKGGSDS
DASLVITDLT LEDYGRYKCE VIEGLEDDTV VVALDLQGVV FPYFPRLGRY NLNFHEAQQA
CLDQDAVIAS FDQLYDAWRG GLDWCNAGWL SDGSVQYPIT KPREPCGGQN TVPGVRNYGF
WDKDKSRYDV FCFTSNFNGR FYYLIHPTKL TYDEAVQACL NDGAQIAKVG QIFAAWKILG
YDRCDAGWLA DGSVRYPISR PRRRCSPTEA AVRFVGFPDK KHKLYGVYCF RAYN


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