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P10915

- HPLN1_HUMAN

UniProt

P10915 - HPLN1_HUMAN

Protein

Hyaluronan and proteoglycan link protein 1

Gene

HAPLN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 144 (01 Oct 2014)
      Sequence version 2 (01 Apr 1990)
      Previous versions | rss
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    Functioni

    Stabilizes the aggregates of proteoglycan monomers with hyaluronic acid in the extracellular cartilage matrix.

    GO - Molecular functioni

    1. hyaluronic acid binding Source: UniProtKB-KW

    GO - Biological processi

    1. cell adhesion Source: InterPro
    2. extracellular matrix organization Source: Reactome

    Keywords - Ligandi

    Hyaluronic acid

    Enzyme and pathway databases

    ReactomeiREACT_163906. ECM proteoglycans.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hyaluronan and proteoglycan link protein 1
    Alternative name(s):
    Cartilage-linking protein 1
    Short name:
    Cartilage-link protein
    Proteoglycan link protein
    Gene namesi
    Name:HAPLN1
    Synonyms:CRTL1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:2380. HAPLN1.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular region Source: Reactome
    2. proteinaceous extracellular matrix Source: ProtInc

    Keywords - Cellular componenti

    Extracellular matrix, Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA26901.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Propeptidei1 – 1515PRO_0000013177Add
    BLAST
    Chaini16 – 354339Hyaluronan and proteoglycan link protein 1PRO_0000013178Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi21 – 211N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi56 – 561N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi61 ↔ 139By similarity
    Disulfide bondi181 ↔ 252By similarity
    Disulfide bondi205 ↔ 226By similarity
    Disulfide bondi279 ↔ 349By similarity
    Disulfide bondi304 ↔ 325By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiP10915.
    PaxDbiP10915.
    PRIDEiP10915.

    PTM databases

    PhosphoSiteiP10915.

    Miscellaneous databases

    PMAP-CutDBP10915.

    Expressioni

    Tissue specificityi

    Widely expressed. Weakly expressed in the brain.2 Publications

    Gene expression databases

    ArrayExpressiP10915.
    BgeeiP10915.
    CleanExiHS_HAPLN1.
    GenevestigatoriP10915.

    Organism-specific databases

    HPAiHPA019105.
    HPA019482.

    Interactioni

    Protein-protein interaction databases

    BioGridi107794. 3 interactions.
    STRINGi9606.ENSP00000274341.

    Structurei

    3D structure databases

    ProteinModelPortaliP10915.
    SMRiP10915. Positions 48-162, 166-253, 269-353.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini38 – 152115Ig-like V-typeAdd
    BLAST
    Domaini159 – 25496Link 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini259 – 35193Link 2PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the HAPLN family.Curated
    Contains 2 Link domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Immunoglobulin domain, Repeat

    Phylogenomic databases

    eggNOGiNOG145467.
    HOGENOMiHOG000234353.
    HOVERGENiHBG051922.
    InParanoidiP10915.
    KOiK06848.
    OMAiWRSGLDW.
    PhylomeDBiP10915.
    TreeFamiTF332134.

    Family and domain databases

    Gene3Di2.60.40.10. 1 hit.
    3.10.100.10. 2 hits.
    InterProiIPR016186. C-type_lectin-like.
    IPR016187. C-type_lectin_fold.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013106. Ig_V-set.
    IPR003596. Ig_V-set_subgr.
    IPR000538. Link.
    [Graphical view]
    PfamiPF07686. V-set. 1 hit.
    PF00193. Xlink. 2 hits.
    [Graphical view]
    PRINTSiPR01265. LINKMODULE.
    SMARTiSM00406. IGv. 1 hit.
    SM00445. LINK. 2 hits.
    [Graphical view]
    SUPFAMiSSF56436. SSF56436. 2 hits.
    PROSITEiPS50835. IG_LIKE. 1 hit.
    PS01241. LINK_1. 2 hits.
    PS50963. LINK_2. 2 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    P10915-1 [UniParc]FASTAAdd to Basket

    « Hide

    MKSLLLLVLI SICWADHLSD NYTLDHDRAI HIQAENGPHL LVEAEQAKVF    50
    SHRGGNVTLP CKFYRDPTAF GSGIHKIRIK WTKLTSDYLK EVDVFVSMGY 100
    HKKTYGGYQG RVFLKGGSDS DASLVITDLT LEDYGRYKCE VIEGLEDDTV 150
    VVALDLQGVV FPYFPRLGRY NLNFHEAQQA CLDQDAVIAS FDQLYDAWRG 200
    GLDWCNAGWL SDGSVQYPIT KPREPCGGQN TVPGVRNYGF WDKDKSRYDV 250
    FCFTSNFNGR FYYLIHPTKL TYDEAVQACL NDGAQIAKVG QIFAAWKILG 300
    YDRCDAGWLA DGSVRYPISR PRRRCSPTEA AVRFVGFPDK KHKLYGVYCF 350
    RAYN 354
    Length:354
    Mass (Da):40,166
    Last modified:April 1, 1990 - v2
    Checksum:i315C96EC3AC2626A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti274 – 2741E → V in AAH57808. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti281 – 2811N → S.
    Corresponds to variant rs6864342 [ dbSNP | Ensembl ].
    VAR_049316
    Natural varianti333 – 3331R → H in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036168

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X17405 mRNA. Translation: CAA35462.1.
    U43328 mRNA. Translation: AAA85216.1.
    AK313713 mRNA. Translation: BAG36456.1.
    CH471084 Genomic DNA. Translation: EAW95912.1.
    BC057808 mRNA. Translation: AAH57808.1.
    CCDSiCCDS4061.1.
    PIRiS14914. LKHU.
    RefSeqiNP_001875.1. NM_001884.3.
    UniGeneiHs.2799.

    Genome annotation databases

    EnsembliENST00000274341; ENSP00000274341; ENSG00000145681.
    GeneIDi1404.
    KEGGihsa:1404.
    UCSCiuc003kim.3. human.

    Polymorphism databases

    DMDMi130310.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X17405 mRNA. Translation: CAA35462.1 .
    U43328 mRNA. Translation: AAA85216.1 .
    AK313713 mRNA. Translation: BAG36456.1 .
    CH471084 Genomic DNA. Translation: EAW95912.1 .
    BC057808 mRNA. Translation: AAH57808.1 .
    CCDSi CCDS4061.1.
    PIRi S14914. LKHU.
    RefSeqi NP_001875.1. NM_001884.3.
    UniGenei Hs.2799.

    3D structure databases

    ProteinModelPortali P10915.
    SMRi P10915. Positions 48-162, 166-253, 269-353.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107794. 3 interactions.
    STRINGi 9606.ENSP00000274341.

    PTM databases

    PhosphoSitei P10915.

    Polymorphism databases

    DMDMi 130310.

    Proteomic databases

    MaxQBi P10915.
    PaxDbi P10915.
    PRIDEi P10915.

    Protocols and materials databases

    DNASUi 1404.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000274341 ; ENSP00000274341 ; ENSG00000145681 .
    GeneIDi 1404.
    KEGGi hsa:1404.
    UCSCi uc003kim.3. human.

    Organism-specific databases

    CTDi 1404.
    GeneCardsi GC05M082933.
    HGNCi HGNC:2380. HAPLN1.
    HPAi HPA019105.
    HPA019482.
    MIMi 115435. gene.
    neXtProti NX_P10915.
    PharmGKBi PA26901.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG145467.
    HOGENOMi HOG000234353.
    HOVERGENi HBG051922.
    InParanoidi P10915.
    KOi K06848.
    OMAi WRSGLDW.
    PhylomeDBi P10915.
    TreeFami TF332134.

    Enzyme and pathway databases

    Reactomei REACT_163906. ECM proteoglycans.

    Miscellaneous databases

    GeneWikii HAPLN1.
    GenomeRNAii 1404.
    NextBioi 5743.
    PMAP-CutDB P10915.
    PROi P10915.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P10915.
    Bgeei P10915.
    CleanExi HS_HAPLN1.
    Genevestigatori P10915.

    Family and domain databases

    Gene3Di 2.60.40.10. 1 hit.
    3.10.100.10. 2 hits.
    InterProi IPR016186. C-type_lectin-like.
    IPR016187. C-type_lectin_fold.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013106. Ig_V-set.
    IPR003596. Ig_V-set_subgr.
    IPR000538. Link.
    [Graphical view ]
    Pfami PF07686. V-set. 1 hit.
    PF00193. Xlink. 2 hits.
    [Graphical view ]
    PRINTSi PR01265. LINKMODULE.
    SMARTi SM00406. IGv. 1 hit.
    SM00445. LINK. 2 hits.
    [Graphical view ]
    SUPFAMi SSF56436. SSF56436. 2 hits.
    PROSITEi PS50835. IG_LIKE. 1 hit.
    PS01241. LINK_1. 2 hits.
    PS50963. LINK_2. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The primary structure of human cartilage link protein."
      Dudhia J., Hardingham T.E.
      Nucleic Acids Res. 18:1292-1292(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Articular chondrocyte.
    2. "Complete amino acid sequence of human cartilage link protein (CRTL1) deduced from cDNA clones and chromosomal assignment of the gene."
      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.
      Genomics 8:562-567(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "Characterization of the promoter for the rat and human link protein gene."
      Rhodes C., Savagner P., Line S., Sasaki M., Chirigos M., Doege K., Yamada Y.
      Nucleic Acids Res. 19:1933-1939(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      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.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Placenta.
    7. "The brain link protein-1 (BRAL1): cDNA cloning, genomic structure, and characterization as a novel link protein expressed in adult brain."
      Hirakawa S., Oohashi T., Su W.-D., Yoshioka H., Murakami T., Arata J., Ninomiya Y.
      Biochem. Biophys. Res. Commun. 276:982-989(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    8. "A hyaluronan binding link protein gene family whose members are physically linked adjacent to chondroitin sulfate proteoglycan core protein genes: the missing links."
      Spicer A.P., Joo A., Bowling R.A. Jr.
      J. Biol. Chem. 278:21083-21091(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    9. Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-333.

    Entry informationi

    Entry nameiHPLN1_HUMAN
    AccessioniPrimary (citable) accession number: P10915
    Secondary accession number(s): B2R9A9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1989
    Last sequence update: April 1, 1990
    Last modified: October 1, 2014
    This is version 144 of the entry and version 2 of the sequence. [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, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3