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Protein

Hyaluronan and proteoglycan link protein 1

Gene

HAPLN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

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

GO - Molecular functioni

  1. extracellular matrix structural constituent Source: GO_Central
  2. hyaluronic acid binding Source: GO_Central

GO - Biological processi

  1. cell adhesion Source: GO_Central
  2. central nervous system development Source: GO_Central
  3. extracellular matrix organization Source: Reactome
  4. skeletal system development Source: GO_Central
Complete GO annotation...

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 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:2380. HAPLN1.

Subcellular locationi

GO - Cellular componenti

  1. extracellular region Source: Reactome
  2. proteinaceous extracellular matrix Source: ProtInc
Complete GO annotation...

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

BgeeiP10915.
CleanExiHS_HAPLN1.
ExpressionAtlasiP10915. baseline and differential.
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.
GeneTreeiENSGT00760000119025.
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.
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

        10         20         30         40         50
MKSLLLLVLI SICWADHLSD NYTLDHDRAI HIQAENGPHL LVEAEQAKVF
60 70 80 90 100
SHRGGNVTLP CKFYRDPTAF GSGIHKIRIK WTKLTSDYLK EVDVFVSMGY
110 120 130 140 150
HKKTYGGYQG RVFLKGGSDS DASLVITDLT LEDYGRYKCE VIEGLEDDTV
160 170 180 190 200
VVALDLQGVV FPYFPRLGRY NLNFHEAQQA CLDQDAVIAS FDQLYDAWRG
210 220 230 240 250
GLDWCNAGWL SDGSVQYPIT KPREPCGGQN TVPGVRNYGF WDKDKSRYDV
260 270 280 290 300
FCFTSNFNGR FYYLIHPTKL TYDEAVQACL NDGAQIAKVG QIFAAWKILG
310 320 330 340 350
YDRCDAGWLA DGSVRYPISR PRRRCSPTEA AVRFVGFPDK KHKLYGVYCF

RAYN
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi107794. 3 interactions.
STRINGi9606.ENSP00000274341.

Chemistry

DrugBankiDB08818. Hyaluronan.

PTM databases

PhosphoSiteiP10915.

Polymorphism databases

DMDMi130310.

Proteomic databases

MaxQBiP10915.
PaxDbiP10915.
PRIDEiP10915.

Protocols and materials databases

DNASUi1404.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi1404.
GeneCardsiGC05M082933.
HGNCiHGNC:2380. HAPLN1.
HPAiHPA019105.
HPA019482.
MIMi115435. gene.
neXtProtiNX_P10915.
PharmGKBiPA26901.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG145467.
GeneTreeiENSGT00760000119025.
HOGENOMiHOG000234353.
HOVERGENiHBG051922.
InParanoidiP10915.
KOiK06848.
OMAiWRSGLDW.
PhylomeDBiP10915.
TreeFamiTF332134.

Enzyme and pathway databases

ReactomeiREACT_163906. ECM proteoglycans.

Miscellaneous databases

ChiTaRSiHAPLN1. human.
GeneWikiiHAPLN1.
GenomeRNAii1404.
NextBioi5743.
PMAP-CutDBP10915.
PROiP10915.
SOURCEiSearch...

Gene expression databases

BgeeiP10915.
CleanExiHS_HAPLN1.
ExpressionAtlasiP10915. baseline and differential.
GenevestigatoriP10915.

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.
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]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The primary structure of human cartilage link protein."
    Dudhia J., Hardingham T.E.
    Nucleic Acids Res. 18:1292-1292(1989) [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(1989) [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(1990) [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(2003) [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(2003) [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(1999) [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(2002) [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: April 1, 2015
This is version 149 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.