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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HAPLN1 Gene

protein-coding   GIFtS: 64
GCID: GC05M082933

Hyaluronan And Proteoglycan Link Protein 1

(Previous name: cartilage linking protein 1)
(Previous symbol: CRTL1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Hyaluronan And Proteoglycan Link Protein 11 2     Cartilage-Link Protein2 3
CRTL11 2 3 5     Cartilage-Linking Protein 12 3
Cartilage Linking Protein 11 2     Proteoglycan Link Protein2 3
Cartilage Link Protein1 2     

External Ids:    HGNC: 23801   Entrez Gene: 14042   Ensembl: ENSG000001456817   OMIM: 1154355   UniProtKB: P109153   

Export aliases for HAPLN1 gene to outside databases

Previous GC identifers: GC05M083020 GC05M082972 GC05M078141


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for HAPLN1 Gene: 
HAPLN1 (hyaluronan and proteoglycan link protein 1) is a protein-coding gene. Diseases associated with HAPLN1 include pseudoachondroplasia, and juvenile rheumatoid arthritis, and among its related super-pathways are Cell adhesion Cell-matrix glycoconjugates and Collagen formation. GO annotations related to this gene include hyaluronic acid binding. An important paralog of this gene is HAPLN4.

UniProtKB/Swiss-Prot: HPLN1_HUMAN, P10915
Function: Stabilizes the aggregates of proteoglycan monomers with hyaluronic acid in the extracellular cartilage
matrix

Gene Wiki entry for HAPLN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_006713.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HAPLN1 gene promoter:
         LHX3b/Lhx3b   NRSF form 1   CUTL1   POU6F1 (c2)   NRSF form 2   RORalpha1   POU2F1   POU2F1a   Chx10   LHX3a/Lhx3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHAPLN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HAPLN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HAPLN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q14.3   Ensembl cytogenetic band:  5q14.3   HGNC cytogenetic band: 5q14.3

HAPLN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HAPLN1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M082933:  view genomic region     (about GC identifiers)

Start:
82,933,624 bp from pter      End:
83,017,432 bp from pter
Size:
83,809 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HPLN1_HUMAN, P10915 (See protein sequence)
Recommended Name: Hyaluronan and proteoglycan link protein 1 precursor  
Size: 354 amino acids; 40166 Da
Subcellular location: Secreted, extracellular space, extracellular matrix
Secondary accessions: B2R9A9

Explore the universe of human proteins at neXtProt for HAPLN1: NX_P10915

Explore proteomics data for HAPLN1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P10915

  • HAPLN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HAPLN1 Protein Expression
    REFSEQ proteins: NP_001875.1  
    ENSEMBL proteins: 
     ENSP00000274341   ENSP00000422592   ENSP00000421341   ENSP00000426610   ENSP00000422522  
     ENSP00000421726   ENSP00000423836  
    Reactome Protein details: P10915
    Human Recombinant Protein Products for HAPLN1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for HAPLN1
    Browse recombinant and purified proteins available from Enzo Life Sciences
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    OriGene Protein Over-expression Lysate for HAPLN1
    OriGene Custom MassSpec 
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    Novus Biologicals HAPLN1 Protein
    Novus Biologicals HAPLN1 Lysates
    Sino Biological Recombinant Protein for HAPLN1
    Sino Biological Cell Lysate for HAPLN1 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HAPLN1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0016020membrane ----
    GO:0031012colocalizes with extracellular matrix IDA--

    HAPLN1 for ontologies           About GeneDecksing



    HAPLN1 Antibody Products: 
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    Abcam antibodies for HAPLN1
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    ThermoFisher Antibody for HAPLN1
    LSBio Antibodies in human, mouse, rat for HAPLN1 

    Assay Products for HAPLN1: 
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    Cloud-Clone Corp. ELISAs for HAPLN1 
    Cloud-Clone Corp. CLIAs for HAPLN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    VSET: Immunoglobulin superfamily / V-set domain containing

    5/7 InterPro protein domains (see all 7):
     IPR003596 Ig_V-set_subgr
     IPR013783 Ig-like_fold
     IPR013106 Ig_V-set
     IPR000538 Link
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry P10915

    ProtoNet protein and cluster: P10915

    3 Blocks protein domains:
    IPB000538 Link domain
    IPB003596 Immunoglobulin V-type
    IPB013106 Immunoglobulin V-set


    UniProtKB/Swiss-Prot: HPLN1_HUMAN, P10915
    Similarity: Belongs to the HAPLN family
    Similarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain
    Similarity: Contains 2 Link domains


    HAPLN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HPLN1_HUMAN, P10915
    Function: Stabilizes the aggregates of proteoglycan monomers with hyaluronic acid in the extracellular cartilage
    matrix

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005540hyaluronic acid binding IEA--
         
    HAPLN1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HAPLN1:
     Decreased number of cells in m 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hapln1):
     craniofacial  growth/size  hearing/vestibular/ear  limbs/digits/tail  mortality/aging 
     skeleton 

    HAPLN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hapln1tm1Nid for HAPLN1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HAPLN1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HAPLN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HAPLN1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HAPLN1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HAPLN1
    8/104 QIAGEN miScript miRNA Assays for microRNAs that regulate HAPLN1 (see all 104):
    hsa-miR-3194-5p hsa-miR-607 hsa-miR-199a-3p hsa-miR-605 hsa-miR-938 hsa-miR-128 hsa-miR-374a hsa-miR-890
    SwitchGear 3'UTR luciferase reporter plasmidHAPLN1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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                         Customized lentivirus expression plasmids for stable overexpression of HAPLN1 

    Cell Line
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    LifeMap BioReagents: cell lines associated with HAPLN1: PureStem 7PEND24, NCr-fac & Meso-prx Progenitor,
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAPLN1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HAPLN1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cell adhesion Cell-matrix glycoconjugates
    Cell adhesion Cell-matrix glycoconjugates0.97
    2Collagen biosynthesis and modifying enzymes
    Extracellular matrix organization0.39
    3Non-integrin membrane-ECM interactions
    ECM proteoglycans0.38
    4Articular Cartilage Extracellular Matrix
    Articular Cartilage Extracellular Matrix

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for HAPLN1
        Cell adhesion Cell-matrix glycoconjugates

    1 R&D Systems Pathway for HAPLN1
        Articular Cartilage Extracellular Matrix


    1 GeneGo (Thomson Reuters) Pathway for HAPLN1
        Cell adhesion Cell-matrix glycoconjugates


    2        Reactome Pathways for HAPLN1
        ECM proteoglycans
    Extracellular matrix organization



    HAPLN1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HAPLN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/9 Interacting proteins for HAPLN1 (P109153 ENSP000002743414) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MMP2P082533, ENSP000002190704I2D: score=1 STRING: ENSP00000219070
    MMP7P092373, ENSP000002602274I2D: score=1 STRING: ENSP00000260227
    VCANP136113, ENSP000002650774I2D: score=2 STRING: ENSP00000265077
    MMP3P082543, ENSP000002998554I2D: score=1 STRING: ENSP00000299855
    MMP9P147803, ENSP000003614054I2D: score=1 STRING: ENSP00000361405
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0030198extracellular matrix organization TAS--

    HAPLN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HAPLN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HAPLN1 (HPLN1)

    1 HMDB Compound for HAPLN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Hyaluronic acidhyaluronic acid 9004-61-9--

    7 Novoseek inferred chemical compound relationships for HAPLN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neurocan 80 4 15062856 (3), 8907541 (1)
    hyaluronic acid 66.2 20 8034670 (3), 8500595 (2), 12429048 (2), 8298252 (2) (see all 7)
    keratan sulfate 50.8 5 10088776 (2)
    guanidine hydrochloride 40.7 4 8500595 (1), 8298252 (1), 12431185 (1)
    chondroitin sulfate 40.6 2 12888576 (1)
    glycosaminoglycan 35.3 1 12431185 (1)
    tyrosine 0 1 1356634 (1)

    Search CenterWatch for drugs/clinical trials and news about HAPLN1 / HPLN1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HAPLN1 gene: 
    NM_001884.3  

    Unigene Cluster for HAPLN1:

    Hyaluronan and proteoglycan link protein 1
    Hs.2799  [show with all ESTs]
    Unigene Representative Sequence: NM_001884
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000274341(uc003kim.3 uc003kin.3) ENST00000510978 ENST00000508307
    ENST00000503117 ENST00000504713 ENST00000514416 ENST00000515590
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HAPLN1
    8/104 QIAGEN miScript miRNA Assays for microRNAs that regulate HAPLN1 (see all 104):
    hsa-miR-3194-5p hsa-miR-607 hsa-miR-199a-3p hsa-miR-605 hsa-miR-938 hsa-miR-128 hsa-miR-374a hsa-miR-890
    SwitchGear 3'UTR luciferase reporter plasmidHAPLN1 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HAPLN1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HAPLN1

    Additional mRNA sequence: 

    AK313713.1 BC057808.1 M63579.1 U43328.1 X17405.1 X78075.1 X78076.1 

    5 DOTS entries:

    DT.117144  DT.95367165  DT.100019919  DT.100843660  DT.120797267 

    24/128 AceView cDNA sequences (see all 128):

    CA413596 CB132999 CA412730 AU117138 BF057839 BX282759 BI493084 CR605965 
    BQ183835 CN485077 BQ573867 AI494580 BF589298 CA414697 CA412005 BQ573708 
    BQ181458 AU117728 CB157941 BI493085 AI052715 BU735930 CA414023 CR597704 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for HAPLN1 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b
    SP1:        -     -     -     -                                                               
    SP2:                          -                                                               
    SP3:                                                                                          
    SP4:              -     -     -                                                               
    SP5:                    -     -                                                               


    ECgene alternative splicing isoforms for HAPLN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HAPLN1 expression in normal human tissues (normalized intensities)      HAPLN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HAPLN1 Expression
    About this image


    HAPLN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/33 selected tissues (see all 33) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 21 entries
             Chondrocytes Synchondroses
             Mandibular Condyle
             HyStem+TGFbeta3+GDF5-induced SK11 cells
             Human Calvarial Osteoblasts (HCO)   
             mandibular prominence tissue e10.0   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 17 entries
             Chondrocytes Synchondroses
             HyStem+TGFbeta3+GDF5-induced SK11 cells
             Knee Normal Human Articular chondrocytes (knNHAC)   
             fetal cartilage   
     
     Heart (Cardiovascular System)    fully expand to see all 7 entries
             Atrioventricular Valve Cells Atrioventricular Valves
             Heart Tube
             DKK1-induced cells ( Derivation of cardiomyocytes from pluripotent stem cells and...
             Cardiac Myocytes   
     
     Uncategorized (Uncategorized)    fully expand to see all 7 entries
             PureStem Progenitor E72
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 4 entries
             Cranial Neural Crest Cells Branchial Arch 1
             PureStem SK11, NCr-fac & Meso-prx Progenitor

    See HAPLN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HAPLN1

    SOURCE GeneReport for Unigene cluster: Hs.2799

    UniProtKB/Swiss-Prot: HPLN1_HUMAN, P10915
    Tissue specificity: Widely expressed. Weakly expressed in the brain

        SABiosciences Custom PCR Arrays for HAPLN1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HAPLN1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAPLN1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for HAPLN1 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hapln11 , 5 hyaluronan and proteoglycan link protein 11, 5 89.08(n)1
    96.33(a)1
      13 (45.50 cM)5
    129501  NM_013500.41  NP_038528.31 
     895406365 
    chicken
    (Gallus gallus)
    Aves HAPLN11 hyaluronan and proteoglycan link protein 1 81.07(n)
    85.03(a)
      396475  NM_205482.1  NP_990813.1 
    lizard
    (Anolis carolinensis)
    Reptilia HAPLN16
    Uncharacterized protein
    80(a)
    1 ↔ 1
    2(18761711-18842402)
    zebrafish
    (Danio rerio)
    Actinopterygii hapln1b1 hyaluronan and proteoglycan link protein 1b 69.86(n)
    75.36(a)
      569074  XM_002663658.2  XP_002663704.2 


    ENSEMBL Gene Tree for HAPLN1 (if available)
    TreeFam Gene Tree for HAPLN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HAPLN1 gene
    HAPLN42  HAPLN32  ACAN2  BCAN2  NCAN2  VCAN2  HAPLN22  
    8 SIMAP similar genes for HAPLN1 using alignment to 7 protein entries:     HPLN1_HUMAN (see all proteins):
    HAPLN4    HAPLN3    BCAN    VCAN    HAPLN2    ACAN
    CSPG3 variant protein    NCAN

    HAPLN1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1854 SNPs in HAPLN1 are shown (see all 1854)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0361684
    A colorectal cancer sample4--see VAR_0361682 R H mis40--------
    rs1826410011,2
    --82933607(+) GTGCTA/TAAGAG 1 -- ds50010--------
    rs1168219141,2
    C,F--82933684(+) TTAAAA/GTGTGT 1 -- ds50011Minor allele frequency- G:0.02WA 118
    rs717099441,2
    C--82933835(+) TTTTT-/TGACTT 1 -- ds50010--------
    rs1999553051,2
    C--82933849(-) AAAGTA/CAAAAA 1 -- ds50010--------
    rs1866405791,2
    --82933884(+) TGTACA/GTATTT 1 -- ds50010--------
    rs1925299921,2
    --82933893(+) TTACAA/GTTTGA 1 -- ds50010--------
    rs172060691,2
    C,F,H--82933913(+) TATCAG/AAACAA 1 -- ds500114Minor allele frequency- A:0.37NA NS EA WA CSA 928
    rs169006921,2
    C,F,H--82934006(+) AAGAAT/CTAAAA 1 -- ds50018Minor allele frequency- C:0.01NA NS EA WA 680
    rs1849038481,2
    --82934018(+) ATACTA/GCAGTA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for HAPLN1 (82933624 - 83017432 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for HAPLN1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2730402CNV Deletion23290073
    esv2660307CNV Deletion23128226
    nsv4904CNV Insertion18451855
    nsv327409CNV Loss16902084
    nsv882248CNV Gain21882294
    nsv830367CNV Gain+Loss17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 115435    OMIM disorders: --

    16 diseases for HAPLN1:    About MalaCards
    pseudoachondroplasia    juvenile rheumatoid arthritis    osteoarthritis    chondrodysplasia
    ankylosing spondylitis    spondylitis    rheumatoid arthritis    arthritis
    esophageal adenocarcinoma    malignant glioma    schizophrenia    esophagitis
    ovarian cancer    adenocarcinoma    prostate cancer    prostatitis


    HAPLN1 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for HAPLN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    osteoarthritis 50.9 5 10088776 (2), 8000735 (1), 9336408 (1)
    arthritis juvenile rheumatoid 34 3 9150089 (2), 1643745 (1)
    rheumatoid arthritis 29.4 2 9712087 (2)
    arthritis 25.5 8 7632088 (1), 12951872 (1), 12928112 (1)
    necrosis 0 1 9882571 (1)
    tumors 0 1 9882571 (1)

    Genetic Association Database (GAD): HAPLN1
    Human Genome Epidemiology (HuGE) Navigator: HAPLN1 (5 documents)

    Export disorders for HAPLN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HAPLN1 gene, integrated from 9 sources (see all 97):
    (articles sorted by number of sources associating them with HAPLN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete amino acid sequence of human cartilage link protein (CRTL1) deduced from cDNA clones and chromosomal assignment of the gene. (PubMed id 2286376)1, 2, 3, 9 Osborne-Lawrence S.L.... Duby A.D. (1990)
    2. The primary structure of human cartilage link protein. (PubMed id 2320422)1, 2, 3 Dudhia J. and Hardingham T.E. (1990)
    3. A hyaluronan binding link protein gene family whose members are physically linked adjacent to chondroitin sulfate proteoglycan core protein genes: the missing links. (PubMed id 12663660)1, 2, 9 Spicer A.P.... Bowling R.A. Jr. (2003)
    4. The brain link protein-1 (BRAL1): cDNA cloning, genomic structure, and characterization as a novel link protein expressed in adult brain. (PubMed id 11027579)1, 2, 9 Hirakawa S....Ninomiya Y. (2000)
    5. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)
    6. Glypican 5 is an interferon-beta response gene: a rep lication study. (PubMed id 19556317)1, 4 CAcnit M.D....MartA-nez A. (2009)
    7. Sequential use of transcriptional profiling, expressi on quantitative trait mapping, and gene association implicates MMP20 in human k idney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (2009)
    8. A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study. (PubMed id 17903305)1, 4 Murabito J.M....Hwang S.J. (2007)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Characterization of the promoter for the rat and human link protein gene. (PubMed id 2030970)1, 2 Rhodes C....Yamada Y. (1991)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1404 HGNC: 2380 AceView: HAPLN1 Ensembl:ENSG00000145681 euGenes: HUgn1404
    ECgene: HAPLN1 H-InvDB: HAPLN1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HAPLN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HAPLN1 gene:
    Search GeneIP for patents involving HAPLN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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     Proteins for HAPLN1
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     Cell Lines associated with HAPLN1: PureStem 7PEND24, NCr-fac & Meso-prx Progenitor,
    PureStem E15, Meso-prx/latp Progenitor, PureStem ES-209, Meso-prx/latp Progenitor,
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