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

HAPLN1 Gene

protein-coding   GIFtS: 60
GCID: GC05M082933

hyaluronan and proteoglycan link protein 1

(Previous name: cartilage linking protein 1 )
(Previous symbol: CRTL1)
 Explore 17 diseases affiliated with
HAPLN1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HAPLN1    

Aliases
for HAPLN1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Hyaluronan And Proteoglycan Link Protein 11 2     Cartilage-Linking Protein 12 3
CRTL11 2 3 5     Proteoglycan Link Protein2 3
Cartilage Linking Protein 11 2     Cartilage Link Protein2
Cartilage-Link Protein2 3     

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


Summaries
for HAPLN1 gene

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  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 plasmid: HAPLN1 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

Proteins
for HAPLN1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P10915

    • HAPLN1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001875.1  
    ENSEMBL proteins: 
     ENSP00000274341   ENSP00000422592   ENSP00000421341   ENSP00000426610   ENSP00000422522  
     ENSP00000421726   ENSP00000423836  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: HAPLN1
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    Novus Biologicals HAPLN1 Protein
    Novus Biologicals HAPLN1 Lysates
    Sino Biological Recombinant Protein for HAPLN1
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for HAPLN1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0031012colocalizes with extracellular matrix IDA--


    HAPLN1 for ontologies           About GeneDecksing



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    Uscn Antibodies for HAPLN1
    ThermoFisher Antibody for HAPLN1

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    Uscn ELISAs and CLIAs for HAPLN1

    Protein Domains /
    Families
    for HAPLN1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HAPLN1 for domains           About GeneDecksing

    5/7 InterPro domains/families (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 families:
    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


    Function
    for HAPLN1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: HAPLN1
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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 plasmid: HAPLN1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HAPLN1 (see all 7)
    OriGene shRNA RFP: HAPLN1
    OriGene siRNA: HAPLN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HAPLN1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for HAPLN1

    Clone
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    Sino Biological Human cDNA Clone for HAPLN1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HAPLN1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for HAPLN1
    LifeMap BioReagents: 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, PureStem SK11, NCr-fac & Meso-prx Progenitor,
    PureStem SM30, NCr-fac & Meso-latp Progenitor

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAPLN1

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005540hyaluronic acid binding IEA--


    HAPLN1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Hapln1tm1Nid for HAPLN1
         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


    Pathways & Interactions
    for HAPLN1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell adhesion_Cell-matrix glycoconjugates
    		Cell adhesion_Cell-matrix glycoconjugates1.00
    		Cell adhesion Cell-matrix glycoconjugates0.97
    2Articular Cartilage Extracellular Matrix
    		Articular Cartilage Extracellular Matrix1.00

    Pathway sources
    See GeneCards unified pathways
    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



    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): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--


    HAPLN1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for HAPLN1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

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

    Transcripts
    for HAPLN1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
    Products:             		 OriGene 3'-UTR Clone: HAPLN1
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: HAPLN1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HAPLN1 (see all 7)
    OriGene shRNA RFP: HAPLN1
    OriGene siRNA: HAPLN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HAPLN1
    Clone
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: HAPLN1 (NM_001884)
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    Primer
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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 cDNA 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):

    BQ573867 CB157941 CR605965 BI493085 AU117138 AA664475 CA414023 AU117728 
    BU735930 BF057839 BX396679 BQ573708 BX282759 BF589298 CR597704 CB132999 
    AI052715 CA413596 BQ181458 CA414697 M63579 AI494580 CA412730 CN485077 

    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

    Expression
    for HAPLN1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    HAPLN1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/18 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 18) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageRostral SynchondrosesChondrocytesBone, Cartilage
    CartilageSynchondrosesChondrocytesBone, Cartilage
    Head MesenchymeBranchial Arch 2ChondrocytesBone, Cartilage
    HeartAtrioventricular ValvesAtrioventricular Valve CellsEndocardium, Myocardium
    BoneCaudal Endochondral BonesPrehypertrophic ChondrocytesBone, Cartilage
    BoneEndochondral Facial BonesPrehypertrophic ChondrocytesBone, Cartilage
    BoneRostral Endochondral Facial BonesPrehypertrophic ChondrocytesBone, Cartilage
    BoneZeugopod Epiphyseal EndChondrocytesBone, Cartilage
    HeartMyocardiumCardiac FibroblastsEpicardium
    Head MesenchymeBranchial Arch 1Cranial Neural Crest CellsNeural Crest
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/25 LifeMap Cells (see all 25) 
    NameCategory
    PureStem™ progenitor E68 (Embryonic Progenitor Cell)
    PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)

    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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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAPLN1

    Orthologs
    for HAPLN1 gene

    (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
    		 --
    		 79(a)
    		 1 ↔ 1
    		 2(18761711-18783033)
    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
    for HAPLN1 gene

    (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



    Genomic Variants
    for HAPLN1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1631 NCBI SNPs in HAPLN1 are shown (see all 1631)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1826410011,2
    		--82933607(+) GTGCTA/TAAGAG 1 -- ds50010--------
    rs1168219141,2
    		F,--82933684(+) TTAAAA/GTGTGT 1 -- ds50011Minor allele frequency- G:0.02WA 118
    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--------
    rs1419508351,2
    		--82934067(+) TTACAA/GAAAAT 1 -- ut310--------
    rs1892372621,2
    		--82934072(+) GAAAAG/TCAAAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for HAPLN1 (82933624 - 83017432 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for HAPLN1
         2 CNVs: 93122 6418

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HAPLN1
    DNA2.0 Custom Variant and Variant Library Synthesis for HAPLN1

    Disorders / Diseases
    for HAPLN1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    HAPLN1 for disorders           About GeneDecksing

    OMIM gene information: 115435    OMIM disorders: --

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

    6 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: HAPLN1 (5 documents)

    Export disorders for HAPLN1 gene to outside databases

    Publications
    for HAPLN1 gene

    (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 96):
    (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. 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)
    6. Characterization of the promoter for the rat and human link protein gene. (PubMed id 2030970)1, 2 Rhodes C....Yamada Y. (1991)
    7. The primary structure of human cartilage link protein. (PubMed id 2336413)1, 2 Dudhia J. and Hardingham T.E. (1990)
    8. Production of cartilage link protein by human granulosa-lutein cells. (PubMed id 12429048)1, 9 Sun G.W....Terao T. (2002)
    9. SOX9-dependent and -independent transcriptional regulation of human cartilage link protein. (PubMed id 15456769)1, 9 Kou I. and Ikegawa S. (2004)
    10. Distinct interaction of versican/PG-M with hyaluronan and link protein. (PubMed id 12888576)1, 9 Matsumoto K....Watanabe H. (2003)

    External Searches for HAPLN1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing HAPLN1 gene

    (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

    Other Databases showing HAPLN1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HAPLN1 gene

    (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

    Intellectual Property
    for HAPLN1 gene

    (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



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     HAPLN1 Proteins, Antibodies, CLIAs, and ELISAs
     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, PureStem SK11, NCr-fac & Meso-prx Progenitor,
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