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    HAPLN1 hyaluronan and proteoglycan link protein 1 [ Homo sapiens (human) ]

    Gene ID: 1404, updated on 12-Nov-2024

    Summary

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    Official Symbol
    HAPLN1provided by HGNC
    Official Full Name
    hyaluronan and proteoglycan link protein 1provided by HGNC
    Primary source
    HGNC:HGNC:2380
    See related
    Ensembl:ENSG00000145681 MIM:115435; AllianceGenome:HGNC:2380
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CRT1; CRTL1
    Summary
    Predicted to enable hyaluronic acid binding activity. Predicted to be an extracellular matrix structural constituent conferring compression resistance. Predicted to be involved in nervous system development; positive regulation of neuroblast proliferation; and skeletal system development. Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in placenta (RPKM 20.1), small intestine (RPKM 4.0) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HAPLN1 in Genome Data Viewer
    Location:
    5q14.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (83637805..83720855, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (84126276..84209363, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (82933624..83016674, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16153 Neighboring gene ferritin heavy chain 1 pseudogene 9 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:82767992-82768864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16154 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16155 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:82771416-82771938 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:82771939-82772461 Neighboring gene versican Neighboring gene VCAN antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:82849966-82851165 Neighboring gene uncharacterized LOC124901021 Neighboring gene RN7SK pseudogene 295 Neighboring gene RNA, U6 small nuclear 620, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16156 Neighboring gene ribosomal protein L13a pseudogene 14 Neighboring gene RNA, U4 small nuclear 11, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Probing binding and occlusion of substrate in the human creatine transporter-1 by computation and mutagenesis. Clarke A, et al. Protein Sci, 2024 Jan. PMID 38032325, Free PMC Article
    2. Distribution of cartilage proteoglycan (aggrecan) core protein and link protein gene expression during human skeletal development. Mundlos S, et al. Matrix, 1991 Nov. PMID 1725805
    3. Characterization of the promoter for the rat and human link protein gene. Rhodes C, et al. Nucleic Acids Res, 1991 Apr 25. PMID 2030970, Free PMC Article
    4. The primary structure of human cartilage link protein. Dudhia J, et al. Nucleic Acids Res, 1990 Mar 11. PMID 2320422, Free PMC Article
    5. The primary structure of human cartilage link protein. Dudhia J, et al. Nucleic Acids Res, 1990 Apr 25. PMID 2336413, Free PMC Article

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Analysis of ANO6, HAPLN1, and EDIL3 Polymorphisms in Patients with Ankylosing Spondylitis in a Chinese Han Population: A Case-Control Study.
      Title: Analysis of ANO6, HAPLN1, and EDIL3 Polymorphisms in Patients with Ankylosing Spondylitis in a Chinese Han Population: A Case-Control Study.
    2. Probing binding and occlusion of substrate in the human creatine transporter-1 by computation and mutagenesis.
      Title: Probing binding and occlusion of substrate in the human creatine transporter-1 by computation and mutagenesis.
    3. HAPLN1 matrikine: a bone marrow homing factor linked to poor outcomes in patients with MM.
      Title: HAPLN1 matrikine: a bone marrow homing factor linked to poor outcomes in patients with MM.
    4. Hyaluronan and Proteoglycan Link Protein 1 Activates the BMP4/Smad1/5/8 Signaling Pathway to Promote Osteogenic Differentiation: an Implication in Fracture Healing.
      Title: Hyaluronan and Proteoglycan Link Protein 1 Activates the BMP4/Smad1/5/8 Signaling Pathway to Promote Osteogenic Differentiation: an Implication in Fracture Healing.
    5. A Hyaluronan and Proteoglycan Link Protein 1 Matrikine: Role of Matrix Metalloproteinase 2 in Multiple Myeloma NF-kappaB Activation and Drug Resistance.
      Title: A Hyaluronan and Proteoglycan Link Protein 1 Matrikine: Role of Matrix Metalloproteinase 2 in Multiple Myeloma NF-κB Activation and Drug Resistance.
    6. HAPLN1 Affects Cell Viability and Promotes the Pro-Inflammatory Phenotype of Fibroblast-Like Synoviocytes.
      Title: HAPLN1 Affects Cell Viability and Promotes the Pro-Inflammatory Phenotype of Fibroblast-Like Synoviocytes.
    7. A Role for HAPLN1 During Phenotypic Modulation of Human Lung Fibroblasts In Vitro.
      Title: A Role for HAPLN1 During Phenotypic Modulation of Human Lung Fibroblasts In Vitro.
    8. A novel role of HAPLN1 loss was reported in the aging lymphatic ECM in mediating lymphatic endothelial permeability, thus permitting melanoma cells to escape from the lymphatic system to distant metastatic sites.
      Title: Age-Related Changes in HAPLN1 Increase Lymphatic Permeability and Affect Routes of Melanoma Metastasis.
    9. HAPLN1 is produced in bone marrow stromal cells from multiple myeloma patients and can activate bortezomib-resistant NF-kappaB.
      Title: Hyaluronan and proteoglycan link protein 1 (HAPLN1) activates bortezomib-resistant NF-κB activity and increases drug resistance in multiple myeloma.
    10. HAPLN1 reflects a signaling network leading to stemness, mesenchymal commitment and hepatocellular carcinoma progression
      Title: De novo HAPLN1 expression hallmarks Wnt-induced stem cell and fibrogenic networks leading to aggressive human hepatocellular carcinomas.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
    EBI GWAS Catalog
    A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables extracellular matrix structural constituent conferring compression resistance RCA
    inferred from Reviewed Computational Analysis
    more info
    		 PubMed 
    enables hyaluronic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in central nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glial cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of neuroblast proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in skeletal system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    colocalizes_with collagen-containing extracellular matrix HDA PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in extracellular matrix TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in perineuronal net IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    hyaluronan and proteoglycan link protein 1
    Names
    Cartilage link protein
    cartilage-link protein
    cartilage-linking protein 1
    proteoglycan link protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001884.4 → NP_001875.1  hyaluronan and proteoglycan link protein 1 precursor

      See identical proteins and their annotated locations for NP_001875.1

      Status: VALIDATED

      Source sequence(s)
      AC020899
      Consensus CDS
      CCDS4061.1
      UniProtKB/Swiss-Prot
      B2R9A9, P10915
      Related
      ENSP00000274341.4, ENST00000274341.9
      Conserved Domains (4) summary
      cd05877
      Location:53 → 160
      Ig_LP_like; Immunoglobulin (Ig)-like domain of human cartilage link protein (LP)
      smart00410
      Location:54 → 141
      IG_like; Immunoglobulin like
      cd03518
      Location:159 → 253
      Link_domain_HAPLN_module_1; Link_domain_HAPLN_module_1; this link domain is found in the first link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a HA-binding ...
      cd03519
      Location:260 → 350
      Link_domain_HAPLN_module_2; Link_domain_HAPLN_module_2; this link domain is found in the second link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      83637805..83720855 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009053.2 → XP_016864542.1  hyaluronan and proteoglycan link protein 1 isoform X2

    2. XM_017009051.2 → XP_016864540.1  hyaluronan and proteoglycan link protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B2R9A9, P10915
      Conserved Domains (4) summary
      cd05877
      Location:53 → 160
      Ig_LP_like; Immunoglobulin (Ig)-like domain of human cartilage link protein (LP)
      smart00410
      Location:54 → 141
      IG_like; Immunoglobulin like
      cd03518
      Location:159 → 253
      Link_domain_HAPLN_module_1; Link_domain_HAPLN_module_1; this link domain is found in the first link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a HA-binding ...
      cd03519
      Location:260 → 350
      Link_domain_HAPLN_module_2; Link_domain_HAPLN_module_2; this link domain is found in the second link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a ...

    3. XM_017009052.2 → XP_016864541.1  hyaluronan and proteoglycan link protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B2R9A9, P10915
      Conserved Domains (4) summary
      cd05877
      Location:53 → 160
      Ig_LP_like; Immunoglobulin (Ig)-like domain of human cartilage link protein (LP)
      smart00410
      Location:54 → 141
      IG_like; Immunoglobulin like
      cd03518
      Location:159 → 253
      Link_domain_HAPLN_module_1; Link_domain_HAPLN_module_1; this link domain is found in the first link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a HA-binding ...
      cd03519
      Location:260 → 350
      Link_domain_HAPLN_module_2; Link_domain_HAPLN_module_2; this link domain is found in the second link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a ...

    4. XM_017009054.3 → XP_016864543.1  hyaluronan and proteoglycan link protein 1 isoform X2

    5. XM_011543168.3 → XP_011541470.1  hyaluronan and proteoglycan link protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011541470.1

      UniProtKB/Swiss-Prot
      B2R9A9, P10915
      Conserved Domains (4) summary
      cd05877
      Location:53 → 160
      Ig_LP_like; Immunoglobulin (Ig)-like domain of human cartilage link protein (LP)
      smart00410
      Location:54 → 141
      IG_like; Immunoglobulin like
      cd03518
      Location:159 → 253
      Link_domain_HAPLN_module_1; Link_domain_HAPLN_module_1; this link domain is found in the first link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a HA-binding ...
      cd03519
      Location:260 → 350
      Link_domain_HAPLN_module_2; Link_domain_HAPLN_module_2; this link domain is found in the second link module of proteins similar to the vertebrate HAPLN (hyaluronan/HA and proteoglycan binding link) protein family which includes cartilage link protein. The link domain is a ...

    6. XM_047416737.1 → XP_047272693.1  hyaluronan and proteoglycan link protein 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      84126276..84209363 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351657.1 → XP_054207632.1  hyaluronan and proteoglycan link protein 1 isoform X2

    2. XM_054351655.1 → XP_054207630.1  hyaluronan and proteoglycan link protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B2R9A9, P10915

    3. XM_054351656.1 → XP_054207631.1  hyaluronan and proteoglycan link protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B2R9A9, P10915

    4. XM_054351658.1 → XP_054207633.1  hyaluronan and proteoglycan link protein 1 isoform X2

    5. XM_054351654.1 → XP_054207629.1  hyaluronan and proteoglycan link protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B2R9A9, P10915
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P10915.2 GenPept UniProtKB/Swiss-Prot:P10915

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