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

    Gene ID: 1404, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Biased expression in placenta (RPKM 20.1), small intestine (RPKM 4.0) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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

    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)

    NEW Try the new Transcript table

    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_001884.4NP_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:53160
      Ig_LP_like; Immunoglobulin (Ig)-like domain of human cartilage link protein (LP)
      smart00410
      Location:54141
      IG_like; Immunoglobulin like
      cd03518
      Location:159253
      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:260350
      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_017009053.2XP_016864542.1  hyaluronan and proteoglycan link protein 1 isoform X2

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

      UniProtKB/Swiss-Prot
      B2R9A9, P10915
      Conserved Domains (4) summary
      cd05877
      Location:53160
      Ig_LP_like; Immunoglobulin (Ig)-like domain of human cartilage link protein (LP)
      smart00410
      Location:54141
      IG_like; Immunoglobulin like
      cd03518
      Location:159253
      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:260350
      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_017009052.2XP_016864541.1  hyaluronan and proteoglycan link protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B2R9A9, P10915
      Conserved Domains (4) summary
      cd05877
      Location:53160
      Ig_LP_like; Immunoglobulin (Ig)-like domain of human cartilage link protein (LP)
      smart00410
      Location:54141
      IG_like; Immunoglobulin like
      cd03518
      Location:159253
      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:260350
      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_017009054.3XP_016864543.1  hyaluronan and proteoglycan link protein 1 isoform X2

    5. XM_011543168.3XP_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:53160
      Ig_LP_like; Immunoglobulin (Ig)-like domain of human cartilage link protein (LP)
      smart00410
      Location:54141
      IG_like; Immunoglobulin like
      cd03518
      Location:159253
      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:260350
      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_047416737.1XP_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_054351657.1XP_054207632.1  hyaluronan and proteoglycan link protein 1 isoform X2

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

      UniProtKB/Swiss-Prot
      B2R9A9, P10915
    3. XM_054351656.1XP_054207631.1  hyaluronan and proteoglycan link protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B2R9A9, P10915
    4. XM_054351658.1XP_054207633.1  hyaluronan and proteoglycan link protein 1 isoform X2

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

      UniProtKB/Swiss-Prot
      B2R9A9, P10915