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    HAPLN3 hyaluronan and proteoglycan link protein 3 [ Homo sapiens (human) ]

    Gene ID: 145864, updated on 28-Oct-2024

    Summary

    Official Symbol
    HAPLN3provided by HGNC
    Official Full Name
    hyaluronan and proteoglycan link protein 3provided by HGNC
    Primary source
    HGNC:HGNC:21446
    See related
    Ensembl:ENSG00000140511 AllianceGenome:HGNC:21446
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EXLD1; HsT19883
    Summary
    This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in lymph node (RPKM 11.8), appendix (RPKM 10.0) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HAPLN3 in Genome Data Viewer
    Location:
    15q26.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (88877294..88895544, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (86631937..86650187, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (89420525..89438775, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 1748 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89181184-89182162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89182163-89183141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89191225-89191986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10034 Neighboring gene interferon stimulated exonuclease gene 20 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10035 Neighboring gene uncharacterized LOC105370960 Neighboring gene aggrecan Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89390146-89390646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89390647-89391147 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:89391205-89391372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89421781-89422356 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:89428493-89429204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89438001-89438612 Neighboring gene Sharpr-MPRA regulatory region 11373 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89450127-89451112 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89455820-89456351 Neighboring gene CRISPRi-validated cis-regulatory element chr15.3122 Neighboring gene CRISPRi-validated cis-regulatory element chr15.3123 Neighboring gene CRISPRi-validated cis-regulatory element chr15.3124 Neighboring gene milk fat globule EGF and factor V/VIII domain containing Neighboring gene non-histone chromosomal protein HMG-14-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10037 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10038

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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
    located_in extracellular space HDA PubMed 
    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 3
    Names
    extracellular link domain containing, 1
    NP_001294881.1
    NP_839946.1
    XP_011519563.1
    XP_016877423.1
    XP_047288128.1
    XP_047288129.1
    XP_047288130.1
    XP_047288131.1
    XP_054233307.1
    XP_054233308.1
    XP_054233309.1
    XP_054233310.1
    XP_054233311.1
    XP_054233312.1

    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_001307952.2NP_001294881.1  hyaluronan and proteoglycan link protein 3 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC103982, BC062320
      Consensus CDS
      CCDS76790.1
      UniProtKB/TrEMBL
      A8K7T8, H3BTH8
      Related
      ENSP00000457180.1, ENST00000562889.5
      Conserved Domains (4) summary
      cd05877
      Location:124229
      Ig_LP_like; Immunoglobulin (Ig)-like domain of human cartilage link protein (LP)
      smart00410
      Location:125224
      IG_like; Immunoglobulin like
      cd03518
      Location:228322
      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:329419
      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 ...
    2. NM_178232.4NP_839946.1  hyaluronan and proteoglycan link protein 3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_839946.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' UTR and coding region which results in the use of a dowstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AK292103, AY262759
      Consensus CDS
      CCDS10346.1
      UniProtKB/Swiss-Prot
      A8K7P0, Q96S86
      UniProtKB/TrEMBL
      A8K7T8
      Related
      ENSP00000352606.4, ENST00000359595.8
      Conserved Domains (3) summary
      cd05877
      Location:62167
      Ig_LP_like; Immunoglobulin (Ig)-like domain of human cartilage link protein (LP)
      cd03518
      Location:166260
      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:267357
      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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      88877294..88895544 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521261.2XP_011519563.1  hyaluronan and proteoglycan link protein 3 isoform X1

      UniProtKB/TrEMBL
      A8K7T8
      Conserved Domains (4) summary
      cd05877
      Location:106211
      Ig_LP_like; Immunoglobulin (Ig)-like domain of human cartilage link protein (LP)
      smart00410
      Location:107206
      IG_like; Immunoglobulin like
      cd03518
      Location:210304
      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:311401
      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 ...
    2. XM_017021934.3XP_016877423.1  hyaluronan and proteoglycan link protein 3 isoform X3

    3. XM_047432172.1XP_047288128.1  hyaluronan and proteoglycan link protein 3 isoform X2

      UniProtKB/Swiss-Prot
      A8K7P0, Q96S86
    4. XM_047432173.1XP_047288129.1  hyaluronan and proteoglycan link protein 3 isoform X4

    5. XM_047432175.1XP_047288131.1  hyaluronan and proteoglycan link protein 3 isoform X6

    6. XM_047432174.1XP_047288130.1  hyaluronan and proteoglycan link protein 3 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      86631937..86650187 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377332.1XP_054233307.1  hyaluronan and proteoglycan link protein 3 isoform X1

    2. XM_054377334.1XP_054233309.1  hyaluronan and proteoglycan link protein 3 isoform X3

    3. XM_054377333.1XP_054233308.1  hyaluronan and proteoglycan link protein 3 isoform X2

      UniProtKB/Swiss-Prot
      A8K7P0, Q96S86
    4. XM_054377335.1XP_054233310.1  hyaluronan and proteoglycan link protein 3 isoform X4

    5. XM_054377337.1XP_054233312.1  hyaluronan and proteoglycan link protein 3 isoform X6

    6. XM_054377336.1XP_054233311.1  hyaluronan and proteoglycan link protein 3 isoform X5