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

Gene ID: 145864, updated on 3-Apr-2024

Summary

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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
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Genomic context

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Location:
15q26.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (88877294..88895544, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (86631937..86650187, complement)
105.20220307 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Significant elevation of CLDN16 and HAPLN3 gene expression in human breast cancer. Kuo SJ, et al. Oncol Rep, 2010 Sep. PMID 20664984
  2. A three-gene DNA methylation biomarker accurately classifies early stage prostate cancer. Patel PG, et al. Prostate, 2019 Oct. PMID 31433512
  3. A hyaluronan binding link protein gene family whose members are physically linked adjacent to chondroitin sulfate proteoglycan core protein genes: the missing links. Spicer AP, et al. J Biol Chem, 2003 Jun 6. PMID 12663660
  4. Candidate gene analysis of the human natural killer-1 carbohydrate pathway and perineuronal nets in schizophrenia: B3GAT2 is associated with disease risk and cortical surface area. Kähler AK, et al. Biol Psychiatry, 2011 Jan 1. PMID 20950796
  5. Human colostrum: identification of minor proteins in the aqueous phase by proteomics. Palmer DJ, et al. Proteomics, 2006 Apr. PMID 16502470

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DNA methylation levels at GAS6(growth arrest specific 6)/GSTP1(glutathione S-transferase pi 1)/HAPLN3(hyaluronan and proteoglycan link protein 3) genomic loci showed large differences between cancer and benign samples
    Title: A three-gene DNA methylation biomarker accurately classifies early stage prostate cancer.
  2. Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
    Title: Candidate gene analysis of the human natural killer-1 carbohydrate pathway and perineuronal nets in schizophrenia: B3GAT2 is associated with disease risk and cortical surface area.
  3. Elevated CLDN16 gene expression was suggested to be involved in the development of breast cancer and to be a biomarker and target treatment for breast cancer.
    Title: Significant elevation of CLDN16 and HAPLN3 gene expression in human breast cancer.
Submit: New GeneRIF Correction

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

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

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 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

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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)

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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_001307952.2 → NP_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:124 → 229
    Ig_LP_like; Immunoglobulin (Ig)-like domain of human cartilage link protein (LP)
    smart00410
    Location:125 → 224
    IG_like; Immunoglobulin like
    cd03518
    Location:228 → 322
    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:329 → 419
    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_178232.4 → NP_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:62 → 167
    Ig_LP_like; Immunoglobulin (Ig)-like domain of human cartilage link protein (LP)
    cd03518
    Location:166 → 260
    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:267 → 357
    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_2023_10

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_011521261.2 → XP_011519563.1  hyaluronan and proteoglycan link protein 3 isoform X1

    UniProtKB/TrEMBL
    A8K7T8
    Conserved Domains (4) summary
    cd05877
    Location:106 → 211
    Ig_LP_like; Immunoglobulin (Ig)-like domain of human cartilage link protein (LP)
    smart00410
    Location:107 → 206
    IG_like; Immunoglobulin like
    cd03518
    Location:210 → 304
    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:311 → 401
    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_017021934.3 → XP_016877423.1  hyaluronan and proteoglycan link protein 3 isoform X3

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

    UniProtKB/Swiss-Prot
    A8K7P0, Q96S86

  4. XM_047432173.1 → XP_047288129.1  hyaluronan and proteoglycan link protein 3 isoform X4

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

  6. XM_047432174.1 → XP_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_054377332.1 → XP_054233307.1  hyaluronan and proteoglycan link protein 3 isoform X1

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

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

    UniProtKB/Swiss-Prot
    A8K7P0, Q96S86

  4. XM_054377335.1 → XP_054233310.1  hyaluronan and proteoglycan link protein 3 isoform X4

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

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96S86.1 GenPept UniProtKB/Swiss-Prot:Q96S86

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