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

Gene ID: 1404, updated on 10-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
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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

General gene information

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell adhesion  
involved_in central nervous system development  
involved_in skeletal system development  
Component Evidence Code Pubs
colocalizes_with collagen-containing extracellular matrix PubMed 
located_in collagen-containing extracellular matrix PubMed 
located_in extracellular matrix PubMed 
located_in extracellular region  
is_active_in extracellular space  
is_active_in perineuronal net  
is_active_in synapse  

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)

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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_001884.4NP_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
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