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Aliases for HAPLN1 Gene

Aliases for HAPLN1 Gene

  • Hyaluronan And Proteoglycan Link Protein 1 2 3 2
  • CRTL1 3 4 6
  • Cartilage Linking Protein 1 2 3
  • Cartilage-Linking Protein 1 3 4
  • Proteoglycan Link Protein 3 4
  • Cartilage Link Protein 2 3
  • Cartilage-Link Protein 3 4

External Ids for HAPLN1 Gene

Previous HGNC Symbols for HAPLN1 Gene

  • CRTL1

Previous GeneCards Identifiers for HAPLN1 Gene

  • GC05M083020
  • GC05M082972
  • GC05M078141
  • GC05M082933

Summaries for HAPLN1 Gene

GeneCards Summary for HAPLN1 Gene

HAPLN1 (Hyaluronan And Proteoglycan Link Protein 1) is a Protein Coding gene. Diseases associated with HAPLN1 include pseudoachondroplasia. Among its related pathways are ERK Signaling and ERK Signaling. GO annotations related to this gene include hyaluronic acid binding. An important paralog of this gene is VCAN.

UniProtKB/Swiss-Prot for HAPLN1 Gene

  • Stabilizes the aggregates of proteoglycan monomers with hyaluronic acid in the extracellular cartilage matrix

Gene Wiki entry for HAPLN1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HAPLN1 Gene

Genomics for HAPLN1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for HAPLN1 Gene

Start:
83,637,805 bp from pter
End:
83,721,613 bp from pter
Size:
83,809 bases
Orientation:
Minus strand

Genomic View for HAPLN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HAPLN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAPLN1 Gene

Proteins for HAPLN1 Gene

  • Protein details for HAPLN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10915-HPLN1_HUMAN
    Recommended name:
    Hyaluronan and proteoglycan link protein 1
    Protein Accession:
    P10915
    Secondary Accessions:
    • B2R9A9

    Protein attributes for HAPLN1 Gene

    Size:
    354 amino acids
    Molecular mass:
    40166 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HAPLN1 Gene

Proteomics data for HAPLN1 Gene at MOPED

Post-translational modifications for HAPLN1 Gene

  • Glycosylation at Asn21 and Asn56
  • Modification sites at PhosphoSitePlus

Other Protein References for HAPLN1 Gene

Antibody Products

No data available for DME Specific Peptides for HAPLN1 Gene

Domains for HAPLN1 Gene

Gene Families for HAPLN1 Gene

HGNC:
  • VSET :Immunoglobulin superfamily / V-set domain containing

Suggested Antigen Peptide Sequences for HAPLN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P10915

UniProtKB/Swiss-Prot:

HPLN1_HUMAN :
  • P10915
Domain:
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
  • Contains 2 Link domains.
Family:
  • Belongs to the HAPLN family.
genes like me logo Genes that share domains with HAPLN1: view

Function for HAPLN1 Gene

Molecular function for HAPLN1 Gene

UniProtKB/Swiss-Prot Function:
Stabilizes the aggregates of proteoglycan monomers with hyaluronic acid in the extracellular cartilage matrix

Gene Ontology (GO) - Molecular Function for HAPLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IBA --
GO:0005515 protein binding --
GO:0005540 hyaluronic acid binding IBA --
genes like me logo Genes that share ontologies with HAPLN1: view
genes like me logo Genes that share phenotypes with HAPLN1: view

Animal Models for HAPLN1 Gene

MGI Knock Outs for HAPLN1:

Animal Model Products

miRNA for HAPLN1 Gene

miRTarBase miRNAs that target HAPLN1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HAPLN1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for HAPLN1 Gene

Localization for HAPLN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAPLN1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HAPLN1 Gene COMPARTMENTS Subcellular localization image for HAPLN1 gene
Compartment Confidence
extracellular 5
cytosol 2
lysosome 1

Gene Ontology (GO) - Cellular Components for HAPLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0016020 membrane --
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
genes like me logo Genes that share ontologies with HAPLN1: view

Pathways for HAPLN1 Gene

genes like me logo Genes that share pathways with HAPLN1: view

Pathways by source for HAPLN1 Gene

1 GeneGo (Thomson Reuters) pathway for HAPLN1 Gene
1 R&D Systems pathway for HAPLN1 Gene

Gene Ontology (GO) - Biological Process for HAPLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IBA --
GO:0007155 cell adhesion IBA --
GO:0007417 central nervous system development IBA --
GO:0030198 extracellular matrix organization TAS --
GO:0098779 activation of mitophagy in response to mitochondrial depolarization IMP 22020285
genes like me logo Genes that share ontologies with HAPLN1: view

Compounds for HAPLN1 Gene

(1) HMDB Compounds for HAPLN1 Gene

Compound Synonyms Cas Number PubMed IDs
Hyaluronic acid
  • hyaluronic acid
9004-61-9

(7) Novoseek inferred chemical compound relationships for HAPLN1 Gene

Compound -log(P) Hits PubMed IDs
neurocan 80 4
hyaluronic acid 66.2 12
keratan sulfate 50.8 2
guanidine hydrochloride 40.7 3
chondroitin sulfate 40.6 1
genes like me logo Genes that share compounds with HAPLN1: view

Transcripts for HAPLN1 Gene

Unigene Clusters for HAPLN1 Gene

Hyaluronan and proteoglycan link protein 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HAPLN1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HAPLN1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b
SP1: - - - -
SP2: -
SP3:
SP4: - - -
SP5: - -
SP6:

Relevant External Links for HAPLN1 Gene

GeneLoc Exon Structure for
HAPLN1
ECgene alternative splicing isoforms for
HAPLN1

Expression for HAPLN1 Gene

mRNA expression in normal human tissues for HAPLN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HAPLN1 Gene

This gene is overexpressed in Artery - Aorta (10.0) and Artery - Coronary (9.2).

Protein differential expression in normal tissues for HAPLN1 Gene

This gene is overexpressed in Amniocyte (13.8), Frontal cortex (10.9), Synovial fluid (10.5), Brain (8.1), Bone marrow mesenchymal stem cell (7.1), and Vitreous humor (6.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HAPLN1 Gene

SOURCE GeneReport for Unigene cluster for HAPLN1 Gene Hs.2799

mRNA Expression by UniProt/SwissProt for HAPLN1 Gene

P10915-HPLN1_HUMAN
Tissue specificity: Widely expressed. Weakly expressed in the brain.
genes like me logo Genes that share expressions with HAPLN1: view

In Situ Assay Products

No data available for Expression partners for HAPLN1 Gene

Orthologs for HAPLN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HAPLN1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HAPLN1 35
  • 92.75 (n)
  • 96.33 (a)
HAPLN1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HAPLN1 35
  • 93.03 (n)
  • 95.48 (a)
HAPLN1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hapln1 35
  • 89.08 (n)
  • 96.33 (a)
Hapln1 16
Hapln1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HAPLN1 35
  • 99.62 (n)
  • 99.44 (a)
HAPLN1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hapln1 35
  • 88.7 (n)
  • 95.48 (a)
oppossum
(Monodelphis domestica)
Mammalia HAPLN1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAPLN1 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves HAPLN1 35
  • 81.07 (n)
  • 85.03 (a)
HAPLN1 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HAPLN1 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hapln1 35
  • 76.38 (n)
  • 81.14 (a)
zebrafish
(Danio rerio)
Actinopterygii hapln1b 35
  • 70.08 (n)
  • 75.44 (a)
hapln1b 36
  • 74 (a)
OneToOne
Species with no ortholog for HAPLN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HAPLN1 Gene

ENSEMBL:
Gene Tree for HAPLN1 (if available)
TreeFam:
Gene Tree for HAPLN1 (if available)

Paralogs for HAPLN1 Gene

Paralogs for HAPLN1 Gene

Selected SIMAP similar genes for HAPLN1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with HAPLN1: view

Variants for HAPLN1 Gene

Sequence variations from dbSNP and Humsavar for HAPLN1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs11310 -- 83,641,223(-) GTATC(C/T)TTTCA utr-variant-3-prime
rs16898 -- 83,690,330(+) GATCA(C/T)AAAAG intron-variant
rs170880 -- 83,670,372(-) AATAC(C/T)TCTAC intron-variant
rs173053 -- 83,670,235(-) TTTAC(A/G)TGGAG intron-variant
rs173054 -- 83,670,120(-) CTCTT(C/T)AAAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HAPLN1 Gene

Variant ID Type Subtype PubMed ID
nsv830367 CNV Gain+Loss 17160897
nsv4904 CNV Insertion 18451855
nsv327409 CNV Loss 16902084
esv2660307 CNV Deletion 23128226
esv2730402 CNV Deletion 23290073
nsv882248 CNV Gain 21882294

Relevant External Links for HAPLN1 Gene

HapMap Linkage Disequilibrium report
HAPLN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HAPLN1 Gene

Disorders for HAPLN1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for HAPLN1 Gene in MalaCards »

(1) Diseases for HAPLN1 Gene including...

(6) Novoseek inferred disease relationships for HAPLN1 Gene

Disease -log(P) Hits PubMed IDs
osteoarthritis 50.9 4
arthritis juvenile rheumatoid 34 3
rheumatoid arthritis 29.4 2
arthritis 25.5 3
necrosis 0 1

Relevant External Links for HAPLN1

Genetic Association Database (GAD)
HAPLN1
Human Genome Epidemiology (HuGE) Navigator
HAPLN1
genes like me logo Genes that share disorders with HAPLN1: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES and Genatlas for HAPLN1 Gene

Publications for HAPLN1 Gene

  1. Complete amino acid sequence of human cartilage link protein (CRTL1) deduced from cDNA clones and chromosomal assignment of the gene. (PMID: 2286376) Osborne-Lawrence S.L. … Duby A.D. (Genomics 1990) 2 3 4 23
  2. A hyaluronan binding link protein gene family whose members are physically linked adjacent to chondroitin sulfate proteoglycan core protein genes: the missing links. (PMID: 12663660) Spicer A.P. … Bowling R.A. Jr. (J. Biol. Chem. 2003) 3 4 23
  3. The brain link protein-1 (BRAL1): cDNA cloning, genomic structure, and characterization as a novel link protein expressed in adult brain. (PMID: 11027579) Hirakawa S. … Ninomiya Y. (Biochem. Biophys. Res. Commun. 2000) 3 4 23
  4. The primary structure of human cartilage link protein. (PMID: 2320422) Dudhia J. … Hardingham T.E. (Nucleic Acids Res. 1990) 2 3 4
  5. The primary structure of human cartilage link protein. (PMID: 2336413) Dudhia J. … Hardingham T.E. (Nucleic Acids Res. 1990) 3 4

Products for HAPLN1 Gene

Sources for HAPLN1 Gene

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