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Aliases for HAPLN1 Gene

Aliases for HAPLN1 Gene

  • Hyaluronan And Proteoglycan Link Protein 1 2 2 3 5
  • Cartilage-Linking Protein 1 3 4
  • Proteoglycan Link Protein 3 4
  • Cartilage Link Protein 2 3
  • Cartilage-Link Protein 3 4
  • CRTL1 3 4
  • Cartilage Linking Protein 1 2
  • CRT1 3

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 Cerebral Creatine Deficiency Syndrome 3 and Sleep Disorder. Among its related pathways are Integrin Pathway and Cell adhesion_Cell-matrix glycoconjugates. GO annotations related to this gene include extracellular matrix structural constituent and hyaluronic acid binding. An important paralog of this gene is HAPLN3.

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

Regulatory Elements for HAPLN1 Gene

Enhancers for HAPLN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around HAPLN1 on UCSC Golden Path with GeneCards custom track

Promoters for HAPLN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HAPLN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HAPLN1 Gene

Chromosome:
5
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

Genes around HAPLN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HAPLN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for HAPLN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HAPLN1 Gene

Antibody Products

No data available for DME Specific Peptides for HAPLN1 Gene

Domains & Families for HAPLN1 Gene

Gene Families for HAPLN1 Gene

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 :
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
  • Belongs to the HAPLN family.
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: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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
lysosome 1
nucleus 1
vacuole 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:0031012 colocalizes_with extracellular matrix IDA 20551380
genes like me logo Genes that share ontologies with HAPLN1: view

Pathways & Interactions for HAPLN1 Gene

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

Pathways by source for HAPLN1 Gene

2 Reactome pathways for HAPLN1 Gene
1 GeneGo (Thomson Reuters) 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 mitophagy in response to mitochondrial depolarization IGI 22020285
genes like me logo Genes that share ontologies with HAPLN1: view

No data available for SIGNOR curated interactions for HAPLN1 Gene

Drugs & Compounds for HAPLN1 Gene

(3) Drugs for HAPLN1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hyaluronic acid Approved, Vet_approved Pharma Target, binder 419

(4) Additional Compounds for HAPLN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

CRISPR Products

Inhibitory RNA Products

Clone 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 (x10.0) and Artery - Coronary (x9.2).

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HAPLN1 Gene



NURSA nuclear receptor signaling pathways regulating expression of HAPLN1 Gene:

HAPLN1

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 expression patterns with HAPLN1: view

Primer Products

No data available for Protein tissue co-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 34
  • 92.75 (n)
  • 96.33 (a)
HAPLN1 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HAPLN1 34
  • 93.03 (n)
  • 95.48 (a)
HAPLN1 35
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hapln1 34
  • 89.08 (n)
  • 96.33 (a)
Hapln1 16
Hapln1 35
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HAPLN1 34
  • 99.62 (n)
  • 99.44 (a)
HAPLN1 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hapln1 34
  • 88.7 (n)
  • 95.48 (a)
oppossum
(Monodelphis domestica)
Mammalia HAPLN1 35
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAPLN1 35
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves HAPLN1 34
  • 81.07 (n)
  • 85.03 (a)
HAPLN1 35
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HAPLN1 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hapln1 34
  • 76.38 (n)
  • 81.14 (a)
zebrafish
(Danio rerio)
Actinopterygii hapln1b 34
  • 70.08 (n)
  • 75.44 (a)
hapln1b 35
  • 74 (a)
OneToOne
Species where no ortholog for HAPLN1 was found in the sources mined by GeneCards:
  • 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

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
VAR_036168 A colorectal cancer sample
rs6864342 - 83,641,719(+) CATCA(C/T)TGAGA reference, missense
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
esv2660307 CNV deletion 23128226
esv2730402 CNV deletion 23290073
esv3605639 CNV loss 21293372
nsv1015852 CNV gain 25217958
nsv327409 CNV deletion 16902084
nsv4904 CNV insertion 18451855
nsv830367 CNV gain+loss 17160897

Variation tolerance for HAPLN1 Gene

Residual Variation Intolerance Score: 68.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.02; 21.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HAPLN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HAPLN1

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

Disorders for HAPLN1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for HAPLN1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cerebral creatine deficiency syndrome 3
  • agat deficiency
sleep disorder
  • non-organic sleep disorder
cerebral creatine deficiency syndrome 2
  • guanidinoacetate methyltransferase deficiency
cerebral creatine deficiency syndrome
  • cerebral creatine deficiency syndromes
narcolepsy
  • narcolepsy, without cataplexy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HAPLN1

Genetic Association Database (GAD)
HAPLN1
Human Genome Epidemiology (HuGE) Navigator
HAPLN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HAPLN1
genes like me logo Genes that share disorders with HAPLN1: view

No data available for UniProtKB/Swiss-Prot 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 22 65
  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 22 65
  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 22 65
  4. The primary structure of human cartilage link protein. (PMID: 2320422) Dudhia J. … Hardingham T.E. (Nucleic Acids Res. 1990) 2 3 4 65
  5. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu C.Y. … Christiani D.C. (Carcinogenesis 2010) 3 46 65

Products for HAPLN1 Gene

Sources for HAPLN1 Gene

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