Human Gene HAPLN1 (ENST00000274341.9) from GENCODE V44
  Description: Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA. (from RefSeq NM_001884)
Gencode Transcript: ENST00000274341.9
Gencode Gene: ENSG00000145681.11
Transcript (Including UTRs)
   Position: hg38 chr5:83,637,805-83,720,855 Size: 83,051 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr5:83,641,496-83,673,523 Size: 32,028 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:83,637,805-83,720,855)mRNA (may differ from genome)Protein (354 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HPLN1_HUMAN
DESCRIPTION: RecName: Full=Hyaluronan and proteoglycan link protein 1; AltName: Full=Cartilage-linking protein 1; Short=Cartilage-link protein; AltName: Full=Proteoglycan link protein; Flags: Precursor;
FUNCTION: Stabilizes the aggregates of proteoglycan monomers with hyaluronic acid in the extracellular cartilage matrix.
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
TISSUE SPECIFICITY: Widely expressed. Weakly expressed in the brain.
SIMILARITY: Belongs to the HAPLN family.
SIMILARITY: Contains 1 Ig-like V-type (immunoglobulin-like) domain.
SIMILARITY: Contains 2 Link domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HAPLN1
Diseases sorted by gene-association score: cerebral creatine deficiency syndrome 3 (2), rheumatoid arthritis, systemic juvenile (2), sleep disorder (2), cerebral creatine deficiency syndrome (2), cerebral creatine deficiency syndrome 2 (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.29 RPKM in Artery - Aorta
Total median expression: 11.11 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -17.8093-0.191 Picture PostScript Text
3' UTR -751.903691-0.204 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016186 - C-type_lectin-like
IPR016187 - C-type_lectin_fold
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR013106 - Ig_V-set
IPR003596 - Ig_V-set_subgr
IPR000538 - Link

Pfam Domains:
PF07686 - Immunoglobulin V-set domain
PF00193 - Extracellular link domain

ModBase Predicted Comparative 3D Structure on P10915
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005201 extracellular matrix structural constituent
GO:0005540 hyaluronic acid binding

Biological Process:
GO:0001501 skeletal system development
GO:0007155 cell adhesion
GO:0007417 central nervous system development
GO:0030198 extracellular matrix organization

Cellular Component:
GO:0005576 extracellular region
GO:0031012 extracellular matrix


-  Descriptions from all associated GenBank mRNAs
  LP896369 - Sequence 1233 from Patent EP3253886.
U43328 - Human link protein mRNA, complete cds.
BC057808 - Homo sapiens hyaluronan and proteoglycan link protein 1, mRNA (cDNA clone MGC:71729 IMAGE:30341037), complete cds.
M63579 - Human cartilage link protein (CRTL1) mRNA, 3' UT region.
X17405 - Human mRNA for cartilage link protein.
X78076 - H.sapiens CRTL1 gene exons 1, 2, 3, 4 and 5.
JD258579 - Sequence 239603 from Patent EP1572962.
AK313713 - Homo sapiens cDNA, FLJ94306, Homo sapiens cartilage linking protein 1 (CRTL1), mRNA.
HQ448513 - Synthetic construct Homo sapiens clone IMAGE:100071947; CCSB010863_01 hyaluronan and proteoglycan link protein 1 (HAPLN1) gene, encodes complete protein.
AB529151 - Synthetic construct DNA, clone: pF1KB5236, Homo sapiens HAPLN1 gene for hyaluronan and proteoglycan link protein 1, without stop codon, in Flexi system.
CU691246 - Synthetic construct Homo sapiens gateway clone IMAGE:100021077 5' read HAPLN1 mRNA.
X78075 - H.sapiens CRTL1 gene exon 1.
JD266298 - Sequence 247322 from Patent EP1572962.
JD380401 - Sequence 361425 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P10915 (Reactome details) participates in the following event(s):

R-HSA-2318623 Aggrecan binds Hyaluronan and HAPLN1
R-HSA-3000178 ECM proteoglycans
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: B2R9A9, CRTL1, ENST00000274341.1, ENST00000274341.2, ENST00000274341.3, ENST00000274341.4, ENST00000274341.5, ENST00000274341.6, ENST00000274341.7, ENST00000274341.8, HPLN1_HUMAN, NM_001884, P10915, uc003kin.1, uc003kin.2, uc003kin.3, uc003kin.4, uc003kin.5
UCSC ID: ENST00000274341.9
RefSeq Accession: NM_001884
Protein: P10915 (aka HPLN1_HUMAN or HPL1_HUMAN)
CCDS: CCDS4061.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.