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

Gene ID: 1404, updated on 8-Jul-2021

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
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
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
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (83637805..83721210, complement)
105.20201022 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 versican Neighboring gene uncharacterized LOC107986431 Neighboring gene VCAN antisense RNA 1 Neighboring gene RN7SK pseudogene 295 Neighboring gene uncharacterized LOC105379055 Neighboring gene RNA, U6 small nuclear 620, pseudogene 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

Associated conditions

Description Tests
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
GeneReviews: Not available
A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.
GeneReviews: Not available
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables extracellular matrix structural constituent conferring compression resistance RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
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
PubMed 
involved_in skeletal system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

NEW Try the new Transcript table

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
    P10915
    UniProtKB/TrEMBL
    A0A024RAK9
    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: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    83637805..83721210 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009051.1XP_016864540.1  hyaluronan and proteoglycan link protein 1 isoform X1

    UniProtKB/Swiss-Prot
    P10915
    UniProtKB/TrEMBL
    A0A024RAK9
    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 ...
  2. XM_017009053.1XP_016864542.1  hyaluronan and proteoglycan link protein 1 isoform X2

  3. XM_017009052.1XP_016864541.1  hyaluronan and proteoglycan link protein 1 isoform X1

    UniProtKB/Swiss-Prot
    P10915
    UniProtKB/TrEMBL
    A0A024RAK9
    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_017009054.2XP_016864543.1  hyaluronan and proteoglycan link protein 1 isoform X2

  5. XM_011543168.2XP_011541470.1  hyaluronan and proteoglycan link protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011541470.1

    UniProtKB/Swiss-Prot
    P10915
    UniProtKB/TrEMBL
    A0A024RAK9
    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 ...
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