Hapln1 hyaluronan and proteoglycan link protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hapln1provided by MGI
Official Full Name: hyaluronan and proteoglycan link protein 1provided by MGI
Primary source: MGI:MGI:1337006
See related: Ensembl:ENSMUSG00000021613 AllianceGenome:MGI:1337006
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: LP; CLP; LP-1; Crtl1; Crtl1l
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 extracellular matrix. Is active in synapse. Is expressed in several structures, including brain; cartilage; genitourinary system; heart; and limb. Used to study spondyloepiphyseal dysplasia congenita. Orthologous to human HAPLN1 (hyaluronan and proteoglycan link protein 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in limb E14.5 (RPKM 38.8), CNS E14 (RPKM 5.4) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 C3; 13 45.5 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (89688654..89759951)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (89540529..89611832)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Link Protein 1 Is Involved in the Activity-Dependent Modulation of Perineuronal Nets in the Spinal Cord.
Title: Link Protein 1 Is Involved in the Activity-Dependent Modulation of Perineuronal Nets in the Spinal Cord.
Age-dependent loss of HAPLN1 erodes vascular integrity via indirect upregulation of endothelial ICAM1 in melanoma.
Title: Age-dependent loss of HAPLN1 erodes vascular integrity via indirect upregulation of endothelial ICAM1 in melanoma.
Hyaluronan and Proteoglycan Link Protein 1 Activates the BMP4/Smad1/5/8 Signaling Pathway to Promote Osteogenic Differentiation: an Implication in Fracture Healing.
Title: Hyaluronan and Proteoglycan Link Protein 1 Activates the BMP4/Smad1/5/8 Signaling Pathway to Promote Osteogenic Differentiation: an Implication in Fracture Healing.
ASPN Synergizes with HAPLN1 to Inhibit the Osteogenic Differentiation of Bone Marrow Mesenchymal Stromal Cells and Extracellular Matrix Mineralization of Osteoblasts.
Title: ASPN Synergizes with HAPLN1 to Inhibit the Osteogenic Differentiation of Bone Marrow Mesenchymal Stromal Cells and Extracellular Matrix Mineralization of Osteoblasts.
Selective Disruption of Perineuronal Nets in Mice Lacking Crtl1 is Sufficient to Make Fear Memories Susceptible to Erasure.
Title: Selective Disruption of Perineuronal Nets in Mice Lacking Crtl1 is Sufficient to Make Fear Memories Susceptible to Erasure.
HAPLN1 potentiates peritoneal metastasis in pancreatic cancer.
Title: HAPLN1 potentiates peritoneal metastasis in pancreatic cancer.
Findings establish promoter regions within the hyaluronan and proteoglycan link protein 1 (link protein) gene that are important for in vivo expression and identify the potential role of homeodomain-containing proteins in controlling cartilage and limb gene expression.
Title: Analysis of a limb-specific regulatory element in the promoter of the link protein gene.
A novel role of HAPLN1 loss was reported in the aging lymphatic ECM in mediating lymphatic endothelial permeability, thus permitting melanoma cells to escape from the lymphatic system to distant metastatic sites.
Title: Age-Related Changes in HAPLN1 Increase Lymphatic Permeability and Affect Routes of Melanoma Metastasis.
Aggrecan, link protein and TN-R were identified to be essential for the neuroprotective properties of the perineuronal net.
Title: Aggrecan, link protein and tenascin-R are essential components of the perineuronal net to protect neurons against iron-induced oxidative stress.
Mef2c regulates transcription of the extracellular matrix protein cartilage link protein 1 in the developing murine heart.
Title: Mef2c regulates transcription of the extracellular matrix protein cartilage link protein 1 in the developing murine heart.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI465370 (e-PCR)
- UniSTS:159493

BE103548 (e-PCR)
- UniSTS:244847

BB099155 (e-PCR)
- UniSTS:185979

NoName (e-PCR)
- UniSTS:235423

Crtl1 (e-PCR), detects polymorphism
- UniSTS:158685

Gene Ontology Provided by MGI

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
involved_in skeletal system development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
is_active_in perineuronal net	IBA Inferred from Biological aspect of Ancestor more info
is_active_in synapse	EXP Inferred from Experiment more info	PubMed
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
is_active_in synapse	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: hyaluronan and proteoglycan link protein 1

Names: cartilage link protein 1; cartilage-link protein; cartilage-linking protein 1; link protein; 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)

NM_013500.4 → NP_038528.3 hyaluronan and proteoglycan link protein 1 precursor

See identical proteins and their annotated locations for NP_038528.3

Status: VALIDATED

Source sequence(s)

AC154460, AK032750

Consensus CDS

CCDS26671.1

UniProtKB/Swiss-Prot

Q9D1G9, Q9QUP5, Q9Z1X7

Related

ENSMUSP00000022108.8, ENSMUST00000022108.9

Conserved Domains (4) summary

cd05877
Location:55 → 162

Ig_LP_like; Immunoglobulin (Ig)-like domain of human cartilage link protein (LP)

smart00410
Location:56 → 157

IG_like; Immunoglobulin like

cd03518
Location:161 → 255

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:262 → 352

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_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

89688654..89759951

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006517075.5 → XP_006517138.1 hyaluronan and proteoglycan link protein 1 isoform X1

Conserved Domains (3) summary

cd05877
Location:54 → 161

Ig_LP_like; Immunoglobulin (Ig)-like domain of human cartilage link protein (LP)

cd03518
Location:160 → 254

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 domain. HAPLNs contain two ...

cd03519
Location:261 → 351

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 HA-binding domain. HAPLNs contain two ...