HAPLN1 (hyaluronan and proteoglycan link protein 1)

Gene

• Entrez ID: 1404
• Gene name: Hyaluronan and proteoglycan link protein 1
• Gene symbol: HAPLN1
• Synonyms (NCBI Gene): CRT1, CRTL1
• Chromosome: 5
• Chromosome location: 5q14.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017946	hsa-miR-335-5p	Microarray	18185580
MIRT030924	hsa-miR-21-5p	Microarray	18591254
MIRT623717	hsa-miR-23a-3p	HITS-CLIP	23824327
MIRT623716	hsa-miR-23c	HITS-CLIP	23824327
MIRT623715	hsa-miR-23b-3p	HITS-CLIP	23824327
MIRT623714	hsa-miR-130a-5p	HITS-CLIP	23824327
MIRT623713	hsa-miR-4717-3p	HITS-CLIP	23824327
MIRT623712	hsa-miR-3148	HITS-CLIP	23824327
MIRT623711	hsa-miR-6124	HITS-CLIP	23824327
MIRT623710	hsa-miR-3978	HITS-CLIP	23824327
MIRT623709	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT623717	hsa-miR-23a-3p	HITS-CLIP	23824327
MIRT623716	hsa-miR-23c	HITS-CLIP	23824327
MIRT623715	hsa-miR-23b-3p	HITS-CLIP	23824327
MIRT623714	hsa-miR-130a-5p	HITS-CLIP	23824327
MIRT623713	hsa-miR-4717-3p	HITS-CLIP	23824327
MIRT623712	hsa-miR-3148	HITS-CLIP	23824327
MIRT623711	hsa-miR-6124	HITS-CLIP	23824327
MIRT623710	hsa-miR-3978	HITS-CLIP	23824327
MIRT623709	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT1040660	hsa-miR-125a-5p	CLIP-seq
MIRT1040661	hsa-miR-125b	CLIP-seq
MIRT1040662	hsa-miR-1284	CLIP-seq
MIRT1040663	hsa-miR-1303	CLIP-seq
MIRT1040664	hsa-miR-133a	CLIP-seq
MIRT1040665	hsa-miR-146b-3p	CLIP-seq
MIRT1040666	hsa-miR-153	CLIP-seq
MIRT1040667	hsa-miR-203	CLIP-seq
MIRT1040668	hsa-miR-29a	CLIP-seq
MIRT1040669	hsa-miR-29b	CLIP-seq
MIRT1040670	hsa-miR-29c	CLIP-seq
MIRT1040671	hsa-miR-3065-3p	CLIP-seq
MIRT1040672	hsa-miR-3162-5p	CLIP-seq
MIRT1040673	hsa-miR-3163	CLIP-seq
MIRT1040674	hsa-miR-3173-5p	CLIP-seq
MIRT1040675	hsa-miR-331-5p	CLIP-seq
MIRT1040676	hsa-miR-337-3p	CLIP-seq
MIRT1040677	hsa-miR-3609	CLIP-seq
MIRT1040678	hsa-miR-369-3p	CLIP-seq
MIRT1040679	hsa-miR-374a	CLIP-seq
MIRT1040680	hsa-miR-374b	CLIP-seq
MIRT1040681	hsa-miR-380	CLIP-seq
MIRT1040682	hsa-miR-383	CLIP-seq
MIRT1040683	hsa-miR-410	CLIP-seq
MIRT1040684	hsa-miR-4273	CLIP-seq
MIRT1040685	hsa-miR-4319	CLIP-seq
MIRT1040686	hsa-miR-448	CLIP-seq
MIRT1040687	hsa-miR-4677-5p	CLIP-seq
MIRT1040688	hsa-miR-4678	CLIP-seq
MIRT1040689	hsa-miR-4684-3p	CLIP-seq
MIRT1040690	hsa-miR-4714-3p	CLIP-seq
MIRT1040691	hsa-miR-4729	CLIP-seq
MIRT1040692	hsa-miR-4772-5p	CLIP-seq
MIRT1040693	hsa-miR-4775	CLIP-seq
MIRT1040694	hsa-miR-490-5p	CLIP-seq
MIRT1040695	hsa-miR-544	CLIP-seq
MIRT1040696	hsa-miR-548ah	CLIP-seq
MIRT1040697	hsa-miR-548t	CLIP-seq
MIRT1040698	hsa-miR-582-5p	CLIP-seq
MIRT1040699	hsa-miR-605	CLIP-seq
MIRT1040700	hsa-miR-617	CLIP-seq
MIRT1040701	hsa-miR-874	CLIP-seq
MIRT1040702	hsa-miR-940	CLIP-seq
MIRT1549444	hsa-miR-1197	CLIP-seq
MIRT1549445	hsa-miR-548p	CLIP-seq
MIRT1040666	hsa-miR-153	CLIP-seq
MIRT1040686	hsa-miR-448	CLIP-seq
MIRT1040698	hsa-miR-582-5p	CLIP-seq
MIRT1040664	hsa-miR-133a	CLIP-seq
MIRT2240960	hsa-miR-2116	CLIP-seq
MIRT2240961	hsa-miR-23a	CLIP-seq
MIRT2240962	hsa-miR-23b	CLIP-seq
MIRT2240963	hsa-miR-3149	CLIP-seq
MIRT2240964	hsa-miR-4328	CLIP-seq
MIRT2240965	hsa-miR-4496	CLIP-seq
MIRT2240966	hsa-miR-4652-3p	CLIP-seq
MIRT1040687	hsa-miR-4677-5p	CLIP-seq
MIRT2450951	hsa-miR-3147	CLIP-seq
MIRT2450952	hsa-miR-3682-3p	CLIP-seq
MIRT2450953	hsa-miR-4425	CLIP-seq
MIRT2450954	hsa-miR-450b-3p	CLIP-seq
MIRT2450955	hsa-miR-769-3p	CLIP-seq
MIRT2450951	hsa-miR-3147	CLIP-seq
MIRT2450952	hsa-miR-3682-3p	CLIP-seq
MIRT2450953	hsa-miR-4425	CLIP-seq
MIRT2450954	hsa-miR-450b-3p	CLIP-seq
MIRT2450955	hsa-miR-769-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IBA
GO:0005540	Function	Hyaluronic acid binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007417	Process	Central nervous system development	IBA
GO:0030021	Function	Extracellular matrix structural constituent conferring compression resistance	RCA	20551380, 23979707, 27068509, 28327460
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23979707, 27068509, 28327460
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	TAS	2286376
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0072534	Component	Perineuronal net	IBA

Other IDs

• MIM: 115435
• HGNC: 2380
• e!Ensembl: ENSG00000145681

Protein

• UniProt ID: P10915
• Protein name: Hyaluronan and proteoglycan link protein 1 (Cartilage-linking protein 1) (Cartilage-link protein) (Proteoglycan link protein)
• Protein function: Stabilizes the aggregates of proteoglycan monomers with hyaluronic acid in the extracellular cartilage matrix.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07686	V-set	44 → 152	Immunoglobulin V-set domain	Domain
  PF00193	Xlink	159 → 253	Extracellular link domain	Domain
  PF00193	Xlink	260 → 350	Extracellular link domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Weakly expressed in the brain. {ECO:0000269|PubMed:11027579, ECO:0000269|PubMed:12663660}.
• Sequence:

  MKSLLLLVLISICWADHLSDNYTLDHDRAIHIQAENGPHLLVEAEQAKVFSHRGGNVTLP
  CKFYRDPTAFGSGIHKIRIKWTKLTSDYLKEVDVFVSMGYHKKTYGGYQGRVFLKGGSDS
  DASLVITDLTLEDYGRYKCEVIEGLEDDTVVVALDLQGVVFPYFPRLGRYNLNFHEAQQA
  CLDQDAVIASFDQLYDAWRGGLDWCNAGWLSDGSVQYPITKPREPCGGQNTVPGVRNYGF
  WDKDKSRYDVFCFTSNFNGRFYYLIHPTKLTYDEAVQACLNDGAQIAKVGQIFAAWKILG
  YDRCDAGWLADGSVRYPISRPRRRCSPTEAAVRFVGFPDKKHKLYGVYCFRAYN

• Sequence length: 354

Pathways

Reactome:

ECM proteoglycans

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DWARFISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB DEFORMITIES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	36982604	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	23308121		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	7632088	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	35720292	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	32383346	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27191501	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33434215	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30106144		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	20953637, 26973327	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17112382		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	17112382		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	21278247		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20126641, 35395711	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	21278247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29805586		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	9336408		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	CTD_human_DG	9988279		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma Open Angle	Open angle glaucoma	Pubtator	19145252	Associate	★☆☆☆☆ Found in Text Mining only
Hyaloideoretinal degeneration of Wagner	Wagner syndrome	BEFREE	10198161		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	20953637		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	20953637	Associate	★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	28818737		★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	CTD_human_DG	9988279		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	27191501		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30894353, 40311306	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19351750		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30106144		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17112382		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23056502	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	19351750		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	19351750	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	19351750	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	29279332		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	35604822	Stimulate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	30106144	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19351750		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	23748413	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	26973327, 35896673	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Spine	Osteoarthritis	Pubtator	20953637	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30106144		★☆☆☆☆ Found in Text Mining only
Pseudoachondroplasia	Pseudoachondroplasia	BEFREE	1442879		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	17568789		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	30106667		★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	BEFREE	9258750		★☆☆☆☆ Found in Text Mining only