HAPLN1 - hyaluronan and proteoglycan link protein 1 Gene

Homo sapiens

Also known as CRT1; CRTL1

Gene ID: 1404 | Gene type: protein coding

About HAPLN1

Cytogenetic location: 5q14.3 Genomic coordinates (GRCh38): 5:83,637,805-83,720,855 (from NCBI)

This gene has 7 transcripts (splice variants), 206 orthologues and 7 paralogues. Biased expression in placenta (RPKM 20.1), small intestine (RPKM 4.0) and 5 other tissues.

Summary

Predicted to enable hyaluronic acid binding activity. Predicted to be an extracellular matrix structural constituent conferring compression resistance. Predicted to be involved in central nervous system development and skeletal system development. Colocalizes with collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022]

HAPLN1 Products(1)

mRNA	Protein	Name
NM_001884.4	NP_001875.1	hyaluronan and proteoglycan link protein 1 precursor

HAPLN1 Protein Structure

V-set

Xlink

0
100
200
300
354 a.a.

Protein Preferred Names

Protein Names

hyaluronan and proteoglycan link protein 1

Cartilage link protein

Recombinant HAPLN1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76379	HAPLN1 Protein, Human (HEK293, His)	P10915 (D16-N354)	≥95%

Related Diseases

Diseases

Alias

Juvenile Rheumatoid Arthritis

Juvenile Idiopathic Arthritis	Juvenile Chronic Polyarthritis
Monarticular Juvenile Rheumatoid Arthritis	Pauciarticular Juvenile Arthritis
Still'S Disease	Systemic Juvenile Rheumatoid Arthritis
Juvenile Chronic Arthritis	Acute Juvenile Rheumatoid Arthritis
Pauciarticular Onset Juvenile Chronic Arthritis	Arthritis, Juvenile Rheumatoid
Jia	Jra
Juvenile Ra	Arthritis Juvenile Rheumatoid
Stills Disease	Juvenile Arthritis
Acute Polyarticular Juvenile Rheumatoid Arthritis	Pauciarticular Juvenile Rheumatoid Arthritis
Rheumatoid Arthritis, Systemic Juvenile

Cerebral Creatine Deficiency Syndrome

Deficiency, Cerebral Creatine, Syndrome

Cerebral Creatine Deficiency Syndrome 1

Creatine Transporter Deficiency	Creatine Transporter Defect
Slc6a8 Deficiency	X-Linked Creatine Deficiency Syndrome
CCDS1	Creatine Deficiency Syndrome, X-Linked
X-Linked Creatine Deficiency	Creatine Deficiency, X-Linked
X-Linked Creatine Transporter Deficiency	Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia
Mental Retardation, X-Linked, With Creatine Transport Deficiency	Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia
Intellectual Disability, X-Linked, With Creatine Transport Deficiency	Slc6a8-Related Creatine Transporter Deficiency
Deficiency, Cerebral Creatine, Syndrome, Type 1

Pseudoachondroplasia

PSACH	Pseudoachondroplastic Dysplasia
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome	Spondyloepiphyseal Dysplasia, Pseudoachondroplastic
Pseudoachondroplastic Spondyloepiphyseal Dysplasia	Spondyloepiphyseal Dysplasia Pseudoachondroplastic

Osteoarthritis

Osteoarthrosis	Degenerative Joint Disease
Hypertrophic Arthritis	Arthropathy
Degenerative Polyarthritis	Degenerative Arthritis
Osteoarthrosis And Allied Disorder	Arthritis, Degenerative
Oa	Osteoarthritis Deformans
Osteoarthrosis Deformans	Kashin-Beck Disease

Cerebral Creatine Deficiency Syndrome 3

Arginine:Glycine Amidinotransferase Deficiency	Agat Deficiency
Gatm Deficiency	Creatine Deficiency Syndrome Due To Agat Deficiency
L-Arginine:Glycine Amidinotransferase Deficiency	CCDS3
L-Arginine:Glycine Aminidotransferase Deficiency	Deficiency, Cerebral Creatine, Syndrome, Type 3

Depersonalization Disorder

Neurotic Derealization	Depersonalization
Depersonalization/Derealization Disorder	Depersonalisation-Derealization Syndrome
Depersonalisation Disorder	Depersonalisation Neurosis
Depersonalisation Syndrome	Feeling Of Unreality
Feels Own Self Is Unreal	Neurotic State With Depersonalisation
Neurotic State With Depersonalization Episode

Cerebral Creatine Deficiency Syndrome 2

Guanidinoacetate Methyltransferase Deficiency	Gamt Deficiency
Creatine Deficiency Syndrome Due To Gamt Deficiency	Deficiency Of Guanidinoacetate Methyltransferase
CCDS2	Guanidinoacetate Methyltransferase Deficiency
Deficiency, Cerebral Creatine, Syndrome, Type 2	Language Development Disorders

Sleep Disorder

Sleep Disorders

Non-Organic Sleep Disorder

Von Economo'S Disease

Encephalitis Lethargica	Von Economo Encephalitis
Von Economo Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06001	HAPLN1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	HAPLN1	VGNC	VGNC:73220
Mus musculus	HAPLN1	MGD	MGI:1337006
Bos taurus	HAPLN1	VGNC	VGNC:29749
Canis familiaris	HAPLN1	VGNC	VGNC:41593
Felis catus	HAPLN1	VGNC	VGNC:102221
Rattus norvegicus	HAPLN1	RGD	RGD:2412
Others	HAPLN1	NCBI

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