2. Gene
  3. HAPLN1 - hyaluronan and proteoglycan link protein 1 Gene

HAPLN1 - hyaluronan and proteoglycan link protein 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：透明质酸和蛋白多糖连接蛋白 1

种属: Homo sapiens

同用名: CRT1; CRTL1

基因 ID: 1404 | 基因类型: protein coding

关于 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.

功能概要

预计可启用透明质酸结合活性。预测为赋予抗压性的细胞外基质结构成分。预计参与中枢神经系统发育和骨骼系统发育。与含胶原蛋白的细胞外基质共定位。 [由基因组资源联盟提供，2022 年 4 月]

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 基因产物(1)

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

HAPLN1 蛋白结构

V-set

V-set: Immunoglobulin V-set domain (45 - 144)

Xlink

Xlink: Extracellular link domain (158 - 253)

Xlink

Xlink: Extracellular link domain (259 - 350)

  • 0
  • 100
  • 200
  • 300
  • 354 a.a.
蛋白主名 其他名称

hyaluronan and proteoglycan link protein 1

Cartilage link protein

重组 HAPLN1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76379 HAPLN1 Protein, Human (HEK293, His) P10915 (D16-N354) ≥95%

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06001 HAPLN1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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