2. Gene
  3. ASPN - asporin Gene

ASPN - asporin Gene

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

中文名称：阿斯波林

种属: Homo sapiens

同用名: OS3; PLAP1; PLAP-1; SLRR1C

基因 ID: 54829 | 基因类型: protein coding

关于 ASPN

Cytogenetic location: 9q22.31 Genomic coordinates (GRCh38): 9:92,456,205-92,482,506 (from NCBI)

This gene has 4 transcripts (splice variants), 201 orthologues, 22 paralogues and is associated with 2 phenotypes. Broad expression in gall bladder (RPKM 43.4), endometrium (RPKM 40.7) and 17 other tissues.

功能概要

该基因编码一种软骨细胞外蛋白，该蛋白属于富含亮氨酸的小蛋白多糖家族。编码的蛋白质可能通过抑制软骨中转化生长因子-β 1 诱导的基因表达来调节软骨形成。这种蛋白质还结合胶原蛋白和钙，并可能诱导胶原蛋白矿化。该基因天冬氨酸重复区域的多态性与骨关节炎的易感性以及椎间盘疾病有关。该基因的可变剪接导致多个转录变体。[RefSeq 提供，2014 年 7 月]

This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis, and also with intervertebral disc disease. Alternative splicing of this gene results in multiple transcript variants.[provided by RefSeq, Jul 2014]

ASPN 基因产物(2)

mRNA Protein Name
NM_001193335.3 NP_001180264.1 asporin isoform 2 precursor
NM_017680.6 NP_060150.4 asporin isoform 1 preproprotein
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables calcium ion binding IDA
IDA: 通过直接分析推断
19589127 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in bone mineralization IDA
IDA: 通过直接分析推断
19589127 GOA
involved in negative regulation of transforming growth factor beta receptor signaling pathway IDA
IDA: 通过直接分析推断
17827158 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular matrix IDA
IDA: 通过直接分析推断
17827158 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ASPN 蛋白结构

LRRNT

LRRNT: Leucine rich repeat N-terminal domain (74 - 101)

LRR_8

LRR_8: Leucine rich repeat (105 - 162)

LRR_8

LRR_8: Leucine rich repeat (172 - 220)

LRR_8

LRR_8: Leucine rich repeat (242 - 301)

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

asporin

asporin (LRR class 1)

重组 ASPN 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72093 ASPN Protein, Human (His-SUMO) Q9BXN1 (D33-M380) ≥95%

关联疾病

疾病名称 别名
Intervertebral Disc Disease

Lumbar Disc Disease

Intervertebral Disc Disorder

IDD

Lumbar Disc Herniation

Lumbar Disc Degeneration

Intervertebral Disc Disease, Susceptibility To

Lumbar Disc Herniation, Susceptibility To

Lumbar Disc Disease, Susceptibility To

Intervertebral Disc Degeneration

Discogenic Disease

Discogenic Disorder

Disorder Of Intervertebral Disc

Intervertebral Disk Degeneration

Intervertebral Disk Disease

Ldd

Ldh

Lumbar Disc Degeneration, Susceptibility To

Degeneration Of Lumbar Intervertebral Disc

Intervertebral Disk Displacement
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
Congenital Disorder Of Glycosylation, Type Id

CDG1D

Congenital Disorder Of Glycosylation Id

Congenital Disorder Of Glycosylation 1d

Alg3-Cdg

Cdg Id

Cdgid

Carbohydrate-Deficient Glycoprotein Syndrome, Type Iv, Formerly

Cdgs4, Formerly

Cdgs, Type Iv, Formerly

Cdg Syndrome Type Id

Cdg-Id

Carbohydrate Deficient Glycoprotein Syndrome Type Id

Congenital Disorder Of Glycosylation Type 1d

Congenital Disorder Of Glycosylation Type Id

Mannosyltransferase 6 Deficiency

Carbohydrate-Deficient Glycoprotein Syndrome Type Iv

Cdgs4

Glycosylation, Congenital Disorder Of, Type Id
Torticollis

Contracture Of Neck

Wry Neck

Wry Neck/Torticollis
Acute Tympanitis

Acute Myringitis
Tooth Ankylosis

Ankylosis Of Teeth

Ankylosis Of Tooth
Hypochondrogenesis

Achondrogenesis Type Ii/Hypochondrogenesis
Noonan Syndrome 3

NS3

Noonan Syndrome, Type 3
Bone Deterioration 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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-E70196 Endoproteinase Asp-N Inhibitor / 否
HY-RS01105 ASPN Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus ASPN VGNC VGNC:26222
Felis catus ASPN VGNC VGNC:59979
Mus musculus ASPN MGD MGI:1913945
Canis familiaris ASPN VGNC VGNC:38190
Macaca mulatta ASPN VGNC VGNC:70074
Rattus norvegicus ASPN RGD RGD:1549776
Others ASPN NCBI
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