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  2. ADAMTSL4 - ADAMTS like 4 Gene

ADAMTSL4 - ADAMTS like 4 Gene

中文名称:ADAMTS 样 4

种属: Homo sapiens

同用名: TSRC1; ECTOL2; ADAMTSL-4

基因 ID: 54507 | 基因类型: protein coding

关于 ADAMTSL4

Cytogenetic location: 1q21.2 Genomic coordinates (GRCh38): 1:150,549,408-150,560,937 (from NCBI)

This gene has 8 transcripts (splice variants), 143 orthologues, 25 paralogues and is associated with 4 phenotypes. Biased expression in placenta (RPKM 57.7), lung (RPKM 14.8) and 11 other tissues.

功能概要

该基因是 ADAMTS (一种具有血小板反应蛋白基序的去整合素和金属蛋白酶) 样基因家族的成员,编码一种具有七个血小板反应蛋白 1 型重复序列的蛋白质。血小板反应蛋白 1 型重复结构域存在于许多具有多种生物学功能的蛋白质中,包括细胞粘附、血管生成和发育中的神经系统的模式化。已经表征了编码不同亚型的替代转录剪接变体。[RefSeq 提供,2014 年 9 月]

This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014]

ADAMTSL4 基因产物(5)

mRNA Protein Name
NM_001288607.2 NP_001275536.1 ADAMTS-like protein 4 isoform 3 precursor
NM_001288608.2 NP_001275537.1 ADAMTS-like protein 4 isoform 4 precursor
NM_001378596.1 NP_001365525.1 ADAMTS-like protein 4 isoform 1 precursor
NM_019032.6 NP_061905.2 ADAMTS-like protein 4 isoform 1 precursor
NM_025008.5 NP_079284.2 ADAMTS-like protein 4 isoform 2 precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables protease binding IPI
IPI: 通过物理相互作用推断
16364318 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of apoptotic process IDA
IDA: 通过直接分析推断
16364318 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

ADAMTSL4 蛋白结构

TSP_1

TSP_1: Thrombospondin type 1 domain (48 - 74)

ADAM_spacer1

ADAM_spacer1: ADAM-TS Spacer 1 (487 - 599)

TSP_1

TSP_1: Thrombospondin type 1 domain (730 - 783)

TSP_1

TSP_1: Thrombospondin type 1 domain (789 - 841)

TSP_1

TSP_1: Thrombospondin type 1 domain (916 - 970)

TSP_1

TSP_1: Thrombospondin type 1 domain (977 - 1025)

PLAC

PLAC: PLAC (protease and lacunin) domain (1032 - 1063)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1074 a.a.
蛋白主名 其他名称

ADAMTS-like protein 4

thrombospondin repeat-containing protein 1

ADAMTSL4 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属间
ADAMTSL4 Q6UY14 Hoxa1 Mus musculus P09022
Pull Down
23088713
种属内
ADAMTSL4 Q6UY14 CTSB Homo sapiens P07858
Imaging
16364318
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Ectopia Lentis Et Pupillae

Ectopia Lentis With Ectopia Of Pupil

ECTOLP

Ectopia Lentis 2, Isolated, Autosomal Recessive

ECTOL2

Ectopia Lentis, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Ectopia Lentis 2

Autosomal Recessive Isolated Ectopia Lentis

Ectopia Lentis, Isolated Autosomal Recessive

Ectopia Lentis, Isolated Autosomal Recessive, Type 2

Isolated Ectopia Lentis

Familial Ectopia Lentis

Ectopia Lentis

Ectopia Lentis Syndrome

Lens Subluxation

Iel

Congenital Ectopia Lentis

Subluxation Of Lens

Ectopia Lentis, Isolated

Ectopia Lentis Isolated

Craniosynostosis With Ectopia Lentis
Retinal Detachment

Retinal Detachments

Rhegmatogenous Retinal Detachment

Ruptured Retina With Detachment

Retinal Hole With Detachment

Bilateral Frontal Polymicrogyria
Astigmatism
Peters-Plus Syndrome

Krause-Kivlin Syndrome

Peters Plus Syndrome

Peters Anomaly

Irido-Corneo-Trabecular Dysgenesis

PTRPLS

Peters Anomaly With Short-Limb Dwarfism

Peters Anomaly-Short Limb Dwarfism Syndrome

Peters Anomaly With Short Limb Dwarfism

Peters Congenital Glaucoma

Krause-Van Schooneveld-Kivlin Syndrome

Peters' Plus Syndrome

Peters'-Plus Syndrome

Anomaly Peters

Weill-Marchesani Syndrome

Gemss Syndrome

Spherophakia-Brachymorphia Syndrome

Marchesani-Weill Syndrome

Wms

Congenital Mesodermal Dystrophy

Mesodermal Dysmorphodystrophy, Congenital

Spherophakia Brachymorphia Syndrome

Mesodermal Dysmorphodystrophy Congenital

Wm Syndrome

Brachydactyly-Spherophakia Syndrome

Brachymorphy With Spherophakia Syndrome

Congenital Mesodermal Dysmorphodystrophy

Marchesani Syndrome

Weill-Marchesani Syndrome, Autosomal Recessive

Weill-Marchesani Syndrome, Autosomal Dominant

Ectopia Lentis 1, Isolated, Autosomal Dominant

ECTOL1

Ectopia Lentis, Familial

Autosomal Dominant Isolated Ectopia Lentis 1

Aqueous Misdirection
Geleophysic Dysplasia

Geleophysic Dwarfism

Gphysd

Morgagni Cataract

Hypermature Cataract

Morgagnian Cataract

Lens Subluxation

Subluxation Of Lens

Stiff Skin Syndrome

SSKS

Stiff Skin

Pseudopapilledema
Acromicric Dysplasia

ACMICD

Acromicric Skeletal Dysplasia

Dysplasia, Acromicric

Lens Disease

Lens Diseases

Winchester Syndrome

WNCHRS

Winchester Disease

Winchester-Grossman Syndrome

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Brachydactyly
Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm

Annuloaortic Ectasia

Familial Thoracic Aortic Aneurysm And Aortic Dissection

Familial Aortic Dissection

Familial Taad

Familial Thoracic Aortic Aneurysm

Congenital Aneurysm Of Ascending Aorta

Familial Aortic Aneurysm

Familial Thoracic Aortic Aneurysm And Dissection

Aortic Aneurysm, Thoracic

AAT1

Faa1

Aortic Dissection, Familial

Aortic Aneurysm, Familial Thoracic

Aneurysm, Thoracic Aortic

Faa

Ftaad

Taa

Taad

Cystic Medial Necrosis Of Aorta

Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

Aortic Aneurysm Thoracic

Familial Aortic Aneurysms

Aneurysm, Aortic, Thoracic, Familial, Type 1

Aneurysm Of Thoracic Aorta

Intrathoracic Aneurysm

Thoracic Aorta Aneurysm

Thoracic Aortic Aneurysm Without Rupture

Thoracic Aneurysm

Thorax Arterial Aneurysm

Thoracic Artery Aneurysm

Thoracic Arterial Aneurysm

Thorax Aneurysm

Thorax Aortic Aneurysm

Dissection Of Thoracic Aorta

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

直系同源

种属 基因名 来源 基因 ID
Felis catus ADAMTSL4 VGNC VGNC:59602
Bos taurus ADAMTSL4 VGNC VGNC:25632
Rattus norvegicus ADAMTSL4 RGD RGD:1561012
Macaca mulatta ADAMTSL4 VGNC VGNC:69480
Canis familiaris ADAMTSL4 VGNC VGNC:37608
Mus musculus ADAMTSL4 MGD MGI:2389008