1. Gene
  2. CNMD - chondromodulin Gene

CNMD - chondromodulin Gene

中文名称:软骨调节素

种属: Homo sapiens

同用名: CHM1; CHM-I; LECT1; BRICD3; MYETS1

基因 ID: 11061 | 基因类型: protein coding

关于 CNMD

Cytogenetic location: 13q14.3 Genomic coordinates (GRCh38): 13:52,703,264-52,739,820 (from NCBI)

This gene has 3 transcripts (splice variants), 193 orthologues and 1 paralogue. Biased expression in thyroid (RPKM 1.5), salivary gland (RPKM 1.3) and 3 other tissues.

功能概要

该基因编码糖基化跨膜蛋白,该蛋白被切割形成成熟的分泌蛋白。前体蛋白的 N 端与其他表面活性蛋白具有相同的特征,有时也称为软骨表面活性蛋白,但尚未确定其生物活性。前体蛋白的 C 端含有一个 25 kDa 的成熟蛋白,称为白细胞衍生的趋化因子 1 或软骨调节蛋白 1。成熟蛋白促进软骨细胞生长并抑制血管生成。该基因表达于肥大前软骨的无血管区,其表达在软骨细胞肥大和血管侵袭期间降低。成熟蛋白可能通过允许软骨原基血管化并被骨骼替代而在软骨内骨发育中发挥作用。它也可能参与发育过程中组织血管形成的广泛控制。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a glycosylated transmembrane protein that is cleaved to form a mature, secreted protein. The N-terminus of the precursor protein shares characteristics with Other surfactant proteins and is sometimes called chondrosurfactant protein although no biological activity has yet been defined for it. The C-terminus of the precursor protein contains a 25 kDa mature protein called leukocyte cell-derived chemotaxin-1 or chondromodulin-1. The mature protein promotes chondrocyte growth and inhibits angiogenesis. This gene is expressed in the avascular zone of prehypertrophic cartilage and its expression decreases during chondrocyte hypertrophy and vascular invasion. The mature protein likely plays a role in endochondral bone development by permitting cartilaginous anlagen to be vascularized and replaced by bone. It may be involved also in the broad control of tissue vascularization during development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

CNMD 基因产物(2)

mRNA Protein Name
NM_001011705.2 NP_001011705.1 leukocyte cell-derived chemotaxin 1 isoform 2 precursor
NM_007015.3 NP_008946.1 leukocyte cell-derived chemotaxin 1 isoform 1 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 protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of angiogenesis IDA
IDA: 通过直接分析推断
16980969 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

CNMD 蛋白结构

BRICHOS

BRICHOS: BRICHOS domain (105 - 201)

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

leukocyte cell-derived chemotaxin 1

BRICHOS domain containing 3

重组 CNMD 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75906 LECT1 Protein, Human (HEK293, Fc) O75829-1 (E215-V333) ≥95%

关联疾病

疾病名称 别名
Infective Endocarditis

Bacterial Endocarditis

Endocarditis, Infective

Infectious Endocarditis

Endocarditis Infective

Chondrosarcoma

Cartilaginous Cancer

Chondrosarcoma Of Bone

Primary Chondrosarcoma Of The Bone

CHDSA

Heart Valve Disease

Heart Valve Diseases

Valvular Heart Disease

Valvular Heart Diseases

Heart Valve Prolapse

Aortic Valve Disease 2

Aortic Valve Stenosis

Aortic Stenosis

Rheumatic Aortic Stenosis

AOVD2

Bicuspid Aortic Valve

Rheumatic Aortic Valve Stenosis

Valvular Aortic Stenosis

Aortic Valve Disease, Type 2

Aortic Valve Stricture

Aortic Valve Obstruction

Obstructed Aorta Valve

Rheumatic Aortic Obstruction

Rheumatic Aortic Valve Obstruction

Rheumatic Aortic Stricture

Aortic Valve Regurgitation

Aortic Insufficiency With Stenosis

Rheumatic Aortic Valve Stenosis With Insufficiency

Rheumatic Aortic Stenosis With Incompetence

Rheumatic Aortic Stenosis With Regurgitation

Hydrolethalus Syndrome 2

HLS2

Hydrolethalus Syndrome, Type 2

Pleomorphic Adenoma

Mixed Tumor Of The Salivary Gland

Adenoma Pleomorphic

Adenoma, Pleomorphic

Mixed Salivary Gland Tumor

Mixed Tumor, Not Otherwise Specified

Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Dementia, Familial British

Fbd

Presenile Dementia With Spastic Ataxia

Familial British Dementia

Abri Amyloidosis

Cerebral Amyloid Angiopathy, British Type

Itm2b-Related Cerebral Amyloid Angiopathy 1

Familial Dementia, British Type

Cerebral Amyloid Angiopathy, Itm2b-Related 1

CAA-ITM2B1

Cerebral Amyloid Angiopathy British Type

Dementia, Familial, British

Gestational Trophoblastic Neoplasm

Hydatidiform Mole

Molar Pregnancy

Gestational Trophoblastic Neoplasia

Gestational Trophoblastic Tumor

Gtn

Gestational Trophoblastic Disease

Gestational Trophoblastic Neoplasms

Hydatidiform Mole, Recurrent, 1

Hydatidiform Mole Benign

Trophoblastic Disease

Trophoblastic Disease Nos

Trophoblastic Disorder

Vesicular Mole Nos

Vesicular Mole

Hydatidiform Mole Nos

Trophoblastic Neoplasm

Trophoblastic Tumor

Trophoblastic Neoplasms

Scoliosis
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
Bos taurus CNMD VGNC VGNC:27507
Canis familiaris CNMD VGNC VGNC:54287
Rattus norvegicus CNMD RGD RGD:620176
Macaca mulatta CNMD VGNC VGNC:71191
Mus musculus CNMD MGD MGI:1341171
Felis catus CNMD VGNC VGNC:61020
Others CNMD NCBI