2. Gene
  3. CILP - cartilage intermediate layer protein Gene

CILP - cartilage intermediate layer protein Gene

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

中文名称：软骨中间层蛋白

种属: Homo sapiens

同用名: CILP-1; HsT18872

基因 ID: 8483 | 基因类型: protein coding

关于 CILP

Cytogenetic location: 15q22.31 Genomic coordinates (GRCh38): 15:65,194,760-65,211,473 (from NCBI)

This gene has 1 transcript (splice variant), 201 orthologues, 1 paralogue and is associated with 1 phenotype. Biased expression in gall bladder (RPKM 29.3), fat (RPKM 19.1) and 12 other tissues.

功能概要

软骨细胞外基质成分的主要改变发生在关节疾病中，例如骨关节病。该基因编码软骨中间层蛋白 (CILP) ，它在早期骨关节软骨中增加。编码的蛋白质被认为编码了两种不同蛋白质的蛋白质前体； N-末端 CILP 和 NTPPHase 的 C-末端同源物，然而，后来的研究发现没有核苷酸焦磷酸酶磷酸二酯酶 (NPP) 活性。该蛋白的全长和 N 末端结构域显示出作为 IGF-1 拮抗剂的作用。该基因的等位基因变体与腰椎间盘疾病有关。[RefSeq 提供，2010 年 9 月]

Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010]

CILP 基因产物(1)

mRNA Protein Name
NM_003613.4 NP_003604.4 cartilage intermediate layer protein 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
NOT enables alkaline phosphatase activity IDA
IDA: 通过直接分析推断
12746903 GOA
NOT enables dinucleotide phosphatase activity IDA
IDA: 通过直接分析推断
12746903 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of SMAD protein signal transduction IGI
IGI: 通过遗传相互作用推断
29167509 GOA
involved in negative regulation of gene expression IDA
IDA: 通过直接分析推断
29167509 GOA
involved in negative regulation of insulin-like growth factor receptor signaling pathway IDA
IDA: 通过直接分析推断
12746903 GOA
involved in negative regulation of transforming growth factor beta receptor signaling pathway IDA
IDA: 通过直接分析推断
29167509 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in collagen-containing extracellular matrix IDA
IDA: 通过直接分析推断
9722583 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
9722584 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

CILP 蛋白结构

Mucin2_WxxW

Mucin2_WxxW: Mucin-2 protein WxxW repeating region (55 - 139)

TSP_1

TSP_1: Thrombospondin type 1 domain (153 - 200)

Ig_2

Ig_2: Immunoglobulin domain (320 - 394)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1184 a.a.
蛋白主名 其他名称

cartilage intermediate layer protein 1

cartilage intermediate layer protein 1 C1

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
Uruguay Faciocardiomusculoskeletal Syndrome

FCMSU

Faciocardiomusculoskeletal Syndrome, Uruguay Type

Fcms

Musculoskeletal Diseases
Familial Calcium Pyrophosphate Deposition

Calcium Pyrophosphate Dihydrate Crystal Deposition Disease

Familial Cc

Familial Cppd

Familial Articular Chondrocalcinosis

Hereditary Cc

Hereditary Articular Chondrocalcinosis

Hereditary Calcium Pyrophosphate Deposition

Calcium Pyrophosphate Deposition Disease

Calcium Pyrophosphate Arthropathy
Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint
Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis
Bone Deterioration Disease
Degenerative Disc Disease

Intervertebral Disc Degeneration

Cervical Disc Degenerative Disorder

Cervical Disc Degenerative Disease

Lumbar Disc Degeneration

Vertebral Disc Disease

Degeneration Of Lumbar Intervertebral Disc

Intervertebral Disc Disorder

Discogenic Disease
Bone Structure 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 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02716 CILP2 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS02715 CILP Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS22120 Cilp Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS28642 Cilp Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris CILP VGNC VGNC:39274
Macaca mulatta CILP VGNC VGNC:71224
Felis catus CILP VGNC VGNC:60903
Mus musculus CILP MGD MGI:2444507
Rattus norvegicus CILP RGD RGD:1305124
Bos taurus CILP VGNC VGNC:55041
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