CLIP1 (CAP-Gly domain containing linker protein 1)

symbol:
CLIP1
locus group:
protein-coding gene
location:
12q24.31
gene_family:
alias symbol:
CYLN1|CLIP170|CLIP|CLIP-170
alias name:
restin
entrez id:
6249
ensembl gene id:
ENSG00000130779
ucsc gene id:
uc001ucg.2
refseq accession:
NM_002956
hgnc_id:
HGNC:10461
approved reserved:
1993-06-10
12q24.31
基因染色体位置图

CLIP1(CAP-Gly domain containing linker protein 1)是一种编码细胞骨架相关蛋白的基因,属于CLIP(cytoplasmic linker protein)基因家族成员。该家族共性是通过CAP-Gly(cytoskeleton-associated protein glycine-rich)结构域与微管结合,参与细胞内物质运输、细胞形态维持及细胞运动等过程。CLIP1蛋白的主要功能是作为“桥梁分子”,连接微管(细胞骨架的主要成分)与细胞器或其他蛋白复合物(如动力蛋白Dynein/Dynactin),调控囊泡运输、有丝分裂和神经元轴突生长等关键生物学活动。其表达产物在神经元中尤为丰富,对突触可塑性和神经发育至关重要。CLIP1的作用位点集中在微管正端(microtubule plus ends),通过动态捕获微管并协调其与其他细胞结构的相互作用。若CLIP1发生功能缺失突变(如截短突变或CAP-Gly结构域突变),会导致微管结合能力下降,引发神经元轴突运输障碍,与神经退行性疾病(如遗传性痉挛性截瘫)相关。某些癌症中CLIP1的染色体易位(如与ROS1基因融合)会驱动肿瘤发生,因其异常激活下游信号通路。当CLIP1过表达时,可能干扰微管动态平衡,导致细胞分裂异常或迁移增强(与肿瘤转移潜在相关);而表达降低则可能损害神经元内运输功能,引发神经退行性表型。目前研究还发现CLIP1与阿尔茨海默病中Tau蛋白病理有关,可能通过影响微管稳定性参与疾病进程。该基因的调控机制涉及转录后修饰(如磷酸化)和蛋白相互作用网络(如与EB1蛋白协作),其功能复杂性使其成为细胞动力学和疾病治疗的研究靶点。

The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

该基因链接吞囊泡微管编码的蛋白质。该基因在霍奇金病的里德 - 斯特恩伯格细胞中高表达。已发现该基因编码不同亚型的几个抄本变形。 [由RefSeq的,2011年10月提供]

CLIP1基因的碱基序列:[NCBI]
Loading Gene Browser...
CLIP1基因的碱基突变:           仅显示部分snp
rs3825096       rs6488958       rs7972697       rs7972719       rs7972832       rs10846792       rs11057917       rs11057934       rs11057944       rs12818669       rs12820494       rs35947842       rs57014485       rs57436531       rs59638725       rs59941683       rs61954441      

CLIP1基因在不同组织中的表达:    [UniProt]

基因在不同组织中的表达图
正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
GGACAAAGCAGAAGACCAG
59
GCTACTAGCCTTTATTTCAGCT
58
GATCTTGAGGTGGCTACAG
57
TACTTCCTGTACTCTCAATGC
57
GTGATCTTGAGACGCAGAC
58
GGAGTTTGTCAGCTTTGGT
58
GTGATCTTGAGACGCAGAC
58
GGAGTTTGTCAGCTTTGGT
58
ATCTCCAACCTTTCAGAGGC
60
GTGCCACCAACCAATACTC
59
GTATGCTAAAGCCAAGTGGG
59
TCTACTGGAGCTACAACAGC
59
TCCTGAGAATACGCAGACC
59
GGAGTTTGTCAGCTTTGGT
58
CAGGAGAGTCAGATTGATTTCC
59
TCTCCACCTTCATCTTGAGG
59
TCCTGAGAATACGCAGACC
59
GGAGTTTGTCAGCTTTGGT
58
ACTTAGACAGCAGCTTGAG
57
GTAATGCTACTAGCCTTGCT
58
      尚未收录相关数据

CLIP1基因(以及对应的蛋白质)的细胞分布位置:

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

CLIP1基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0005737
F5H0N7 (UniProtKB)
IDA
GO:1990752
F5H0N7 (UniProtKB)
IDA
GO:0005737
J3KP58 (UniProtKB)
IDA
GO:1990752
J3KP58 (UniProtKB)
IDA
GO:0000776
P30622 (UniProtKB)
TAS
GO:0001578
P30622 (UniProtKB)
IMP
GO:0001726
P30622 (UniProtKB)
IEA
GO:0005515
P30622 (UniProtKB)
IPI
GO:0005515
P30622 (UniProtKB)
IPI
GO:0005515
P30622 (UniProtKB)
IPI
GO:0005515
P30622 (UniProtKB)
IPI
GO:0005515
P30622 (UniProtKB)
IPI
GO:0005515
P30622 (UniProtKB)
IPI
GO:0005737
P30622 (UniProtKB)
IDA
GO:0005768
P30622 (UniProtKB)
TAS
GO:0005813
P30622 (UniProtKB)
IDA
GO:0005829
P30622 (UniProtKB)
TAS
GO:0005829
P30622 (UniProtKB)
TAS
GO:0005829
P30622 (UniProtKB)
TAS
GO:0005829
P30622 (UniProtKB)
TAS
GO:0005829
P30622 (UniProtKB)
TAS
GO:0005829
P30622 (UniProtKB)
TAS
GO:0005829
P30622 (UniProtKB)
TAS
GO:0005829
P30622 (UniProtKB)
TAS
GO:0005829
P30622 (UniProtKB)
TAS
GO:0005829
P30622 (UniProtKB)
TAS
GO:0005829
P30622 (UniProtKB)
TAS
GO:0005874
P30622 (UniProtKB)
ISS
GO:0005874
P30622 (UniProtKB)
IMP
GO:0005881
P30622 (UniProtKB)
IEA
GO:0005882
P30622 (UniProtKB)
TAS
GO:0007062
P30622 (UniProtKB)
TAS
GO:0007067
P30622 (UniProtKB)
TAS
GO:0008017
P30622 (UniProtKB)
IDA
GO:0008270
P30622 (UniProtKB)
IDA
GO:0015630
P30622 (UniProtKB)
IMP
GO:0015631
P30622 (UniProtKB)
IDA
GO:0030659
P30622 (UniProtKB)
IEA
GO:0031116
P30622 (UniProtKB)
IMP
GO:0031116
P30622 (UniProtKB)
IMP
GO:0042803
P30622 (UniProtKB)
TAS
GO:0044861
P30622 (UniProtKB)
IEA
GO:0046872
P30622 (UniProtKB)
NAS
GO:0051010
P30622 (UniProtKB)
IDA
GO:1990752
P30622 (UniProtKB)
IDA
GO:0035371
P30622 (UniProtKB)
IDA
GO:0044354
P30622 (UniProtKB)
IDA

可能调控 CLIP1基因的相关microRNA:     

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称
疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
ovarian neoplasm 0.00272435 1 0 LHGDN
Malignant neoplasm of breast 0.000542884 2 0 BeFree
Primary Effusion Lymphoma 0.000542884 2 0 BeFree
Ki-1+ Anaplastic Large Cell Lymphoma 0.000542884 2 0 BeFree
Diabetes Mellitus, Insulin-Dependent 0.000542884 2 0 BeFree
Hepatitis C 0.000542884 2 0 BeFree
Breast Carcinoma 0.000542884 2 0 BeFree
Diabetes Mellitus, Non-Insulin-Dependent 0.000271442 1 0 BeFree
Secondary malignant neoplasm of lung 0.000271442 1 0 BeFree
Tumor Angiogenesis 0.000271442 1 0 BeFree

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