HCFC1 (host cell factor C1)

基因基本信息

基因基本信息

symbol:
HCFC1
locus group:
protein-coding gene
location:
Xq28
gene_family:
X-linked mental retardation|Protein phosphatase 1 regulatory subunits
alias symbol:
HCF-1|HCF1|CFF|VCAF|MGC70925|PPP1R89
alias name:
VP16-accessory protein|protein pho…
entrez id:
3054
ensembl gene id:
ENSG00000172534
ucsc gene id:
uc004fjp.4
refseq accession:
NM_005334
hgnc_id:
HGNC:4839
approved reserved:
1994-10-14

基因染色体位置

基因染色体位置

Xq28
基因染色体位置图

基因简述

基因简述

HCFC1（宿主细胞因子C1）是一个重要的转录调控因子，属于宿主细胞因子（HCF）基因家族。该基因家族成员通常参与调控细胞周期、转录激活和表观遗传修饰等过程。HCFC1编码的蛋白质含有多个Kelch重复结构域，这些结构域介导蛋白质相互作用，使其能够作为支架蛋白参与多种转录复合物的组装。HCFC1在胚胎发育、细胞增殖和分化中发挥关键作用，尤其在神经系统发育中至关重要。HCFC1通过与转录因子（如E2F家族成员）和组蛋白修饰酶（如SETD1A）相互作用，调控下游基因的表达。HCFC1的突变可能导致严重的发育障碍，如X连锁智力障碍综合征（XLID），患者表现为智力低下、面部畸形和神经系统异常。某些突变会破坏HCFC1与结合伙伴的相互作用，影响转录调控功能。HCFC1的过表达可能促进细胞增殖，甚至与某些癌症的发生相关，而表达降低则可能导致发育缺陷或细胞周期停滞。此外，HCFC1与c-MYC等癌基因存在功能关联，可能通过调控细胞周期相关基因影响肿瘤发生。HCFC1还参与DNA损伤修复和端粒维持，其异常表达可能影响基因组稳定性。该基因在多种组织中广泛表达，但在大脑中表达水平较高，突显其神经发育中的重要性。HCFC1的功能研究为理解智力障碍和癌症的分子机制提供了重要线索。

This gene is a member of the host cell factor family and encodes a protein with five Kelch repeats, a fibronectin-like motif, and six HCF repeats, each of which contains a highly specific cleavage signal. This nuclear coactivator is proteolytically cleaved at one of the six possible sites, resulting in the creation of an N-terminal chain and the corresponding C-terminal chain. The final form of this protein consists of noncovalently bound N- and C-terminal chains. The protein is involved in control of the cell cycle and transcriptional regulation during herpes simplex virus infection. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

该基因是在宿主细胞因子家族的成员，并具有五个KELCH重复，纤连蛋白样基序编码蛋白质，和六HCF重复，其中每个都包含一个高度特异性切割信号。此核共活化剂是蛋白水解切割在六个可能的网站之一，导致产生的N-末端链和相应的C-末端链。这种蛋白质的最后形式由非共价结合的N-和C-末端链。该蛋白质是参与疱疹病毒感染过程中的细胞周期和转录调控的控制。可变剪接变体，其编码不同蛋白同种型已被描述;然而，并非所有的变体已被充分表征。 [由RefSeq的，2008年7月提供]

OMIM数据库中对CCND1基因的介绍     Wikipedia数据库中对CCND1基因的介绍

基因序列

基因序列

CCND1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

HCFC1基因的碱基突变：           仅显示部分snp
rs782819738       rs782820533       rs782818166       rs782818466       rs782817578       rs782817597       rs782816476       rs782817100       rs782814753       rs782815241       rs782814235       rs782811477       rs782814130       rs782811433       rs782806233       rs782810696       rs782805582      

基因表达

基因表达

HCFC1基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
GGAGTCATTAAGGGCACCA
59
CCAAATCATCGTCTGATGGG
59
ATGGATGACGTCAAAGTGG
58
CCATGGTATCCAGGTTGAG
57
TGAACATCACCAGCTCCAG
60
CATTGATGAGATCTTCGGCAC
60
CGGAAATAAATACCATGGCCT
59
CACTCCAAATGTACAGGCG
59
GGAGTCATTAAGGGCACCA
59
CCAAATCATCGTCTGATGGG
59
AACAAATGCTACCTGTTTGGG
60
TAAGTCATTCAGGTACCTTGGA
59
GGAGTCATTAAGGGCACCA
59
CAAATCATCGTCTGATGGGAC
59
GGAGTCATTAAGGGCACCA
59
CAAATCATCGTCTGATGGGAC
59
CGGAAATAAATACCATGGCCTG
60
CACTCCAAATGTACAGGCG
59
TGAACATCACCAGCTCCAG
60
ATGAGATCTTCGGCACAGAG
60

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
E2F4
HCFC1
Activation
14532282
HCFC1
E2F1
Activation
17612494; 19763085
HCFC1
E2F4
Repression
17612494
HCFC1
MMACHC
Unknown
24011988
YY1
HCFC1
Unknown
23000143

基因本体信息

HCFC1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

HCFC1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005654
A6NEM2 (UniProtKB)
IDA
GO:0005739
A6NEM2 (UniProtKB)
IDA
GO:0000122
P51610 (UniProtKB)
ISS
GO:0000123
P51610 (UniProtKB)
IDA
GO:0001205
P51610 (UniProtKB)
IEA
GO:0003682
P51610 (UniProtKB)
IDA
GO:0003700
P51610 (UniProtKB)
NAS
GO:0003713
P51610 (UniProtKB)
IMP
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005515
P51610 (UniProtKB)
IPI
GO:0005634
P51610 (UniProtKB)
IDA
GO:0005634
P51610 (UniProtKB)
IDA
GO:0005634
P51610 (UniProtKB)
IDA
GO:0005634
P51610 (UniProtKB)
IDA
GO:0005634
P51610 (UniProtKB)
IDA
GO:0005654
P51610 (UniProtKB)
IDA
GO:0005654
P51610 (UniProtKB)
TAS
GO:0005654
P51610 (UniProtKB)
TAS
GO:0005654
P51610 (UniProtKB)
TAS
GO:0005654
P51610 (UniProtKB)
TAS
GO:0005654
P51610 (UniProtKB)
TAS
GO:0005737
P51610 (UniProtKB)
IDA
GO:0005737
P51610 (UniProtKB)
IDA
GO:0005739
P51610 (UniProtKB)
IDA
GO:0006355
P51610 (UniProtKB)
IDA
GO:0006366
P51610 (UniProtKB)
IEA
GO:0007005
P51610 (UniProtKB)
TAS
GO:0007049
P51610 (UniProtKB)
IEA
GO:0010628
P51610 (UniProtKB)
IDA
GO:0016020
P51610 (UniProtKB)
IDA
GO:0019046
P51610 (UniProtKB)
NAS
GO:0030424
P51610 (UniProtKB)
IEA
GO:0030425
P51610 (UniProtKB)
IEA
GO:0042802
P51610 (UniProtKB)
IPI
GO:0043025
P51610 (UniProtKB)
IDA
GO:0043254
P51610 (UniProtKB)
IDA
GO:0043981
P51610 (UniProtKB)
IDA
GO:0043982
P51610 (UniProtKB)
IDA
GO:0043984
P51610 (UniProtKB)
IDA
GO:0045787
P51610 (UniProtKB)
TAS
GO:0045944
P51610 (UniProtKB)
IEA
GO:0048188
P51610 (UniProtKB)
IDA
GO:0048188
P51610 (UniProtKB)
IDA
GO:0050821
P51610 (UniProtKB)
IDA
GO:0070688
P51610 (UniProtKB)
IDA
GO:0071339
P51610 (UniProtKB)
IDA
GO:0071407
P51610 (UniProtKB)
IEA
GO:0005671
P51610 (UniProtKB)
IDA
GO:0070461
P51610 (UniProtKB)
IDA
GO:0043995
P51610 (UniProtKB)
IDA
GO:0043996
P51610 (UniProtKB)
IDA
GO:0046972
P51610 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 HCFC1基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

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

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
MENTAL RETARDATION, X-LINKED 3 0.36 1 5 CLINVAR_ORPHANET_UNIPROT
Liver neoplasms 0.120271442 1 0 BeFree_CTD_human
Herpes Simplex Infections 0.002995792 2 0 BeFree_LHGDN
leukemia 0.00272435 1 0 LHGDN
Meniere Disease 0.002367032 1 0 GAD
Mental Retardation 0.000542884 2 0 BeFree
Congenital malformation syndrome 0.000542884 2 0 BeFree
Intellectual Disability 0.000542884 2 0 BeFree
Malignant neoplasm of liver 0.000271442 1 0 BeFree
nervous system disorder 0.000271442 1 0 BeFree

基因相关服务

基因相关服务

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