HIVEP1 (HIVEP zinc finger 1)

基因基本信息

基因基本信息

symbol:
HIVEP1
locus group:
protein-coding gene
location:
6p24.1
gene_family:
Zinc fingers, C2H2-type
alias symbol:
CIRIP|MBP-1|CRYBP1|PRDII-BF1|ZAS1|Schnurri-1|ZNF40A
alias name:
None
entrez id:
3096
ensembl gene id:
ENSG00000095951
ucsc gene id:
uc003nac.4
refseq accession:
NM_002114
hgnc_id:
HGNC:4920
approved reserved:
1990-10-04

基因染色体位置

基因染色体位置

6p24.1

基因简述

基因简述

HIVEP1（人类免疫缺陷病毒增强子结合蛋白1）是一种转录调控因子，属于HIVEP/ZAS基因家族（也称为ZAS或KRC家族），该家族成员均含有锌指结构域，能够结合特定DNA序列并调控基因表达。HIVEP1在免疫系统、神经系统和发育过程中发挥重要作用，其表达产物通过结合DNA增强子或启动子区域（如HIV病毒LTR区域）来调节下游基因的转录活性，影响细胞增殖、分化和炎症反应。该基因的突变可能导致功能异常，与多种疾病相关，例如HIVEP1突变或表达异常与免疫缺陷、自身免疫性疾病（如系统性红斑狼疮）及某些癌症（如淋巴瘤）的发生有关。此外，HIVEP1在神经发育中起关键作用，其突变可能与智力障碍或精神分裂症等神经精神疾病相关。若HIVEP1过表达，可能过度激活免疫反应或促炎信号通路，导致慢性炎症或自身免疫紊乱；而表达降低则可能削弱免疫监视功能，增加感染或肿瘤风险。HIVEP家族共性包括：均含有多个锌指结构域，能够结合相似DNA序列（如MHC II类基因的启动子），并参与免疫调节、细胞应激响应和发育过程。家族成员（如HIVEP2和HIVEP3）功能部分冗余，但各自在特定组织或病理条件下发挥独特作用。研究HIVEP1有助于理解免疫调控机制及开发相关疾病的靶向治疗策略。

中文English

该基因编码属于ZAS家族的转录因子，它的成员是包含一个ZAS域大的蛋白质 - 由一对C2H2型锌指与一种富酸性区和丝氨酸/模块化蛋白质结构苏氨酸丰富的序列。这些蛋白质特异性结合的DNA序列基序，GGGACTTTCC，在几个病毒启动子，包括人类免疫缺陷病毒（HIV）的增强子元件中发现，以及在一些细胞启动子的增强子元件中发现的相关的序列。该蛋白质结合该序列基序，这表明在两个病毒和细胞基因的转录调控中的作用。 [由RefSeq的，2011年10月提供]

OMIM数据库中对HIVEP1基因的介绍     Wikipedia数据库中对HIVEP1基因的介绍

基因序列

基因序列

HIVEP1基因的碱基序列：[NCBI]
Loading Gene Browser...

编码蛋白质

编码蛋白质

蛋白质序列
1MPRTKQIHPR NLRDKIEEAQ KELNGAEVSK KEILQAGVKG
41TSESLKGVKR KKIVAENHLK KIPKSPLRNP LQAKHKQNTE
81 ESSFAVLHS ASESHKKQNY IPVKNGKQFT KQNGETPGII
121AEASKSEESV SPKKPLFLQQ PSELRRWRSE GADPAKFSDL
161D EQCDSSSL SSKTRTDNSE CISSHCGTTS PSYTNTAFDV
201LLKAMEPELS TLSQKGSPCA IKTEKLRPNK TARSPPKLKN
241SS MDAPNQT SQELVAESQS SCTSYTVHMS AAQKNEQGAM
281QSASHLYHQH EHFVPKSNQH NQQLPGCSGF TGSLTNLQNQ
321ENA KLEQVY NIAVTSSVGL TSPSSRSQVT PQNQQMDSAS
361PLSISPANST QSPPMPIYNS THVASVVNQS VEQMCNLLLK
401DQKP KKQGK YICEYCNRAC AKPSVLLKHI RSHTGERPYP
441CVTCGFSFKT KSNLYKHKKS HAHTIKLGLV LQPDAGGLFL
481SHESP KALS IHSDVEDSGE SEEEGATDER QHDLGAMELQ
521PVHIIKRMSN AETLLKSSFT PSSPENVIGD FLLQDRSAES
561QAVTEL PKV VVHHVTVSPL RTDSPKAMDP KPELSSAQKQ
601KDLQVTNVQP LSANMSQGGV SRLETNENSH QKGDMNPLEG
641KQDSHVG TV HAQLQRQQAT DYSQEQQGKL LSPRSLGSTD
681SGYFSRSESA DQTVSPPTPF ARRLPSTEQD SGRSNGPSAA
721LVTTSTPS A LPTGEKALLL PGQMRPPLAT KTLEERISKL
761ISDNEALVDD KQLDSVKPRR TSLSRRGSID SPKSYIFKDS
801FQFDLKPVG RRTSSSSDIP KSPFTPTEKS KQVFLLSVPS
841LDCLPITRSN SMPTTGYSAV PANIIPPPHP LRGSQSFDDK
881IGTFYDDVFV SGPNAPVPQ SGHPRTLVRQ AAIEDSSANE
921SHVLGTGQSL DESHQGCHAA GEAMSVRSKA LAQGPHIEKK
961KSHQGRGTMF E CETCRNRY RKLENFENHK KFYCSELHGP
1001KTKVAMREPE HSPVPGGLQP QILHYRVAGS SGIWEQTPQI
1041RKRRKMKSVG DD EELQQNE SGTSPKSSEG LQFQNALGCN
1081PSLPKHNVTI RSDQQHKNIQ LQNSHIHLVA RGPEQTMDPK
1121LSTIMEQQIS SAA QDKIEL QRHGTGISVI QHTNSLSRPN
1161SFDKPEPFER ASPVSFQELN RTGKSGSLKV IGISQEESHP
1201SRDGSHPHQL ALSD ALRGE LQESSRKSPS ERHVLGQPSR
1241LVRQHNIQVP EILVTEEPDR DLEAQCHDQE KSEKFSWPQR
1281SETLSKLPTE KLPPK KKRL RLAEIEHSST ESSFDSTLSR
1321SLSRESSLSH TSSFSASLDI EDVSKTEASP KIDFLNKAEF
1361LMIPAGLNTL NVPGCH REM RRTASEQINC TQTSMEVSDL
1401RSKSFDCGSI TPPQTTP
结构预测来自 AlphaFold DB（UniProt: P15822），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

HIVEP1基因的碱基突变：           仅显示部分snp
rs12014       rs219938       rs219939       rs219940       rs219941       rs219942       rs219943       rs219944       rs219945       rs219946       rs219947       rs219948       rs219949       rs219950       rs220018       rs220019       rs220020      

基因表达

基因表达

HIVEP1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
CCCACTTCCAACCTAGGAG
59
TTAATCCATGTGCCGAACTG
59
GGAGGGCAATCAAATGAAGAG
59
GCTAGGTTTCTTACAACGTATTCC
60
CTGTGGACTACCCTGAGTC
59
ACAGATGATGGGCTCTGTG
60
CGGAATCCCTTAAAGGAAATCTG
60
ACTGAGACGCCTAAATCCAC
60
TCATCCCAGAAATCTAAGAGAC
57
AGTTCCTTTAACACCAGCC
58
CTGTGGACTACCCTGAGTC
59
ACAGATGATGGGCTCTGTG
60
TCATCCCAGAAATCTAAGAGAC
57
AGTTCCTTTAACACCAGCC
58
AAAGAAATCTTACAGGCTGGTG
59
TTGCGTTTCACACCTTTAAGG
60
GAAATCTAAGAGGGTCTTGCTC
59
GGACAAGCCTTAGCTTGTC
59
CTGTGGACTACCCTGAGTC
59
ACAGATGATGGGCTCTGTG
60

转录因子

转录因子

      尚未收录相关数据

基因本体信息

HIVEP1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

HIVEP1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003676
A0A0D9SFF3 (UniProtKB)
IEA
GO:0003676
C9JLG1 (UniProtKB)
IEA
GO:0003676
F5H212 (UniProtKB)
IEA
GO:0046872
F5H212 (UniProtKB)
IEA
GO:0000122
P15822 (UniProtKB)
IEA
GO:0000980
P15822 (UniProtKB)
IEA
GO:0001206
P15822 (UniProtKB)
IBA
GO:0003677
P15822 (UniProtKB)
TAS
GO:0005515
P15822 (UniProtKB)
IPI
GO:0005515
P15822 (UniProtKB)
IPI
GO:0005515
P15822 (UniProtKB)
IPI
GO:0005515
P15822 (UniProtKB)
IPI
GO:0005515
P15822 (UniProtKB)
IPI
GO:0005634
P15822 (UniProtKB)
IDA
GO:0005634
P15822 (UniProtKB)
IDA
GO:0005739
P15822 (UniProtKB)
IDA
GO:0006366
P15822 (UniProtKB)
IBA
GO:0007165
P15822 (UniProtKB)
IBA
GO:0007275
P15822 (UniProtKB)
IBA
GO:0043565
P15822 (UniProtKB)
IBA
GO:0044212
P15822 (UniProtKB)
IBA
GO:0046872
P15822 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 HIVEP1基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

String
BioGrid
IntAct
mentha
MINT
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关联基因 作用方式 资源库来源/分值

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
Venous Thrombosis 0.002367032 1 0 GAD
Alcoholic Intoxication, Chronic 0.002367032 1 1 GAD
Benzodiazepines causing adverse effects in therapeutic use 0.002367032 1 1 GAD
Breast Carcinoma 0.001085767 4 0 BeFree
Malignant neoplasm of breast 0.001085767 4 0 BeFree
Muscular Dystrophy 0.000271442 1 0 BeFree
Prostatic Neoplasms 0.000271442 1 0 BeFree

基因相关文献

基因相关文献

Exhaustive exercise modifies different gene expression profiles and pathways in LPS-stimulated and un-stimulated whole blood cultures.
Abbasi Asghar, Hauth Melanie, Walter Michael, Hudemann Jens, Wank Veit, Niess Andreas M, Northoff Hinnak Brain Behav Immun IF: 7.5 2015-02-19
Redefining the transcriptional regulatory dynamics of classically and alternatively activated macrophages by deepCAGE transcriptomics.
Roy Sugata, Schmeier Sebastian, Arner Erik, Alam Tanvir, Parihar Suraj P, Ozturk Mumin, Tamgue Ousman, Kawaji Hideya, de Hoon Michiel J L, Itoh Masayoshi, Lassmann Timo, Carninci Piero, Hayashizaki Yoshihide, Forrest Alistair R R, Bajic Vladimir B, Guler Reto, , Brombacher Frank, Suzuki Harukazu Nucleic Acids Res IF: 15.0 2015-11-24
High-throughput RNA sequencing-based virome analysis of 50 lymphoma cell lines from the Cancer Cell Line Encyclopedia project.
Cao Subing, Strong Michael J, Wang Xia, Moss Walter N, Concha Monica, Lin Zhen, O'Grady Tina, Baddoo Melody, Fewell Claire, Renne Rolf, Flemington Erik K J Virol IF: 4.1 2015-03-16
Human immunodeficiency virus type 1 enhancer-binding protein 3 is essential for the expression of asparagine-linked glycosylation 2 in the regulation of osteoblast and chondrocyte differentiation.
Imamura Katsuyuki, Maeda Shingo, Kawamura Ichiro, Matsuyama Kanehiro, Shinohara Naohiro, Yahiro Yuhei, Nagano Satoshi, Setoguchi Takao, Yokouchi Masahiro, Ishidou Yasuhiro, Komiya Setsuro J Biol Chem IF: 4.1 2014-05-30
Genetics of venous thrombosis: insights from a new genome wide association study.
Germain Marine, Saut Noémie, Greliche Nicolas, Dina Christian, Lambert Jean-Charles, Perret Claire, Cohen William, Oudot-Mellakh Tiphaine, Antoni Guillemette, Alessi Marie-Christine, Zelenika Diana, Cambien François, Tiret Laurence, Bertrand Marion, Dupuy Anne-Marie, Letenneur Luc, Lathrop Mark, Emmerich Joseph, Amouyel Philippe, Trégouët David-Alexandre, Morange Pierre-Emmanuel PLoS One IF: 2.6 2012-01-26
A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1.
Morange Pierre-Emmanuel, Bezemer Irene, Saut Noémie, Bare Lance, Burgos Gwenaelle, Brocheton Jessy, Durand Hervé, Biron-Andreani Christine, Schved Jean-Francois, Pernod Gilles, Galan Pilar, Drouet Ludovic, Zelenika Diana, Germain Marine, Nicaud Viviane, Heath Simon, Ninio Ewa, Delluc Aurélien, Münzel Thomas, Zeller Tanja, Brand-Herrmann Stefan-Martin, Alessi Marie-Christine, Tiret Laurence, Lathrop Mark, Cambien François, Blankenberg Stefan, Emmerich Joseph, Trégouët David-Alexandre, Rosendaal Frits R Am J Hum Genet IF: 7.7 2010-04-22
Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1.
Yu Bin, Mitchell Grant A, Richter Andrea Exp Cell Res IF: 3.5 2009-11-06
[North American Indian childhood cirrhosis (NAIC)].
Richter Andrea, Mitchell Grant A, Rasquin Andrée Med Sci (Paris) IF: 0.5 2008-01-23
Schnurri transcription factors from Drosophila and vertebrates can mediate Bmp signaling through a phylogenetically conserved mechanism.
Yao Li-Chin, Blitz Ira L, Peiffer Daniel A, Phin Sopheap, Wang Ying, Ogata Souichi, Cho Ken W Y, Arora Kavita, Warrior Rahul Development IF: 4.0 2007-01-12
Isolation and characterization of the Xenopus HIVEP gene family.
Dürr Ulrike, Henningfeld Kristine A, Hollemann Thomas, Knöchel Walter, Pieler Tomas Eur J Biochem 2004-04-27

基因相关服务

基因相关服务

基因相关评论

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