UHMK1 (U2AF homology motif kinase 1)

基因基本信息

基因基本信息

symbol:
UHMK1
locus group:
protein-coding gene
location:
1q23.3
gene_family:
RNA binding motif containing
alias symbol:
KIS|Kist
alias name:
None
entrez id:
127933
ensembl gene id:
ENSG00000152332
ucsc gene id:
uc001gcc.3
refseq accession:
NM_175866
hgnc_id:
HGNC:19683
approved reserved:
2004-12-09

基因染色体位置

基因染色体位置

1q23.3

基因简述

基因简述

UHMK1（也称为KIS或U2AF homology motif kinase 1）是一种丝氨酸/苏氨酸蛋白激酶，属于CAMK（钙/钙调素依赖性蛋白激酶）家族。该基因编码的蛋白包含一个独特的U2AF同源基序（UHM），使其能够与其他含有UHM配体基序（ULM）的蛋白质相互作用，从而参与RNA剪接调控。UHMK1主要在细胞核中表达，并在RNA代谢、转录后调控和细胞周期进程中发挥重要作用。该激酶通过磷酸化靶蛋白（如剪接因子SF3B1和U2AF65）来调节前体mRNA的剪接过程，影响基因表达。UHMK1的突变或异常表达可能导致剪接错误，进而引发疾病。研究发现，UHMK1在某些癌症（如白血病和乳腺癌）中过表达，可能通过促进异常剪接事件或激活致癌信号通路来驱动肿瘤发生。相反，UHMK1表达降低可能影响正常RNA加工，导致细胞功能紊乱。UHMK1属于CAMK家族，该家族成员通常依赖钙/钙调素激活，并参与多种细胞过程，如转录调控、代谢和细胞周期控制。CAMK激酶的共性包括具有保守的激酶结构域和通过磷酸化底物传递信号的能力。UHMK1的独特之处在于其UHM结构域，使其在RNA剪接中具有特异性作用。研究表明，抑制UHMK1激酶活性可能成为癌症治疗的潜在策略，但需进一步研究其在不同组织中的具体功能及调控机制。

中文English

的基因编码的细胞周期蛋白依赖性激酶抑制剂1B（p27Kip1的），这会导致核出口和退化的磷酸化通过G1期促进细胞周期进程的丝氨酸/苏氨酸蛋白激酶。所编码的蛋白质也被认为在成人神经系统的功能和基因已与精神分裂症有关。选择性剪接结果在多个抄本变形。 [由RefSeq的，2010年5月提供]

OMIM数据库中对UHMK1基因的介绍     Wikipedia数据库中对UHMK1基因的介绍

基因序列

基因序列

UHMK1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
1MAGSGCAWGA EPPRFLEAFG RLWQVQSRLG SGSSASVYRV
41RCCGNPGSPP GALKQFLPPG TTGAAASAAE YGFRKERAAL
81 EQLQGHRNI VTLYGVFTIH FSPNVPSRCL LLELLDVSVS
121ELLLYSSHQG CSMWMIQHCA RDVLEALAFL HHEGYVHADL
161K PRNILWSA ENECFKLIDF GLSFKEGNQD VKYIQTDGYR
201APEAELQNCL AQAGLQSDTE CTSAVDLWSL GIILLEMFSG
241MK LKHTVRS QEWKANSSAI IDHIFASKAV VNAAIPAYHL
281RDLIKSMLHD DPSRRIPAEM ALCSPFFSIP FAPHIEDLVM
321LPT PVLRLL NVLDDDYLEN EEEYEDVVED VKEECQKYGP
361VVSLLVPKEN PGRGQVFVEY ANAGDSKAAQ KLLTGRMFDG
401KFVV ATFYP LSAYKRGYLY QTLL
结构预测来自 AlphaFold DB（UniProt: Q8TAS1），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

UHMK1基因的碱基突变：           仅显示部分snp
rs394045       rs417956       rs1827635       rs6656197       rs6667797       rs10494370       rs10800577       rs10919548       rs10919549       rs10919550       rs11580023       rs17430397       rs55807440       rs57561731       rs57964771       rs58024941       rs58119468      

基因表达

基因表达

UHMK1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
GATCTGGTCATGCTTCCCA
60
CTCAACAAAGACCTTCATATTCCTC
60
GACCTTAACCGGAGAGTGAC
60
GAGTTCAAGCAACAGACAGC
60
CAGAGGACAAGTCTTTGTTGAG
59
CATCAAACATCCTTCCAGTCAG
59
CAGAGGACAAGTCTTTGTTGAG
59
CATCAAACATCCTTCCAGTCAG
59
CAGGAATGGAAGGCAAACAG
59
GTGATAGGCTGGAATTGCG
59
AATGGAAGGCAAACAGTTCTG
59
GGTGATAGGCTGGAATTGC
58
GAAACATCGTGACTTTGTATGG
58
AGGAGTTCAAGCAACAGAC
58
GAAACATCGTGACTTTGTATGG
58
AGGAGTTCAAGCAACAGAC
58
ACCTTAACCGGAGAGTGAC
59
GGAGTTCAAGCAACAGACAG
59
ATCTGGTCATGCTTCCCAC
60
CTCAACAAAGACCTTCATATTCCTC
60

转录因子

转录因子

      尚未收录相关数据

基因本体信息

UHMK1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

UHMK1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003676
A0A0A6YYC2 (UniProtKB)
IEA
GO:0004672
A0A0A6YYC2 (UniProtKB)
IEA
GO:0005524
A0A0A6YYC2 (UniProtKB)
IEA
GO:0006468
A0A0A6YYC2 (UniProtKB)
IEA
GO:0000184
Q8TAS1 (UniProtKB)
IBA
GO:0000381
Q8TAS1 (UniProtKB)
IBA
GO:0003729
Q8TAS1 (UniProtKB)
IBA
GO:0004674
Q8TAS1 (UniProtKB)
IDA
GO:0005515
Q8TAS1 (UniProtKB)
IPI
GO:0005515
Q8TAS1 (UniProtKB)
IPI
GO:0005524
Q8TAS1 (UniProtKB)
IC
GO:0005634
Q8TAS1 (UniProtKB)
IDA
GO:0007050
Q8TAS1 (UniProtKB)
IMP
GO:0016740
Q8TAS1 (UniProtKB)
IC
GO:0018105
Q8TAS1 (UniProtKB)
ISS
GO:0018105
Q8TAS1 (UniProtKB)
IDA
GO:0030424
Q8TAS1 (UniProtKB)
ISS
GO:0031175
Q8TAS1 (UniProtKB)
ISS
GO:0032839
Q8TAS1 (UniProtKB)
ISS
GO:0035145
Q8TAS1 (UniProtKB)
IBA
GO:0035770
Q8TAS1 (UniProtKB)
IBA
GO:0043021
Q8TAS1 (UniProtKB)
ISS
GO:0043021
Q8TAS1 (UniProtKB)
IBA
GO:0045948
Q8TAS1 (UniProtKB)
ISS
GO:0046777
Q8TAS1 (UniProtKB)
IDA
GO:0046825
Q8TAS1 (UniProtKB)
IDA
GO:0071598
Q8TAS1 (UniProtKB)
ISS

基因相关microRNA

基因相关microRNA

可能调控 UHMK1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
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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
Schizophrenia 0.011539974 5 0 BeFree_GAD_LHGDN
Precursor Cell Lymphoblastic Leukemia Lymphoma 0.002995792 1 0 BeFree_LHGDN
Leukemia, Myelocytic, Acute 0.002995792 1 0 BeFree_LHGDN
Plexiform Neurofibroma 0.002995792 1 0 BeFree_LHGDN
Nerve Sheath Tumors 0.00272435 1 0 LHGDN
MYELODYSPLASTIC SYNDROME 0.00272435 1 0 LHGDN
Diffuse Large B-Cell Lymphoma 0.000814326 3 0 BeFree
Congenital chromosomal disease 0.000271442 1 0 BeFree
Acute lymphocytic leukemia 0.000271442 1 0 BeFree
Acute Myeloid Leukemia Arising from Previous Myelodysplastic Syndrome 0.000271442 1 0 BeFree

基因相关文献

基因相关文献

UHMK1 regulates VM formation in OSCC by interacting with STMN1.
Guo Y, Feng Y, Ni X, Zhang X, Fang X, Li T, Wang N Biochim Biophys Acta Mol Basis Dis IF: 5.0 2026-08-00
EIF4A3-induced circEIF2S2 facilitates colorectal cancer growth, metastasis, and immune suppression via the miR-646/UHMK1 Axis.
Fu X, Zhang Z, Ning D, Liu Q, Zhao J, Cheng Q, Chen X, Jiang L Int J Biol Macromol IF: 8.7 2026-03-00
Integrating genetic, epigenetic, and clinical signatures via machine learning for robust prediction of leflunomide response in rheumatoid arthritis: a multi-center validation study.
Chen M, Liu H, Jin L, Feng X, Dai B, Wang F, Wang Q, Chen Y, Yi M, Jia B, Dong K, Zhang J, Fan Z, Li J, Zhao F, Jia Y, Wang J, Liu M, Xu J, Fu L Front Immunol IF: 7.0 None
Upregulated WDR5 promotes proliferation, self-renewal and chemoresistance in bladder cancer via mediating H3K4 trimethylation.
Chen Xu, Xie Weibin, Gu Peng, Cai Qingqing, Wang Bo, Xie Yun, Dong Wen, He Wang, Zhong Guangzheng, Lin Tianxin, Huang Jian Sci Rep IF: 4.9 2015-11-25
The protein kinase KIS impacts gene expression during development and fear conditioning in adult mice.
Manceau Valérie, Kremmer Elisabeth, Nabel Elizabeth G, Maucuer Alexandre PLoS One IF: 2.6 2013-02-12
A gene expression and systems pathway analysis of the effects of clozapine compared to haloperidol in the mouse brain implicates susceptibility genes for schizophrenia.
Rizig Mie A, McQuillin Andrew, Ng Aylwin, Robinson Michelle, Harrison Andrew, Zvelebil Marketa, Hunt Steve P, Gurling Hugh M J Psychopharmacol IF: 5.3 2013-01-11
The CATS (FAM64A) protein is a substrate of the Kinase Interacting Stathmin (KIS).
Archangelo Leticia Fröhlich, Greif Philipp A, Maucuer Alexandre, Manceau Valérie, Koneru Naresh, Bigarella Carolina L, Niemann Fernanda, dos Santos Marcos Tadeu, Kobarg Jörg, Bohlander Stefan K, Saad Sara Teresinha Olalla Biochim Biophys Acta 2013-06-20
Genetic and molecular exploration of UHMK1 in schizophrenic patients.
Dumaine Anne, Maucuer Alexandre, Barbet Aurélie, Manceau Valérie, Deshommes Jasmine, Méary Alexandre, Szöke Andrei, Schürhoff Franck, Llorca Pierre-Michel, Lancon Christophe, Leboyer Marion, Jamain Stéphane Psychiatr Genet IF: 1.4 2012-04-16
Cord blood administration induces oligodendrocyte survival through alterations in gene expression.
Rowe D D, Leonardo C C, Hall A A, Shahaduzzaman M D, Collier L A, Willing A E, Pennypacker K R Brain Res IF: 3.2 2011-03-21
Expression of kinase interacting with stathmin (KIS, UHMK1) in human brain and lymphoblasts: Effects of schizophrenia and genotype.
Bristow Greg C, Lane Tracy A, Walker Mary, Chen Li, Sei Yoshi, Hyde Thomas M, Kleinman Joel E, Harrison Paul J, Eastwood Sharon L Brain Res IF: 3.2 2010-01-05

基因相关服务

基因相关服务

基因相关评论

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