SLX4基因详情-基因数据库-基因云馆

SLX4 (SLX4 structure-specific endonuclease subunit)

symbol:: SLX4
locus group:: protein-coding gene
location:: 16p13.3
gene_family:: Fanconi anemia, complementation groups|BTB (POZ) domain containing
alias symbol:: KIAA1784|KIAA1987|FANCP
alias name:: Fanconi anemia, complementation ...
entrez id:: 84464
ensembl gene id:: ENSG00000188827
ucsc gene id:: uc002cvp.3
refseq accession:: NM_032444
hgnc_id:: HGNC:23845
approved reserved:: 2003-12-15

16p13.3

SLX4（也称为BTBD12或FANCP）是一个在DNA损伤修复和基因组稳定性维持中起关键作用的基因。它编码的蛋白质SLX4是一种支架蛋白，能够协调多种核酸酶（如XPF-ERCC1、MUS81-EME1和SLX1）的活性，参与DNA链间交联（ICL）修复、同源重组（HR）和端粒维护等过程。SLX4属于FANC（Fanconi anemia）基因家族，该家族成员共同参与Fanconi贫血通路，负责修复DNA交联损伤。FANC基因家族的共性在于它们编码的蛋白质形成一个核心复合物，在DNA损伤响应中协同工作，确保基因组稳定性。SLX4的突变会导致Fanconi贫血（一种罕见的遗传性疾病），表现为骨髓衰竭、先天性畸形和癌症易感性增加。此外，SLX4突变还与乳腺癌、卵巢癌等癌症风险升高相关。如果SLX4过表达，可能增强DNA修复能力，但异常高表达也可能导致基因组不稳定性，甚至促进肿瘤发生。相反，SLX4表达降低会削弱DNA修复功能，导致细胞对DNA损伤剂（如顺铂）敏感，并增加染色体畸变和细胞凋亡的风险。SLX4还与其他基因（如BRCA1/2）相互作用，共同维持基因组完整性。在端粒维护中，SLX4与端粒酶协同作用，防止端粒缩短和染色体末端融合。总之，SLX4是一个多功能基因，其正常表达对细胞存活和疾病预防至关重要。

中文English

该基因编码的具体结构内切酶亚基。编码的蛋白含有一个中央BTB域，它形成了一个多蛋白复合物与ERCC4（XPF）-ERCC1，MUS81-EME1和SLX1核酸内切酶，同时还与MSH2 / MSH3错配修复复杂的关联，端粒结合复杂TERF2（TRF2） - TERF2IP（RAP1），蛋白激酶PLK1和未表征的蛋白C20orf94。该多蛋白复合物所需的特定类型的DNA损伤的修复，并用于向复制叉失败细胞应答是至关重要的。该编码的蛋白作为一个对接平台多结构特异性核酸内切酶的组装。[由RefSeq的，2011年1月提供]

OMIM数据库中对SLX4基因的介绍 Wikipedia数据库中对SLX4基因的介绍

SLX4基因的碱基序列：[NCBI]

Loading Gene Browser...

蛋白质序列

1MKLSVNEAQL GFYLGSLSHL SACPGIDPRS SEDQPESLKT
41GQMMDESDED FKELCASFFQ RVKKHGIKEV SGERKTQKAA
81
SNGTQIRSK LKRTKQTATK TKTLQGPAEK KPPSGSQAPR
121TKKQRVTKWQ ASEPAHSVNG EGGVLASAPD PPVLRETAQN
161T
QTGNQQEP SPNLSREKTR ENVPNSDSQP PPSCLTTAVP
201SPSKPRTAQL VLQRMQQFKR ADPERLRHAS EECSLEAARE
241EN
VPKDPQE EMMAGNVYGL GPPAPESDAA VALTLQQEFA
281RVGASAHDDS LEEKGLFFCQ ICQKNLSAMN VTRREQHVNR
321CLD
EAEKTL RPSVPQIPEC PICGKPFLTL KSRTSHLKQC
361AVKMEVGPQL LLQAVRLQTA QPEGSSSPPM FSFSDHSRGL
401KRRG
PTSKK EPRKRRKVDE APSEDLLVAM ALSRSEMEPG
441AAVPALRLES AFSERIRPEA ENKSRKKKPP VSPPLLLVQD
481SETTG
RQIE DRVALLLSEE VELSSTPPLP ASRILKEGWE
521RAGQCPPPPE RKQSFLWEGS ALTGAWAMED FYTARLVPPL
561VPQRPA
QGL MQEPVPPLVP PEHSELSERR SPALHGTPTA
601GCGSRGPSPS ASQREHQALQ DLVDLAREGL SASPWPGSGG
641LAGSEGT
AG LDVVPGGLPL TGFVVPSQDK HPDRGGRTLL
681SLGLLVADFG AMVNNPHLSD VQFQTDSGEV LYAHKFVLYA
721RCPLLIQY
V NNEGFSAVED GVLTQRVLLG DVSTEAARTF
761LHYLYTADTG LPPGLSSELS SLAHRFGVSE LVHLCEQVPI
801ATDSEGKPW
 EEKEAENCES RAENFQELLR SMWADEEEEA
841ETLLKSKDHE EDQENVNEAE MEEIYEFAAT QRKLLQEERA
881AGAGEDADWL 
EGGSPVSGQ LLAGVQVQKQ WDKVEEMEPL
921EPGRDEAATT WEKMGQCALP PPQGQHSGAR GAEAPEQEAP
961EEALGHSSCS S
PSRDCQAE RKEGSLPHSD DAGDYEQLFS
1001STQGEISEPS QITSEPEEQS GAVRERGLEV SHRLAPWQAS
1041PPHPCRFLLG PP
QGGSPRG SHHTSGSSLS TPRSRGGTSQ
1081VGSPTLLSPA VPSKQKRDRS ILTLSKEPGH QKGKERRSVL
1121ECRNKGVLMF PEK
SPSIDL TQSNPDHSSS RSQKSSSKLN
1161EEDEVILLLD SDEELELEQT KMKSISSDPL EEKKALEISP
1201RSCELFSIID VDAD
QEPSQ SPPRSEAVLQ QEDEGALPEN
1241RGSLGRRGAP WLFCDRESSP SEASTTDTSW LVPATPLASR
1281SRDCSSQTQI SSLRS
GLAV QAVTQHTPRA SVGNREGNEV
1321AQKFSVIRPQ TPPPQTPSSC LTPVSPGTSD GRRQGHRSPS
1361RPHPGGHPHS SPLAPH
PIS GDRAHFSRRF LKHSPPGPSF
1401LNQTPAGEVV EVGDSDDEQE VASHQANRSP PLDSDPPIPI
1441DDCCWHMEPL SPIPIDH
WN LERTGPLSTS SPSRRMNEAA
1481DSRDCRSPGL LDTTPIRGSC TTQRKLQEKS SGAGSLGNSR
1521PSFLNSALWD VWDGEEQR
P PETPPPAQMP SAGGAQKPEG
1561LETPKGANRK KNLPPKVPIT PMPQYSIMET PVLKKELDRF
1601GVRPLPKRQM VLKLKEIFQ
 YTHQTLDSDS EDESQSSQPL
1641LQAPHCQTLA SQTYKPSRAG VHAQQEATTG PGAHRPKGPA
1681KTKGPRHQRK HHESITPPSR 
SPTKEAPPG LNDDAQIPAS
1721QESVATSVDG SDSSLSSQSS SSCEFGAAFE SAGEEEGEGE
1761VSASQAAVQA ADTDEALRCY I
RSKPALYQ KVLLYQPFEL
1801RELQAELRQN GLRVSSRRLL DFLDTHCITF TTAATRREKL
1841QGRRRQPRGK KKVERN

结构预测来自 AlphaFold DB（UniProt: Q8IY92），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

SLX4基因的碱基突变：仅显示部分snp

rs11076781 rs12924990 rs58380344 rs60918224 rs61468947 rs74870447 rs76396575 rs77224704 rs78928283 rs111311335 rs111319781 rs111464001 rs111464529 rs111733786 rs112135563 rs112184143 rs112345699

SLX4基因在不同组织中的表达： [UniProt]

正向引物序列

正向Tm值

反向引物序列

反向Tm值

评分

TTCAGAAGAGTGCTCCCTC

59

CCAAGCCCATACACATTCC

59

TTCAGAAGAGTGCTCCCTC

59

CCAAGCCCATACACATTCC

59

GTGTGCTGTGAAGATGGAG

59

TCACTGAAGCTGAACATGG

58

AACTGGATAGGTTTGGAGTC

57

GGTGAGTGTACTGGAATATCTC

58

CTTCAGAAGAGTGCTCCCT

59

CAAGCCCATACACATTCCC

59

CTTCAGAAGAGTGCTCCCT

59

CAAGCCCATACACATTCCC

59

CTGTGAAGATGGAGGTTGG

58

ATCACTGAAGCTGAACATGG

58

AGAAGGAACTGGATAGGTTTGG

60

TGTACTGGAATATCTCCTTCAGC

60

TTCAGAAGAGTGCTCCCTC

59

CAAGCCCATACACATTCCC

59

CTGTGAAGATGGAGGTTGG

58

TCACTGAAGCTGAACATGG

58

尚未收录相关数据

SLX4基因（以及对应的蛋白质）的细胞分布位置：

[UniProt] [GenomeNet]

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

SLX4基因的本体（GO）信息：

GO库代码

对应的蛋白质

来源代码

GO:0000724

Q8IY92 (UniProtKB)

IMP

GO:0000724

Q8IY92 (UniProtKB)

IMP

GO:0004520

Q8IY92 (UniProtKB)

TAS

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005515

Q8IY92 (UniProtKB)

IPI

GO:0005654

Q8IY92 (UniProtKB)

IDA

GO:0005654

Q8IY92 (UniProtKB)

TAS

GO:0005654

Q8IY92 (UniProtKB)

TAS

GO:0005654

Q8IY92 (UniProtKB)

TAS

GO:0005654

Q8IY92 (UniProtKB)

TAS

GO:0005737

Q8IY92 (UniProtKB)

IDA

GO:0006260

Q8IY92 (UniProtKB)

IEA

GO:0006281

Q8IY92 (UniProtKB)

IMP

GO:0006289

Q8IY92 (UniProtKB)

IMP

GO:0008047

Q8IY92 (UniProtKB)

IDA

GO:0010792

Q8IY92 (UniProtKB)

IMP

GO:0030054

Q8IY92 (UniProtKB)

IDA

GO:0033557

Q8IY92 (UniProtKB)

IDA

GO:0033557

Q8IY92 (UniProtKB)

IDA

GO:0033557

Q8IY92 (UniProtKB)

IDA

GO:0036297

Q8IY92 (UniProtKB)

TAS

GO:0043085

Q8IY92 (UniProtKB)

IEA

GO:0072429

Q8IY92 (UniProtKB)

IMP

GO:0090656

Q8IY92 (UniProtKB)

ISS

GO:1904431

Q8IY92 (UniProtKB)

ISS

GO:0000784

Q8IY92 (UniProtKB)

IDA

GO:0000790

Q8IY92 (UniProtKB)

IDA

GO:0048476

Q8IY92 (UniProtKB)

IDA

GO:0048476

Q8IY92 (UniProtKB)

IDA

GO:0048476

Q8IY92 (UniProtKB)

IDA

GO:0070522

Q8IY92 (UniProtKB)

IDA

GO:0070522

Q8IY92 (UniProtKB)

IDA

GO:0070522

Q8IY92 (UniProtKB)

IDA

GO:0008821

Q8IY92 (UniProtKB)

IDA

GO:0008821

Q8IY92 (UniProtKB)

IDA

GO:0008821

Q8IY92 (UniProtKB)

IDA

GO:0017108

Q8IY92 (UniProtKB)

IDA

GO:0017108

Q8IY92 (UniProtKB)

IDA

GO:0017108

Q8IY92 (UniProtKB)

IDA

GO:0048257

Q8IY92 (UniProtKB)

IDA

GO:0048257

Q8IY92 (UniProtKB)

IDA

可能调控 SLX4基因的相关microRNA：

hsa-miR-32 hsa-miR-340 hsa-miR-744

String

BioGrid

IntAct

mentha

加载中…

关联基因	作用方式	资源库来源/分值

KEGG

名称
3460 Fanconi anemia pathway [PATH:hsa03460]

疾病名称

关系值

NofPmids

NofSnps

来源

疾病名称	关系值	NofPmids	NofSnps	来源
Fanconi Anemia	0.242171535	9	0	BeFree_CTD_human_ORPHANET
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	0.002171535	8	0	BeFree
Malignant neoplasm of breast	0.001085767	4	0	BeFree
Breast Carcinoma	0.001085767	4	0	BeFree
Breast Cancer, Familial	0.000814326	3	0	BeFree

Improved method for the generation of double Holliday junction DNAs.

Shah Punatar R, Ho HN, West SC Anal Biochem IF: 3.1 2026-07-00

STK11 and DNA Repair Gene Mutations Define Hereditary Subset of Middle Eastern Papillary Thyroid Cancer.

Bu R, Haqawi W, Razzaq EAA, Azam S, Iqbal K, Qadri Z, Parvathareddy SK, Alrasheed M, Alobaisi K, Al-Dayel F, Siraj AK, Al-Kuraya KS Int J Mol Sci IF: 3.226 2026-03-14

Slx4 and Fun30/SMARCAD1 coordinate S-phase checkpoint regulation and replication fork protection in response to Top1-DNA crosslinks.

Courtes M, Boissière T, Barthe A, Pasero P, Pardo B Nucleic Acids Res IF: 15.0 2026-04-13

Sequential Use of Trastuzumab Deruxtecan and Sacituzumab Govitecan in Patients with Breast Cancer: A Pharmacological Approach to Support the Clinical Rationale.

Del Re M, Inglese E, Bria E, Blok EJ, Mathijssen RHJ, Curigliano G, Danesi R Drugs IF: 14.7 2026-06-00

Cruciform-forming AT/TA repeats are acted upon by structure-selective endonucleases and Rad51 prior to repositioning to the nuclear periphery for repair.

Boer JL, Crippen SM, Kim AJ, Kramer DN, Theulot B, Dovrat D, Aharoni A, Smith DJ, Freudenreich CH Nucleic Acids Res IF: 15.0 2026-02-24

Dual-site phosphorylation of SLX4 stabilizes the SLX4-MUS81 interface to promote mitotic SMX assembly and genome protection.

Payliss BJ, Yun HY, Doshi S, Lemak A, Tse YWE, Aprosoff CM, Houliston S, Arrowsmith CH, Wyatt HDM Nucleic Acids Res IF: 15.0 2026-05-05

CIP2A recruits SLX4-MUS81-XPF in mitosis and protects against replication stress.

Meroni A, Pellizzari A, Varisco N, Leone F, Greco G, Hänel A, Brasier-Lutz P, Witzel I, Sartori AA, Stucki M EMBO Rep IF: 6.0 2026-07-00

Scutellarin as a specific GEN1 inhibitor synergizes with olaparib to induce synthetic lethality in human tumor cells.

Zhan B, Zhong Y, Chen X, Dai Y, Du L, Lin Z, Li Z Bioorg Chem IF: 5.1 2026-08-18

CHK2 regulates MUS81-dependent DSBs in response to replication stress and BRCA2 deficiency.

Malacaria E, Figlioli C, Palma A, Honda M, Valenzisi P, Casella M, Camerini S, Pucci F, Rinalducci S, Semproni M, Spies M, Franchitto A, Pichierri P Nucleic Acids Res IF: 15.0 2026-08-10

Secoemestrin C exerts rapid and prominent anti-breast cancer effect in triple-negative breast cancer by inducing SLX4 and YAP degradation.

Zhao XJ, Xu Y, Zhang CH, Zhao C, Liu L, Wang XW, Wang MY, Gao ZX, Shao RG, Qi LQ, Che YS, Zhao WL Acta Pharmacol Sin IF: 10.4 2026-05-00

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SLX4 (SLX4 structure-specific endonuclease subunit)

基因基本信息

基因基本信息

基因染色体位置

基因染色体位置

基因简述

基因简述

基因序列

基因序列

编码蛋白质

编码蛋白质

基因突变

基因突变

基因表达

基因表达

基因引物

基因引物

转录因子

转录因子

尚未收录相关数据

基因本体信息

基因相关microRNA

基因相关microRNA

基因相互作用关系

基因相互作用关系

基因通路

基因通路

基因相关疾病

基因相关疾病

基因相关文献

基因相关文献

基因相关服务

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