FH (fumarate hydratase)

基因基本信息

基因基本信息

symbol:
FH
locus group:
protein-coding gene
location:
1q43
gene_family:
alias symbol:
None
alias name:
fumarase
entrez id:
2271
ensembl gene id:
ENSG00000091483
ucsc gene id:
uc001hyx.4
refseq accession:
NM_000143
hgnc_id:
HGNC:3700
approved reserved:
2001-06-22

基因染色体位置

基因染色体位置

1q43

基因简述

基因简述

FH基因（延胡索酸水合酶基因）位于人类1号染色体（1q42.1），编码三羧酸循环（TCA循环）中的关键酶延胡索酸水合酶，该酶催化延胡索酸转化为苹果酸的反应。FH基因属于延胡索酸水合酶基因家族，该家族成员在真核生物和原核生物中高度保守，共同特点是参与能量代谢和维持线粒体功能。FH基因突变会导致延胡索酸水合酶活性丧失，造成延胡索酸积累，进而抑制α-酮戊二酸依赖性双加氧酶（如脯氨酰羟化酶），影响低氧诱导因子（HIF）的降解，最终导致假性缺氧反应，即使氧含量正常时也激活缺氧相关通路。这种代谢紊乱与遗传性平滑肌瘤病和肾细胞癌（HLRCC）综合征密切相关，患者表现为皮肤和子宫平滑肌瘤、侵袭性Ⅱ型肾癌等。FH基因功能缺失还会影响表观遗传修饰，因为延胡索酸积累会竞争性抑制组蛋白去甲基化酶和DNA去甲基化酶。FH过表达的情况较少见，但可能通过维持TCA循环效率促进能量生成；而表达降低则会导致代谢重编程，促使细胞转向有氧糖酵解（Warburg效应），为肿瘤细胞提供生长优势。此外，FH缺陷会影响铁硫簇生物合成，导致基因组不稳定。该基因的种系突变以常染色体显性方式遗传，但肿瘤发生需要体细胞二次打击（二次突变或杂合性缺失）。目前针对FH缺陷型肿瘤的治疗策略包括靶向糖酵解通路（如使用GLUT1抑制剂）或抗氧化治疗。

中文English

无

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

基因序列

基因序列

FH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
1MYRALRLLAR SRPLVRAPAA ALASAPGLGG AAVPSFWPPN
41AARMASQNSF RIEYDTFGEL KVPNDKYYGA QTVRSTMNFK
81 IGGVTERMP TPVIKAFGIL KRAAAEVNQD YGLDPKIANA
121IMKAADEVAE GKLNDHFPLV VWQTGSGTQT NMNVNEVISN
161R AIEMLGGE LGSKIPVHPN DHVNKSQSSN DTFPTAMHIA
201AAIEVHEVLL PGLQKLHDAL DAKSKEFAQI IKIGRTHTQD
241AV PLTLGQE FSGYVQQVKY AMTRIKAAMP RIYELAAGGT
281AVGTGLNTRI GFAEKVAAKV AALTGLPFVT APNKFEALAA
321HDA LVELSG AMNTTACSLM KIANDIRFLG SGPRSGLGEL
361ILPENEPGSS IMPGKVNPTQ CEAMTMVAAQ VMGNHVAVTV
401GGSN GHFEL NVFKPMMIKN VLHSARLLGD ASVSFTENCV
441VGIQANTERI NKLMNESLML VTALNPHIGY DKAAKIAKTA
481HKNGS TLKE TAIELGYLTA EQFDEWVKPK DMLGPK
结构预测来自 AlphaFold DB（UniProt: P07954），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

FH基因的碱基突变：           仅显示部分snp
rs1335898       rs1572380       rs2070080       rs2185626       rs2225788       rs2275162       rs2992644       rs2992645       rs2994990       rs3014576       rs3014577       rs4659606       rs4659607       rs4659608       rs4660098       rs4660099       rs6673988      

基因表达

基因表达

FH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
TCTTGGGCAGGAATTTAGTG
58
TAGATTCTTGGCATGGCAG
58
GCTGAAGTAAACCAGGATTATGG
60
ACCTTCAGCTACCTCATCTG
59
GAACTGTGGTTTGTTTCGC
58
GGTATCATATTCTATCCGGAAGG
58
GCTGAAGTAAACCAGGATTATGG
60
ACCTTCAGCTACCTCATCTG
59
CTGAAGTAAACCAGGATTATGGTC
59
TACCTTCAGCTACCTCATCTG
59
TGCACAGATCATCAAGATTGG
59
ACATAACCACTAAATTCCTGCC
59
CTGAAGTAAACCAGGATTATGGTC
59
TACCTTCAGCTACCTCATCTG
59
AACTGTGGTTTGTTTCGCC
60
GGTATCATATTCTATCCGGAAGGA
59
TTGCACAGATCATCAAGATTGG
59
CATAACCACTAAATTCCTGCCC
60
CAGATGAGGTAGCTGAAGG
57
TATTTGTCTGAGTTCCTGATCC
58

转录因子

转录因子

      尚未收录相关数据

基因本体信息

FH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

FH基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0004333
P07954 (UniProtKB)
EXP
GO:0005515
P07954 (UniProtKB)
IPI
GO:0005737
P07954 (UniProtKB)
TAS
GO:0005739
P07954 (UniProtKB)
IDA
GO:0005739
P07954 (UniProtKB)
IDA
GO:0005759
P07954 (UniProtKB)
TAS
GO:0005759
P07954 (UniProtKB)
TAS
GO:0005829
P07954 (UniProtKB)
IBA
GO:0006099
P07954 (UniProtKB)
IBA
GO:0006099
P07954 (UniProtKB)
IEA
GO:0006099
P07954 (UniProtKB)
TAS
GO:0006106
P07954 (UniProtKB)
IEA
GO:0006108
P07954 (UniProtKB)
IBA
GO:0045239
P07954 (UniProtKB)
IEA
GO:0048873
P07954 (UniProtKB)
IEA
GO:0051262
P07954 (UniProtKB)
IBA
GO:0070062
P07954 (UniProtKB)
IDA
GO:0070062
P07954 (UniProtKB)
IDA
GO:0070062
P07954 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 FH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
Reactome
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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
Hereditary Leiomyomatosis and Renal Cell Cancer 0.493843535 53 14 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Fumarase deficiency 0.360814326 5 6 BeFree_CLINVAR_ORPHANET_UNIPROT
Fumaric aciduria 0.240271442 1 0 BeFree_CTD_human_ORPHANET
Neoplastic Syndromes, Hereditary 0.120271442 1 8 BeFree_CLINVAR
Leiomyomatosis 0.022784762 22 0 BeFree_GAD_LHGDN
Fibroid Tumor 0.02214607 29 0 BeFree_GAD_LHGDN
Renal Cell Carcinoma 0.012334436 29 0 BeFree_GAD
Uterine Fibroids 0.009229024 34 0 BeFree
Kidney Neoplasm 0.008544182 7 0 BeFree_GAD_LHGDN
Renal carcinoma 0.005700279 21 0 BeFree

基因相关文献

基因相关文献

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Krauze A, Nguyen T, Sierk M, Jackson L, Chappidi S, Chen Q, Yan C, Hu Y, Harmon S, Tasci E, Cooley T, Sproull M, Mackey M, Meerzaman D, Camphausen K Res Sq 2026-03-18
Diagnosis of Familial Hypercholesterolemia in Children: From Clinical Features Through Gene Variants to Polygenic Score.
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Adherence to the Mediterranean Diet and Its Association with LDL-Cholesterol and Subendocardial Viability Ratio in Individuals with Familial Hypercholesterolemia: A Cross-Sectional Study.
Miano N, Scilletta S, Di Marco M, Capuccio S, Martedì M, Coppa M, Tincu N, Carasi S, Ippolito C, Pistritto C, Di Stefano C, Scarfia A, Pennisi C, Bosco G, Di Giacomo Barbagallo F, Di Pino A, Piro S, Scicali R Nutrients IF: 3.550 2026-03-14
Predicting the effect of hepatic disease on systemic drug exposure.
McNamara PJ, Fleishaker J, Meiman D J Pharm Sci IF: 3.9 2026-06-00
Beyond clear cell: Rare histologic and molecular variants of renal cell carcinoma.
Moradi A, Fann J, Zhang G, Pal SK, Sadimin E Urol Oncol IF: 2.8 2026-03-27
Comparison of Clinical Characterization and Therapeutic Strategies between Homozygous Familial Hypercholesterolemia and Heterozygous Familial Hypercholesterolemia.
Shishikura D, Harada-Shiba M, Michikura M, Sakaguchi K, Kusumoto H, Fujioka S, Fujisaka T, Kanzaki Y, Morita H J Atheroscler Thromb IF: 3.4 2026-07-01
Effectiveness and safety of treatment for heterozygous familial hypercholesterolaemia and multifactorial dyslipidaemia in children: an overview of systematic reviews.
Le Thi TG, Geist M, Novosad Y, Litwin A, Gomes D, Grünzner J, Koletzko B, Patro-Golab B Eur J Prev Cardiol IF: 10.0 2026-07-14
Plant-specific function of H3K9me3 as a permissive chromatin mark during Arabidopsis seed germination.
Yoon JW, Kang MJ, Jin H, Noh YS, Noh B Front Plant Sci IF: 5.9 None
Familial patterns of immune dysregulation in CVID: insights from B- and T-cell phenotyping and antibody profiling.
Comans SET, Sprenkeler EGG, Koenen MH, Simonetti E, Van Cranenbroek B, Van Rijssen E, Strik-Albers R, Koenen HJPM, van Dongen JJM, Verhagen LM, de Jonge MI, Henriet SSV Front Immunol IF: 7.0 None

基因相关服务

基因相关服务

基因相关评论

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