ECHS1(enoyl CoA hydratase, short chain, 1, mitochondrial) 转至新版数据库

基因基本信息

基因基本信息

基因简称(symbol)
    [HGNC]     [GeneCards]     [NCBI]
基因种类(locus group)
同源简称(alias symbol)
基因家族代码(gene_family_id)
    [HGNC]     [GenScript]
omim代码
entrez码
    [Vega]
vega基因码
ensembl基因码
    [Ensembl]
基因家族(gene family)
refseq数据库代号

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基因种类(locus_type)
基因名称状态(status)
location_sortable
同源基因名称(alias name)
基因名称批准使用时间(date_approved_reserved)
基因简称更名时间(date_symbol_changed)
基因名称更名时间(date_name_changed)
更新时间(date_modified)
ucsc码
ena
ccds数据码
uniprot数据码
pubmed代码
mgd码
rgd码
生命科学数据库(lsdb)
更新时间(date modified)
cosmic
mirbase
基因曾用简称(prev symbol)
基因曾用名称(prev name)
homeodb
cosmic
snornabase
bioparadigms slc
orphanet
假基因信息(pseudogeneorg)
horde id
merops
imgt
iuphar
kznf基因类别
mamit-trnadb
cd
LncRNA数据库
酶代码
中间纤维数据库

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基因染色体位置

基因染色体位置

10q26.2-q26.3
基因染色体位置图

基因简述

基因简述

The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]

[中文简述(自动翻译):]  在线粒体脂肪酸β-氧化途径的第二个步骤由该基因的功能进行编码的蛋白质。它催化的2-反烯酰 - 辅酶A（辅酶A）的中间体到L-3-羟基辅酶A水合。基因产物是水合酶/异构酶家族的成员。它定位于线粒体基质。利用替代转录起始位点的转录变体在文献中已有描述。 [由RefSeq的，2008年7月提供]

OMIM数据库中对ECHS1基因的介绍     Wikipedia数据库中对ECHS1基因的介绍

基因序列

基因序列

ECHS1基因的碱基序列：[NCBI]

基因突变

基因突变

ECHS1基因的碱基突变：           显示全部snp
rs4604       rs15116       rs1049951       rs1050040       rs2230260       rs2230261       rs2230262       rs3761858       rs3789323       rs3975639       rs3975641       rs3975643       rs3975645       rs3975646       rs4300324       rs4838679       rs4838729       rs4838730       rs6537598       rs6537599       rs7070775       rs7076036       rs7076650       rs7076652       rs7076835       rs7100433       rs7894051       rs7894291       rs7895829       rs7904198       rs10430612       rs10430613       rs10466126       rs10466127       rs10732633       rs10745294       rs10776675      
rs10857707       rs11101707       rs11101709       rs11101717       rs11101719       rs11818219       rs11818389       rs34219763       rs34349355       rs35775473       rs35819171       rs41310326       rs41313481       rs45506491       rs56019180       rs56046171       rs56055735       rs56142250       rs56694079       rs57958692       rs58331557       rs59979235       rs60706822       rs60958182       rs61290287       rs61403193       rs61671635       rs61869930       rs66501669       rs67089125       rs73390179       rs74164159       rs74164160       rs74164161       rs74164162       rs74164163       rs74164164       rs74164165       rs74164166       rs74164167       rs74164169       rs74164170       rs74819004       rs75009371       rs76117762       rs76273812       rs76833748       rs76939357       rs77113883       rs77614157       rs77728955       rs77884213       rs78049104       rs78171087       rs78741598       rs78775728       rs79000481       rs79459887       rs80036458       rs112236366       rs112309326       rs112389935       rs112772858       rs112879891       rs113068131       rs113149678       rs113253592       rs114051033       rs114142305       rs114624802       rs114654147       rs114753168       rs115104600       rs115381619       rs115390724       rs115462192       rs115721359       rs116457827       rs116786579       rs116952302       rs117344209       rs117641328       rs138098211       rs138169908       rs138437776       rs138522349       rs139839780       rs139886808       rs139896979       rs140234001       rs140262395       rs140289359       rs140308157       rs140410716       rs140814963       rs141140984       rs141145016       rs141262294       rs141400966       rs142271287       rs142430392       rs142639185       rs142657316       rs143098142       rs143138982       rs143195649       rs143246884       rs143257032       rs143572033       rs144031547       rs144111890       rs144364671       rs144396532       rs144800865       rs144801914       rs145290267       rs145332411       rs145474836       rs145514540       rs145541090       rs145643450       rs146010786       rs146037221       rs146121503       rs146397710       rs146455574       rs147070017       rs147465883       rs147632621       rs147820700       rs147875751       rs148263269       rs148408333       rs148875965       rs148902178       rs149289784       rs149399503       rs149586867       rs149814422       rs150076476       rs150321966       rs150370291       rs150493267       rs150759213       rs151006739       rs151140655       rs151298546       rs181006448       rs181328051       rs181805493       rs181993679       rs182626800       rs182934746       rs183469169       rs183520869       rs183588815       rs183899919       rs184302508       rs184515569       rs184559522       rs184836877       rs185176986       rs185186324       rs185210778       rs185960142       rs186221402       rs186464506       rs186703630       rs186704372       rs187183122       rs187287384       rs187675382       rs187865805       rs188104209       rs188457986       rs188884786       rs189105113       rs189272537       rs189727187       rs189795323       rs190058113       rs190409438       rs190452347       rs190753073       rs190929574       rs191212514       rs191269912       rs191414831       rs191814768       rs192155878       rs192303534       rs192497815       rs192716401       rs192848762       rs193119327       rs199625385       rs199890314       rs200073186       rs200195244       rs200293355       rs200304355       rs200584793       rs200664067       rs200838600       rs201315896       rs201457874       rs201621364       rs201865375       rs201938099       rs201966675       rs202089852       rs202197093       rs368715419       rs368743166       rs368985189       rs369960115       rs369982434       rs370494262       rs370517626       rs370541567       rs370542093       rs370636237       rs371517085       rs371568859       rs371582393       rs371936993       rs372224994       rs372349775       rs372408822       rs372655844       rs372816008       rs372823203       rs373579111       rs373601994       rs373706901       rs373947942       rs374193842       rs374404893       rs374537701       rs375032130       rs375187186       rs375266808       rs375487847       rs375647583       rs375706106       rs375893006       rs376187127       rs376200814       rs376728317       rs376899771       rs377176254       rs377279102       rs377573157       rs377628379       rs398015138       rs527657607       rs527758689       rs528593818       rs529275877       rs529401022       rs529947116       rs529952344       rs530198195       rs530438605       rs530755016       rs530835820       rs531045608       rs531233523       rs531296334       rs531431960       rs531517826       rs531581346       rs531789093       rs532031817       rs532043978       rs532058745       rs532299045       rs532849742       rs532862301       rs532902656       rs533041539       rs533066937       rs533183089       rs533187428       rs533244634       rs533463416       rs533476080       rs533652520       rs533681488       rs533694507       rs534552661       rs534594238       rs534619130       rs534858686       rs534962260       rs535059051       rs536226228       rs536386483       rs536827560       rs536929638       rs537016479       rs537334041       rs537538341       rs537540110       rs537624754       rs537993285       rs538205658       rs538323750       rs538330206       rs538451079       rs538526926       rs538732963       rs538932115       rs539119054       rs539212500       rs539250767       rs539331440       rs539344848       rs540354558       rs540405442       rs540626227       rs540639464       rs540787638       rs540990327       rs541011636       rs541171846       rs541371511       rs541587553       rs541690207       rs541708056       rs541823197       rs542430901       rs542673231       rs543352670       rs543519834       rs543581011       rs543665728       rs543745163       rs543905994       rs544089366       rs544344856       rs544766348       rs545183820       rs545353688       rs545739785       rs545947480       rs546041923       rs546299096       rs546370408       rs546532631       rs546894363       rs546897089       rs547125768       rs547157708       rs547186122       rs547217814       rs547236441       rs547340465       rs547513774       rs547519024       rs547744481       rs547802868       rs547804749       rs547816892       rs548458207       rs548557645       rs548931408       rs549097449       rs549167886       rs549187854       rs549290855       rs549378505       rs549788318       rs549950790       rs550499849       rs550897960       rs551624552       rs551735054       rs551775980       rs551816003       rs551890038       rs551891537       rs552593580       rs552689508       rs552797302       rs552942195       rs553082725       rs553399753       rs554730304       rs554734825       rs554822893       rs555016798       rs555137170       rs555161352       rs555348856       rs555404939       rs555678526       rs555938321       rs555950533       rs556101940       rs556149853       rs556274861       rs556849130       rs556999564       rs557059176       rs557059210       rs557128093       rs557129830       rs557140397       rs557599177       rs557660522       rs557723928       rs557775408       rs557787622       rs557861213       rs557946630       rs557993107       rs558256545       rs558536740       rs559002984       rs559239845       rs559552826       rs559699449       rs559703955       rs559766203       rs559771308       rs560090429       rs560296011       rs560359035       rs560543335       rs560723031       rs560932044       rs561207031       rs561517233       rs561531457       rs561599978       rs561678054       rs562145033       rs562184965       rs562199098       rs562210309       rs562299158       rs562317393       rs562773006       rs563055661       rs563121724       rs563323902       rs563343799       rs563600702       rs563927579       rs564116684       rs564133574       rs564182556       rs564189821       rs564193786       rs564598283       rs565050096       rs565090080       rs565115606       rs565351149       rs565775550       rs565843688       rs565915993       rs566004568       rs566128181       rs566320673       rs566458239       rs566510972       rs566614463       rs566939282       rs567100764       rs567114853       rs567121411       rs567134384       rs567475955       rs567736913       rs567810216       rs567889575       rs567908224       rs568402377       rs568420783       rs568422575       rs568442020       rs568557620       rs568561353       rs568564245       rs568632383       rs568645388       rs568744805       rs568879243       rs569494980       rs569720150       rs569741787       rs569877816       rs570341744       rs570498776       rs570805035       rs571358631       rs571512798       rs571520711       rs571537264       rs571935064       rs572159730       rs572463019       rs572627160       rs572639381       rs572807097       rs572812823       rs572919195       rs573418441       rs573873276       rs574007845       rs574274974       rs574583944       rs574663942       rs574682121       rs574849391       rs575542825       rs575638199       rs575752150       rs575762722       rs575813264       rs575828071       rs575873191       rs575887125       rs575887184       rs575987836       rs576661655       rs576717968       rs576730414       rs577227280       rs577598071       rs587776498       rs745362960       rs745469549       rs745633760       rs745933873       rs746184448       rs746519257       rs746646265       rs746889781       rs747070381       rs747369268       rs747582182       rs747622060       rs747750503       rs747933229       rs748120988       rs748606697       rs748723043       rs748912330       rs749094077       rs749352934       rs749433804       rs749942333       rs749950906       rs750148216       rs750267389       rs750584290       rs750636876       rs750839674       rs750861969       rs751113264       rs751276716       rs751306953       rs751562208       rs751581356       rs751723650       rs751842862       rs752040343       rs752132371       rs752225756       rs752416594       rs752488278       rs752594630       rs752716314       rs752821967       rs753198060       rs753557738       rs753635651       rs753653919       rs753793522       rs754023167       rs754134439       rs754196228       rs754378922       rs754609693       rs754728198       rs754815893       rs754957782       rs755045362       rs755155569       rs755167071       rs755411574       rs755536429       rs755572793       rs755635585       rs755794586       rs756064466       rs756427513       rs756515697       rs756873709       rs757039687       rs757127640       rs757249607       rs757460810       rs757605949       rs757722013       rs757807925       rs758086479       rs758144044       rs758234030       rs758406761       rs758504744       rs758723288       rs759068105       rs759116540       rs759464804       rs759648410       rs759707692       rs759771909       rs759853219       rs760142392       rs760182094       rs760524086       rs760615795       rs760615933       rs761004342       rs761183272       rs761464256       rs761568718       rs761774772       rs761989177       rs762331214       rs762333351       rs762690998       rs762808911       rs762885546       rs763063200       rs763135144       rs763297386       rs763796581       rs763810635       rs763902393       rs764075131       rs764148272       rs764179108       rs764269107       rs764304433       rs764488387       rs764679717       rs765131350       rs765217666       rs765445288       rs765526286       rs765613112       rs765614993       rs765666397       rs765896234       rs765943111       rs766317988       rs766684481       rs766688016       rs767246540       rs767247598       rs767283110       rs767663186       rs768173453       rs768233927       rs768667557       rs768726914       rs769170809       rs769198495       rs769232756       rs769320702       rs769429279       rs769650533       rs769725255       rs769781968       rs769817437       rs770332073       rs770614061       rs770786393       rs770872368       rs770887037       rs770931871       rs771253361       rs771662887       rs771901198       rs771935232       rs771987171       rs772023125       rs772331270       rs772540968       rs772585791       rs772695757       rs772867293       rs772882273       rs772958061       rs773266371       rs773461122       rs773727263       rs774009660       rs774078213       rs774199888       rs774304987       rs774394880       rs774680749       rs774760601       rs774840856       rs775160487       rs775459392       rs775650144       rs775833766       rs775894295       rs775905890       rs776186632       rs776308737       rs776584384       rs776926045       rs777218310       rs777988590       rs778297674       rs778409987       rs778498370       rs778685603       rs778775545       rs779136757       rs779521503       rs779629732       rs779713895       rs779720008       rs779922133       rs780009634       rs780204042       rs780296621       rs781348310       rs781373718       rs781545463       rs781754939      

基因表达

基因表达

ECHS1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
正向引物Tm值
反向引物序列
反向引物Tm值
rank
CAACCTTTGCCACTGATGAC
60
CTCACTGGTCTTTGAAGTTGG
59
GAAGACCTTCGAGGAGGAC
59
GATATCAGCTCCAGCTGCA
60
GAAGACCTTCGAGGAGGAC
59
TGATATCAGCTCCAGCTGC
60

转录因子

转录因子

      尚未收录相关数据

基因本体信息

ECHS1基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 溶酶体
  • 内涵体
  • 细胞核
  • 细胞质
  • 液泡
  • 细胞膜
  • 细胞外基质
  • 内质网
  • 线粒体
  • 高尔基体
  • 细胞骨架

ECHS1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0004300
P30084(UniProtKB)
TAS
GO:0004300
P30084(UniProtKB)
TAS
GO:0004300
P30084(UniProtKB)
TAS
GO:0004300
P30084(UniProtKB)
TAS
GO:0004300
P30084(UniProtKB)
TAS
GO:0005515
P30084(UniProtKB)
IPI
GO:0005515
P30084(UniProtKB)
IPI
GO:0005515
P30084(UniProtKB)
IPI
GO:0005515
P30084(UniProtKB)
IPI
GO:0005515
P30084(UniProtKB)
IPI
GO:0005515
P30084(UniProtKB)
IPI
GO:0005739
P30084(UniProtKB)
IDA
GO:0005739
P30084(UniProtKB)
TAS
GO:0005759
P30084(UniProtKB)
TAS
GO:0005759
P30084(UniProtKB)
TAS
GO:0005759
P30084(UniProtKB)
TAS
GO:0005759
P30084(UniProtKB)
TAS
GO:0005759
P30084(UniProtKB)
TAS
GO:0006635
P30084(UniProtKB)
IEA
GO:0006635
P30084(UniProtKB)
TAS
GO:0006635
P30084(UniProtKB)
TAS
GO:0006635
P30084(UniProtKB)
TAS
GO:0006635
P30084(UniProtKB)
TAS
GO:0006635
P30084(UniProtKB)
TAS
GO:0070062
P30084(UniProtKB)
IDA

基因相互作用关系

基因相互作用关系

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

基因相关microRNA

基因相关microRNA

可能调控ECHS1基因的相关microRNA：     

基因通路图

基因通路图

基因的通路属性图
通路基因列表

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
Leigh Disease 0.120814326 3 2 BeFree_CLINVAR
Obesity 0.12 1 0 CTD_human
Stomach Neoplasms 0.12 1 0 CTD_human
Glioblastoma 0.002995792 1 0 BeFree_LHGDN
Liver carcinoma 0.001085767 4 0 BeFree
Malignant neoplasm of breast 0.000271442 1 0 BeFree
Colorectal Carcinoma 0.000271442 1 0 BeFree
Hepatitis 0.000271442 1 0 BeFree
Hepatitis A 0.000271442 1 0 BeFree
Hepatitis B 0.000271442 1 0 BeFree
Malignant neoplasm of stomach 0.000271442 1 0 BeFree
Inborn Errors of Metabolism 0.000271442 1 0 BeFree
Liver and Intrahepatic Biliary Tract Carcinoma 0.000271442 1 0 BeFree
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 0.000271442 1 0 BeFree
Malignant neoplasm of liver 0.000271442 1 0 BeFree
Carcinogenesis 0.000271442 1 0 BeFree
Breast Carcinoma 0.000271442 1 0 BeFree
Stomach Carcinoma 0.000271442 1 0 BeFree
Mitochondrial Respiratory Chain Deficiencies 0.000271442 1 0 BeFree
Colorectal Cancer 0.000271442 1 0 BeFree

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