ACY1(aminoacylase 1) 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

更多...

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

3p21.2
基因染色体位置图

基因简述

基因简述

This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in GeneID:100526760. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Nov 2010]

[中文简述(自动翻译):]  这个基因编码胞质，同二聚体，锌结合酶催化酰化的L-氨基酸的L-氨基酸和酰基的水解，已经假定在酰化氨基的分解代谢和打捞起作用酸。这个基因位于3p21.1染色体，在小细胞肺癌（SCLC）减少到纯合的区域，它的表达已经报道在SCLC细胞系和肿瘤中降低或不可检测的。人类酰化氨基酸水解酶-1的氨基酸序列是高度同源的猪配对，并且这种酶是锌结合的酶的一个新家族的第一个成员。这种基因突变的原因氨基酰化酶-1缺乏，代谢紊乱特点是中枢神经系统的缺陷和N-乙酰化氨基酸增加尿排泄。这个基因的选择性剪接的结果在多个转录变体。读通过转录也是这个基因和上游ABHD14A（含abhydrolase 14A域）的基因之间存在，在GeneID表示：100526760。一个相关的假基因已被确定在[由RefSeq的，2010年11月提供] 18号染色体

OMIM数据库中对ACY1基因的介绍     Wikipedia数据库中对ACY1基因的介绍

基因序列

基因序列

ACY1基因的碱基序列：[NCBI]

基因突变

基因突变

ACY1基因的碱基突变：           显示全部snp
rs82854       rs178917       rs323890       rs323891       rs323892       rs323893       rs323894       rs323895       rs887540       rs887541       rs2229152       rs6804746       rs11442467       rs11544304       rs34017492       rs34294622       rs34300686       rs34879976       rs41292352       rs56715917       rs62259755       rs62259756       rs71084166       rs71633086       rs74600325       rs74974740       rs76718332       rs76887619       rs77168544       rs79588843       rs79933880       rs111321512       rs111926381       rs112200329       rs112396905       rs112726414       rs113272065      
rs114406523       rs114952947       rs115142704       rs115854290       rs117006911       rs117401700       rs121912698       rs121912699       rs121912700       rs121912701       rs137929799       rs138244526       rs138461347       rs138645688       rs138765157       rs139006421       rs139048354       rs139260677       rs139537461       rs140738368       rs141541730       rs141824939       rs142558042       rs142661076       rs143009293       rs143611624       rs143678651       rs143989731       rs144076997       rs144857039       rs144950618       rs145142945       rs145367731       rs146063664       rs146257644       rs146278756       rs146324994       rs146664871       rs146715684       rs146893272       rs147957799       rs148109993       rs148346337       rs148501801       rs148942228       rs149475049       rs149952009       rs150031355       rs150225702       rs150416778       rs150480963       rs150956099       rs151113757       rs180706866       rs183235741       rs183323554       rs183620848       rs185045735       rs185086428       rs185614246       rs186246885       rs187850374       rs187995136       rs188116490       rs188500751       rs191052760       rs191407270       rs193032587       rs199510878       rs199526655       rs199634670       rs199711070       rs199947344       rs199990594       rs200012512       rs200116455       rs200156498       rs200262033       rs200314495       rs200500757       rs200518761       rs200621975       rs200685202       rs200799186       rs200803468       rs200895743       rs201015248       rs201048015       rs201184882       rs201362814       rs201515405       rs201547992       rs201647575       rs201696615       rs201775925       rs201833015       rs202098129       rs202206383       rs202207844       rs202227748       rs202245244       rs367705271       rs367719708       rs367975670       rs368392973       rs368998510       rs369112333       rs369601901       rs369735251       rs370174360       rs370264207       rs370503681       rs370858076       rs371090325       rs371320332       rs371375777       rs371565753       rs371747869       rs371844074       rs371948749       rs371970249       rs372379597       rs372443112       rs372884565       rs373194192       rs373449750       rs373652323       rs373972467       rs374652130       rs374697368       rs375054037       rs375378800       rs375745476       rs376017177       rs376332074       rs377254193       rs377652198       rs377657636       rs527550351       rs528196954       rs528505269       rs529152973       rs529239745       rs529679219       rs529755874       rs530170934       rs531342548       rs532066336       rs532278770       rs532348676       rs532615505       rs533034358       rs534402739       rs534542927       rs534644598       rs534913640       rs535772471       rs536976365       rs537063139       rs537460578       rs537500729       rs538435623       rs538753684       rs539155404       rs539776749       rs539819737       rs540033851       rs540720153       rs540753962       rs542047121       rs542934203       rs543218041       rs544624060       rs544709970       rs544960661       rs545047269       rs545392901       rs545489719       rs546049836       rs546642804       rs547039310       rs547722934       rs548175302       rs548257691       rs549164021       rs550631742       rs550839605       rs551600646       rs552931654       rs553083884       rs553270370       rs554462231       rs554586640       rs554899244       rs555637708       rs555950966       rs556752945       rs557112022       rs557151124       rs557503193       rs557856270       rs558022078       rs558367184       rs558405634       rs559200011       rs559727384       rs559889981       rs560240530       rs560322527       rs560412001       rs560744986       rs560780813       rs562095111       rs562290997       rs563268741       rs563452836       rs564349352       rs564619780       rs564737204       rs564775955       rs565452623       rs566048881       rs566135627       rs566568022       rs566905042       rs567120906       rs567364576       rs567810702       rs567967475       rs568330971       rs569059581       rs569787345       rs570382643       rs570814154       rs570898287       rs571131960       rs571146509       rs571836126       rs572331480       rs572351649       rs572776317       rs573426652       rs573450813       rs574234361       rs574268616       rs574494140       rs575896717       rs575978688       rs577034765       rs578056985       rs578146198       rs672601330       rs745418335       rs745456534       rs745705587       rs745793135       rs745811144       rs745876591       rs746031558       rs746253999       rs746404305       rs746576896       rs746578528       rs746589556       rs746741335       rs746844770       rs746978536       rs747264873       rs747634973       rs747746548       rs747751698       rs748062580       rs748110984       rs748268468       rs748358484       rs748602399       rs748705494       rs748844903       rs748877320       rs748932928       rs749160051       rs749167670       rs749204999       rs749283684       rs749409512       rs749546290       rs749710614       rs749815756       rs749925062       rs750019054       rs750037617       rs750131593       rs750191917       rs750232939       rs750408037       rs750759726       rs750863971       rs750876815       rs750916171       rs751001848       rs751005723       rs751082521       rs751168607       rs751187127       rs751274835       rs751392988       rs751422386       rs751543477       rs751660684       rs751976937       rs751995270       rs752019691       rs752201167       rs752495351       rs752543552       rs752566245       rs752853151       rs752889933       rs753158294       rs753195150       rs753477109       rs753626169       rs753772093       rs753999304       rs754034031       rs754050391       rs754136544       rs754287956       rs754336711       rs754454344       rs754591707       rs754683815       rs754758246       rs754968365       rs754984711       rs755232868       rs755322908       rs755339463       rs755424753       rs755790575       rs755809305       rs755816924       rs755887133       rs756100159       rs756374840       rs756591435       rs756681290       rs756943526       rs757035121       rs757057169       rs757187467       rs757204825       rs757575874       rs757739270       rs757785119       rs757825436       rs757840349       rs757878160       rs758095830       rs758148231       rs758185370       rs758307539       rs758307659       rs758355874       rs758400211       rs758418338       rs758501745       rs758540611       rs758637967       rs758647550       rs758684643       rs758737597       rs758797065       rs759194658       rs759281986       rs759441458       rs759452517       rs759618209       rs759650723       rs759658006       rs759698855       rs759984008       rs760064433       rs760071840       rs760121248       rs760174812       rs760224045       rs760355706       rs760443642       rs760666591       rs760696045       rs760789730       rs760823696       rs760962010       rs760992766       rs761153702       rs761188096       rs761366650       rs761533944       rs761551809       rs761997050       rs762010680       rs762029113       rs762029234       rs762117538       rs762285415       rs762427492       rs762499062       rs762693265       rs763003124       rs763073030       rs763087650       rs763508810       rs763565613       rs763707851       rs763793253       rs763897685       rs764011222       rs764019840       rs764054877       rs764424458       rs764452114       rs764753052       rs764831604       rs764849379       rs765033664       rs765250665       rs765511074       rs765533063       rs765817209       rs765820127       rs765848491       rs765987747       rs766012773       rs766201519       rs766664678       rs766679229       rs766953695       rs767065796       rs767155768       rs767368892       rs767528877       rs767831273       rs767883393       rs767973120       rs768036150       rs768099751       rs768265341       rs768267157       rs768411838       rs768449250       rs768535020       rs769087426       rs769123762       rs769322829       rs769337371       rs769587878       rs769660106       rs769675881       rs769746453       rs769822613       rs769973427       rs770133911       rs770282505       rs770312240       rs770313896       rs770471299       rs770612976       rs770683360       rs770702363       rs770876446       rs770884342       rs770948498       rs771114222       rs771130668       rs771263961       rs771353831       rs771478383       rs771535708       rs771698889       rs771787015       rs771815876       rs771834533       rs771901106       rs772082535       rs772174586       rs772330147       rs772423636       rs772515725       rs772602624       rs772614141       rs772673103       rs772696677       rs772747555       rs772837562       rs772865045       rs772917167       rs773126638       rs773133252       rs773211477       rs773227766       rs773286498       rs773509155       rs773549762       rs773597500       rs773804575       rs773966256       rs774059852       rs774101500       rs774108385       rs774268406       rs774500165       rs774665962       rs774865422       rs774953551       rs775070748       rs775072422       rs775230033       rs775409508       rs775524508       rs775701284       rs775907661       rs776090724       rs776094043       rs776185574       rs776274576       rs776275547       rs776300269       rs776664280       rs776825227       rs776913493       rs776923612       rs777164622       rs777230910       rs777444730       rs777531172       rs777692573       rs777725907       rs777813954       rs777838025       rs777992282       rs778210004       rs778273193       rs778293174       rs778579986       rs778587532       rs778766008       rs778785581       rs778941108       rs779032802       rs779240407       rs779320650       rs779343346       rs779377654       rs779410647       rs779541256       rs779543599       rs779725628       rs779815701       rs779886954       rs779896363       rs779988419       rs779999350       rs780101072       rs780385500       rs780419517       rs780520652       rs780523434       rs780541505       rs780545016       rs780657518       rs780850103       rs781031234       rs781031454       rs781117334       rs781140431       rs781222137       rs781228430       rs781344834      

基因表达

基因表达

ACY1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
GTCAGAAAGTAGAGGTGGC
58
AGATGGAGGAGAGTGTAGG
57
TGGGCTGTCAGAAAGTAGAG
59
CCAATGTTCCTTGAAGACAGG
59
TTTATAGTGAGCGGAGTCCC
59
CAACCTTGTGCAGCTTCTC
60
AAAGTAGAGACCACCTACCCT
60
GGAGAGTGTAGGGTTGGTG
59
TTTGTGCCTGATGAGGAGG
60
TCAGTGGGATTGGCTATGC
60
GTCTTCAAGGAACATTGGAGTC
59
TCATGTGGATGGTTCTGGG
59
AAGGATATGAACCTCACTCTGG
59
GGTGAGAAGCCTAGAGCTG
60
AAGGATATGAACCTCACTCTGG
59
GTGAGAAGCCTAGAGCTGG
60
TATGGCACCAACCCTACAC
59
GACTCCAATGTTCCTTGAAGAC
59
TATGGCACCAACCCTACAC
59
TTCCAGGTACTGGATGCTG
59

转录因子

转录因子

      尚未收录相关数据

基因本体信息

ACY1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

ACY1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0004046
C9JYZ0(UniProtKB)
IEA
GO:0005737
C9JYZ0(UniProtKB)
IEA
GO:0006508
C9JYZ0(UniProtKB)
IEA
GO:0006520
C9JYZ0(UniProtKB)
IEA
GO:0008237
C9JYZ0(UniProtKB)
IEA
GO:0004046
F8WC59(UniProtKB)
IEA
GO:0005737
F8WC59(UniProtKB)
IEA
GO:0006508
F8WC59(UniProtKB)
IEA
GO:0006520
F8WC59(UniProtKB)
IEA
GO:0008237
F8WC59(UniProtKB)
IEA
GO:0004046
Q03154(UniProtKB)
TAS
GO:0005515
Q03154(UniProtKB)
IPI
GO:0005829
Q03154(UniProtKB)
TAS
GO:0006508
Q03154(UniProtKB)
IEA
GO:0006520
Q03154(UniProtKB)
IEA
GO:0006805
Q03154(UniProtKB)
TAS
GO:0008237
Q03154(UniProtKB)
IEA
GO:0046872
Q03154(UniProtKB)
IEA
GO:0070062
Q03154(UniProtKB)
IDA
GO:0070062
Q03154(UniProtKB)
IDA
GO:0070062
Q03154(UniProtKB)
IDA
GO:0070062
Q03154(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ACY1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
Aminoacylase 1 deficiency 0.36 2 3 CTD_human_ORPHANET_UNIPROT
Renal Cell Carcinoma 0.120271442 2 0 BeFree_CTD_human
Precancerous Conditions 0.12 1 0 CTD_human
Small cell carcinoma of lung 0.001085767 4 0 BeFree
Inborn Errors of Metabolism 0.000814326 3 0 BeFree
Autistic Disorder 0.000271442 1 0 BeFree
Non-Small Cell Lung Carcinoma 0.000271442 1 0 BeFree
Colonic Neoplasms 0.000271442 1 0 BeFree
Metabolic Diseases 0.000271442 1 0 BeFree
Muscle hypotonia 0.000271442 1 0 BeFree
Neuroblastoma 0.000271442 1 0 BeFree
Retinoblastoma 0.000271442 1 0 BeFree
Syringomyelia 0.000271442 1 0 BeFree
Biotinidase Deficiency 0.000271442 1 0 BeFree
Central neuroblastoma 0.000271442 1 0 BeFree

基因相关文献

基因相关文献

基因相关服务

基因相关服务

基因评论

基因评论

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