GALT(galactose-1-phosphate uridylyltransferase)

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

9p13
基因染色体位置图

基因简述

基因简述

Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

[中文简述(自动翻译):]  半乳糖-1-磷酸尿苷酰转移酶（GALT）催化半乳糖代谢，UDP-葡萄糖+半乳糖-1-磷酸的即转化为葡萄糖-1-磷酸+ UDP-半乳糖的leloir途径的第二个步骤。缺乏这种酶会导致经典半乳糖血症在人类和如果乳糖不从饮食中删除可以在新生儿期死亡。半乳糖血症的病理生理机制还没有明确的规定。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的，2012年4月提供]

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

基因序列

基因序列

GALT基因的碱基序列：[NCBI]

基因突变

基因突变

GALT基因的碱基突变：           显示全部snp
rs1007618       rs1055607       rs1133894       rs1800461       rs2070074       rs2070075       rs2277202       rs2812345       rs3758343       rs3758344       rs3824553       rs9408251       rs12000481       rs12375554       rs12551313       rs41274865       rs41274867       rs56121779       rs61735982       rs61735983       rs61735984       rs62557482       rs73501024       rs75391579       rs75958979       rs76238444       rs77191781       rs78103913       rs78856964       rs111033656       rs111033661       rs111033663       rs111033665       rs111033667       rs111033668       rs111033669       rs111033670      
rs111033694       rs111033695       rs111033697       rs111033707       rs111033712       rs111033715       rs111033722       rs111033725       rs111033728       rs111033732       rs111033733       rs111033735       rs111033736       rs111033737       rs111033739       rs111033740       rs111033744       rs111033750       rs111033752       rs111033755       rs111033761       rs111033764       rs111033766       rs111033773       rs111033776       rs111033778       rs111033792       rs111033794       rs111033795       rs111033800       rs111033802       rs111033803       rs111033808       rs111033809       rs111033810       rs111033811       rs111033818       rs111033819       rs111033831       rs111033837       rs111033840       rs111033844       rs111033847       rs111258262       rs112265276       rs113091191       rs114539202       rs115527942       rs115812481       rs115985083       rs116479817       rs116685974       rs117197951       rs117998880       rs118143762       rs139056441       rs139122460       rs139505821       rs140206894       rs140486988       rs141232328       rs141498518       rs142316401       rs142496102       rs143994870       rs144505931       rs144993986       rs145628307       rs146622986       rs147697991       rs147803976       rs148325137       rs148967210       rs151309174       rs181672552       rs182321535       rs182323290       rs182402144       rs183251779       rs184214383       rs185682715       rs185963224       rs186935775       rs187392064       rs187815245       rs188599777       rs188620037       rs189334654       rs190135126       rs190383425       rs190620506       rs192051463       rs192124591       rs193145261       rs193922249       rs199572263       rs199816879       rs199904843       rs200439493       rs200795687       rs200821644       rs201156392       rs201330799       rs201332367       rs367543254       rs367543256       rs367543261       rs367543266       rs367543271       rs367973697       rs368143059       rs368166217       rs368244179       rs369090791       rs369227288       rs369271852       rs369529357       rs369739316       rs370031642       rs370285476       rs370519894       rs370949694       rs371258192       rs371470838       rs372134800       rs372834460       rs373048062       rs373165440       rs373173308       rs373302496       rs373627599       rs373746564       rs373753247       rs373852153       rs373975891       rs374014228       rs374088670       rs375199940       rs375512552       rs375841641       rs376026879       rs377589017       rs377763822       rs398123185       rs398123186       rs527868208       rs528264869       rs528320335       rs528611125       rs529173170       rs530024257       rs530987774       rs531190564       rs532051468       rs532126218       rs534388915       rs535701318       rs536244344       rs536636813       rs538178324       rs538993858       rs540371782       rs543306553       rs544132713       rs544289719       rs544666695       rs545007743       rs545549284       rs545621674       rs545795946       rs547531294       rs548782829       rs549043849       rs552820931       rs553686923       rs553769637       rs553971100       rs554104080       rs556543720       rs556696323       rs556866599       rs557127419       rs557858289       rs558909078       rs559067704       rs559944565       rs560226250       rs561030057       rs561155270       rs561302370       rs562308216       rs562529233       rs563820225       rs565224665       rs565512396       rs565574457       rs567181626       rs569393869       rs569855768       rs569929119       rs570370706       rs570551258       rs573516675       rs574155491       rs574258333       rs575395149       rs575666061       rs727503947       rs745373322       rs745457495       rs745866556       rs746020502       rs746119139       rs746285782       rs746779221       rs747046943       rs747136664       rs747348115       rs747476715       rs747516747       rs747785041       rs747870898       rs748028316       rs748116276       rs748236036       rs748329705       rs748639317       rs748732979       rs748903895       rs749014067       rs749047676       rs749283916       rs749285914       rs749374402       rs749823588       rs749869608       rs750212896       rs750226076       rs750300963       rs750391010       rs750603435       rs750690794       rs750693939       rs750827434       rs751084584       rs751174705       rs751351126       rs751444719       rs751740223       rs752065555       rs752252085       rs752343674       rs752601620       rs753052473       rs753054748       rs753364304       rs753450355       rs753548840       rs753633826       rs753832879       rs753958275       rs754054744       rs754140417       rs754390906       rs754479698       rs754651106       rs754653590       rs754928397       rs755000603       rs755110245       rs755200200       rs755275031       rs755362996       rs755776140       rs755820364       rs755906612       rs755961073       rs756093267       rs756267534       rs756291248       rs756379314       rs756424435       rs756537066       rs756647683       rs757138698       rs757304903       rs757314660       rs757538747       rs757545379       rs757569550       rs757632977       rs757809358       rs758355502       rs758425482       rs758430398       rs758706590       rs759036942       rs759270191       rs759417724       rs759537248       rs759752899       rs759862798       rs759875751       rs759969803       rs760012040       rs760101824       rs760101884       rs760189807       rs760523177       rs760643278       rs761133762       rs761201760       rs761299923       rs761685630       rs761802494       rs762136953       rs762189546       rs762329852       rs762421661       rs762467883       rs762558133       rs762830730       rs762866149       rs763110714       rs763134785       rs763232067       rs763389740       rs763403230       rs763476236       rs763716969       rs763835338       rs764006034       rs764097984       rs764103663       rs764236755       rs764584693       rs764877943       rs764881678       rs765318548       rs765536669       rs765554862       rs765630722       rs765718724       rs765932955       rs766742012       rs766778777       rs766869282       rs766896883       rs767099109       rs767337193       rs767424954       rs767517167       rs767859611       rs767903479       rs767947929       rs768078864       rs768154316       rs768193331       rs768496925       rs768680705       rs768748399       rs768858721       rs768894080       rs769294519       rs769326923       rs769647583       rs769923400       rs770153373       rs770349232       rs770451714       rs770462098       rs770770917       rs770860861       rs771008280       rs771077982       rs771530512       rs771618527       rs771702963       rs771840709       rs771930483       rs771975129       rs772835481       rs772918156       rs772962418       rs773683290       rs773688685       rs773766027       rs773991940       rs774080916       rs774306500       rs774350978       rs774354617       rs774394717       rs774933597       rs775317639       rs775405684       rs775491160       rs775495837       rs775583231       rs775762045       rs775789069       rs775960045       rs776007807       rs776194301       rs776345015       rs777023967       rs777111898       rs777205877       rs777382338       rs777562713       rs777577533       rs777929860       rs777981871       rs778162177       rs778429269       rs778515263       rs778835377       rs779003828       rs779020361       rs779091710       rs779492469       rs779586179       rs779958843       rs780064274       rs780156428       rs780230448       rs780234692       rs780410032       rs780621729       rs780838954       rs780926830       rs781016489       rs781087115       rs781265636       rs781347467       rs781374930       rs781377278      

基因表达

基因表达

GALT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
ACTCAGGAAGGAACGTCTG
59
TTGGGAGACTGACCATCAC
59
GAGCGTGATGATCTAGCCT
59
GGAGTAGGGAAAGGACGTC
59
TCCTTAGGAAGCTTTCGTCC
60
TATGCTGATGGTAGGCCTG
59
CAGTGGAACCGATCCTCAG
60
ATATGCTGATGGTCGTTTGC
59
CTTAGGAAGCTTTCGTCCC
58
GATATGCTGATGGTAGGCC
58
CTCAACCCTCTGTGTCCTG
60
ACATGACCTTACAGACTCCTC
59
CAGCTTCTGAAGACAGTGC
59
CGACAAGGATAGGCTCTCC
59
TCTCAACCCTCTGTGTCCT
59
GATGATCACTGGGTCCTGG
59
GAGCCAACGGAGAGTAAGG
60
CAGCTCCTCTGTGACTGAG
60
TAAGGTCATGTGCTTCCAC
58
ATAGGGATACGGAGCTCTG
58

转录因子

转录因子

      尚未收录相关数据

基因本体信息

GALT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

GALT基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0006012
F2Z2X9(UniProtKB)
IEA
GO:0008108
F2Z2X9(UniProtKB)
IEA
GO:0008270
F2Z2X9(UniProtKB)
IEA
GO:0006012
G3V223(UniProtKB)
IEA
GO:0008108
G3V223(UniProtKB)
IEA
GO:0008270
G3V223(UniProtKB)
IEA
GO:0006012
G3V3U5(UniProtKB)
IEA
GO:0008108
G3V3U5(UniProtKB)
IEA
GO:0008270
G3V3U5(UniProtKB)
IEA
GO:0006012
H0YJL3(UniProtKB)
IEA
GO:0008108
H0YJL3(UniProtKB)
IEA
GO:0008270
H0YJL3(UniProtKB)
IEA
GO:0005515
P07902(UniProtKB)
IPI
GO:0005794
P07902(UniProtKB)
IDA
GO:0005829
P07902(UniProtKB)
TAS
GO:0006012
P07902(UniProtKB)
TAS
GO:0006258
P07902(UniProtKB)
IEA
GO:0008108
P07902(UniProtKB)
EXP
GO:0008270
P07902(UniProtKB)
IEA
GO:0019388
P07902(UniProtKB)
TAS

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GALT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
Classical galactosemia 0.375200745 70 220 BeFree_CLINVAR_ORPHANET_UNIPROT
Galactosemias 0.153061165 50 4 BeFree_CTD_human_GAD_LHGDN
Classical galactosemia, homozygous Duarte-type 0.12 0 1 CLINVAR
Endometriosis 0.009001189 9 1 BeFree_GAD
Ovarian Failure, Premature 0.005905708 3 0 BeFree_GAD_LHGDN
Malignant neoplasm of ovary 0.003995683 7 1 BeFree_GAD
Presenile cataract 0.003181358 3 3 BeFree_GAD
Cataract 0.002909916 2 0 BeFree_GAD
ovarian neoplasm 0.00272435 1 0 LHGDN
Diabetes Mellitus 0.002367032 1 0 GAD
Hyperphenylalaninaemia 0.002367032 1 0 GAD
Ovarian Carcinoma 0.001628651 6 1 BeFree
HIV Infections 0.001085767 4 0 BeFree
Premature Menopause 0.000814326 3 0 BeFree
Metabolic Diseases 0.000814326 3 0 BeFree
Epithelial ovarian cancer 0.000814326 3 0 BeFree
Inborn Errors of Metabolism 0.000542884 2 0 BeFree
Trisomy 0.000542884 2 0 BeFree
Rokitansky Kuster Hauser syndrome 0.000542884 2 1 BeFree
Candidiasis 0.000271442 1 0 BeFree
Exanthema 0.000271442 1 0 BeFree
Inflammatory Bowel Diseases 0.000271442 1 0 BeFree
Mild Mental Retardation 0.000271442 1 0 BeFree
Muscle hypotonia 0.000271442 1 0 BeFree
Disorder of endocrine ovary 0.000271442 1 0 BeFree
Malnutrition 0.000271442 1 1 BeFree
Escherichia coli septicemia 0.000271442 1 0 BeFree
Bilateral cataracts (disorder) 0.000271442 1 0 BeFree
Apraxia, Developmental Verbal 0.000271442 1 1 BeFree
Spots on skin 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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