BCKDK(branched chain ketoacid dehydrogenase kinase)

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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16p11.2
基因染色体位置图

The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

[中文简述(自动翻译):]  的支链α-酮酸脱氢酶复合物(BCKD)是缬氨酸,亮氨酸和异亮氨酸代谢途径的重要调节器。由该基因编码的蛋白质在线粒体,在那里它磷酸化并失活BCKD被发现。已发现该基因编码不同亚型的几个抄本变形。 [由RefSeq的,2012年12月提供]

BCKDK基因的碱基序列:[NCBI]
BCKDK基因的碱基突变:           显示全部snp
rs14235       rs749767       rs889555       rs1549296       rs1802070       rs2303221       rs4889616       rs11540062       rs12716981       rs12918104       rs12924352       rs28384392       rs34131354       rs55766044       rs55884792       rs55939386       rs58747784       rs71389496       rs72785546       rs72785547       rs72785548       rs73530211       rs74015068       rs76728442       rs76763511       rs77606313       rs111551851       rs113304598       rs114106565       rs116079081       rs117766531       rs117991408       rs118042732       rs138025771       rs138774374       rs138821043       rs139044149      
rs139506978       rs140334552       rs140504669       rs140938972       rs140963691       rs141029558       rs141282419       rs141335706       rs141506795       rs141938310       rs142049116       rs142542453       rs143072272       rs144100726       rs144153917       rs144182219       rs144675159       rs144747578       rs145138361       rs145180240       rs145502914       rs145531231       rs146506343       rs146664083       rs147210405       rs148112682       rs148848087       rs149677094       rs150222563       rs150455286       rs150543633       rs150773521       rs151090898       rs181786552       rs181824137       rs181894154       rs182442686       rs183605757       rs183966429       rs184073387       rs184233148       rs184927873       rs184945542       rs186657989       rs187293364       rs188092823       rs188294590       rs189049718       rs189720089       rs189784222       rs190119280       rs190525515       rs191511774       rs192092689       rs192693925       rs199518137       rs199683653       rs199722503       rs199838222       rs199965337       rs199974683       rs200045337       rs200118163       rs200213677       rs200230790       rs200253972       rs200382141       rs200386821       rs200569721       rs200689545       rs201164597       rs201213741       rs201402458       rs201431301       rs201445468       rs201614853       rs201839495       rs201854058       rs201870679       rs201881945       rs202044903       rs202110382       rs202116337       rs368040635       rs368296120       rs368551386       rs368623088       rs368849582       rs369046982       rs369474829       rs369521689       rs369547482       rs369751792       rs369844109       rs370032941       rs370314400       rs370542238       rs370752018       rs370950849       rs371078966       rs371313435       rs371401647       rs371525409       rs371628815       rs371722478       rs372044087       rs372199017       rs373170334       rs373191639       rs374121679       rs374221958       rs374408251       rs374518693       rs374537749       rs374568685       rs374677650       rs374686157       rs375349533       rs375380019       rs376006216       rs376498393       rs376691315       rs377230501       rs377351118       rs377423130       rs377552512       rs377618397       rs377647655       rs397514573       rs527456982       rs527999176       rs528727102       rs528846952       rs529218478       rs529359630       rs529789927       rs530517103       rs530965915       rs531583088       rs531591891       rs531777598       rs532645244       rs532701317       rs533750360       rs534268506       rs534529619       rs534671893       rs535312603       rs536081313       rs536605659       rs536718810       rs537329766       rs537936918       rs538779399       rs538995367       rs541312517       rs542181909       rs542452572       rs543375050       rs543605473       rs543643875       rs543953584       rs544761068       rs544915417       rs545264727       rs546510364       rs546815456       rs547389816       rs548898561       rs548931505       rs549096975       rs549189288       rs550089917       rs550126439       rs551249657       rs551327487       rs552292003       rs553187946       rs553418699       rs553956491       rs554174460       rs554400700       rs554631884       rs555022055       rs555144798       rs555689068       rs556255123       rs556342982       rs556358652       rs557378137       rs558120140       rs558809354       rs558843870       rs559276804       rs559431458       rs560533000       rs560808629       rs561728909       rs561815533       rs562927698       rs563165514       rs564838932       rs564873541       rs565768136       rs565911171       rs566392331       rs567586559       rs568058471       rs568706761       rs569914362       rs570866039       rs570889400       rs571605687       rs571791270       rs572535454       rs572628932       rs572801869       rs573728679       rs573772344       rs574589732       rs575078725       rs575828222       rs577763753       rs577793499       rs577882917       rs577985544       rs578011961       rs745308051       rs745531188       rs745623913       rs745800138       rs745853182       rs745889690       rs746084130       rs746177286       rs746246063       rs746399839       rs746453488       rs746459006       rs746468438       rs746683923       rs746711561       rs746946363       rs747204815       rs747227092       rs747282203       rs747331450       rs747606320       rs747827915       rs747833411       rs747992653       rs748108797       rs748188451       rs748345434       rs748371469       rs748666025       rs748945951       rs748999240       rs749211768       rs749243097       rs749299758       rs749467687       rs749616236       rs749756059       rs749761316       rs749860122       rs750015325       rs750069562       rs750287305       rs750356032       rs750619171       rs750633583       rs750673703       rs750916023       rs751153971       rs751238597       rs751764506       rs751780870       rs751842287       rs752102857       rs752120800       rs752139664       rs752324023       rs752349598       rs752707478       rs752891319       rs752947416       rs753006924       rs753178162       rs753241199       rs753378449       rs753438536       rs753814671       rs753857407       rs753863234       rs754026672       rs754059958       rs754213472       rs754278207       rs754334031       rs754464146       rs754517816       rs754662664       rs754787544       rs754932276       rs755023150       rs755094399       rs755562719       rs755577638       rs755584594       rs755953122       rs756044552       rs756130651       rs756188908       rs756189742       rs756353382       rs756441659       rs756453432       rs756485571       rs756506358       rs756741732       rs756951861       rs756996187       rs757061262       rs757272693       rs757332822       rs757585255       rs757631135       rs757688773       rs757865336       rs758133599       rs758137216       rs758420729       rs758475834       rs758510551       rs758689348       rs758812308       rs759040301       rs759077469       rs759259508       rs759341581       rs759359385       rs759778061       rs759779446       rs760032015       rs760182220       rs760283230       rs760422765       rs760604265       rs760622934       rs760797698       rs760851100       rs761230648       rs761241643       rs761322791       rs761345355       rs761417171       rs761419965       rs761625158       rs761640047       rs761806585       rs761822362       rs761847817       rs761948865       rs762352413       rs762482788       rs762515151       rs762568662       rs762749721       rs762774063       rs762920594       rs763199028       rs763232837       rs763326014       rs763653927       rs763881412       rs764266445       rs764289146       rs764295756       rs764416605       rs764492853       rs764514534       rs764614335       rs764651763       rs764857104       rs764891045       rs764935168       rs765128280       rs765164352       rs765220841       rs765287044       rs765367733       rs765374974       rs765633763       rs765716370       rs765998546       rs766053594       rs766287700       rs766448019       rs766543783       rs766738427       rs766922526       rs766941920       rs767003668       rs767131632       rs767312567       rs767494235       rs767540350       rs767584077       rs767598142       rs767914921       rs768073750       rs768132109       rs768136995       rs768248141       rs768262297       rs768365083       rs768472775       rs768986355       rs769054677       rs769426659       rs769615565       rs769709880       rs769754259       rs769790766       rs770339307       rs770548118       rs770711315       rs770755720       rs770901905       rs770918327       rs771021107       rs771171406       rs771279207       rs771351907       rs771457546       rs771599293       rs771642292       rs771666142       rs771798261       rs771867141       rs772082845       rs772364078       rs772393410       rs772489972       rs772595672       rs772919261       rs772935236       rs772946254       rs772952138       rs773005683       rs773075265       rs773183825       rs773378545       rs773498072       rs773716638       rs773734655       rs774214869       rs774273559       rs774276125       rs774302251       rs774555802       rs774735276       rs774848215       rs774932677       rs774970087       rs775185560       rs775304293       rs775340971       rs775418426       rs775430762       rs775517661       rs776044468       rs776095748       rs776272210       rs776418633       rs776559829       rs776686374       rs776835457       rs777018162       rs777140946       rs777198302       rs777399329       rs777686530       rs777785417       rs777812892       rs777877602       rs778339396       rs778389231       rs778641290       rs778775154       rs778821974       rs779002304       rs779155692       rs779301595       rs779349318       rs779537233       rs779596120       rs780042752       rs780081318       rs780169198       rs780261448       rs780549207       rs780604144       rs780744605       rs780941167       rs780954407       rs781113968       rs781206617       rs781279805       rs781432488       rs781670286       rs781749593      

BCKDK基因在不同组织中的表达:    [UniProt]

基因在不同组织中的表达图
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
CGATCTGATCATCAGGATCTC
58
GTGAAGTGGTAGTCCATGAC
58
CTTCCCTCCGATCAAGGAC
60
ACATCCTTGTGGTCATCCA
59
CAAGAATGCCATGAGAGCC
59
ATCATTGTTGGCGATGGTG
59
TCCAGTGAGGATTGCTCAC
59
GAAGTCTGTCAGCTTCACG
59
CTTCCAGTGAGGATTGCTC
58
ATATAGCTCATGCACGTGC
58
AAGAATGCCATGAGAGCCA
59
CATCATTGTTGGCGATGGT
59
CAAGAATGCCATGAGGATCTC
59
GTGAAGTGGTAGTCCATGAC
58
TCCAGTGAGGATTGCTCAC
59
AAGTCTGTCAGCTTCACGT
59
CTGAGAAGGATGGGAGCTG
60
CATCGTCTTGCTCCTTTCAG
59
ACTTCCAGTGAGGATTGCT
59
TATAGCTCATGCACGTGCA
60
      尚未收录相关数据

BCKDK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

BCKDK基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0004674
O14874(UniProtKB)
ISS
GO:0005515
O14874(UniProtKB)
IPI
GO:0005515
O14874(UniProtKB)
IPI
GO:0005524
O14874(UniProtKB)
ISS
GO:0005739
O14874(UniProtKB)
IDA
GO:0005739
O14874(UniProtKB)
TAS
GO:0005739
O14874(UniProtKB)
IDA
GO:0005759
O14874(UniProtKB)
TAS
GO:0005947
O14874(UniProtKB)
ISS
GO:0005947
O14874(UniProtKB)
TAS
GO:0006468
O14874(UniProtKB)
IEA
GO:0006468
O14874(UniProtKB)
IEA
GO:0009063
O14874(UniProtKB)
NAS
GO:0009083
O14874(UniProtKB)
ISS
GO:0009083
O14874(UniProtKB)
TAS
GO:0009083
O14874(UniProtKB)
TAS
GO:0016301
O14874(UniProtKB)
TAS
GO:0016310
O14874(UniProtKB)
ISS
GO:0016310
O14874(UniProtKB)
TAS
GO:0047323
O14874(UniProtKB)
TAS
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

可能调控BCKDK基因的相关microRNA:     


通路基因列表
疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
BRANCHED-CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY 0.44 2 2 CLINVAR_MGD_ORPHANET_UNIPROT
Parkinson Disease 0.12 1 1 GWASCAT
Autistic Disorder 0.000271442 1 0 BeFree
Epilepsy 0.000271442 1 0 BeFree
Intellectual Disability 0.000271442 1 0 BeFree
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