Details for: KCNT1
Associated with
Other Information
Genular Protein ID: 1466286584
Symbol: KCNT1_HUMAN
Name: Potassium channel subfamily T member 1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15164053
Title: DNA sequence and analysis of human chromosome 9.
PubMed ID: 15164053
DOI: 10.1038/nature02465
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 10718198
Title: Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.
PubMed ID: 10718198
PubMed ID: 20512134
Title: Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack.
PubMed ID: 20512134
DOI: 10.1038/nn.2563
PubMed ID: 23086396
Title: Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.
PubMed ID: 23086396
DOI: 10.1038/ng.2440
PubMed ID: 23086397
Title: De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
PubMed ID: 23086397
DOI: 10.1038/ng.2441
PubMed ID: 24029078
Title: A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.
PubMed ID: 24029078
PubMed ID: 23708187
Title: Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
PubMed ID: 23708187
DOI: 10.1038/ng.2646
PubMed ID: 24463883
Title: Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
PubMed ID: 24463883
DOI: 10.1093/hmg/ddu030
PubMed ID: 26993267
Title: Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
PubMed ID: 26993267
PubMed ID: 27864847
Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.
PubMed ID: 27864847
DOI: 10.1002/humu.23149
Sequence Information:
- Length: 1230
- Mass: 138343
- Checksum: 482D70015434493E
- Sequence:
MARAKLPRSP SEGKAGPGGA PAGAAAPEEP HGLSPLLPAR GGGSVGSDVG QRLPVEDFSL DSSLSQVQVE FYVNENTFKE RLKLFFIKNQ RSSLRIRLFN FSLKLLTCLL YIVRVLLDDP ALGIGCWGCP KQNYSFNDSS SEINWAPILW VERKMTLWAI QVIVAIISFL ETMLLIYLSY KGNIWEQIFR VSFVLEMINT LPFIITIFWP PLRNLFIPVF LNCWLAKHAL ENMINDFHRA ILRTQSAMFN QVLILFCTLL CLVFTGTCGI QHLERAGENL SLLTSFYFCI VTFSTVGYGD VTPKIWPSQL LVVIMICVAL VVLPLQFEEL VYLWMERQKS GGNYSRHRAQ TEKHVVLCVS SLKIDLLMDF LNEFYAHPRL QDYYVVILCP TEMDVQVRRV LQIPLWSQRV IYLQGSALKD QDLMRAKMDN GEACFILSSR NEVDRTAADH QTILRAWAVK DFAPNCPLYV QILKPENKFH VKFADHVVCE EECKYAMLAL NCICPATSTL ITLLVHTSRG QEGQESPEQW QRMYGRCSGN EVYHIRMGDS KFFREYEGKS FTYAAFHAHK KYGVCLIGLK REDNKSILLN PGPRHILAAS DTCFYINITK EENSAFIFKQ EEKRKKRAFS GQGLHEGPAR LPVHSIIASM GTVAMDLQGT EHRPTQSGGG GGGSKLALPT ENGSGSRRPS IAPVLELADS SALLPCDLLS DQSEDEVTPS DDEGLSVVEY VKGYPPNSPY IGSSPTLCHL LPVKAPFCCL RLDKGCKHNS YEDAKAYGFK NKLIIVSAET AGNGLYNFIV PLRAYYRSRK ELNPIVLLLD NKPDHHFLEA ICCFPMVYYM EGSVDNLDSL LQCGIIYADN LVVVDKESTM SAEEDYMADA KTIVNVQTMF RLFPSLSITT ELTHPSNMRF MQFRAKDSYS LALSKLEKRE RENGSNLAFM FRLPFAAGRV FSISMLDTLL YQSFVKDYMI TITRLLLGLD TTPGSGYLCA MKITEGDLWI RTYGRLFQKL CSSSAEIPIG IYRTESHVFS TSESQISVNV EDCEDTREVK GPWGSRAGTG GSSQGRHTGG GDPAEHPLLR RKSLQWARRL SRKAPKQAGR AAAAEWISQQ RLSLYRRSER QELSELVKNR MKHLGLPTTG YEDVANLTAS DVMNRVNLGY LQDEMNDHQN TLSYVLINPP PDTRLEPSDI VYLIRSDPLA HVASSSQSRK SSCSHKLSSC NPETRDETQL
Genular Protein ID: 2969635773
Symbol: A0A6Q8PGM3_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15164053
Title: DNA sequence and analysis of human chromosome 9.
PubMed ID: 15164053
DOI: 10.1038/nature02465
Sequence Information:
- Length: 1175
- Mass: 133179
- Checksum: 555E5E75D0719C39
- Sequence:
MVQVEFYVNE NTFKERLKLF FIKNQRSSLR IRLFNFSLKL LTCLLYIVRV LLDDPALGIG CWGCPKQNYS FNDSSSEINW APILWVERKM TLWAIQVIVA IISFLETMLL IYLSYKGNIW EQIFRVSFVL EMINTLPFII TIFWPPLRNL FIPVFLNCWL AKHALENMIN DFHRAILRTQ SAMFNQVLIL FCTLLCLVFT GGCRTCGIQH LERAGENLSL LTSFYFCIVT FSTVGYGDVT PKIWPSQLLV VIMICVALVV LPLQFEELVY LWMERQKSGG NYSRHRAQTE KHVVLCVSSL KIDLLMDFLN EFYAHPRLQD YYVVILCPTE MDVQVRRVLQ IPLWSQRVIY LQGSALKDQD LMRAKMDNGE ACFILSSRNE VDRTAADHQT ILRAWAVKDF APNCPLYVQI LKPENKFHVK FADHVVCEEE CKYAMLALNC ICPATSTLIT LLVHTSRGQE GQESPEQWQR MYGRCSGNEV YHIRMGDSKF FREYEGKSFT YAAFHAHKKY GVCLIGLKRE DNKSILLNPG PRHILAASDT CFYINITKEE NSAFIFKQEE KRKKRAFSGQ GLHEGPARLP VHSIIASMGT VAMDLQGTEH RPTQSGGGGG GSKLALPTEN GSGSRRPSIA PVLELADSSA LLPCDLLSDQ SEDEVTPSDD EGLSVVEYVK GYPPNSPYIG SSPTLCHLLP VKAPFCCLRL DKGCKHNSYE DAKAYGFKNK LIIVSAETAG NGLYNFIVPL RAYYRSRKEL NPIVLLLDNK PDHHFLEAIC CFPMVYYMEG SVDNLDSLLQ CGIIYADNLV VVDKESTMSA EEDYMADAKT IVNVQTMFRL FPSLSITTEL THPSNMRFMQ FRAKDSYSLA LSKLEKRERE NGSNLAFMFR LPFAAGRVFS ISMLDTLLYQ SFVKDYMITI TRLLLGLDTT PGSGYLCAMK ITEGDLWIRT YGRLFQKLCS SSAEIPIGIY RTESHVFSTS EPHDLRAQSQ ISVNVEDCED TREVKGPWGS RAGTGGSSQG RHTGGGDPAE HPLLRRKSLQ WARRLSRKAP KQAGRAAAAE WISQQRLSLY RRSERQELSE LVKNRMKHLG LPTTGYEDVA NLTASDVMNR VNLGYLQDEM NDHQNTLSYV LINPPPDTRL EPSDIVYLIR SDPLAHVASS SQSRKSSCSH KLSSCNPETR DETQL
Genular Protein ID: 2001134943
Symbol: A0A0R4J2E0_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15164053
Title: DNA sequence and analysis of human chromosome 9.
PubMed ID: 15164053
DOI: 10.1038/nature02465
Sequence Information:
- Length: 1223
- Mass: 137642
- Checksum: 5EB42423861D9298
- Sequence:
MARAKLPRSP SEGKAGPGGA PAGAAAPEEP HGLSPLLPAR GGGSVGSDVG QRVQVEFYVN ENTFKERLKL FFIKNQRSSL RIRLFNFSLK LLTCLLYIVR VLLDDPALGI GCWGCPKQNY SFNDSSSEIN WAPILWVERK MTLWAIQVIV AIISFLETML LIYLSYKGNI WEQIFRVSFV LEMINTLPFI ITIFWPPLRN LFIPVFLNCW LAKHALENMI NDFHRAILRT QSAMFNQVLI LFCTLLCLVF TGTCGIQHLE RAGENLSLLT SFYFCIVTFS TVGYGDVTPK IWPSQLLVVI MICVALVVLP LQFEELVYLW MERQKSGGNY SRHRAQTEKH VVLCVSSLKI DLLMDFLNEF YAHPRLQDYY VVILCPTEMD VQVRRVLQIP LWSQRVIYLQ GSALKDQDLM RAKMDNGEAC FILSSRNEVD RTAADHQTIL RAWAVKDFAP NCPLYVQILK PENKFHVKFA DHVVCEEECK YAMLALNCIC PATSTLITLL VHTSRGQEGQ ESPEQWQRMY GRCSGNEVYH IRMGDSKFFR EYEGKSFTYA AFHAHKKYGV CLIGLKREDN KSILLNPGPR HILAASDTCF YINITKEENS AFIFKQEEKR KKRAFSGQGL HEGPARLPVH SIIASMGTVA MDLQGTEHRP TQSGGGGGGS KLALPTENGS GSRRPSIAPV LELADSSALL PCDLLSDQSE DEVTPSDDEG LSVVEYVKGY PPNSPYIGSS PTLCHLLPVK APFCCLRLDK GCKHNSYEDA KAYGFKNKLI IVSAETAGNG LYNFIVPLRA YYRSRKELNP IVLLLDNKPD HHFLEAICCF PMVYYMEGSV DNLDSLLQCG IIYADNLVVV DKESTMSAEE DYMADAKTIV NVQTMFRLFP SLSITTELTH PSNMRFMQFR AKDSYSLALS KLEKRERENG SNLAFMFRLP FAAGRVFSIS MLDTLLYQSF VKDYMITITR LLLGLDTTPG SGYLCAMKIT EGDLWIRTYG RLFQKLCSSS AEIPIGIYRT ESHVFSTSEP HDLRAQSQIS VNVEDCEDTR EVKGPWGSRA GTGGSSQGRH TGGGDPAEHP LLRRKSLQWA RRLSRKAPKQ AGRAAAAEWI SQQRLSLYRR SERQELSELV KNRMKHLGLP TTGYEDVANL TASDVMNRVN LGYLQDEMND HQNTLSYVLI NPPPDTRLEP SDIVYLIRSD PLAHVASSSQ SRKSSCSHKL SSCNPETRDE TQL
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.