Details for: CACNA1E
Associated with
Other Information
Genular Protein ID: 1597205708
Symbol: CAC1E_HUMAN
Name: Voltage-dependent R-type calcium channel subunit alpha-1E
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 7536609
Title: Molecular analysis and functional expression of the human type E neuronal Ca2+ channel alpha 1 subunit.
PubMed ID: 7536609
PubMed ID: 8071363
Title: Structure and functional characterization of neuronal alpha 1E calcium channel subtypes.
PubMed ID: 8071363
PubMed ID: 16710414
Title: The DNA sequence and biological annotation of human chromosome 1.
PubMed ID: 16710414
DOI: 10.1038/nature04727
PubMed ID: 15258581
Title: Mutations in EFHC1 cause juvenile myoclonic epilepsy.
PubMed ID: 15258581
DOI: 10.1038/ng1393
PubMed ID: 30343943
Title: De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias.
PubMed ID: 30343943
PubMed ID: 18400181
Title: Crystal structure of the CaV2 IQ domain in complex with Ca2+/calmodulin: high-resolution mechanistic implications for channel regulation by Ca2+.
PubMed ID: 18400181
Sequence Information:
- Length: 2313
- Mass: 261731
- Checksum: CCC7F309C27C42F1
- Sequence:
MARFGEAVVA RPGSGDGDSD QSRNRQGTPV PASGQAAAYK QTKAQRARTM ALYNPIPVRQ NCFTVNRSLF IFGEDNIVRK YAKKLIDWPP FEYMILATII ANCIVLALEQ HLPEDDKTPM SRRLEKTEPY FIGIFCFEAG IKIVALGFIF HKGSYLRNGW NVMDFIVVLS GILATAGTHF NTHVDLRTLR AVRVLRPLKL VSGIPSLQIV LKSIMKAMVP LLQIGLLLFF AILMFAIIGL EFYSGKLHRA CFMNNSGILE GFDPPHPCGV QGCPAGYECK DWIGPNDGIT QFDNILFAVL TVFQCITMEG WTTVLYNTND ALGATWNWLY FIPLIIIGSF FVLNLVLGVL SGEFAKERER VENRRAFMKL RRQQQIEREL NGYRAWIDKA EEVMLAEENK NAGTSALEVL RRATIKRSRT EAMTRDSSDE HCVDISSVGT PLARASIKSA KVDGVSYFRH KERLLRISIR HMVKSQVFYW IVLSLVALNT ACVAIVHHNQ PQWLTHLLYY AEFLFLGLFL LEMSLKMYGM GPRLYFHSSF NCFDFGVTVG SIFEVVWAIF RPGTSFGISV LRALRLLRIF KITKYWASLR NLVVSLMSSM KSIISLLFLL FLFIVVFALL GMQLFGGRFN FNDGTPSANF DTFPAAIMTV FQILTGEDWN EVMYNGIRSQ GGVSSGMWSA IYFIVLTLFG NYTLLNVFLA IAVDNLANAQ ELTKDEQEEE EAFNQKHALQ KAKEVSPMSA PNMPSIERDR RRRHHMSMWE PRSSHLRERR RRHHMSVWEQ RTSQLRKHMQ MSSQEALNRE EAPTMNPLNP LNPLSSLNPL NAHPSLYRRP RAIEGLALGL ALEKFEEERI SRGGSLKGDG GDRSSALDNQ RTPLSLGQRE PPWLARPCHG NCDPTQQEAG GGEAVVTFED RARHRQSQRR SRHRRVRTEG KESSSASRSR SASQERSLDE AMPTEGEKDH ELRGNHGAKE PTIQEERAQD LRRTNSLMVS RGSGLAGGLD EADTPLVLPH PELEVGKHVV LTEQEPEGSS EQALLGNVQL DMGRVISQSE PDLSCITANT DKATTESTSV TVAIPDVDPL VDSTVVHISN KTDGEASPLK EAEIREDEEE VEKKKQKKEK RETGKAMVPH SSMFIFSTTN PIRRACHYIV NLRYFEMCIL LVIAASSIAL AAEDPVLTNS ERNKVLRYFD YVFTGVFTFE MVIKMIDQGL ILQDGSYFRD LWNILDFVVV VGALVAFALA NALGTNKGRD IKTIKSLRVL RVLRPLKTIK RLPKLKAVFD CVVTSLKNVF NILIVYKLFM FIFAVIAVQL FKGKFFYCTD SSKDTEKECI GNYVDHEKNK MEVKGREWKR HEFHYDNIIW ALLTLFTVST GEGWPQVLQH SVDVTEEDRG PSRSNRMEMS IFYVVYFVVF PFFFVNIFVA LIIITFQEQG DKMMEECSLE KNERACIDFA ISAKPLTRYM PQNRHTFQYR VWHFVVSPSF EYTIMAMIAL NTVVLMMKYY SAPCTYELAL KYLNIAFTMV FSLECVLKVI AFGFLNYFRD TWNIFDFITV IGSITEIILT DSKLVNTSGF NMSFLKLFRA ARLIKLLRQG YTIRILLWTF VQSFKALPYV CLLIAMLFFI YAIIGMQVFG NIKLDEESHI NRHNNFRSFF GSLMLLFRSA TGEAWQEIML SCLGEKGCEP DTTAPSGQNE NERCGTDLAY VYFVSFIFFC SFLMLNLFVA VIMDNFEYLT RDSSILGPHH LDEFVRVWAE YDRAACGRIH YTEMYEMLTL MSPPLGLGKR CPSKVAYKRL VLMNMPVAED MTVHFTSTLM ALIRTALDIK IAKGGADRQQ LDSELQKETL AIWPHLSQKM LDLLVPMPKA SDLTVGKIYA AMMIMDYYKQ SKVKKQRQQL EEQKNAPMFQ RMEPSSLPQE IIANAKALPY LQQDPVSGLS GRSGYPSMSP LSPQDIFQLA CMDPADDGQF QERQSLEPEV SELKSVQPSN HGIYLPSDTQ EHAGSGRASS MPRLTVDPQV VTDPSSMRRS FSTIRDKRSN SSWLEEFSME RSSENTYKSR RRSYHSSLRL SAHRLNSDSG HKSDTHRSGG RERGRSKERK HLLSPDVSRC NSEERGTQAD WESPERRQSR SPSEGRSQTP NRQGTGSLSE SSIPSVSDTS TPRRSRRQLP PVPPKPRPLL SYSSLIRHAG SISPPADGSE EGSPLTSQAL ESNNACLTES SNSPHPQQSQ HASPQRYISE PYLALHEDSH ASDCGEEETL TFEAAVATSL GRSNTIGSAP PLRHSWQMPN GHYRRRRRGG PGPGMMCGAV NNLLSDTEED DKC
Genular Protein ID: 2342004387
Symbol: Q59FG1_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 1869
- Mass: 211937
- Checksum: 22262D31FB729EA0
- Sequence:
AGTSALEVLR RATIKRSRTE AMTRDSSDEH CVDISSVGTP LARASIKSAK VDGVSYFRHK ERLLRISIRH MVKSQVFYWI VLSLVALNTA CVAIVHHNQP QWLTHLLYYA EFLFLGLFLL EMSLKMYGMG PRLYFHSSFN CFDFGVTVGS IFEVVWAIFR PGTSFGISVL RALRLLRIFK ITKYWASLRN LVVSLMSSMK SIISLLFLLF LFIVVFALLG MQLFGGRFNF NDGTPSANFD TFPAAIMTVF QILTGEDWNE VMYNGIRSQG GVSSGMWSAI YFIVLTLFGN YTLLNVFLAI AVDNLANAQE LTKDEQEEEE AFNQKHALQK AKEVSPMSAP NMPSIERDRR RRHHMSMWEP RSSHLRERRR RHHMSVWEQR TSQLRKHMQM SSQEALNREE APTMNPLNPL NPLSSLNPLN AHPSLYRRPR AIEGLALGLA LEKFEEERIS RGGSLKGDGG DRSSALDNQR TPLSLGQREP PWLARPCHGN CDPTQQEAGG GEAVVTFEDR ARHRQSQRRS RHRRVRTEGK ESSSASRSRS ASQERSLDEA MPTEGEKDHE LRGNHGAKEP TIQEERAQDL RRTNSLMVSR GSGLAGGLDE ADTPLVLPHP ELEVGKHVVL TEQEPEGSSE QALLGNVQLD MGRVISQSEP DLSCITANTD KATTESTSVT VAIPDVDPLV DSTVVHISNK TDGEASPLKE AEIREDEEEV EKKKQKKEKR ETGKAMVPHS SMFIFSTTNP IRRACHYIVN LRYFEMCILL VIAASSIALA AEDPVLTNSE RNKVLRYFDY VFTGVFTFEM VIKMIDQGLI LQDGSYFRDL WNILDFVVVV GALVAFALAN ALGTNKGRDI KTIKSLRVLR VLRPLKTIKR LPKLKAVFDC VVTSLKNVFN ILIVYKLFMF IFAVIAVQLF KGKFFYCTDS SKDTEKECIG NYVDHEKNKM EVKGREWKRH EFHYDNIIWA LLTLFTVSTG EGWPQVLQHS VDVTEEDRGP SRSNRMEMSI FYVVYFVVFP FFFVNIFVAL IIITFQEQGD KMMEECSLEK NERACIDFAI SAKPLTRYMP QNRHTFQYRV WHFVVSPSFE YTIMAMIALN TVVLMMKYYS APCTYELALK YLNIAFTMVF SLECVLKVIA FGFLNYFRDT WNIFDFITVI GSITEIILTD SKLVNTSGFN MSFLKLFRAA RLIKLLRQGY TIRILLWTFV QSFKALPYVC LLIAMLFFIY AIIGMQVFGN IKLDEESHIN RHNNFRSFFG SLMLLFRSAT GEAWQEIMLS CLGEKGCEPD TTAPSGQNEN ERCGTDLAYV YFVSFIFFCS FLMLNLFVAV IMDNFEYLTR DSSILGPHHL DEFVRVWAEY DRAACGRIHY TEMYEMLTLM SPPLGLGKRC PSKVAYKRLV LMNMPVAEDM TVHFTSTLMA LIRTALDIKI AKGGADRQQL DSELQKETLA IWPHLSQKML DLLVPMPKAS DLTVGKIYAA MMIMDYYKQS KVKKQRQQLE EQKNAPMFQR MEPSSLPQEI IANAKALPYL QQDPVSGLSG RSGYPSMSPL SPQDIFQLAC MDPTDDGQFQ ERQSLVVTDP SSMRRSFSTI RDKRSNSSWL EEFSMERSSE NTYKSRRRSY HSSLRLSAHR LNSDSGHKSD THRSGGRERG RSKERKHLLS PDVSRCNSEE RGTQADWESP ERRQSRSPSE GRSQTPNRQG TGSLSESSIP SVSDTSTPRR SRRQLPPVPP KPRPLLSYSS LIRHAGSISP PADGSEEGSP LTSQALESNN ACLTESSNSP HPQQSQHASP QRYISEPYLA LHEDSHASDC GEEETLTFEA AVATSLGRSN TIGSAPPLRH SWQMPNGHYR RRRRGGPGPG MMCGAVNNLL SDTEEDDKC
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.