Details for: CACNA1D
Associated with
Other Information
Genular Protein ID: 3360881362
Symbol: CAC1D_HUMAN
Name: Voltage-dependent L-type calcium channel subunit alpha-1D
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 1309651
Title: Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype.
PubMed ID: 1309651
PubMed ID: 1309948
Title: Cloning of the alpha 1 subunit of a voltage-dependent calcium channel expressed in pancreatic beta cells.
PubMed ID: 1309948
PubMed ID: 7557998
Title: The structures of the human calcium channel alpha 1 subunit (CACNL1A2) and beta subunit (CACNLB3) genes.
PubMed ID: 7557998
PubMed ID: 18482979
Title: Modulation of voltage- and Ca2+-dependent gating of CaV1.3 L-type calcium channels by alternative splicing of a C-terminal regulatory domain.
PubMed ID: 18482979
PubMed ID: 16641997
Title: The DNA sequence, annotation and analysis of human chromosome 3.
PubMed ID: 16641997
DOI: 10.1038/nature04728
PubMed ID: 9894156
Title: Genomic structure of the regulatory region of the voltage-gated calcium channel alpha 1D.
PubMed ID: 9894156
DOI: 10.1038/emm.1998.36
PubMed ID: 1335101
Title: Molecular diversity of neuronal-type calcium channels identified in small cell lung carcinoma.
PubMed ID: 1335101
PubMed ID: 21280120
Title: Loss of recognition by cross-reactive T cells and its relation to a C-terminus-induced conformational reorientation of an HLA-B*2705-bound peptide.
PubMed ID: 21280120
DOI: 10.1002/pro.559
PubMed ID: 21131953
Title: Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.
PubMed ID: 21131953
DOI: 10.1038/nn.2694
PubMed ID: 22495309
Title: Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
PubMed ID: 22495309
DOI: 10.1038/nature10989
PubMed ID: 22542183
Title: De novo gene disruptions in children on the autistic spectrum.
PubMed ID: 22542183
PubMed ID: 23913001
Title: Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
PubMed ID: 23913001
DOI: 10.1038/ng.2695
PubMed ID: 25620733
Title: CACNA1D de novo mutations in autism spectrum disorders activate Cav1.3 L-type calcium channels.
PubMed ID: 25620733
PubMed ID: 28472301
Title: New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.
PubMed ID: 28472301
DOI: 10.1093/hmg/ddx175
Sequence Information:
- Length: 2161
- Mass: 245141
- Checksum: 31B0ADFCDB30B575
- Sequence:
MMMMMMMKKM QHQRQQQADH ANEANYARGT RLPLSGEGPT SQPNSSKQTV LSWQAAIDAA RQAKAAQTMS TSAPPPVGSL SQRKRQQYAK SKKQGNSSNS RPARALFCLS LNNPIRRACI SIVEWKPFDI FILLAIFANC VALAIYIPFP EDDSNSTNHN LEKVEYAFLI IFTVETFLKI IAYGLLLHPN AYVRNGWNLL DFVIVIVGLF SVILEQLTKE TEGGNHSSGK SGGFDVKALR AFRVLRPLRL VSGVPSLQVV LNSIIKAMVP LLHIALLVLF VIIIYAIIGL ELFIGKMHKT CFFADSDIVA EEDPAPCAFS GNGRQCTANG TECRSGWVGP NGGITNFDNF AFAMLTVFQC ITMEGWTDVL YWMNDAMGFE LPWVYFVSLV IFGSFFVLNL VLGVLSGEFS KEREKAKARG DFQKLREKQQ LEEDLKGYLD WITQAEDIDP ENEEEGGEEG KRNTSMPTSE TESVNTENVS GEGENRGCCG SLCQAISKSK LSRRWRRWNR FNRRRCRAAV KSVTFYWLVI VLVFLNTLTI SSEHYNQPDW LTQIQDIANK VLLALFTCEM LVKMYSLGLQ AYFVSLFNRF DCFVVCGGIT ETILVELEIM SPLGISVFRC VRLLRIFKVT RHWTSLSNLV ASLLNSMKSI ASLLLLLFLF IIIFSLLGMQ LFGGKFNFDE TQTKRSTFDN FPQALLTVFQ ILTGEDWNAV MYDGIMAYGG PSSSGMIVCI YFIILFICGN YILLNVFLAI AVDNLADAES LNTAQKEEAE EKERKKIARK ESLENKKNNK PEVNQIANSD NKVTIDDYRE EDEDKDPYPP CDVPVGEEEE EEEEDEPEVP AGPRPRRISE LNMKEKIAPI PEGSAFFILS KTNPIRVGCH KLINHHIFTN LILVFIMLSS AALAAEDPIR SHSFRNTILG YFDYAFTAIF TVEILLKMTT FGAFLHKGAF CRNYFNLLDM LVVGVSLVSF GIQSSAISVV KILRVLRVLR PLRAINRAKG LKHVVQCVFV AIRTIGNIMI VTTLLQFMFA CIGVQLFKGK FYRCTDEAKS NPEECRGLFI LYKDGDVDSP VVRERIWQNS DFNFDNVLSA MMALFTVSTF EGWPALLYKA IDSNGENIGP IYNHRVEISI FFIIYIIIVA FFMMNIFVGF VIVTFQEQGE KEYKNCELDK NQRQCVEYAL KARPLRRYIP KNPYQYKFWY VVNSSPFEYM MFVLIMLNTL CLAMQHYEQS KMFNDAMDIL NMVFTGVFTV EMVLKVIAFK PKGYFSDAWN TFDSLIVIGS IIDVALSEAD PTESENVPVP TATPGNSEES NRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIAML FFIYAVIGMQ MFGKVAMRDN NQINRNNNFQ TFPQAVLLLF RCATGEAWQE IMLACLPGKL CDPESDYNPG EEYTCGSNFA IVYFISFYML CAFLIINLFV AVIMDNFDYL TRDWSILGPH HLDEFKRIWS EYDPEAKGRI KHLDVVTLLR RIQPPLGFGK LCPHRVACKR LVAMNMPLNS DGTVMFNATL FALVRTALKI KTEGNLEQAN EELRAVIKKI WKKTSMKLLD QVVPPAGDDE VTVGKFYATF LIQDYFRKFK KRKEQGLVGK YPAKNTTIAL QAGLRTLHDI GPEIRRAISC DLQDDEPEET KREEEDDVFK RNGALLGNHV NHVNSDRRDS LQQTNTTHRP LHVQRPSIPP ASDTEKPLFP PAGNSVCHNH HNHNSIGKQV PTSTNANLNN ANMSKAAHGK RPSIGNLEHV SENGHHSSHK HDREPQRRSS VKRTRYYETY IRSDSGDEQL PTICREDPEI HGYFRDPHCL GEQEYFSSEE CYEDDSSPTW SRQNYGYYSR YPGRNIDSER PRGYHHPQGF LEDDDSPVCY DSRRSPRRRL LPPTPASHRR SSFNFECLRR QSSQEEVPSS PIFPHRTALP LHLMQQQIMA VAGLDSSKAQ KYSPSHSTRS WATPPATPPY RDWTPCYTPL IQVEQSEALD QVNGSLPSLH RSSWYTDEPD ISYRTFTPAS LTVPSSFRNK NSDKQRSADS LVEAVLISEG LGRYARDPKF VSATKHEIAD ACDLTIDEME SAASTLLNGN VRPRANGDVG PLSHRQDYEL QDFGPGYSDE EPDPGRDEED LADEMICITT L
Genular Protein ID: 3201312509
Symbol: A0A1B0GUN6_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 16641997
Title: The DNA sequence, annotation and analysis of human chromosome 3.
PubMed ID: 16641997
DOI: 10.1038/nature04728
Sequence Information:
- Length: 2146
- Mass: 243705
- Checksum: FE9180FDE7745CC5
- Sequence:
MMMMMMMKKM QHQRQQQADH ANEANYARGT RLPLSGEGPT SQPNSSKQTV LSWQAAIDAA RQAKAAQTMS TSAPPPVGSL SQRKRQQYAK SKKQGNSSNS RPARALFCLS LNNPIRRACI SIVEWKPFDI FILLAIFANC VALAIYIPFP EDDSNSTNHN LEKVEYAFLI IFTVETFLKI IAYGLLLHPN AYVRNGWNLL DFVIVIVGLF SVILEQLTKE TEGGNHSSGK SGGFDVKALR AFRVLRPLRL VSGVPSLQVV LNSIIKAMVP LLHIALLVLF VIIIYAIIGL ELFIGKMHKT CFFADSDIVA EEDPAPCAFS GNGRQCTANG TECRSGWVGP NGGITNFDNF AFAMLTVFQC ITMEGWTDVL YWVNDAIGWE WPWVYFVSLI ILGSFFVLNL VLGVLSGEFS KEREKAKARG DFQKLREKQQ LEEDLKGYLD WITQAEDIDP ENEEEGGEEG KRNTSMPTSE TESVNTENVS GEGENRGCCG SLCQAISKSK LSRRWRRWNR FNRRRCRAAV KSVTFYWLVI VLVFLNTLTI SSEHYNQPDW LTQIQDIANK VLLALFTCEM LVKMYSLGLQ AYFVSLFNRF DCFVVCGGIT ETILVELEIM SPLGISVFRC VRLLRIFKVT RHWTSLSNLV ASLLNSMKSI ASLLLLLFLF IIIFSLLGMQ LFGGKFNFDE TQTKRSTFDN FPQALLTVFQ ILTGEDWNAV MYDGIMAYGG PSSSGMIVCI YFIILFICGN YILLNVFLAI AVDNLADAES LNTAQKEEAE EKERKKIARK ESLENKKNNK PEVNQIANSD NKVTIDDYRE EDEDKDPYPP CDVPVGEEEE EEEEDEPEVP AGPRPRRISE LNMKEKIAPI PEGSAFFILS KTNPIRVGCH KLINHHIFTN LILVFIMLSS AALAAEDPIR SHSFRNTILG YFDYAFTAIF TVEILLKMTT FGAFLHKGAF CRNYFNLLDM LVVGVSLVSF GIQSSAISVV KILRVLRVLR PLRAINRAKG LKHVVQCVFV AIRTIGNIMI VTTLLQFMFA CIGVQLFKGK FYRCTDEAKS NPEECRGLFI LYKDGDVDSP VVRERIWQNS DFNFDNVLSA MMALFTVSTF EGWPALLYKA IDSNGENIGP IYNHRVEISI FFIIYIIIVA FFMMNIFVGF VIVTFQEQGE KEYKNCELDK NQRQCVEYAL KARPLRRYIP KNPYQYKFWY VVNSSPFEYM MFVLIMLNTL CLAMQHYEQS KMFNDAMDIL NMVFTGVFTV EMVLKVIAFK PKGYFSDAWN TFDSLIVIGS IIDVALSEAD NSEESNRISI TFFRLFRVMR LVKLLSRGEG IRTLLWTFIK SFQALPYVAL LIAMLFFIYA VIGMQMFGKV AMRDNNQINR NNNFQTFPQA VLLLFRCATG EAWQEIMLAC LPGKLCDPES DYNPGEEYTC GSNFAIVYFI SFYMLCAFLI INLFVAVIMD NFDYLTRDWS ILGPHHLDEF KRIWSEYDPE AKGRIKHLDV VTLLRRIQPP LGFGKLCPHR VACKRLVAMN MPLNSDGTVM FNATLFALVR TALKIKTEGN LEQANEELRA VIKKIWKKTS MKLLDQVVPP AGDDEVTVGK FYATFLIQDY FRKFKKRKEQ GLVGKYPAKN TTIALQAGLR TLHDIGPEIR RAISCDLQDD EPEETKREEE DDVFKRNGAL LGNHVNHVNS DRRDSLQQTN TTHRPLHVQR PSIPPASDTE KPLFPPAGNS VCHNHHNHNS IGKQVPTSTN ANLNNANMSK AAHGKRPSIG NLEHVSENGH HSSHKHDREP QRRSSVKRTR YYETYIRSDS GDEQLPTICR EDPEIHGYFR DPHCLGEQEY FSSEECYEDD SSPTWSRQNY GYYSRYPGRN IDSERPRGYH HPQGFLEDDD SPVCYDSRRS PRRRLLPPTP ASHRRSSFNF ECLRRQSSQE EVPSSPIFPH RTALPLHLMQ QQIMAVAGLD SSKAQKYSPS HSTRSWATPP ATPPYRDWTP CYTPLIQVEQ SEALDQVNGS LPSLHRSSWY TDEPDISYRT FTPASLTVPS SFRNKNSDKQ RSADSLVEAV LISEGLGRYA RDPKFVSATK HEIADACDLT IDEMESAAST LLNGNVRPRA NGDVGPLSHR QDYELQDFGP GYSDEEPDPG RDEEDLADEM ICITTL
Genular Protein ID: 3566809199
Symbol: Q59GD8_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 1854
- Mass: 211464
- Checksum: 73DE6B07DF531A39
- Sequence:
ANGTECRSGW VGPNGGITNF DNFAFAMLTV FQCITMEGWT DVLYWMNDAM GFELPWVYFV SLVIFGSFFV LNLVLGVLSG EFSKEREKAK ARGDFQKLRE KQQLEEDLKG YLDWITQAED IDPENEEEGG EEGKRNTSMP TSETESVNTE NVSGEGENRG CCGSLWCWWR RRGAAKAGPS GCRRWGQAIS KSKLSRRWRR WNRFNRRRCR AAVKSVTFYW LVIVLVFLNT LTISSEHYNQ PDWLTQIQDI ANKVLLALFT CEMLVKMYSL GLQAYFVSLF NRFDCFVVCG GITETILVEL EIMSPLGISV FRCVRLLRIF KVTRHWTSLS NLVASLLNSM KSIASLLLLL FLFIIIFSLL GMQLFGGKFN FDETQTKRST FDNFPQALLT VFQILTGEDW NAVMYDGIMA YGGPSSSGMI VCIYFIILFI CGNYILLNVF LAIAVDNLAD AESLNTAQKE EAEEKERKKI ARKESLENKK NNKPEVNQIA NSDNKVTIDD YREEDEDKDP YPPCDVPVGE EEEEEEEDEP EVPAGPRPRR ISELNMKEKI APIPEGSAFF ILSKTNPIRV GCHKLINHHI FTNLILVFIM LSSAALAAED PIRSHSFRNT ILGYFDYAFT AIFTVEILLK MTTFGAFLHK GAFCRNYFNL LDMLVVGVSL VSFGIQSSAI SVVKILRVLR VLRPLRAINR AKGLKHVVQC VFVAIRTIGN IMIVTTLLQF MFACIGVQLF KGKFYRCTDE AKSNPEECRG LFILYKDGDV DSPVVRERIW QNSDFNFDNV LSAMMALFTV STFEGWPALL YKAIDSNGEN IGPIYNHRVE ISIFFIIYII IVAFFMMNIF VGFVIVTFQE QGEKEYKNCE LDKNQRQCVE YALKARPLRR YIPKNPYQYK FWYVVNSSPF EYMMFVLIML NTLCLAMQHY EQSKMFNDAM DILNMVFTGV FTVEMVLKVI AFKPKHYFTD AWNTFDALIV VGSVVDIAIT EVNPTESENV PVPTATPGNS EESNRISITF FRLFRVMRLV KLLSRGEGIR TLLWTFIKSF QALPYVALLI AMLFFIYAVI GMQMFGKVAM RDNNQINRNN NFQTFPQAVL LLFRCATGEA WQEIMLACLP GKLCDPESDY NPGEEYTCGS NFAIVYFISF YMLCAFLIIN LFVAVIMDNF DYLTRDWSIL GPHHLDEFKR IWSEYDPEAK GRIKHLDVVT LLRRIQPPLG FGKLCPHRVA CKRLVAMNMP LNSDGTVMFN ATLFALVRTA LKIKTEGNLE QANEELRAVI KKIWKKTSMK LLDQVVPPAG DDEVTVGKFY ATFLIQDYFR KFKKRKEQGL VGKYPAKNTT IALQAGLRTL HDIGPEIRRA ISCDLQDDEP EETKREEEDD VFKRNGALLG NHVNHVNSDR RDSLQQTNTT HRPLHVQRPS IPPASDTEKP LFPPAGNSVC HNHHNHNSIG KQVPTSTNAN LNNANMSKAA HGKRPSIGNL EHVSENGHHS SHKHDREPQR RSSVKRTRYY ETYIRSDSGD EQLPTICRED PEIHGYFRDP HCLGEQEYFS SEECYEDDSS PTWSRQNYGY YSRYPGRNID SERPRGYHHP QGFLEDDDSP VCYDSRRSPR RRLLPPTPAS HRRSSFNFEC LRRQSSQEEV PSSPIFPHRT ALPLHLMQQQ IMAVAGLDSS KAQKYSPSHS TRSWATPPAT PPYRDWTPCY TPLIQVEQSE ALDQVNGSLP SLHRSSWYTD EPDISYRTFT PASLTVPSSF RNKNSDKQRS ADSLVEAVLI SEGLGRYARD PKFVSATKHE IADACDLTID EMESAASTLL NGNVRPRANG DVGPLSHRQD YELQDFGPGY SDEEPDPGRD EEDLADEMIC ITTL
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.