Details for: CACNA1B
Associated with
Other Information
Genular Protein ID: 3918820872
Symbol: CAC1B_HUMAN
Name: Voltage-dependent N-type calcium channel subunit alpha-1B
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 1321501
Title: Structure and functional expression of an omega-conotoxin-sensitive human N-type calcium channel.
PubMed ID: 1321501
PubMed ID: 15164053
Title: DNA sequence and analysis of human chromosome 9.
PubMed ID: 15164053
DOI: 10.1038/nature02465
PubMed ID: 9030575
Title: Isolation and characterization of the 5'-upstream region of the human N-type calcium channel alpha1B subunit gene. Chromosomal localization and promoter analysis.
PubMed ID: 9030575
PubMed ID: 25296916
Title: CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
PubMed ID: 25296916
DOI: 10.1093/hmg/ddu513
PubMed ID: 26157024
Title: The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.
PubMed ID: 26157024
DOI: 10.1093/hmg/ddv255
PubMed ID: 30982612
Title: Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia.
PubMed ID: 30982612
PubMed ID: 34234349
Title: Structure of human Cav2.2 channel blocked by the painkiller ziconotide.
PubMed ID: 34234349
Sequence Information:
- Length: 2339
- Mass: 262496
- Checksum: 17A45C6D1E76B39D
- Sequence:
MVRFGDELGG RYGGPGGGER ARGGGAGGAG GPGPGGLQPG QRVLYKQSIA QRARTMALYN PIPVKQNCFT VNRSLFVFSE DNVVRKYAKR ITEWPPFEYM ILATIIANCI VLALEQHLPD GDKTPMSERL DDTEPYFIGI FCFEAGIKII ALGFVFHKGS YLRNGWNVMD FVVVLTGILA TAGTDFDLRT LRAVRVLRPL KLVSGIPSLQ VVLKSIMKAM VPLLQIGLLL FFAILMFAII GLEFYMGKFH KACFPNSTDA EPVGDFPCGK EAPARLCEGD TECREYWPGP NFGITNFDNI LFAILTVFQC ITMEGWTDIL YNTNDAAGNT WNWLYFIPLI IIGSFFMLNL VLGVLSGEFA KERERVENRR AFLKLRRQQQ IERELNGYLE WIFKAEEVML AEEDRNAEEK SPLDVLKRAA TKKSRNDLIH AEEGEDRFAD LCAVGSPFAR ASLKSGKTES SSYFRRKEKM FRFFIRRMVK AQSFYWVVLC VVALNTLCVA MVHYNQPRRL TTTLYFAEFV FLGLFLTEMS LKMYGLGPRS YFRSSFNCFD FGVIVGSVFE VVWAAIKPGS SFGISVLRAL RLLRIFKVTK YWSSLRNLVV SLLNSMKSII SLLFLLFLFI VVFALLGMQL FGGQFNFQDE TPTTNFDTFP AAILTVFQIL TGEDWNAVMY HGIESQGGVS KGMFSSFYFI VLTLFGNYTL LNVFLAIAVD NLANAQELTK DEEEMEEAAN QKLALQKAKE VAEVSPMSAA NISIAARQQN SAKARSVWEQ RASQLRLQNL RASCEALYSE MDPEERLRFA TTRHLRPDMK THLDRPLVVE LGRDGARGPV GGKARPEAAE APEGVDPPRR HHRHRDKDKT PAAGDQDRAE APKAESGEPG AREERPRPHR SHSKEAAGPP EARSERGRGP GPEGGRRHHR RGSPEEAAER EPRRHRAHRH QDPSKECAGA KGERRARHRG GPRAGPREAE SGEEPARRHR ARHKAQPAHE AVEKETTEKE ATEKEAEIVE ADKEKELRNH QPREPHCDLE TSGTVTVGPM HTLPSTCLQK VEEQPEDADN QRNVTRMGSQ PPDPNTIVHI PVMLTGPLGE ATVVPSGNVD LESQAEGKKE VEADDVMRSG PRPIVPYSSM FCLSPTNLLR RFCHYIVTMR YFEVVILVVI ALSSIALAAE DPVRTDSPRN NALKYLDYIF TGVFTFEMVI KMIDLGLLLH PGAYFRDLWN ILDFIVVSGA LVAFAFSGSK GKDINTIKSL RVLRVLRPLK TIKRLPKLKA VFDCVVNSLK NVLNILIVYM LFMFIFAVIA VQLFKGKFFY CTDESKELER DCRGQYLDYE KEEVEAQPRQ WKKYDFHYDN VLWALLTLFT VSTGEGWPMV LKHSVDATYE EQGPSPGYRM ELSIFYVVYF VVFPFFFVNI FVALIIITFQ EQGDKVMSEC SLEKNERACI DFAISAKPLT RYMPQNRQSF QYKTWTFVVS PPFEYFIMAM IALNTVVLMM KFYDAPYEYE LMLKCLNIVF TSMFSMECVL KIIAFGVLNY FRDAWNVFDF VTVLGSITDI LVTEIAETNN FINLSFLRLF RAARLIKLLR QGYTIRILLW TFVQSFKALP YVCLLIAMLF FIYAIIGMQV FGNIALDDDT SINRHNNFRT FLQALMLLFR SATGEAWHEI MLSCLSNQAC DEQANATECG SDFAYFYFVS FIFLCSFLML NLFVAVIMDN FEYLTRDSSI LGPHHLDEFI RVWAEYDPAA CGRISYNDMF EMLKHMSPPL GLGKKCPARV AYKRLVRMNM PISNEDMTVH FTSTLMALIR TALEIKLAPA GTKQHQCDAE LRKEISVVWA NLPQKTLDLL VPPHKPDEMT VGKVYAALMI FDFYKQNKTT RDQMQQAPGG LSQMGPVSLF HPLKATLEQT QPAVLRGARV FLRQKSSTSL SNGGAIQNQE SGIKESVSWG TQRTQDAPHE ARPPLERGHS TEIPVGRSGA LAVDVQMQSI TRRGPDGEPQ PGLESQGRAA SMPRLAAETQ PVTDASPMKR SISTLAQRPR GTHLCSTTPD RPPPSQASSH HHHHRCHRRR DRKQRSLEKG PSLSADMDGA PSSAVGPGLP PGEGPTGCRR ERERRQERGR SQERRQPSSS SSEKQRFYSC DRFGGREPPK PKPSLSSHPT SPTAGQEPGP HPQGSGSVNG SPLLSTSGAS TPGRGGRRQL PQTPLTPRPS ITYKTANSSP IHFAGAQTSL PAFSPGRLSR GLSEHNALLQ RDPLSQPLAP GSRIGSDPYL GQRLDSEASV HALPEDTLTF EEAVATNSGR SSRTSYVSSL TSQSHPLRRV PNGYHCTLGL SSGGRARHSY HHPDQDHWC
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.