Details for: CACNA1S
Associated with
Other Information
Genular Protein ID: 2369363396
Symbol: CAC1S_HUMAN
Name: Voltage-dependent L-type calcium channel subunit alpha-1S
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 7713519
Title: Cloning of the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3).
PubMed ID: 7713519
PubMed ID: 8838325
Title: The structure of the gene encoding the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3).
PubMed ID: 8838325
PubMed ID: 16710414
Title: The DNA sequence and biological annotation of human chromosome 1.
PubMed ID: 16710414
DOI: 10.1038/nature04727
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: 7916735
Title: Assignment of the human gene for the alpha-1 subunit of the skeletal muscle DHP-sensitive calcium channel (CACNL1A3) to chromosome 1q31-q32.
PubMed ID: 7916735
PubMed ID: 8004673
Title: Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.
PubMed ID: 8004673
PubMed ID: 15001631
Title: Association of novel single nucleotide polymorphisms in the calcium channel alpha 1 subunit gene (Ca(v)1.1) and thyrotoxic periodic paralysis.
PubMed ID: 15001631
PubMed ID: 19473981
Title: Determinants in CaV1 channels that regulate the Ca2+ sensitivity of bound calmodulin.
PubMed ID: 19473981
PubMed ID: 29078335
Title: Structural insights into binding of STAC proteins to voltage-gated calcium channels.
PubMed ID: 29078335
PubMed ID: 7987325
Title: A calcium channel mutation causing hypokalemic periodic paralysis.
PubMed ID: 7987325
DOI: 10.1093/hmg/3.8.1415
PubMed ID: 9199552
Title: Malignant-hyperthermia susceptibility is associated with a mutation of the alpha-1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.
PubMed ID: 9199552
DOI: 10.1086/515454
PubMed ID: 28012042
Title: Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
PubMed ID: 28012042
PubMed ID: 18162704
Title: The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.
PubMed ID: 18162704
PubMed ID: 17418573
Title: Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.
PubMed ID: 17418573
PubMed ID: 19118277
Title: Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
PubMed ID: 19118277
PubMed ID: 31227654
Title: Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family.
PubMed ID: 31227654
DOI: 10.3233/jnd-190383
PubMed ID: 33060286
Title: Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
PubMed ID: 33060286
Sequence Information:
- Length: 1873
- Mass: 212350
- Checksum: 7B7446727E578913
- Sequence:
MEPSSPQDEG LRKKQPKKPV PEILPRPPRA LFCLTLENPL RKACISIVEW KPFETIILLT IFANCVALAV YLPMPEDDNN SLNLGLEKLE YFFLIVFSIE AAMKIIAYGF LFHQDAYLRS GWNVLDFTIV FLGVFTVILE QVNVIQSHTA PMSSKGAGLD VKALRAFRVL RPLRLVSGVP SLQVVLNSIF KAMLPLFHIA LLVLFMVIIY AIIGLELFKG KMHKTCYFIG TDIVATVENE EPSPCARTGS GRRCTINGSE CRGGWPGPNH GITHFDNFGF SMLTVYQCIT MEGWTDVLYW VNDAIGNEWP WIYFVTLILL GSFFILNLVL GVLSGEFTKE REKAKSRGTF QKLREKQQLD EDLRGYMSWI TQGEVMDVED FREGKLSLDE GGSDTESLYE IAGLNKIIQF IRHWRQWNRI FRWKCHDIVK SKVFYWLVIL IVALNTLSIA SEHHNQPLWL TRLQDIANRV LLSLFTTEML MKMYGLGLRQ YFMSIFNRFD CFVVCSGILE ILLVESGAMT PLGISVLRCI RLLRIFKITK YWTSLSNLVA SLLNSIRSIA SLLLLLFLFI VIFALLGMQL FGGRYDFEDT EVRRSNFDNF PQALISVFQV LTGEDWTSMM YNGIMAYGGP SYPGMLVCIY FIILFVCGNY ILLNVFLAIA VDNLAEAESL TSAQKAKAEE KKRRKMSKGL PDKSEEEKST MAKKLEQKPK GEGIPTTAKL KIDEFESNVN EVKDPYPSAD FPGDDEEDEP EIPLSPRPRP LAELQLKEKA VPIPEASSFF IFSPTNKIRV LCHRIVNATW FTNFILLFIL LSSAALAAED PIRADSMRNQ ILKHFDIGFT SVFTVEIVLK MTTYGAFLHK GSFCRNYFNM LDLLVVAVSL ISMGLESSAI SVVKILRVLR VLRPLRAINR AKGLKHVVQC MFVAISTIGN IVLVTTLLQF MFACIGVQLF KGKFFRCTDL SKMTEEECRG YYYVYKDGDP MQIELRHREW VHSDFHFDNV LSAMMSLFTV STFEGWPQLL YKAIDSNAED VGPIYNNRVE MAIFFIIYII LIAFFMMNIF VGFVIVTFQE QGETEYKNCE LDKNQRQCVQ YALKARPLRC YIPKNPYQYQ VWYIVTSSYF EYLMFALIML NTICLGMQHY NQSEQMNHIS DILNVAFTII FTLEMILKLM AFKARGYFGD PWNVFDFLIV IGSIIDVILS EIDTFLASSG GLYCLGGGCG NVDPDESARI SSAFFRLFRV MRLIKLLSRA EGVRTLLWTF IKSFQALPYV ALLIVMLFFI YAVIGMQMFG KIALVDGTQI NRNNNFQTFP QAVLLLFRCA TGEAWQEILL ACSYGKLCDP ESDYAPGEEY TCGTNFAYYY FISFYMLCAF LVINLFVAVI MDNFDYLTRD WSILGPHHLD EFKAIWAEYD PEAKGRIKHL DVVTLLRRIQ PPLGFGKFCP HRVACKRLVG MNMPLNSDGT VTFNATLFAL VRTALKIKTE GNFEQANEEL RAIIKKIWKR TSMKLLDQVI PPIGDDEVTV GKFYATFLIQ EHFRKFMKRQ EEYYGYRPKK DIVQIQAGLR TIEEEAAPEI CRTVSGDLAA EEELERAMVE AAMEEGIFRR TGGLFGQVDN FLERTNSLPP VMANQRPLQF AEIEMEEMES PVFLEDFPQD PRTNPLARAN TNNANANVAY GNSNHSNSHV FSSVHYEREF PEETETPATR GRALGQPCRV LGPHSKPCVE MLKGLLTQRA MPRGQAPPAP CQCPRVESSM PEDRKSSTPG SLHEETPHSR STRENTSRCS APATALLIQK ALVRGGLGTL AADANFIMAT GQALADACQM EPEEVEIMAT ELLKGREAPE GMASSLGCLN LGSSLGSLDQ HQGSQETLIP PRL
Genular Protein ID: 3367841618
Symbol: B1ALM3_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 16710414
Title: The DNA sequence and biological annotation of human chromosome 1.
PubMed ID: 16710414
DOI: 10.1038/nature04727
Sequence Information:
- Length: 1854
- Mass: 210592
- Checksum: 05DBA9AFDE822B06
- Sequence:
MEPSSPQDEG LRKKQPKKPV PEILPRPPRA LFCLTLENPL RKACISIVEW KPFETIILLT IFANCVALAV YLPMPEDDNN SLNLGLEKLE YFFLIVFSIE AAMKIIAYGF LFHQDAYLRS GWNVLDFTIV FLGVFTVILE QVNVIQSHTA PMSSKGAGLD VKALRAFRVL RPLRLVSGVP SLQVVLNSIF KAMLPLFHIA LLVLFMVIIY AIIGLELFKG KMHKTCYFIG TDIVATVENE EPSPCARTGS GRRCTINGSE CRGGWPGPNH GITHFDNFGF SMLTVYQCIT MEGWTDVLYW VNDAIGNEWP WIYFVTLILL GSFFILNLVL GVLSGEFTKE REKAKSRGTF QKLREKQQLD EDLRGYMSWI TQGEVMDVED FREGKLSLDE GGSDTESLYE IAGLNKIIQF IRHWRQWNRI FRWKCHDIVK SKVFYWLVIL IVALNTLSIA SEHHNQPLWL TRLQDIANRV LLSLFTTEML MKMYGLGLRQ YFMSIFNRFD CFVVCSGILE ILLVESGAMT PLGISVLRCI RLLRIFKITK YWTSLSNLVA SLLNSIRSIA SLLLLLFLFI VIFALLGMQL FGGRYDFEDT EVRRSNFDNF PQALISVFQV LTGEDWTSMM YNGIMAYGGP SYPGMLVCIY FIILFVCGNY ILLNVFLAIA VDNLAEAESL TSAQKAKAEE KKRRKMSKGL PDKSEEEKST MAKKLEQKPK GEGIPTTAKL KIDEFESNVN EVKDPYPSAD FPGDDEEDEP EIPLSPRPRP LAELQLKEKA VPIPEASSFF IFSPTNKIRV LCHRIVNATW FTNFILLFIL LSSAALAAED PIRADSMRNQ ILKHFDIGFT SVFTVEIVLK MTTYGAFLHK GSFCRNYFNM LDLLVVAVSL ISMGLESSAI SVVKILRVLR VLRPLRAINR AKGLKHVVQC MFVAISTIGN IVLVTTLLQF MFACIGVQLF KGKFFRCTDL SKMTEEECRG YYYVYKDGDP MQIELRHREW VHSDFHFDNV LSAMMSLFTV STFEGWPQLL YKAIDSNAED VGPIYNNRVE MAIFFIIYII LIAFFMMNIF VGFVIVTFQE QGETEYKNCE LDKNQRQCVQ YALKARPLRC YIPKNPYQYQ VWYIVTSSYF EYLMFALIML NTICLGMQHY NQSEQMNHIS DILNVAFTII FTLEMILKLM AFKARGYFGD PWNVFDFLIV IGSIIDVILS EIDDPDESAR ISSAFFRLFR VMRLIKLLSR AEGVRTLLWT FIKSFQALPY VALLIVMLFF IYAVIGMQMF GKIALVDGTQ INRNNNFQTF PQAVLLLFRC ATGEAWQEIL LACSYGKLCD PESDYAPGEE YTCGTNFAYY YFISFYMLCA FLVINLFVAV IMDNFDYLTR DWSILGPHHL DEFKAIWAEY DPEAKGRIKH LDVVTLLRRI QPPLGFGKFC PHRVACKRLV GMNMPLNSDG TVTFNATLFA LVRTALKIKT EGNFEQANEE LRAIIKKIWK RTSMKLLDQV IPPIGDDEVT VGKFYATFLI QEHFRKFMKR QEEYYGYRPK KDIVQIQAGL RTIEEEAAPE ICRTVSGDLA AEEELERAMV EAAMEEGIFR RTGGLFGQVD NFLERTNSLP PVMANQRPLQ FAEIEMEEME SPVFLEDFPQ DPRTNPLARA NTNNANANVA YGNSNHSNSH VFSSVHYERE FPEETETPAT RGRALGQPCR VLGPHSKPCV EMLKGLLTQR AMPRGQAPPA PCQCPRVESS MPEDRKSSTP GSLHEETPHS RSTRENTSRC SAPATALLIQ KALVRGGLGT LAADANFIMA TGQALADACQ MEPEEVEIMA TELLKGREAP EGMASSLGCL NLGSSLGSLD QHQGSQETLI PPRL
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.