| Tag | Content |
|---|---|
| Uniprot ID | Q02789; Q99240; |
| Entrez ID | |
| Genbank protein ID | AAB59700.1; AAA63290.1; AAA03684.1; |
| Genbank nucleotide ID | |
| Ensembl protein ID | |
| Ensembl nucleotide ID | |
| Gene name | Voltage-dependent L-type calcium channel subunit alpha-1S |
| Gene symbol | Cacna1s |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 14300095; 7119092; |
| Functional description | Pore-forming, alpha-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle via their interaction with RYR1, which triggers Ca(2+) release from the sarcplasmic reticulum and ultimately results in muscle contraction. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. |
| Sequence | MEPPSPQDEG LRKKQPKKPV PEILPRPPRA LFCLTLQNPL RKACISIVEW KPFETIILLT 60 IFANCVALAV YLPMPEDDNN TLNLGLEKLE YFFLIVFSIE AAMKIIAYGF LFHQDAYLRS 120 GWNVLDFIIV FLGVFTVILE QVNIIQTNTA PMSSKGAGLD VKALRAFRVL RPLRLVSGVP 180 SLQVVLNSIF KAMLPLFHIA LLVLFMVIIY AIIGLELFKG KMHKTCYFIG TDIVATVENE 240 KPSPCARTGS GRPCTINGSE CRGGWPGPNH GITHFDNFGF SMLTVYQCIS MEGWTDVLYW 300 VNDAIGNEWP WIYFVTLILL GSFFILNLVL GVLSGEFTKE REKAKSRGTF QKLREKQQLE 360 EDLRGYMSWI TQGEVMDVDD LREGKLSLDE GGSDTESLYE IEGLNKIIQF IRHWRQWNRV 420 FRWKCHDLVK SKVFYWLVIL IVALNTLSIA SEHHNQPLWL THLQDVANRV LLTLFTIEML 480 MKMYGLGLRQ YFMSIFNRFD CFVVCSGILE ILLVESGAMS PLGISVLRCI RLLRLFKITK 540 YWTSLSNLVA SLLNSIRSIA SLLLLLFLFI IIFALLGMQL FGGRYDFEDT EVRRSNFDNF 600 PQALISVFQV LTGEDWNSVM YNGIMAYGGP TYPGVLVCIY FIILFVCGNY ILLNVFLAIA 660 VDNLAEAESL TSAQKAKAEE RKRRKMSKGL PDKSEEERAT VTKKLEQKSK GEGIPTTAKL 720 KIDEFESNVN EVKDPYPSAD FPGDDEEDEP EIPVSPRPRP LAELQLKEKA VPIPEASSFF 780 IFSPTNKIRV LCHRIVNATW FTNFILLFIL LSSAALAAED PIRADSMRNQ ILEYFDYVFT 840 AVFTVEIVLK MTTYGAFLHK GSFCRNYFNI LDLLVVAVSL ISMGLESSAI SVVKILRVLR 900 VLRPLRAINR AKGLKHVVQC VFVAIRTIGN IVLVTTLLQF MFACIGVQLF KGKFYSCNDL 960 SKMTEEECRG YYYIYKDGDP TQIELRPRQW IHNDFHFDNV LSAMMSLFTV STFEGWPQLL 1020 YKAIDSNEED TGPVYNNRVE MAIFFIIYII LIAFFMMNIF VGFVIVTFQE QGETEYKNCE 1080 LDKNQRQCVQ YALKARPLRC YIPKNPYQYQ VWYVVTSSYF EYLMFALIML NTICLGMQHY 1140 NQSEQMNHIS DILNVAFTII FTLEMVLKLI AFKPRAYFGD PWNVFDFLIV IGSIIDVILS 1200 EIDTFLASSG GLYCLGGGCG NVDPDESARI SSAFFRLFRV MRLVKLLNRA EGVRTLLWTF 1260 IKSFQALPYV ALLIVMLFFI YAVIGMQMFG KIAMVDGTQI NRNNNFQTFP QAVLLLFRCA 1320 TGEAWQEILL ACSYGKLCDP ESDYAPGEEH TCGTNFAYYY FISFYMLCAF LIINLFVAVI 1380 MDNFDYLTRD WSILGPHHLD EFKAIWAEYD PEAKGRIKHL DVVTLLRRIQ PPLGFGKFCP 1440 HRVACKRLVG MNMPLNSDGT VTFNATLFAL VRTALKIKTE GNFEQANEEL RAIIKKIWKR 1500 TSMKLLDQVI PPIGDDEVTV GKFYATFLIQ EHFRKFMKRQ EEYYGYRPKK DTVQIQAGLR 1560 TIEEEAAPEI HRAISGDPTA EEELERAMVE AAMEEGIFRR TGGLFGQVDN FLERTNSLPP 1620 VMANQRPLQF AEIEMEELES PVFLEDFPQN PGTHPLARAN TNNANANVAY GNSSHRNNPV 1680 FSSICYEREF LGEADMPVTR EGPLSQPCSG SGPHSRSHVD KLKRPMTQRG MPEGQVPPSP 1740 CQLSQAEHPV QKEGKGPTSR FLETPNSRNF EEHVPRNSAH RCTAPATAML IQEALVRGGL 1800 DSLAADANFV MATGQALADA CQMEPEEVEV AATELLKQES PEAGPCLGAL SLRSSPGPPE 1860 SDDWGSQTTL ITPRCEAYTE |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005245 | voltage-gated calcium channel activity | ISO |
| GO:0005245 | voltage-gated calcium channel activity | IDA |
| GO:0005245 | voltage-gated calcium channel activity | IBA |
| GO:0005245 | voltage-gated calcium channel activity | IMP |
| GO:0005516 | calmodulin binding | IEA |
| GO:0008331 | high voltage-gated calcium channel activity | ISO |
| GO:0008331 | high voltage-gated calcium channel activity | IBA |
| GO:0046872 | metal ion binding | IEA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001501 | skeletal system development | IMP |
| GO:0002074 | extraocular skeletal muscle development | IMP |
| GO:0006816 | calcium ion transport | ISO |
| GO:0006816 | calcium ion transport | IMP |
| GO:0006816 | calcium ion transport | IDA |
| GO:0006816 | calcium ion transport | IBA |
| GO:0006936 | muscle contraction | ISO |
| GO:0006936 | muscle contraction | IMP |
| GO:0006936 | muscle contraction | IDA |
| GO:0006941 | striated muscle contraction | IMP |
| GO:0007029 | endoplasmic reticulum organization | IMP |
| GO:0007519 | skeletal muscle tissue development | IMP |
| GO:0007520 | myoblast fusion | IMP |
| GO:0007528 | neuromuscular junction development | IMP |
| GO:0034765 | regulation of ion transmembrane transport | IEA |
| GO:0043501 | skeletal muscle adaptation | IMP |
| GO:0048741 | skeletal muscle fiber development | IMP |
| GO:0048741 | skeletal muscle fiber development | IDA |
| GO:0055001 | muscle cell development | IMP |
| GO:0070509 | calcium ion import | IBA |
| GO:0070588 | calcium ion transmembrane transport | IEA |
| GO:0071313 | cellular response to caffeine | ISS |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005737 | cytoplasm | ISO |
| GO:0005886 | plasma membrane | ISO |
| GO:0005891 | voltage-gated calcium channel complex | ISO |
| GO:0016529 | sarcoplasmic reticulum | IDA |
| GO:0030315 | T-tubule | ISO |
| GO:0030315 | T-tubule | IDA |
| GO:0031674 | I band | ISO |
| GO:0042383 | sarcolemma | ISO |
| GO:0044327 | dendritic spine head | ISO |
| GO:1990454 | L-type voltage-gated calcium channel complex | ISS |
| Reactome ID | Reactome Term | Evidence |
|---|
| Keyword ID | Keyword Term |
|---|---|
| KW-0002 | 3D-structure |
| KW-0025 | Alternative splicing |
| KW-0106 | Calcium |
| KW-0107 | Calcium channel |
| KW-0109 | Calcium transport |
| KW-0112 | Calmodulin-binding |
| KW-1003 | Cell membrane |
| KW-1015 | Disulfide bond |
| KW-0325 | Glycoprotein |
| KW-0407 | Ion channel |
| KW-0406 | Ion transport |
| KW-0472 | Membrane |
| KW-0479 | Metal-binding |
| KW-0597 | Phosphoprotein |
| KW-1185 | Reference proteome |
| KW-0677 | Repeat |
| KW-0812 | Transmembrane |
| KW-1133 | Transmembrane helix |
| KW-0813 | Transport |
| KW-0851 | Voltage-gated channel |