CACNA1B
entrez
774
canonical
uniprot
Q00975
canonical
ensembl
ENSG00000148408
resolver
ensp
ENSP00000277551
resolver
ensp
ENSP00000360423
resolver
genesymbol
CACNA1B
resolver
genesymbol_syn
CACH5
resolver
genesymbol_syn
CACNL1A5
resolver
hgnc
HGNC:1389
resolver
uniprot
B1AQK5
resolver
uniprot_entry
CAC1B_HUMAN
resolver
uniprot_sec
B1AQK5
resolver
activity_regulation
ACTIVITY REGULATION: Is specifically blocked by omega-conotoxin GVIA (By similarity). Is specifically blocked by omega-conotoxin MVIIA (ziconotide) (PubMed:34234349). Is insensitive to dihydropyridines (DHP). {ECO:0000250|UniProtKB:Q02294, ECO:0000305|PubMed:34234349}.; ACTIVITY REGULATION: [Isoform Alpha-1B-1]: Is specifically blocked by omega-conotoxin MVIIA (ziconotide). Is insensitive to dihydropyridines (DHP). {ECO:0000269|PubMed:1321501}.
uniprot
proteins
amino_acid_sequence
MVRFGDELGGRYGGPGGGERARGGGAGGAGGPGPGGLQPGQRVLYKQSIAQRARTMALYNPIPVKQNCFTVNRSLFVFSEDNVVRKYAKRITEWPPFEYMILATIIANCIVLALEQHLPDGDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFVFHKGSYLRNGWNVMDFVVVLTGILATAGTDFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYMGKFHKACFPNSTDAEPVGDFPCGKEAPARLCEGDTECREYWPGPNFGITNFDNILFAILTVFQCITMEGWTDILYNTNDAAGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFAKERERVENRRAFLKLRRQQQIERELNGYLEWIFKAEEVMLAEEDRNAEEKSPLDVLKRAATKKSRNDLIHAEEGEDRFADLCAVGSPFARASLKSGKTESSSYFRRKEKMFRFFIRRMVKAQSFYWVVLCVVALNTLCVAMVHYNQPRRLTTTLYFAEFVFLGLFLTEMSLKMYGLGPRSYFRSSFNCFDFGVIVGSVFEVVWAAIKPGSSFGISVLRALRLLRIFKVTKYWSSLRNLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFQDETPTTNFDTFPAAILTVFQILTGEDWNAVMYHGIESQGGVSKGMFSSFYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEEEMEEAANQKLALQKAKEVAEVSPMSAANISIAARQQNSAKARSVWEQRASQLRLQNLRASCEALYSEMDPEERLRFATTRHLRPDMKTHLDRPLVVELGRDGARGPVGGKARPEAAEAPEGVDPPRRHHRHRDKDKTPAAGDQDRAEAPKAESGEPGAREERPRPHRSHSKEAAGPPEARSERGRGPGPEGGRRHHRRGSPEEAAEREPRRHRAHRHQDPSKECAGAKGERRARHRGGPRAGPREAESGEEPARRHRARHKAQPAHEAVEKETTEKEATEKEAEIVEADKEKELRNHQPREPHCDLETSGTVTVGPMHTLPSTCLQKVEEQPEDADNQRNVTRMGSQPPDPNTIVHIPVMLTGPLGEATVVPSGNVDLESQAEGKKEVEADDVMRSGPRPIVPYSSMFCLSPTNLLRRFCHYIVTMRYFEVVILVVIALSSIALAAEDPVRTDSPRNNALKYLDYIFTGVFTFEMVIKMIDLGLLLHPGAYFRDLWNILDFIVVSGALVAFAFSGSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVLNILIVYMLFMFIFAVIAVQLFKGKFFYCTDESKELERDCRGQYLDYEKEEVEAQPRQWKKYDFHYDNVLWALLTLFTVSTGEGWPMVLKHSVDATYEEQGPSPGYRMELSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKVMSECSLEKNERACIDFAISAKPLTRYMPQNRQSFQYKTWTFVVSPPFEYFIMAMIALNTVVLMMKFYDAPYEYELMLKCLNIVFTSMFSMECVLKIIAFGVLNYFRDAWNVFDFVTVLGSITDILVTEIAETNNFINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIALDDDTSINRHNNFRTFLQALMLLFRSATGEAWHEIMLSCLSNQACDEQANATECGSDFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFIRVWAEYDPAACGRISYNDMFEMLKHMSPPLGLGKKCPARVAYKRLVRMNMPISNEDMTVHFTSTLMALIRTALEIKLAPAGTKQHQCDAELRKEISVVWANLPQKTLDLLVPPHKPDEMTVGKVYAALMIFDFYKQNKTTRDQMQQAPGGLSQMGPVSLFHPLKATLEQTQPAVLRGARVFLRQKSSTSLSNGGAIQNQESGIKESVSWGTQRTQDAPHEARPPLERGHSTEIPVGRSGALAVDVQMQSITRRGPDGEPQPGLESQGRAASMPRLAAETQPVTDASPMKRSISTLAQRPRGTHLCSTTPDRPPPSQASSHHHHHRCHRRRDRKQRSLEKGPSLSADMDGAPSSAVGPGLPPGEGPTGCRRERERRQERGRSQERRQPSSSSSEKQRFYSCDRFGGREPPKPKPSLSSHPTSPTAGQEPGPHPQGSGSVNGSPLLSTSGASTPGRGGRRQLPQTPLTPRPSITYKTANSSPIHFAGAQTSLPAFSPGRLSRGLSEHNALLQRDPLSQPLAPGSRIGSDPYLGQRLDSEASVHALPEDTLTFEEAVATNSGRSSRTSYVSSLTSQSHPLRRVPNGYHCTLGLSSGGRARHSYHHPDQDHWC
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements (NEDNEH) [MIM:618497]: An autosomal recessive, complex and progressive neurologic disorder characterized by severe neurodevelopmental delay and developmental regression, epileptic encephalopathy, postnatal microcephaly, hypotonia, and non-epileptic hyperkinetic movement disorder, including myoclonus dystonia, choreoathetosis, or generalized dyskinesia. Disease onset in infancy or first years of life. {ECO:0000269|PubMed:30982612}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This alpha-1B subunit gives rise to N-type calcium currents. N-type calcium channels belong to the 'high-voltage activated' (HVA) group. They are involved in pain signaling (PubMed:25296916). Calcium channels containing alpha-1B subunit may play a role in directed migration of immature neurons. Mediates Ca(2+) release probability at hippocampal neuronal soma and synaptic terminals (By similarity). {ECO:0000250|UniProtKB:Q02294, ECO:0000269|PubMed:25296916}.; FUNCTION: [Isoform Alpha-1B-1]: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This alpha-1B subunit gives rise to N-type calcium currents. {ECO:0000269|PubMed:1321501}.
uniprot
proteins
mass_dalton
262496
uniprot
proteins
post_translational_modification
PTM: Phosphorylated in vitro by CaM-kinase II, PKA, PKC and CGPK. {ECO:0000250|UniProtKB:Q02294}.
uniprot
proteins
protein_family
CACNA1B subfamily
uniprot
proteins
protein_family
Calcium channel alpha-1 subunit (TC 1.A.1.11) family
uniprot
proteins
pubmed
1321501
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
25296916
uniprot
proteins
pubmed
26157024
uniprot
proteins
pubmed
30982612
uniprot
proteins
pubmed
34234349
uniprot
proteins
pubmed
9030575
uniprot
proteins
sequence_length
2339
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:34234349}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 91..114; /note="Helical; Name=S1 of repeat I"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 132..152; /note="Helical; Name=S2 of repeat I"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 164..182; /note="Helical; Name=S3 of repeat I"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 188..211; /note="Helical; Name=S4 of repeat I"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 222..244; /note="Helical; Name=S5 of repeat I"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 332..356; /note="Helical; Name=S6 of repeat I"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 483..501; /note="Helical; Name=S1 of repeat II"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 512..534; /note="Helical; Name=S2 of repeat II"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 545..566; /note="Helical; Name=S3 of repeat II"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 574..586; /note="Helical; Name=S4 of repeat II"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 605..630; /note="Helical; Name=S5 of repeat II"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 683..709; /note="Helical; Name=S6 of repeat II"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 1152..1170; /note="Helical; Name=S1 of repeat III"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 1179..1203; /note="Helical; Name=S2 of repeat III"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 1218..1238; /note="Helical; Name=S3 of repeat III"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 1245..1265; /note="Helical; Name=S4 of repeat III"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 1284..1303; /note="Helical; Name=S5 of repeat III"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 1391..1416; /note="Helical; Name=S6 of repeat III"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 1472..1490; /note="Helical; Name=S1 of repeat IV"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 1499..1523; /note="Helical; Name=S2 of repeat IV"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 1534..1555; /note="Helical; Name=S3 of repeat IV"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 1564..1582; /note="Helical; Name=S4 of repeat IV"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 1602..1621; /note="Helical; Name=S5 of repeat IV"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY"; TRANSMEM 1684..1707; /note="Helical; Name=S6 of repeat IV"; /evidence="ECO:0000269|PubMed:34234349, ECO:0007744|PDB:7MIX, ECO:0007744|PDB:7MIY
uniprot
proteins