CACNA1D
entrez
776
canonical
uniprot
Q01668
canonical
ensembl
ENSG00000157388
resolver
ensp
ENSP00000288133
resolver
ensp
ENSP00000288139
resolver
ensp
ENSP00000409174
resolver
ensp
ENSP00000489769
resolver
ensp
ENSP00000490039
resolver
ensp
ENSP00000490183
resolver
ensp
ENSP00000490889
resolver
enst
ENST00000636570
resolver
genesymbol
CACNA1D
resolver
genesymbol_syn
CACH3
resolver
genesymbol_syn
CACN4
resolver
genesymbol_syn
CACNL1A2
resolver
genesymbol_syn
CCHL1A2
resolver
hgnc
HGNC:1391
resolver
uniprot
A0A1B0GUN6
resolver
uniprot
B0FYA3
resolver
uniprot
Q13916
resolver
uniprot
Q13931
resolver
uniprot
Q59GD8
resolver
uniprot
Q71UT1
resolver
uniprot
Q9UDC3
resolver
uniprot_entry
A0A1B0GUN6_HUMAN
resolver
uniprot_entry
CAC1D_HUMAN
resolver
uniprot_entry
Q59GD8_HUMAN
resolver
uniprot_sec
B0FYA3
resolver
uniprot_sec
Q13916
resolver
uniprot_sec
Q13931
resolver
uniprot_sec
Q71UT1
resolver
uniprot_sec
Q9UDC3
resolver
amino_acid_sequence
MMMMMMMKKMQHQRQQQADHANEANYARGTRLPLSGEGPTSQPNSSKQTVLSWQAAIDAARQAKAAQTMSTSAPPPVGSLSQRKRQQYAKSKKQGNSSNSRPARALFCLSLNNPIRRACISIVEWKPFDIFILLAIFANCVALAIYIPFPEDDSNSTNHNLEKVEYAFLIIFTVETFLKIIAYGLLLHPNAYVRNGWNLLDFVIVIVGLFSVILEQLTKETEGGNHSSGKSGGFDVKALRAFRVLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVIIIYAIIGLELFIGKMHKTCFFADSDIVAEEDPAPCAFSGNGRQCTANGTECRSGWVGPNGGITNFDNFAFAMLTVFQCITMEGWTDVLYWMNDAMGFELPWVYFVSLVIFGSFFVLNLVLGVLSGEFSKEREKAKARGDFQKLREKQQLEEDLKGYLDWITQAEDIDPENEEEGGEEGKRNTSMPTSETESVNTENVSGEGENRGCCGSLCQAISKSKLSRRWRRWNRFNRRRCRAAVKSVTFYWLVIVLVFLNTLTISSEHYNQPDWLTQIQDIANKVLLALFTCEMLVKMYSLGLQAYFVSLFNRFDCFVVCGGITETILVELEIMSPLGISVFRCVRLLRIFKVTRHWTSLSNLVASLLNSMKSIASLLLLLFLFIIIFSLLGMQLFGGKFNFDETQTKRSTFDNFPQALLTVFQILTGEDWNAVMYDGIMAYGGPSSSGMIVCIYFIILFICGNYILLNVFLAIAVDNLADAESLNTAQKEEAEEKERKKIARKESLENKKNNKPEVNQIANSDNKVTIDDYREEDEDKDPYPPCDVPVGEEEEEEEEDEPEVPAGPRPRRISELNMKEKIAPIPEGSAFFILSKTNPIRVGCHKLINHHIFTNLILVFIMLSSAALAAEDPIRSHSFRNTILGYFDYAFTAIFTVEILLKMTTFGAFLHKGAFCRNYFNLLDMLVVGVSLVSFGIQSSAISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMIVTTLLQFMFACIGVQLFKGKFYRCTDEAKSNPEECRGLFILYKDGDVDSPVVRERIWQNSDFNFDNVLSAMMALFTVSTFEGWPALLYKAIDSNGENIGPIYNHRVEISIFFIIYIIIVAFFMMNIFVGFVIVTFQEQGEKEYKNCELDKNQRQCVEYALKARPLRRYIPKNPYQYKFWYVVNSSPFEYMMFVLIMLNTLCLAMQHYEQSKMFNDAMDILNMVFTGVFTVEMVLKVIAFKPKGYFSDAWNTFDSLIVIGSIIDVALSEADPTESENVPVPTATPGNSEESNRISITFFRLFRVMRLVKLLSRGEGIRTLLWTFIKSFQALPYVALLIAMLFFIYAVIGMQMFGKVAMRDNNQINRNNNFQTFPQAVLLLFRCATGEAWQEIMLACLPGKLCDPESDYNPGEEYTCGSNFAIVYFISFYMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWSEYDPEAKGRIKHLDVVTLLRRIQPPLGFGKLCPHRVACKRLVAMNMPLNSDGTVMFNATLFALVRTALKIKTEGNLEQANEELRAVIKKIWKKTSMKLLDQVVPPAGDDEVTVGKFYATFLIQDYFRKFKKRKEQGLVGKYPAKNTTIALQAGLRTLHDIGPEIRRAISCDLQDDEPEETKREEEDDVFKRNGALLGNHVNHVNSDRRDSLQQTNTTHRPLHVQRPSIPPASDTEKPLFPPAGNSVCHNHHNHNSIGKQVPTSTNANLNNANMSKAAHGKRPSIGNLEHVSENGHHSSHKHDREPQRRSSVKRTRYYETYIRSDSGDEQLPTICREDPEIHGYFRDPHCLGEQEYFSSEECYEDDSSPTWSRQNYGYYSRYPGRNIDSERPRGYHHPQGFLEDDDSPVCYDSRRSPRRRLLPPTPASHRRSSFNFECLRRQSSQEEVPSSPIFPHRTALPLHLMQQQIMAVAGLDSSKAQKYSPSHSTRSWATPPATPPYRDWTPCYTPLIQVEQSEALDQVNGSLPSLHRSSWYTDEPDISYRTFTPASLTVPSSFRNKNSDKQRSADSLVEAVLISEGLGRYARDPKFVSATKHEIADACDLTIDEMESAASTLLNGNVRPRANGDVGPLSHRQDYELQDFGPGYSDEEPDPGRDEEDLADEMICITTL
uniprot
proteins
disease_involvement
DISEASE: Sinoatrial node dysfunction and deafness (SANDD) [MIM:614896]: A disease characterized by congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia. {ECO:0000269|PubMed:21131953}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Primary aldosteronism, seizures, and neurologic abnormalities (PASNA) [MIM:615474]: A disorder characterized by hypertension, hypokalemia, and high aldosterone levels with low plasma renin activity and an elevated aldosterone/renin ratio. Other features include generalized seizures, cerebral palsy, spasticity, intellectual disability, and developmental delay. {ECO:0000269|PubMed:23913001}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Gain of function variations affecting the gene represented in this entry may be associated with susceptibility to autism spetrum disorders. {ECO:0000269|PubMed:22495309, ECO:0000269|PubMed:22542183, ECO:0000269|PubMed:25620733, ECO:0000269|PubMed:28472301}.
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. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines. {ECO:0000269|PubMed:21131953, ECO:0000269|PubMed:23913001, ECO:0000269|PubMed:25620733, ECO:0000269|PubMed:28472301}.; FUNCTION: [Isoform Neuronal-type]: 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. The isoform alpha-1D gives rise to L-type calcium currents. {ECO:0000269|PubMed:1309651}.; FUNCTION: [Isoform 3]: 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. The isoform alpha-1D gives rise to L-type calcium currents. {ECO:0000269|PubMed:18482979}.; FUNCTION: [Isoform 4]: 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. The isoform alpha-1D gives rise to L-type calcium currents. {ECO:0000269|PubMed:18482979}.
uniprot
proteins
mass_dalton
245141
uniprot
proteins
protein_family
CACNA1D subfamily
uniprot
proteins
protein_family
Calcium channel alpha-1 subunit (TC 1.A.1.11) family
uniprot
proteins
pubmed
1309651
uniprot
proteins
pubmed
1309948
uniprot
proteins
pubmed
1335101
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
18482979
uniprot
proteins
pubmed
21131953
uniprot
proteins
pubmed
21280120
uniprot
proteins
pubmed
22495309
uniprot
proteins
pubmed
22542183
uniprot
proteins
pubmed
23913001
uniprot
proteins
pubmed
25620733
uniprot
proteins
pubmed
28472301
uniprot
proteins
pubmed
7557998
uniprot
proteins
pubmed
9894156
uniprot
proteins
sequence_length
2161
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:18482979}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 127..145; /note="Helical; Name=S1 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 164..183; /note="Helical; Name=S2 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 196..214; /note="Helical; Name=S3 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 236..254; /note="Helical; Name=S4 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 274..293; /note="Helical; Name=S5 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 382..406; /note="Helical; Name=S6 of repeat I"; /evidence="ECO:0000255"; TRANSMEM 524..543; /note="Helical; Name=S1 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 559..577; /note="Helical; Name=S2 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 586..604; /note="Helical; Name=S3 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 615..633; /note="Helical; Name=S4 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 653..673; /note="Helical; Name=S5 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 728..752; /note="Helical; Name=S6 of repeat II"; /evidence="ECO:0000255"; TRANSMEM 887..905; /note="Helical; Name=S1 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 922..941; /note="Helical; Name=S2 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 954..972; /note="Helical; Name=S3 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 979..998; /note="Helical; Name=S4 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1018..1037; /note="Helical; Name=S5 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1128..1148; /note="Helical; Name=S6 of repeat III"; /evidence="ECO:0000255"; TRANSMEM 1206..1224; /note="Helical; Name=S1 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1240..1259; /note="Helical; Name=S2 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1267..1288; /note="Helical; Name=S3 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1314..1333; /note="Helical; Name=S4 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1353..1372; /note="Helical; Name=S5 of repeat IV"; /evidence="ECO:0000255"; TRANSMEM 1440..1464; /note="Helical; Name=S6 of repeat IV"; /evidence="ECO:0000255
uniprot
proteins