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0CAC1H_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameCACNA1H
DescriptionVoltage-dependent t-type calcium channel alpha-1h subunit (voltage- gated calcium channel alpha subunit cav3.2) (low-voltage-activated calcium channel alpha1 3.2 subunit).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005891 voltage-gated calcium channel complex (TAS)
0008332 low voltage-gated calcium channel activity (TAS)
0006936 muscle contraction (TAS)
0007517 muscle development (NAS)
0007520 myoblast fusion (TAS)
0008016 regulation of heart contraction rate (TAS)
0006810 transport (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains assigned to SynO:
Cation channels are transport proteins responsible for the movement of cations through the membrane. These proteins contain 6 transmembrane helices in which the last two helices flank a loop which determines ion selectivity. In some sub-families (e.g. Na channels) the domain is repeated four times.hereas in others (e.g. K channels) the protein forms as a tetramer in the membrane. Calcium channel proteins are involved in the control of neurotransmitterrelease from neurons .nd play an important role in the regulation ofa variety of cellular functions.ncluding membrane excitability.usclecontraction and synaptic transmission . The channel proteins arecomposed of 4 tightly-coupled subunits (alpha-1.lpha-2.eta and gamma).he alpha-1 subunit from each creating the pore for the import ofextracellular calcium ions. The alpha-1 subunit shares sequencecharacteristics with all voltage-dependent cation channels.nd exploitsthe same 6-helix bundle structural motif - in both sodium and calciumchannels.his motif is repeated 4 times within the sequence to give a24-helix bundle. There are several tissue-specific pharmacologically andelectrophysiologically distinct isoforms of calcium channels.oded forby separate genes in a multi-gene family. In skeletal muscle.achtightly-bound assembly of alpha.eta and gamma subunits associates with4 others to form a pentameric macromolecule .
  IPR002077:Ca2+ channel, alpha subunit
InterPro domains unassigned to SynO:
This group of proteins is found in sodium.otassium.nd calcium ion channels proteins. The proteins have 6 transmembrane helices in which the last two helices flank a loop which determines ion selectivity. In some Na channels proteins the domain is repeated four times.hereas in others (e.g. K channels) the protein forms a tetramer in the membrane. A bacterial structure of the protein is known for the last two helices but is not included in the Pfam family due to it lacking the first four helices.
  IPR005821:Ion transport
Ca2+ ions are unique in that they not only carry charge but they are also the most widely used of diffusible second messengers. Voltage-dependent Ca2+ channels (VDCC) are a family of molecules that allow cells to couple electrical activity to intracellular Ca2+ signalling. The opening and closing of these channels by depolarizing stimuli.uch as action potentials.llows Ca2+ ions to enter neurons down a steep electrochemical gradient.roducing transient intracellular Ca2+ signals. Many of the processes that occur in neurons.ncluding transmitter release.ene transcription and metabolism are controlled by Ca2+ influx occurring simultaneously at different cellular locales. The activity of this pore is modulated by 4 tightly-coupled subunits: an intracellular beta subunit; a transmembrane gammasubunit; and a disulphide-linked complex of alpha-2 and delta subunits.hich are proteolytically cleaved from the same gene product. Voltage-gated calcium channels are classified as T.... and R.nd are distinguished by their sensitivity to pharmacological blocks.ingle-channel conductance kinetics.nd voltage-dependence. On the basis of their voltage activation properties.he voltage-gated calcium classes can be further divided into two broad groups: the low (T-type) and high (L... and R-type) threshold-activated channels . Generally.he channel proteins are composed of 4 tightly-coupled subunits (alpha-1.lpha-2.eta and gamma).he alpha-1 subunit from each creating the pore for the import of extracellular calcium ions. The alpha-1 subunit shares sequence characteristics with all voltage-dependent cation channels.nd exploits the same 6-helix bundle structural motif - in both sodium and calcium channels.his motif is repeated 4 times within the sequence to give a 24-helix bundle. Within each of these repeats. of the transmembrane (TM) segments (S1.2.3.5.6) are hydrophobic and one is positively charged (S4) - the latter is characterised by charged amino acids at very third position.nd probably represents the voltage-sensor. Several genes encoding alpha-1 subunits have been identified.ach forming a distinct electrophysiological channel. T-type calcium channels are composed of alpha-1G and alpha-1H subunits. They exhibit unique voltage- dependent kinetics.mall single channel conductance.apid inactivation.low deactivation and a relatively high permeability to calcium . They are primarily responsible for rebound burst firing in central neurons and are implicated in normal brain functions.uch as slow wave sleep.nd in diseased states.uch as epilepsy . They also play an important role in hormone secretion and smooth muscle excitability .
  IPR005445:T-type voltage-dependent calcium channel alpha 1 subunit
IPR005821:Ion_trans 
Evalue:-68.3010330200195 
Location:1330-1554IPR005821:Ion_trans 
Evalue:-62.4317970275879 
Location:138-418IPR005821:Ion_trans 
Evalue:-57.3767509460449 
Location:1651-1859IPR005821:Ion_trans 
Evalue:-55.1739234924316 
Location:827-1014IPR005445:TVDCCALPHA1 
Evalue:0 
Location:80-96IPR005445:TVDCCALPHA1 
Evalue:0 
Location:1566-1581IPR005445:TVDCCALPHA1 
Evalue:0 
Location:452-466IPR005445:TVDCCALPHA1 
Evalue:0 
Location:811-824
SequencesProtein: CAC1H_HUMAN (2353 aa)
mRNA: AJ420779 NM_001005407 NM_021098
Local Annotation
Synapse Ontology
transport of vesicles in the presynaptic neuron
sdb:0017 Mobilization: synapsins, CAM kinase I  (Evidence:keywords,domains)
?
sdb:0223 transmitter release  (Evidence:keywords,domains)
The action potential at the presynaptic region induces the opening of calcium channel, and the resulting calcium transient stimulates synaptic vesicle exocytosis.
sdb:0272 opening of Calcium channels  (Evidence:keywords,domains)
?
sdb:0328 transmitters release and endocytosis  (Evidence:keywords,domains)
KO assignmentK04855
  Level 3 annotation:
    calcium channel, voltage-dependent, T type, alpha 1H subunit
  Level 2 annotation:
    Calcium signaling pathway
    Ion channels
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 77 residues, 1143241-1143471Exon2: 107 residues, 1143720-1144037Exon3: 39 residues, 1184972-1185084Exon4: 46 residues, 1185432-1185566Exon5: 34 residues, 1185926-1186024Exon6: 55 residues, 1188615-1188775Exon7: 107 residues, 1190256-1190572Exon8: 33 residues, 1190716-1190809Exon9: 265 residues, 1191663-1192453Exon10: 151 residues, 1194010-1194459Exon11: 52 residues, 1195114-1195266Exon12: 64 residues, 1196104-1196290Exon13: 41 residues, 1197001-1197119Exon14: 54 residues, 1197275-1197431Exon15: 32 residues, 1197770-1197861Exon16: 71 residues, 1198013-1198222Exon17: 129 residues, 1199032-1199413Exon18: 35 residues, 1200035-1200136Exon19: 43 residues, 1200370-1200494Exon20: 25 residues, 1200583-1200652Exon21: 63 residues, 1200787-1200972Exon22: 44 residues, 1201168-1201295Exon23: 44 residues, 1201481-1201607Exon24: 32 residues, 1201716-1201806Exon25: 66 residues, 1201946-1202139Exon26: 8 residues, 1202511-1202529Exon27: 52 residues, 1203780-1203932Exon28: 38 residues, 1204972-1205082Exon29: 46 residues, 1205242-1205376Exon30: 25 residues, 1205523-1205594Exon31: 28 residues, 1206932-1207011Exon32: 42 residues, 1207919-1208041Exon33: 149 residues, 1208210-1208652Exon34: 55 residues, 1208970-1209131Exon35: 599 residues, 1209981-1211772Exon36: 2 residues, -Jump to CAC1H_HUMANExon1: 77 residues, 1143241-1143471Exon2: 107 residues, 1143720-1144037Exon3: 39 residues, 1184972-1185084Exon4: 46 residues, 1185432-1185566Exon5: 34 residues, 1185926-1186024Exon6: 55 residues, 1188615-1188775Exon7: 107 residues, 1190256-1190572Exon8: 33 residues, 1190716-1190809Exon9: 265 residues, 1191663-1192453Exon10: 151 residues, 1194010-1194459Exon11: 52 residues, 1195114-1195266Exon12: 64 residues, 1196104-1196290Exon13: 41 residues, 1197001-1197119Exon14: 54 residues, 1197275-1197431Exon15: 32 residues, 1197770-1197861Exon16: 71 residues, 1198013-1198222Exon17: 129 residues, 1199032-1199413Exon18: 35 residues, 1200035-1200136Exon19: 43 residues, 1200370-1200494Exon20: 25 residues, 1200583-1200652Exon21: 63 residues, 1200787-1200972Exon22: 44 residues, 1201168-1201295Exon23: 44 residues, 1201481-1201607Exon24: 32 residues, 1201716-1201806Exon25: 66 residues, 1201946-1202139Exon26: 52 residues, 1203780-1203932Exon27: 38 residues, 1204972-1205082Exon28: 46 residues, 1205242-1205376Exon29: 25 residues, 1205523-1205594Exon30: 28 residues, 1206932-1207011Exon31: 42 residues, 1207919-1208041Exon32: 149 residues, 1208210-1208652Exon33: 55 residues, 1208970-1209131Exon34: 599 residues, 1209981-1211772Exon35: 2 residues, -Jump to CAC1H_HUMANExon1: 100 residues, 1143738-1144037Exon2: 39 residues, 1184972-1185084Exon3: 46 residues, 1185432-1185566Exon4: 34 residues, 1185926-1186024Exon5: 55 residues, 1188615-1188775Exon6: 107 residues, 1190256-1190572Exon7: 33 residues, 1190716-1190809Exon8: 265 residues, 1191663-1192453Exon9: 151 residues, 1194010-1194459Exon10: 52 residues, 1195114-1195266Exon11: 64 residues, 1196104-1196290Exon12: 41 residues, 1197001-1197119Exon13: 54 residues, 1197275-1197431Exon14: 32 residues, 1197770-1197861Exon15: 71 residues, 1198013-1198222Exon16: 129 residues, 1199032-1199413Exon17: 35 residues, 1200035-1200136Exon18: 43 residues, 1200370-1200494Exon19: 25 residues, 1200583-1200652Exon20: 63 residues, 1200787-1200972Exon21: 44 residues, 1201168-1201295Exon22: 44 residues, 1201481-1201607Exon23: 32 residues, 1201716-1201806Exon24: 66 residues, 1201946-1202138Exon25: 53 residues, 1203779-1203932Exon26: 38 residues, 1204972-1205082Exon27: 46 residues, 1205242-1205376Exon28: 25 residues, 1205523-1205594Exon29: 28 residues, 1206932-1207011Exon30: 42 residues, 1207919-1208041Exon31: 149 residues, 1208210-1208652Exon32: 55 residues, 1208970-1209131Exon33: 340 residues, 1209981-1210995Exon34: 2 residues, -Jump to CAC1H_HUMAN  
Tune and view alternative isoforms
Loci Cluster (Details)Loci: 2909 387192-390754 ~-4K 13162(NME4)(+)Loci: 2910 415668-512481 ~-97K 13166(RAB11FIP3)(+)Loci: 2911 580179-619272 ~-39K 13173(RAB40C)(+)Loci: 4199 774975-778384 ~-3K 13216(-)Loci: 2912 1143241-1211772 ~-69K 13223(CACNA1H)(+)Loci: 2913 1324663-1339443 ~-15K 13234(BAIAP3)(+)Loci: 4200 1435345-1465013 ~-30K 13244(CLCN7)(-)Loci: 2914 1696221-1760318 ~-64K 13253(MAPK8IP3)(+)Loci: 2915 1979968-1984276 ~-4K 13288(SYNGR3)(+)Loci: 2916 2016896-2028484 ~-12K 13290(SLC9A3R2)(+)Loci: 2917 2038599-2078713 ~-40K 13294(TSC2)(+)Loci: 2918 2138651-2144141 ~-5K 13300(RAB26)(+)Loci: 4201 2167184-2186466 ~-19K 13303(CASKIN1)(-)Loci: 4198 357394-360541 ~-3K 13159(MRPL28)(-)Link out to UCSC