ID   CCAH_HUMAN     STANDARD;      PRT;  2353 AA.
AC   O95180; O95802; Q8WWI6; Q96QI6; Q96RZ9; Q9NYY4; Q9NYY5;
DT   15-JUL-1999 (Rel. 38, Created)
DT   28-FEB-2003 (Rel. 41, Last sequence update)
DT   10-OCT-2003 (Rel. 42, Last annotation update)
DE   Voltage-dependent T-type calcium channel alpha-1H subunit (Cav3.2)
DE   (Low-voltage-activated calcium channel alpha1 3.2 subunit).
GN   CACNA1H.
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   SEQUENCE FROM N.A. (ISOFORM 1).
RC   TISSUE=Heart;
RX   MEDLINE=98333998; PubMed=9670923;
RA   Cribbs L.L., Lee J.-H., Yang J., Satin J., Zhang Y., Daud A.N.,
RA   Barclay J., Wiliamson M.P., Fox M., Rees M., Perez-Reyes E.;
RT   "Cloning and characterization of alpha1H from human heart, a member
RT   of the T-type Ca2+ channel gene family.";
RL   Circ. Res. 83:103-109(1998).
RN   [2]
RP   REVISIONS.
RA   Cribbs L.L., Lee J.-H., Yang J., Daud A.N., Perez-Reyes E.;
RL   Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   SEQUENCE FROM N.A. (ISOFORM 1).
RC   TISSUE=Thyroid carcinoma;
RX   MEDLINE=99127945; PubMed=9930755;
RA   Williams M.E., Washburn M.S., Hans M., Urrutia A., Brust P.F.,
RA   Prodanovich P., Harpold M.M., Stauderman K.A.;
RT   "Structure and functional characterization of a novel human low-
RT   voltage activated calcium channel.";
RL   J. Neurochem. 72:791-799(1999).
RN   [4]
RP   SEQUENCE FROM N.A. (ISOFORM 1).
RX   MEDLINE=21096910; PubMed=11157797;
RA   Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K.,
RA   Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J.,
RA   Higgs D.R.;
RT   "Sequence, structure and pathology of the fully annotated terminal 2
RT   Mb of the short arm of human chromosome 16.";
RL   Hum. Mol. Genet. 10:339-352(2001).
RN   [5]
RP   SEQUENCE FROM N.A. (ISOFORM 2).
RC   TISSUE=Testis;
RX   MEDLINE=21864207; PubMed=11751928;
RA   Jagannathan S., Punt E.L., Gu Y., Arnoult C., Sakkas D., Barratt C.L.,
RA   Publicover S.J.;
RT   "Identification and localization of T-type voltage-operated calcium
RT   channel subunits in human male germ cells. Expression of multiple
RT   isoforms.";
RL   J. Biol. Chem. 277:8449-8456(2002).
RN   [6]
RP   SEQUENCE OF 86-817 FROM N.A.
RA   Cobley V.E.;
RL   Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases.
RN   [7]
RP   SEQUENCE OF 424-661 AND 838-2373 FROM N.A. (ISOFORM 1).
RA   Mittman S., Agnew W.S.;
RT   "Organization and alternative splicing of CACNA1H.";
RL   Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases.
CC   -!- FUNCTION: Voltage-sensitive calcium channels (VSCC) mediate the
CC       entry of calcium ions into excitable cells and are also involved
CC       in a variety of calcium-dependent processes, including muscle
CC       contraction, hormone or neurotransmitter release, gene expression,
CC       cell motility, cell division and cell death. The isoform alpha-1H
CC       gives rise to T-type calcium currents. T-type calcium channels
CC       belong to the "low-voltage activated (LVA)" group and are strongly
CC       blocked by nickel and mibefradil. A particularity of this type of
CC       channels is an opening at quite negative potentials, and a
CC       voltage-dependent inactivation. T-type channels serve pacemaking
CC       functions in both central neurons and cardiac nodal cells and
CC       support calcium signaling in secretory cells and vascular smooth
CC       muscle. They may also be involved in the modulation of firing
CC       patterns of neurons which is important for information processing
CC       as well as in cell growth processes.
CC   -!- SUBCELLULAR LOCATION: Integral membrane protein.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1; Synonyms=A1H-a;
CC         IsoId=O95180-1; Sequence=Displayed;
CC       Name=2; Synonyms=A1H-b;
CC         IsoId=O95180-2; Sequence=VSP_000949;
CC   -!- TISSUE SPECIFICITY: Expressed in kidney, liver, heart, brain.
CC       Isoform 2 seems to be testis-specific.
CC   -!- DOMAIN: Each of the four internal repeats contains five
CC       hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one
CC       positively charged transmembrane segment (S4). S4 segments
CC       probably represent the voltage-sensor and are characterized by a
CC       series of positively charged amino acids at every third position.
CC   -!- PTM: In response to raising of intracellular calcium, the T-type
CC       channels are activated by CaM-kinase II.
CC   -!- SIMILARITY: Belongs to the calcium channel alpha-1 subunits
CC       family.
CC   -!- CAUTION: AT-AC pre mRNA splicing gives rise to the isoform 1 shown
CC       in this entry. The additional 20 amino acids found in the Ref.4
CC       and Ref.6 sequences are due to a misunderstanding of the real type
CC       of splicing mechanism involved.
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DR   EMBL; AF051946; AAC67239.3; -.
DR   EMBL; AF073931; AAD17668.1; -.
DR   EMBL; AE006466; AAK61268.1; ALT_SEQ.
DR   EMBL; AJ420779; CAD12646.1; -.
DR   EMBL; AL031703; CAC42094.1; ALT_SEQ.
DR   EMBL; AF223562; AAF60162.1; -.
DR   EMBL; AF223563; AAF60163.1; -.
DR   Genew; HGNC:1395; CACNA1H.
DR   MIM; 607904; -.
DR   GO; GO:0005891; C:voltage-gated calcium channel complex; TAS.
DR   GO; GO:0008332; F:low voltage-gated calcium channel activity; TAS.
DR   GO; GO:0006936; P:muscle contraction; TAS.
DR   GO; GO:0007520; P:myoblast fusion; TAS.
DR   GO; GO:0008016; P:regulation of heart rate; TAS.
DR   GO; GO:0006810; P:transport; TAS.
DR   InterPro; IPR001682; Ca/Na_pore.
DR   InterPro; IPR002111; Cat_channel_TrpL.
DR   InterPro; IPR005821; Ion_trans.
DR   InterPro; IPR005820; M+channel_nlg.
DR   InterPro; IPR003915; PKD_2.
DR   InterPro; IPR005445; TVDCCAlpha1.
DR   Pfam; PF00520; Ion_trans; 4.
DR   PRINTS; PR01629; TVDCCALPHA1.
KW   Ionic channel; Transmembrane; Ion transport; Voltage-gated channel;
KW   Calcium channel; Glycoprotein; Repeat; Multigene family;
KW   Calcium-binding; Phosphorylation; Alternative splicing.
FT   REPEAT       87    422       I.
FT   REPEAT      779   1018       II.
FT   REPEAT     1281   1558       III.
FT   REPEAT     1602   1863       IV.
FT   DOMAIN        1    100       Cytoplasmic (Potential).
FT   TRANSMEM    101    119       S1 of repeat I (Potential).
FT   DOMAIN      120    139       Extracellular (Potential).
FT   TRANSMEM    140    160       S2 of repeat I (Potential).
FT   DOMAIN      161    169       Cytoplasmic (Potential).
FT   TRANSMEM    170    184       S3 of repeat I (Potential).
FT   DOMAIN      185    193       Extracellular (Potential).
FT   TRANSMEM    194    212       S4 of repeat I (Potential).
FT   DOMAIN      213    232       Cytoplasmic (Potential).
FT   TRANSMEM    233    253       S5 of repeat I (Potential).
FT   DOMAIN      254    394       Extracellular (Potential).
FT   TRANSMEM    395    419       S6 of repeat I (Potential).
FT   DOMAIN      420    793       Cytoplasmic (Potential).
FT   TRANSMEM    794    814       S1 of repeat II (Potential).
FT   DOMAIN      815    827       Extracellular (Potential).
FT   TRANSMEM    828    849       S2 of repeat II (Potential).
FT   DOMAIN      850    855       Cytoplasmic (Potential).
FT   TRANSMEM    856    874       S3 of repeat II (Potential).
FT   DOMAIN      875    882       Extracellular (Potential).
FT   TRANSMEM    883    906       S4 of repeat II (Potential).
FT   DOMAIN      907    917       Cytoplasmic (Potential).
FT   TRANSMEM    918    938       S5 of repeat II (Potential).
FT   DOMAIN      939    990       Extracellular (Potential).
FT   TRANSMEM    991   1015       S6 of repeat II (Potential).
FT   DOMAIN     1016   1290       Cytoplasmic (Potential).
FT   TRANSMEM   1291   1313       S1 of repeat III (Potential).
FT   DOMAIN     1314   1331       Extracellular (Potential).
FT   TRANSMEM   1332   1352       S2 of repeat III (Potential).
FT   DOMAIN     1353   1362       Cytoplasmic (Potential).
FT   TRANSMEM   1363   1382       S3 of repeat III (Potential).
FT   DOMAIN     1383   1396       Extracellular (Potential).
FT   TRANSMEM   1397   1418       S4 of repeat III (Potential).
FT   DOMAIN     1419   1428       Cytoplasmic (Potential).
FT   TRANSMEM   1429   1452       S5 of repeat III (Potential).
FT   DOMAIN     1453   1529       Extracellular (Potential).
FT   TRANSMEM   1530   1555       S6 of repeat III (Potential).
FT   DOMAIN     1556   1616       Cytoplasmic (Potential).
FT   TRANSMEM   1617   1637       S1 of repeat IV (Potential).
FT   DOMAIN     1638   1651       Extracellular (Potential).
FT   TRANSMEM   1652   1673       S2 of repeat IV (Potential).
FT   DOMAIN     1674   1680       Cytoplasmic (Potential).
FT   TRANSMEM   1681   1699       S3 of repeat IV (Potential).
FT   DOMAIN     1700   1713       Extracellular (Potential).
FT   TRANSMEM   1714   1737       S4 of repeat IV (Potential).
FT   DOMAIN     1738   1751       Cytoplasmic (Potential).
FT   TRANSMEM   1752   1772       S5 of repeat IV (Potential).
FT   DOMAIN     1773   1835       Extracellular (Potential).
FT   TRANSMEM   1836   1863       S6 of repeat IV (Potential).
FT   DOMAIN     1864   2353       Cytoplasmic (Potential).
FT   DOMAIN      520    530       Poly-His.
FT   DOMAIN     1107   1110       Poly-Ser.
FT   DOMAIN     1583   1586       Poly-Arg.
FT   SITE        378    378       Calcium ion selectivity and permeability
FT                                (By similarity).
FT   SITE        974    974       Calcium ion selectivity and permeability
FT                                (By similarity).
FT   SITE       1504   1504       Calcium ion selectivity and permeability
FT                                (By similarity).
FT   SITE       1808   1808       Calcium ion selectivity and permeability
FT                                (By similarity).
FT   CARBOHYD    192    192       N-linked (GlcNAc...) (Potential).
FT   CARBOHYD    271    271       N-linked (GlcNAc...) (Potential).
FT   CARBOHYD   1466   1466       N-linked (GlcNAc...) (Potential).
FT   VARSPLIC   1587   1592       Missing (in isoform 2).
FT                                /FTId=VSP_000949.
FT   CONFLICT      7      7       A -> S (in Ref. 4).
FT   CONFLICT     31     31       E -> K (in Ref. 4).
FT   CONFLICT     55     55       A -> S (in Ref. 4).
FT   CONFLICT     94     94       L -> V (in Ref. 4).
FT   CONFLICT    215    215       S -> T (in Ref. 6).
FT   CONFLICT    313    313       M -> V (in Ref. 4 and 6).
FT   CONFLICT    640    640       P -> L (in Ref. 7; AAF60162).
FT   CONFLICT    664    664       V -> A (in Ref. 1 and 5).
FT   CONFLICT   2060   2060       R -> H (in Ref. 4).
FT   CONFLICT   2077   2077       R -> H (in Ref. 3 and 7; AAF60163).
SQ   SEQUENCE   2353 AA;  259160 MW;  E13E270635173D98 CRC64;
     MTEGARAADE VRVPLGAPPP GPAALVGASP ESPGAPGREA ERGSELGVSP SESPAAERGA
     ELGADEEQRV PYPALAATVF FCLGQTTRPR SWCLRLVCNP WFEHVSMLVI MLNCVTLGMF
     RPCEDVECGS ERCNILEAFD AFIFAFFAVE MVIKMVALGL FGQKCYLGDT WNRLDFFIVV
     AGMMEYSLDG HNVSLSAIRT VRVLRPLRAI NRVPSMRILV TLLLDTLPML GNVLLLCFFV
     FFIFGIVGVQ LWAGLLRNRC FLDSAFVRNN NLTFLRPYYQ TEEGEENPFI CSSRRDNGMQ
     KCSHIPGRRE LRMPCTLGWE AYTQPQAEGV GAARNACINW NQYYNVCRSG DSNPHNGAIN
     FDNIGYAWIA IFQVITLEGW VDIMYYVMDA HSFYNFIYFI LLIIVGSFFM INLCLVVIAT
     QFSETKQRES QLMREQRARH LSNDSTLASF SEPGSCYEEL LKYVGHIFRK VKRRSLRLYA
     RWQSRWRKKV DPSAVQGQGP GHRQRRAGRH TASVHHLVYH HHHHHHHHYH FSHGSPRRPG
     PEPGACDTRL VRAGAPPSPP SPGRGPPDAE SVHSIYHADC HIEGPQERAR VAHAAATAAA
     SLRLATGLGT MNYPTILPSG VGSGKGSTSP GPKGKWAGGP PGTGGHGPLS LNSPDPYEKI
     PHVVGEHGLG QAPGHLSGLS VPCPLPSPPA GTLTCELKSC PYCTRALEDP EGELSGSESG
     DSDGRGVYEF TQDVRHGDRW DPTRPPRATD TPGPGPGSPQ RRAQQRAAPG EPGWMGRLWV
     TFSGKLRRIV DSKYFSRGIM MAILVNTLSM GVEYHEQPEE LTNALEISNI VFTSMFALEM
     LLKLLACGPL GYIRNPYNIF DGIIVVISVW EIVGQADGGL SVLRTFRLLR VLKLVRFLPA
     LRRQLVVLVK TMDNVATFCT LLMLFIFIFS ILGMHLFGCK FSLKTDTGDT VPDRKNFDSL
     LWAIVTVFQI LTQEDWNVVL YNGMASTSSW AALYFVALMT FGNYVLFNLL VAILVEGFQA
     EGDANRSDTD EDKTSVHFEE DFHKLRELQT TELKMCSLAV TPNGHLEGRG SLSPPLIMCT
     AATPMPTPKS SPFLDAAPSL PDSRRGSSSS GDPPLGDQKP PASLRSSPCA PWGPSGAWSS
     RRSSWSSLGR APSLKRRGQC GERESLLSGE GKGSTDDEAE DGRAAPGPRA TPLRRAESLD
     PRPLRPAALP PTKCRDRDGQ VVALPSDFFL RIDSHREDAA ELDDDSEDSC CLRLHKVLEP
     YKPQWCRSRE AWALYLFSPQ NRFRVSCQKV ITHKMFDHVV LVFIFLNCVT IALERPDIDP
     GSTERVFLSV SNYIFTAIFV AEMMVKVVAL GLLSGEHAYL QSSWNLLDGL LVLVSLVDIV
     VAMASAGGAK ILGVLRVLRL LRTLRPLRVI SRAPGLKLVV ETLISSLRPI GNIVLICCAF
     FIIFGILGVQ LFKGKFYYCE GPDTRNISTK AQCRAAHYRW VRRKYNFDNL GQALMSLFVL
     SSKDGWVNIM YDGLDAVGVD QQPVQNHNPW MLLYFISFLL IVSFFVLNMF VGVVVENFHK
     CRQHQEAEEA RRREEKRLRR LERRRRSTFP SPEAQRRPYY ADYSPTRRSI HSLCTSHYLD
     LFITFIICVN VITMSMEHYN QPKSLDEALK YCNYVFTIVF VFEAALKLVA FGFRRFFKDR
     WNQLDLAIVL LSLMGITLEE IEMSAALPIN PTIIRIMRVL RIARVLKLLK MATGMRALLD
     TVVQALPQVG NLGLLFMLLF FIYAALGVEL FGRLECSEDN PCEGLSRHAT FSNFGMAFLT
     LFRVSTGDNW NGIMKDTLRE CSREDKHCLS YLPALSPVYF VTFVLVAQFV LVNVVVAVLM
     KHLEESNKEA REDAELDAEI ELEMAQGPGS ARRVDADRPP LPQESPGARD APNLVARKVS
     VSRMLSLPND SYMFRPVVPA SAPHPRPLQE VEMETYGAGT PLGSVASVHS PPAESCASLQ
     IPLAVSSPAR SGEPLHALSP RGTARSPSLS RLLCRQEAVH TDSLEGKIDS PRDTLDPAEP
     GEKTPVRPVT QGGSLQSPPR SPRPASVRTR KHTFGQRCVS SRPAAPGGEE AEASDPADEE
     VSHITSSACP WQPTAEPHGP EASPVAGGER DLRRLYSVDA QGFLDKPGRA DEQWRPSAEL
     GSGEPGEAKA WGPEAEPALG ARRKKKMSPP CISVEPPAED EGSARPSAAE GGSTTLRRRT
     PSCEATPHRD SLEPTEGSGA GGDPAAKGER WGQASCRAEH LTVPSFAFEP LDLGVPSGDP
     FLDGSHSVTP ESRASSSGAI VPLEPPESEP PMPVGDPPEK RRGLYLTVPQ CPLEKPGSPS
     ATPAPGGGAD DPV
//