Reviewed, UniProtKB/Swiss-Prot O00555 (CAC1A_HUMAN)

Names and origin

Protein names

Recommended name:
    Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Alternative name(s):
    Voltage-gated calcium channel subunit alpha Cav2.1
    Calcium channel, L type, alpha-1 polypeptide isoform 4
    Brain calcium channel I
      Short name=BI

Gene names

Name:	CACNA1A
Synonyms:	CACH4, CACN3, CACNL1A4

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	2505 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (Comments)

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-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by the funnel toxin (Ftx) and by the omega-agatoxin-IVA (omega-Aga-IVA). They are however insensitive to dihydropyridines (DHP), and omega-conotoxin-GVIA (omega-CTx-GVIA).
Subunit structure	Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interact (via C-terminal CDB motif) with CABP1 in the pre- and postsynaptic membranes.
Subcellular location	Membrane; Multi-pass membrane protein.
Tissue specificity	Brain specific; mainly found in cerebellum, cerebral cortex, thalamus and hypothalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in heart, kidney, liver or muscle. Purkinje cells contain predominantly P-type VSCC, the Q-type being a prominent calcium current in cerebellar granule cells. Ref.6
Domain	Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.
Polymorphism	The poly-Gln region of CACNA1A is polymorphic: 6 to 17 repeats in the normal population, expanded to about 21 to 30 repeats in SCA6. Repeat expansion has been reported also in a EA2 family.
Involvement in disease	Defects in CACNA1A are the cause of spinocerebellar ataxia type 6 (SCA6) [MIM:183086]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA6 is mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder. Ref.3 Ref.10 Ref.11 Defects in CACNA1A are the cause of familial hemiplegic migraine (FHM) [MIM:141500]; also known as migraine familial hemiplegic 1 (MHP1). FHM, a rare autosomal dominant subtype of migraine with aura, is associated with ictal hemiparesis and, in some families, progressive cerebellar atrophy. Ref.2 Ref.13 Ref.14 Ref.16 Ref.20 Defects in CACNA1A are the cause of episodic ataxia type 2 (EA2) [MIM:108500]; also known as acetazolamide-responsive hereditary paroxysmal cerebellar ataxia (APCA). EA2 is an autosomal dominant disorder characterized by acetozolamide-responsive attacks of ataxia, migraine-like symptoms, interictal nystagmus, and cerebellar atrophy. Ref.11 Ref.2 Ref.12 Ref.15 Ref.17 Ref.18 Ref.19 Ref.21 Ref.22
Sequence similarities	Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. [View classification]

Ontologies

Keywords
Biological process	Calcium transport Ion transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism Triplet repeat expansion
Disease	Disease mutation Neurodegeneration Spinocerebellar ataxia
Domain	Repeat Transmembrane
Ligand	Calcium
Molecular function	Calcium channel Ionic channel Voltage-gated channel
PTM	Disulfide bond Glycoprotein Phosphoprotein
Technical term	3D-structure Complete proteome
Gene Ontology (GO)
Biological process	calcium ion transport Inferred from electronic annotation. Source: UniProtKB-KW cell death Inferred from direct assay. Source: UniProtKB elevation of cytosolic calcium ion concentration Inferred from sequence or structural similarity. Source: UniProtKB transmembrane transport Inferred from electronic annotation. Source: InterPro
Cellular component	cytoplasm Inferred from direct assay. Source: UniProtKB nucleus Inferred from direct assay. Source: UniProtKB
Molecular function	calcium ion binding Inferred from electronic annotation. Source: UniProtKB-KW syntaxin binding Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 7 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: O00555-1)

Also known as: 1A-1; BI-1-GGCAG;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: O00555-2)

Also known as: 1A-2,BI-1;

The sequence of this isoform differs from the canonical sequence as follows:
     2262-2505: Missing.

Isoform 3 (identifier: O00555-3)

Also known as: BI-1(V1);

The sequence of this isoform differs from the canonical sequence as follows:
     1844-1875: WGRMPYLDMYQMLRHMSPPLGLGKKCPARVAY → CGRIHYKDMYSLLRVISPPLGLGKKCPHRVAC
     2262-2505: Missing.

Isoform 4 (identifier: O00555-4)

Also known as: BI-1(V1)-GGCAG;

The sequence of this isoform differs from the canonical sequence as follows:
     1844-1875: WGRMPYLDMYQMLRHMSPPLGLGKKCPARVAY → CGRIHYKDMYSLLRVISPPLGLGKKCPHRVAC

Isoform 5 (identifier: O00555-5)

Also known as: BI-1(V2);

The sequence of this isoform differs from the canonical sequence as follows:
     2103-2114: Missing.
     2262-2505: Missing.

Isoform 6 (identifier: O00555-6)

Also known as: BI-1(V2)-GGCAG;

The sequence of this isoform differs from the canonical sequence as follows:
     2103-2114: Missing.

Isoform 7 (identifier: O00555-7)

Also known as: BI-1(V2,V3);

The sequence of this isoform differs from the canonical sequence as follows:
     2220-2240: HPPPPDKDRYAQERPDHGRAR → RFLCFFFPFFLPCLKTVGLGL
     2241-2505: Missing.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 2505

2505

Voltage-dependent P/Q-type calcium channel subunit alpha-1A

PRO_0000053916

Regions

Topological domain

1 – 98

98

Cytoplasmic Potential

Transmembrane

99 – 117

19

S1 of repeat I Potential

Topological domain

118 – 135

18

Extracellular Potential

Transmembrane

136 – 155

20

S2 of repeat I Potential

Topological domain

156 – 167

12

Cytoplasmic Potential

Transmembrane

168 – 185

18

S3 of repeat I Potential

Topological domain

186 – 190

5

Extracellular Potential

Transmembrane

191 – 209

19

S4 of repeat I Potential

Topological domain

210 – 228

19

Cytoplasmic Potential

Transmembrane

229 – 248

20

S5 of repeat I Potential

Topological domain

249 – 335

87

Extracellular Potential

Transmembrane

336 – 360

25

S6 of repeat I Potential

Topological domain

361 – 487

127

Cytoplasmic Potential

Transmembrane

488 – 506

19

S1 of repeat II Potential

Topological domain

507 – 521

15

Extracellular Potential

Transmembrane

522 – 541

20

S2 of repeat II Potential

Topological domain

542 – 549

8

Cytoplasmic Potential

Transmembrane

550 – 568

19

S3 of repeat II Potential

Topological domain

569 – 578

10

Extracellular Potential

Transmembrane

579 – 597

19

S4 of repeat II Potential

Topological domain

598 – 616

19

Cytoplasmic Potential

Transmembrane

617 – 636

20

S5 of repeat II Potential

Topological domain

637 – 689

53

Extracellular Potential

Transmembrane

690 – 714

25

S6 of repeat II Potential

Topological domain

715 – 1242

528

Cytoplasmic Potential

Transmembrane

1243 – 1261

19

S1 of repeat III Potential

Topological domain

1262 – 1277

16

Extracellular Potential

Transmembrane

1278 – 1297

20

S2 of repeat III Potential

Topological domain

1298 – 1309

12

Cytoplasmic Potential

Transmembrane

1310 – 1328

19

S3 of repeat III Potential

Topological domain

1329 – 1339

11

Extracellular Potential

Transmembrane

1340 – 1358

19

S4 of repeat III Potential

Topological domain

1359 – 1377

19

Cytoplasmic Potential

Transmembrane

1378 – 1397

20

S5 of repeat III Potential

Topological domain

1398 – 1484

87

Extracellular Potential

Transmembrane

1485 – 1509

25

S6 of repeat III Potential

Topological domain

1510 – 1564

55

Cytoplasmic Potential

Transmembrane

1565 – 1593

29

S1 of repeat IV Potential

Topological domain

1594 – 1598

5

Extracellular Potential

Transmembrane

1599 – 1618

20

S2 of repeat IV Potential

Topological domain

1619 – 1626

8

Cytoplasmic Potential

Transmembrane

1627 – 1645

19

S3 of repeat IV Potential

Topological domain

1646 – 1652

7

Extracellular Potential

Transmembrane

1653 – 1671

19

S4 of repeat IV Potential

Topological domain

1672 – 1690

19

Cytoplasmic Potential

Transmembrane

1691 – 1710

20

S5 of repeat IV Potential

Topological domain

1711 – 1782

72

Extracellular Potential

Transmembrane

1783 – 1807

25

S6 of repeat IV Potential

Topological domain

1808 – 2505

698

Cytoplasmic Potential

Repeat

85 – 363

279

I

Repeat

473 – 717

245

II

Repeat

1231 – 1514

284

III

Repeat

1551 – 1814

264

IV

Calcium binding

1840 – 1851

12

By similarity

Region

383 – 400

18

Binding to the beta subunit By similarity

Compositional bias

13 – 18

6

Poly-Gly

Compositional bias

727 – 732

6

Poly-Glu

Compositional bias

1002 – 1007

6

Poly-Arg

Compositional bias

1204 – 1207

4

Poly-Glu

Compositional bias

2211 – 2220

10

Poly-His

Compositional bias

2221 – 2224

4

Poly-Pro

Compositional bias

2314 – 2324

11

Poly-Gln

Sites

Site

318

1

Calcium ion selectivity and permeability By similarity

Site

668

1

Calcium ion selectivity and permeability By similarity

Site

1460

1

Calcium ion selectivity and permeability By similarity

Site

1756

1

Calcium ion selectivity and permeability By similarity

Amino acid modifications

Modified residue

750

1

Phosphoserine By similarity

Modified residue

1822

1

Phosphoserine; by PKA Potential

Modified residue

2030

1

Phosphoserine By similarity

Modified residue

2076

1

Phosphotyrosine By similarity

Modified residue

2269

1

Phosphoserine By similarity

Modified residue

2378

1

Phosphoserine By similarity

Glycosylation

283

1

N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence

1844 – 1875

32

WGRMP…ARVAY → CGRIHYKDMYSLLRVISPPL GLGKKCPHRVAC in isoform 3 and isoform 4.

VSP_000871

Alternative sequence

2103 – 2114

12

Missing in isoform 5 and isoform 6.

VSP_000872

Alternative sequence

2220 – 2240

21

HPPPP…HGRAR → RFLCFFFPFFLPCLKTVGLG L in isoform 7.

VSP_000873

Alternative sequence

2241 – 2505

265

Missing in isoform 7.

VSP_000874

Alternative sequence

2262 – 2505

244

Missing in isoform 2, isoform 3 and isoform 5.

VSP_000875

Natural variant

21

1

A → V: dbSNP rs15999.

VAR_014456

Natural variant

192

1

R → Q in FHM.

VAR_001491

Natural variant

195

1

R → K in FHM. Ref.16

VAR_043820

Natural variant

218

1

S → L in FHM. Ref.14

VAR_043821

Natural variant

253

1

H → Y in EA2. Ref.18

VAR_043822

Natural variant

256

1

C → R in EA2. Ref.21

VAR_043823

Natural variant

287

1

C → Y in EA2. Ref.22

VAR_043824

Natural variant

293

1

G → R in EA2 and SCA6. Ref.10 Ref.22

VAR_043825

Natural variant

583

1

R → Q in FHM. Ref.16

VAR_043826

Natural variant

666

1

T → M in FHM and EA2. Ref.16 Ref.22

VAR_001492

Natural variant

714

1

V → A in FHM.

VAR_001493

Natural variant

715

1

D → E in FHM. Ref.16

VAR_043827

Natural variant

732

1

E → A: dbSNP rs16019.

VAR_059221

Natural variant

914

1

P → S: dbSNP rs16020.

VAR_014458

Natural variant

918

1

E → D: dbSNP rs16022.

VAR_014459

Natural variant

993

1

E → V: dbSNP rs16023. Ref.13

VAR_043828

Natural variant

1015

1

E → K: dbSNP rs16024.

VAR_014461

Natural variant

1105

1

G → S: dbSNP rs16027.

VAR_014462

Natural variant

1173

1

P → L: dbSNP rs16028.

VAR_059222

Natural variant

1335

1

K → E in FHM. Ref.16

VAR_043829

Natural variant

1346

1

R → Q in FHM; with progressive cerebellar ataxia. Ref.20

VAR_043830

Natural variant

1384

1

Y → C in FHM. Ref.16

VAR_043831

Natural variant

1404

1

F → C in EA2; loss of function. Ref.17

VAR_043832

Natural variant

1456

1

V → L in FHM. Ref.13

VAR_043833

Natural variant

1482

1

G → R in EA2. Ref.21

VAR_043834

Natural variant

1490

1

F → S in EA2. Ref.21

VAR_043835

Natural variant

1493

1

V → I in EA2. Ref.21

VAR_043836

Natural variant

1661

1

R → H in EA2. Ref.12

VAR_043837

Natural variant

1667

1

R → W in FHM. Ref.16

VAR_043838

Natural variant

1683

1

W → R in FHM. Ref.16

VAR_043839

Natural variant

1736

1

H → L in EA2. Ref.19

VAR_043840

Natural variant

1756

1

E → K in EA2. Ref.15

VAR_043841

Natural variant

1810

1

I → L in FHM.

VAR_001494

Natural variant

2135

1

R → C in EA2. Ref.21

VAR_043842

Natural variant

2394

1

P → S: dbSNP rs16056.

VAR_014463

Experimental info

Sequence conflict

725

1

K → KVEA in AAB61613. Ref.1

Sequence conflict

725

1

K → KVEA in AAB61612. Ref.1

Sequence conflict

896

1

G → D in CAA68172. Ref.2

Sequence conflict

1207

1

E → EE in CAA68172. Ref.2

Sequence conflict

1313 – 1315

3

WNI → ILP in AAB49674. Ref.3

Sequence conflict

1313 – 1315

3

WNI → ILP in AAB49675. Ref.3

Sequence conflict

1313 – 1315

3

WNI → ILP in AAB49676. Ref.3

Sequence conflict

1313 – 1315

3

WNI → ILP in AAB49677. Ref.3

Sequence conflict

1313 – 1315

3

WNI → ILP in AAB49678. Ref.3

Sequence conflict

1459

1

G → A in CAA68172. Ref.2

Sequence conflict

1604

1

V → A in CAA68172. Ref.2

Sequence conflict

1617

1

V → A in CAA68172. Ref.2

Sequence conflict

1651

1

G → GNP in AAB61613. Ref.1

Sequence conflict

1651

1

G → GNP in AAB61612. Ref.1

Sequence conflict

1693

1

P → A in AAB33068. Ref.5

Sequence conflict

2038

1

E → G in U06702. Ref.7

Sequence conflict

2314

1

Q → QQ in AAB49676. Ref.3

Secondary structure

1

.

.

.

2505

Helix Strand Turn

Details...

Helix

1956 – 1970

15

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (1A-1) (BI-1-GGCAG) [UniParc]. Last modified July 15, 1999. Version 2. Checksum: 2F2F378ACE02FD56	FASTA	2,505	282,365
	10 20 30 40 50 60 MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA 70 80 90 100 110 120 LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH 130 140 150 160 170 180 LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG 190 200 210 220 230 240 ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF 250 260 270 280 290 300 AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ 310 320 330 340 350 360 FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS 370 380 390 400 410 420 GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDGA 430 440 450 460 470 480 LRRTTIKKSK TDLLNPEEAE DQLADIASVG SPFARASIKS AKLENSTFFH KKERRMRFYI 490 500 510 520 530 540 RRMVKTQAFY WTVLSLVALN TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG 550 560 570 580 590 600 LGTRPYFHSS FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL 610 620 630 640 650 660 RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN FDTFPAAIMT 670 680 690 700 710 720 VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF GNYTLLNVFL AIAVDNLANA 730 740 750 760 770 780 QELTKDEQEE EEAANQKLAL QKAKEVAEVS PLSAANMSIA VKEQQKNQKP AKSVWEQRTS 790 800 810 820 830 840 EMRKQNLLAS REALYNEMDP DERWKAAYTR HLRPDMKTHL DRPLVVDPQE NRNNNTNKSR 850 860 870 880 890 900 AAEPTVDQRL GQQRAEDFLR KQARYHDRAR DPSGSAGLDA RRPWAGSQEA ELSREGPYGR 910 920 930 940 950 960 ESDHHAREGS LEQPGFWEGE AERGKAGDPH RRHVHRQGGS RESRSGSPRT GADGEHRRHR 970 980 990 1000 1010 1020 AHRRPGEEGP EDKAERRARH REGSRPARGG EGEGEGPDGG ERRRRHRHGA PATYEGDARR 1030 1040 1050 1060 1070 1080 EDKERRHRRR KENQGSGVPV SGPNLSTTRP IQQDLGRQDP PLAEDIDNMK NNKLATAESA 1090 1100 1110 1120 1130 1140 APHGSLGHAG LPQSPAKMGN STDPGPMLAI PAMATNPQNA ASRRTPNNPG NPSNPGPPKT 1150 1160 1170 1180 1190 1200 PENSLIVTNP SGTQTNSAKT ARKPDHTTVD IPPACPPPLN HTVVQVNKNA NPDPLPKKEE 1210 1220 1230 1240 1250 1260 EKKEEEEDDR GEDGPKPMPP YSSMFILSTT NPLRRLCHYI LNLRYFEMCI LMVIAMSSIA 1270 1280 1290 1300 1310 1320 LAAEDPVQPN APRNNVLRYF DYVFTGVFTF EMVIKMIDLG LVLHQGAYFR DLWNILDFIV 1330 1340 1350 1360 1370 1380 VSGALVAFAF TGNSKGKDIN TIKSLRVLRV LRPLKTIKRL PKLKAVFDCV VNSLKNVFNI 1390 1400 1410 1420 1430 1440 LIVYMLFMFI FAVVAVQLFK GKFFHCTDES KEFEKDCRGK YLLYEKNEVK ARDREWKKYE 1450 1460 1470 1480 1490 1500 FHYDNVLWAL LTLFTVSTGE GWPQVLKHSV DATFENQGPS PGYRMEMSIF YVVYFVVFPF 1510 1520 1530 1540 1550 1560 FFVNIFVALI IITFQEQGDK MMEEYSLEKN ERACIDFAIS AKPLTRHMPQ NKQSFQYRMW 1570 1580 1590 1600 1610 1620 QFVVSPPFEY TIMAMIALNT IVLMMKFYGA SVAYENALRV FNIVFTSLFS LECVLKVMAF 1630 1640 1650 1660 1670 1680 GILNYFRDAW NIFDFVTVLG SITDILVTEF GNNFINLSFL RLFRAARLIK LLRQGYTIRI 1690 1700 1710 1720 1730 1740 LLWTFVQSFK ALPYVCLLIA MLFFIYAIIG MQVFGNIGID VEDEDSDEDE FQITEHNNFR 1750 1760 1770 1780 1790 1800 TFFQALMLLF RSATGEAWHN IMLSCLSGKP CDKNSGILTR ECGNEFAYFY FVSFIFLCSF 1810 1820 1830 1840 1850 1860 LMLNLFVAVI MDNFEYLTRD SSILGPHHLD EYVRVWAEYD PAAWGRMPYL DMYQMLRHMS 1870 1880 1890 1900 1910 1920 PPLGLGKKCP ARVAYKRLLR MDLPVADDNT VHFNSTLMAL IRTALDIKIA KGGADKQQMD 1930 1940 1950 1960 1970 1980 AELRKEMMAI WPNLSQKTLD LLVTPHKSTD LTVGKIYAAM MIMEYYRQSK AKKLQAMREE 1990 2000 2010 2020 2030 2040 QDRTPLMFQR MEPPSPTQEG GPGQNALPST QLDPGGALMA HESGLKESPS WVTQRAQEMF 2050 2060 2070 2080 2090 2100 QKTGTWSPEQ GPPTDMPNSQ PNSQSVEMRE MGRDGYSDSE HYLPMEGQGR AASMPRLPAE 2110 2120 2130 2140 2150 2160 NQRRRGRPRG NNLSTISDTS PMKRSASVLG PKARRLDDYS LERVPPEENQ RHHQRRRDRS 2170 2180 2190 2200 2210 2220 HRASERSLGR YTDVDTGLGT DLSMTTQSGD LPSKERDQER GRPKDRKHRQ HHHHHHHHHH 2230 2240 2250 2260 2270 2280 PPPPDKDRYA QERPDHGRAR ARDQRWSRSP SEGREHMAHR QGSSSVSGSP APSTSGTSTP 2290 2300 2310 2320 2330 2340 RRGRRQLPQT PSTPRPHVSY SPVIRKAGGS GPPQQQQQQQ QQQQAVARPG RAATSGPRRY 2350 2360 2370 2380 2390 2400 PGPTAEPLAG DRPPTGGHSS GRSPRMERRV PGPARSESPR ACRHGGARWP ASGPHVSEGP 2410 2420 2430 2440 2450 2460 PGPRHHGYYR GSDYDEADGP GSGGGEEAMA GAYDAPPPVR HASSGATGRS PRTPRASGPA 2470 2480 2490 2500 CASPSRHGRR LPNGYYPAHG LARPRGPGSR KGLHEPYSES DDDWC
	Isoform 2 (1A-2,BI-1). Checksum: 08A864BB400F218B	FASTA	2,261	256,932
	10 20 30 40 50 60 MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA 70 80 90 100 110 120 LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH 130 140 150 160 170 180 LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG 190 200 210 220 230 240 ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF 250 260 270 280 290 300 AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ 310 320 330 340 350 360 FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS 370 380 390 400 410 420 GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDGA 430 440 450 460 470 480 LRRTTIKKSK TDLLNPEEAE DQLADIASVG SPFARASIKS AKLENSTFFH KKERRMRFYI 490 500 510 520 530 540 RRMVKTQAFY WTVLSLVALN TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG 550 560 570 580 590 600 LGTRPYFHSS FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL 610 620 630 640 650 660 RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN FDTFPAAIMT 670 680 690 700 710 720 VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF GNYTLLNVFL AIAVDNLANA 730 740 750 760 770 780 QELTKDEQEE EEAANQKLAL QKAKEVAEVS PLSAANMSIA VKEQQKNQKP AKSVWEQRTS 790 800 810 820 830 840 EMRKQNLLAS REALYNEMDP DERWKAAYTR HLRPDMKTHL DRPLVVDPQE NRNNNTNKSR 850 860 870 880 890 900 AAEPTVDQRL GQQRAEDFLR KQARYHDRAR DPSGSAGLDA RRPWAGSQEA ELSREGPYGR 910 920 930 940 950 960 ESDHHAREGS LEQPGFWEGE AERGKAGDPH RRHVHRQGGS RESRSGSPRT GADGEHRRHR 970 980 990 1000 1010 1020 AHRRPGEEGP EDKAERRARH REGSRPARGG EGEGEGPDGG ERRRRHRHGA PATYEGDARR 1030 1040 1050 1060 1070 1080 EDKERRHRRR KENQGSGVPV SGPNLSTTRP IQQDLGRQDP PLAEDIDNMK NNKLATAESA 1090 1100 1110 1120 1130 1140 APHGSLGHAG LPQSPAKMGN STDPGPMLAI PAMATNPQNA ASRRTPNNPG NPSNPGPPKT 1150 1160 1170 1180 1190 1200 PENSLIVTNP SGTQTNSAKT ARKPDHTTVD IPPACPPPLN HTVVQVNKNA NPDPLPKKEE 1210 1220 1230 1240 1250 1260 EKKEEEEDDR GEDGPKPMPP YSSMFILSTT NPLRRLCHYI LNLRYFEMCI LMVIAMSSIA 1270 1280 1290 1300 1310 1320 LAAEDPVQPN APRNNVLRYF DYVFTGVFTF EMVIKMIDLG LVLHQGAYFR DLWNILDFIV 1330 1340 1350 1360 1370 1380 VSGALVAFAF TGNSKGKDIN TIKSLRVLRV LRPLKTIKRL PKLKAVFDCV VNSLKNVFNI 1390 1400 1410 1420 1430 1440 LIVYMLFMFI FAVVAVQLFK GKFFHCTDES KEFEKDCRGK YLLYEKNEVK ARDREWKKYE 1450 1460 1470 1480 1490 1500 FHYDNVLWAL LTLFTVSTGE GWPQVLKHSV DATFENQGPS PGYRMEMSIF YVVYFVVFPF 1510 1520 1530 1540 1550 1560 FFVNIFVALI IITFQEQGDK MMEEYSLEKN ERACIDFAIS AKPLTRHMPQ NKQSFQYRMW 1570 1580 1590 1600 1610 1620 QFVVSPPFEY TIMAMIALNT IVLMMKFYGA SVAYENALRV FNIVFTSLFS LECVLKVMAF 1630 1640 1650 1660 1670 1680 GILNYFRDAW NIFDFVTVLG SITDILVTEF GNNFINLSFL RLFRAARLIK LLRQGYTIRI 1690 1700 1710 1720 1730 1740 LLWTFVQSFK ALPYVCLLIA MLFFIYAIIG MQVFGNIGID VEDEDSDEDE FQITEHNNFR 1750 1760 1770 1780 1790 1800 TFFQALMLLF RSATGEAWHN IMLSCLSGKP CDKNSGILTR ECGNEFAYFY FVSFIFLCSF 1810 1820 1830 1840 1850 1860 LMLNLFVAVI MDNFEYLTRD SSILGPHHLD EYVRVWAEYD PAAWGRMPYL DMYQMLRHMS 1870 1880 1890 1900 1910 1920 PPLGLGKKCP ARVAYKRLLR MDLPVADDNT VHFNSTLMAL IRTALDIKIA KGGADKQQMD 1930 1940 1950 1960 1970 1980 AELRKEMMAI WPNLSQKTLD LLVTPHKSTD LTVGKIYAAM MIMEYYRQSK AKKLQAMREE 1990 2000 2010 2020 2030 2040 QDRTPLMFQR MEPPSPTQEG GPGQNALPST QLDPGGALMA HESGLKESPS WVTQRAQEMF 2050 2060 2070 2080 2090 2100 QKTGTWSPEQ GPPTDMPNSQ PNSQSVEMRE MGRDGYSDSE HYLPMEGQGR AASMPRLPAE 2110 2120 2130 2140 2150 2160 NQRRRGRPRG NNLSTISDTS PMKRSASVLG PKARRLDDYS LERVPPEENQ RHHQRRRDRS 2170 2180 2190 2200 2210 2220 HRASERSLGR YTDVDTGLGT DLSMTTQSGD LPSKERDQER GRPKDRKHRQ HHHHHHHHHH 2230 2240 2250 2260 PPPPDKDRYA QERPDHGRAR ARDQRWSRSP SEGREHMAHR Q
	Isoform 3 (BI-1(V1)). Checksum: 41408D8C7EB70094	FASTA	2,261	256,777
	10 20 30 40 50 60 MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA 70 80 90 100 110 120 LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH 130 140 150 160 170 180 LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG 190 200 210 220 230 240 ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF 250 260 270 280 290 300 AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ 310 320 330 340 350 360 FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS 370 380 390 400 410 420 GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDGA 430 440 450 460 470 480 LRRTTIKKSK TDLLNPEEAE DQLADIASVG SPFARASIKS AKLENSTFFH KKERRMRFYI 490 500 510 520 530 540 RRMVKTQAFY WTVLSLVALN TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG 550 560 570 580 590 600 LGTRPYFHSS FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL 610 620 630 640 650 660 RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN FDTFPAAIMT 670 680 690 700 710 720 VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF GNYTLLNVFL AIAVDNLANA 730 740 750 760 770 780 QELTKDEQEE EEAANQKLAL QKAKEVAEVS PLSAANMSIA VKEQQKNQKP AKSVWEQRTS 790 800 810 820 830 840 EMRKQNLLAS REALYNEMDP DERWKAAYTR HLRPDMKTHL DRPLVVDPQE NRNNNTNKSR 850 860 870 880 890 900 AAEPTVDQRL GQQRAEDFLR KQARYHDRAR DPSGSAGLDA RRPWAGSQEA ELSREGPYGR 910 920 930 940 950 960 ESDHHAREGS LEQPGFWEGE AERGKAGDPH RRHVHRQGGS RESRSGSPRT GADGEHRRHR 970 980 990 1000 1010 1020 AHRRPGEEGP EDKAERRARH REGSRPARGG EGEGEGPDGG ERRRRHRHGA PATYEGDARR 1030 1040 1050 1060 1070 1080 EDKERRHRRR KENQGSGVPV SGPNLSTTRP IQQDLGRQDP PLAEDIDNMK NNKLATAESA 1090 1100 1110 1120 1130 1140 APHGSLGHAG LPQSPAKMGN STDPGPMLAI PAMATNPQNA ASRRTPNNPG NPSNPGPPKT 1150 1160 1170 1180 1190 1200 PENSLIVTNP SGTQTNSAKT ARKPDHTTVD IPPACPPPLN HTVVQVNKNA NPDPLPKKEE 1210 1220 1230 1240 1250 1260 EKKEEEEDDR GEDGPKPMPP YSSMFILSTT NPLRRLCHYI LNLRYFEMCI LMVIAMSSIA 1270 1280 1290 1300 1310 1320 LAAEDPVQPN APRNNVLRYF DYVFTGVFTF EMVIKMIDLG LVLHQGAYFR DLWNILDFIV 1330 1340 1350 1360 1370 1380 VSGALVAFAF TGNSKGKDIN TIKSLRVLRV LRPLKTIKRL PKLKAVFDCV VNSLKNVFNI 1390 1400 1410 1420 1430 1440 LIVYMLFMFI FAVVAVQLFK GKFFHCTDES KEFEKDCRGK YLLYEKNEVK ARDREWKKYE 1450 1460 1470 1480 1490 1500 FHYDNVLWAL LTLFTVSTGE GWPQVLKHSV DATFENQGPS PGYRMEMSIF YVVYFVVFPF 1510 1520 1530 1540 1550 1560 FFVNIFVALI IITFQEQGDK MMEEYSLEKN ERACIDFAIS AKPLTRHMPQ NKQSFQYRMW 1570 1580 1590 1600 1610 1620 QFVVSPPFEY TIMAMIALNT IVLMMKFYGA SVAYENALRV FNIVFTSLFS LECVLKVMAF 1630 1640 1650 1660 1670 1680 GILNYFRDAW NIFDFVTVLG SITDILVTEF GNNFINLSFL RLFRAARLIK LLRQGYTIRI 1690 1700 1710 1720 1730 1740 LLWTFVQSFK ALPYVCLLIA MLFFIYAIIG MQVFGNIGID VEDEDSDEDE FQITEHNNFR 1750 1760 1770 1780 1790 1800 TFFQALMLLF RSATGEAWHN IMLSCLSGKP CDKNSGILTR ECGNEFAYFY FVSFIFLCSF 1810 1820 1830 1840 1850 1860 LMLNLFVAVI MDNFEYLTRD SSILGPHHLD EYVRVWAEYD PAACGRIHYK DMYSLLRVIS 1870 1880 1890 1900 1910 1920 PPLGLGKKCP HRVACKRLLR MDLPVADDNT VHFNSTLMAL IRTALDIKIA KGGADKQQMD 1930 1940 1950 1960 1970 1980 AELRKEMMAI WPNLSQKTLD LLVTPHKSTD LTVGKIYAAM MIMEYYRQSK AKKLQAMREE 1990 2000 2010 2020 2030 2040 QDRTPLMFQR MEPPSPTQEG GPGQNALPST QLDPGGALMA HESGLKESPS WVTQRAQEMF 2050 2060 2070 2080 2090 2100 QKTGTWSPEQ GPPTDMPNSQ PNSQSVEMRE MGRDGYSDSE HYLPMEGQGR AASMPRLPAE 2110 2120 2130 2140 2150 2160 NQRRRGRPRG NNLSTISDTS PMKRSASVLG PKARRLDDYS LERVPPEENQ RHHQRRRDRS 2170 2180 2190 2200 2210 2220 HRASERSLGR YTDVDTGLGT DLSMTTQSGD LPSKERDQER GRPKDRKHRQ HHHHHHHHHH 2230 2240 2250 2260 PPPPDKDRYA QERPDHGRAR ARDQRWSRSP SEGREHMAHR Q
	Isoform 4 (BI-1(V1)-GGCAG). Checksum: ED4AA00D118EF46B	FASTA	2,505	282,209
	10 20 30 40 50 60 MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA 70 80 90 100 110 120 LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH 130 140 150 160 170 180 LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG 190 200 210 220 230 240 ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF 250 260 270 280 290 300 AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ 310 320 330 340 350 360 FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS 370 380 390 400 410 420 GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDGA 430 440 450 460 470 480 LRRTTIKKSK TDLLNPEEAE DQLADIASVG SPFARASIKS AKLENSTFFH KKERRMRFYI 490 500 510 520 530 540 RRMVKTQAFY WTVLSLVALN TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG 550 560 570 580 590 600 LGTRPYFHSS FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL 610 620 630 640 650 660 RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN FDTFPAAIMT 670 680 690 700 710 720 VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF GNYTLLNVFL AIAVDNLANA 730 740 750 760 770 780 QELTKDEQEE EEAANQKLAL QKAKEVAEVS PLSAANMSIA VKEQQKNQKP AKSVWEQRTS 790 800 810 820 830 840 EMRKQNLLAS REALYNEMDP DERWKAAYTR HLRPDMKTHL DRPLVVDPQE NRNNNTNKSR 850 860 870 880 890 900 AAEPTVDQRL GQQRAEDFLR KQARYHDRAR DPSGSAGLDA RRPWAGSQEA ELSREGPYGR 910 920 930 940 950 960 ESDHHAREGS LEQPGFWEGE AERGKAGDPH RRHVHRQGGS RESRSGSPRT GADGEHRRHR 970 980 990 1000 1010 1020 AHRRPGEEGP EDKAERRARH REGSRPARGG EGEGEGPDGG ERRRRHRHGA PATYEGDARR 1030 1040 1050 1060 1070 1080 EDKERRHRRR KENQGSGVPV SGPNLSTTRP IQQDLGRQDP PLAEDIDNMK NNKLATAESA 1090 1100 1110 1120 1130 1140 APHGSLGHAG LPQSPAKMGN STDPGPMLAI PAMATNPQNA ASRRTPNNPG NPSNPGPPKT 1150 1160 1170 1180 1190 1200 PENSLIVTNP SGTQTNSAKT ARKPDHTTVD IPPACPPPLN HTVVQVNKNA NPDPLPKKEE 1210 1220 1230 1240 1250 1260 EKKEEEEDDR GEDGPKPMPP YSSMFILSTT NPLRRLCHYI LNLRYFEMCI LMVIAMSSIA 1270 1280 1290 1300 1310 1320 LAAEDPVQPN APRNNVLRYF DYVFTGVFTF EMVIKMIDLG LVLHQGAYFR DLWNILDFIV 1330 1340 1350 1360 1370 1380 VSGALVAFAF TGNSKGKDIN TIKSLRVLRV LRPLKTIKRL PKLKAVFDCV VNSLKNVFNI 1390 1400 1410 1420 1430 1440 LIVYMLFMFI FAVVAVQLFK GKFFHCTDES KEFEKDCRGK YLLYEKNEVK ARDREWKKYE 1450 1460 1470 1480 1490 1500 FHYDNVLWAL LTLFTVSTGE GWPQVLKHSV DATFENQGPS PGYRMEMSIF YVVYFVVFPF 1510 1520 1530 1540 1550 1560 FFVNIFVALI IITFQEQGDK MMEEYSLEKN ERACIDFAIS AKPLTRHMPQ NKQSFQYRMW 1570 1580 1590 1600 1610 1620 QFVVSPPFEY TIMAMIALNT IVLMMKFYGA SVAYENALRV FNIVFTSLFS LECVLKVMAF 1630 1640 1650 1660 1670 1680 GILNYFRDAW NIFDFVTVLG SITDILVTEF GNNFINLSFL RLFRAARLIK LLRQGYTIRI 1690 1700 1710 1720 1730 1740 LLWTFVQSFK ALPYVCLLIA MLFFIYAIIG MQVFGNIGID VEDEDSDEDE FQITEHNNFR 1750 1760 1770 1780 1790 1800 TFFQALMLLF RSATGEAWHN IMLSCLSGKP CDKNSGILTR ECGNEFAYFY FVSFIFLCSF 1810 1820 1830 1840 1850 1860 LMLNLFVAVI MDNFEYLTRD SSILGPHHLD EYVRVWAEYD PAACGRIHYK DMYSLLRVIS 1870 1880 1890 1900 1910 1920 PPLGLGKKCP HRVACKRLLR MDLPVADDNT VHFNSTLMAL IRTALDIKIA KGGADKQQMD 1930 1940 1950 1960 1970 1980 AELRKEMMAI WPNLSQKTLD LLVTPHKSTD LTVGKIYAAM MIMEYYRQSK AKKLQAMREE 1990 2000 2010 2020 2030 2040 QDRTPLMFQR MEPPSPTQEG GPGQNALPST QLDPGGALMA HESGLKESPS WVTQRAQEMF 2050 2060 2070 2080 2090 2100 QKTGTWSPEQ GPPTDMPNSQ PNSQSVEMRE MGRDGYSDSE HYLPMEGQGR AASMPRLPAE 2110 2120 2130 2140 2150 2160 NQRRRGRPRG NNLSTISDTS PMKRSASVLG PKARRLDDYS LERVPPEENQ RHHQRRRDRS 2170 2180 2190 2200 2210 2220 HRASERSLGR YTDVDTGLGT DLSMTTQSGD LPSKERDQER GRPKDRKHRQ HHHHHHHHHH 2230 2240 2250 2260 2270 2280 PPPPDKDRYA QERPDHGRAR ARDQRWSRSP SEGREHMAHR QGSSSVSGSP APSTSGTSTP 2290 2300 2310 2320 2330 2340 RRGRRQLPQT PSTPRPHVSY SPVIRKAGGS GPPQQQQQQQ QQQQAVARPG RAATSGPRRY 2350 2360 2370 2380 2390 2400 PGPTAEPLAG DRPPTGGHSS GRSPRMERRV PGPARSESPR ACRHGGARWP ASGPHVSEGP 2410 2420 2430 2440 2450 2460 PGPRHHGYYR GSDYDEADGP GSGGGEEAMA GAYDAPPPVR HASSGATGRS PRTPRASGPA 2470 2480 2490 2500 CASPSRHGRR LPNGYYPAHG LARPRGPGSR KGLHEPYSES DDDWC
	Isoform 5 (BI-1(V2)). Checksum: 729D79965A9714A4	FASTA	2,249	255,511
	10 20 30 40 50 60 MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA 70 80 90 100 110 120 LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH 130 140 150 160 170 180 LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG 190 200 210 220 230 240 ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF 250 260 270 280 290 300 AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ 310 320 330 340 350 360 FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS 370 380 390 400 410 420 GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDGA 430 440 450 460 470 480 LRRTTIKKSK TDLLNPEEAE DQLADIASVG SPFARASIKS AKLENSTFFH KKERRMRFYI 490 500 510 520 530 540 RRMVKTQAFY WTVLSLVALN TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG 550 560 570 580 590 600 LGTRPYFHSS FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL 610 620 630 640 650 660 RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN FDTFPAAIMT 670 680 690 700 710 720 VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF GNYTLLNVFL AIAVDNLANA 730 740 750 760 770 780 QELTKDEQEE EEAANQKLAL QKAKEVAEVS PLSAANMSIA VKEQQKNQKP AKSVWEQRTS 790 800 810 820 830 840 EMRKQNLLAS REALYNEMDP DERWKAAYTR HLRPDMKTHL DRPLVVDPQE NRNNNTNKSR 850 860 870 880 890 900 AAEPTVDQRL GQQRAEDFLR KQARYHDRAR DPSGSAGLDA RRPWAGSQEA ELSREGPYGR 910 920 930 940 950 960 ESDHHAREGS LEQPGFWEGE AERGKAGDPH RRHVHRQGGS RESRSGSPRT GADGEHRRHR 970 980 990 1000 1010 1020 AHRRPGEEGP EDKAERRARH REGSRPARGG EGEGEGPDGG ERRRRHRHGA PATYEGDARR 1030 1040 1050 1060 1070 1080 EDKERRHRRR KENQGSGVPV SGPNLSTTRP IQQDLGRQDP PLAEDIDNMK NNKLATAESA 1090 1100 1110 1120 1130 1140 APHGSLGHAG LPQSPAKMGN STDPGPMLAI PAMATNPQNA ASRRTPNNPG NPSNPGPPKT 1150 1160 1170 1180 1190 1200 PENSLIVTNP SGTQTNSAKT ARKPDHTTVD IPPACPPPLN HTVVQVNKNA NPDPLPKKEE 1210 1220 1230 1240 1250 1260 EKKEEEEDDR GEDGPKPMPP YSSMFILSTT NPLRRLCHYI LNLRYFEMCI LMVIAMSSIA 1270 1280 1290 1300 1310 1320 LAAEDPVQPN APRNNVLRYF DYVFTGVFTF EMVIKMIDLG LVLHQGAYFR DLWNILDFIV 1330 1340 1350 1360 1370 1380 VSGALVAFAF TGNSKGKDIN TIKSLRVLRV LRPLKTIKRL PKLKAVFDCV VNSLKNVFNI 1390 1400 1410 1420 1430 1440 LIVYMLFMFI FAVVAVQLFK GKFFHCTDES KEFEKDCRGK YLLYEKNEVK ARDREWKKYE 1450 1460 1470 1480 1490 1500 FHYDNVLWAL LTLFTVSTGE GWPQVLKHSV DATFENQGPS PGYRMEMSIF YVVYFVVFPF 1510 1520 1530 1540 1550 1560 FFVNIFVALI IITFQEQGDK MMEEYSLEKN ERACIDFAIS AKPLTRHMPQ NKQSFQYRMW 1570 1580 1590 1600 1610 1620 QFVVSPPFEY TIMAMIALNT IVLMMKFYGA SVAYENALRV FNIVFTSLFS LECVLKVMAF 1630 1640 1650 1660 1670 1680 GILNYFRDAW NIFDFVTVLG SITDILVTEF GNNFINLSFL RLFRAARLIK LLRQGYTIRI 1690 1700 1710 1720 1730 1740 LLWTFVQSFK ALPYVCLLIA MLFFIYAIIG MQVFGNIGID VEDEDSDEDE FQITEHNNFR 1750 1760 1770 1780 1790 1800 TFFQALMLLF RSATGEAWHN IMLSCLSGKP CDKNSGILTR ECGNEFAYFY FVSFIFLCSF 1810 1820 1830 1840 1850 1860 LMLNLFVAVI MDNFEYLTRD SSILGPHHLD EYVRVWAEYD PAAWGRMPYL DMYQMLRHMS 1870 1880 1890 1900 1910 1920 PPLGLGKKCP ARVAYKRLLR MDLPVADDNT VHFNSTLMAL IRTALDIKIA KGGADKQQMD 1930 1940 1950 1960 1970 1980 AELRKEMMAI WPNLSQKTLD LLVTPHKSTD LTVGKIYAAM MIMEYYRQSK AKKLQAMREE 1990 2000 2010 2020 2030 2040 QDRTPLMFQR MEPPSPTQEG GPGQNALPST QLDPGGALMA HESGLKESPS WVTQRAQEMF 2050 2060 2070 2080 2090 2100 QKTGTWSPEQ GPPTDMPNSQ PNSQSVEMRE MGRDGYSDSE HYLPMEGQGR AASMPRLPAE 2110 2120 2130 2140 2150 2160 NQTISDTSPM KRSASVLGPK ARRLDDYSLE RVPPEENQRH HQRRRDRSHR ASERSLGRYT 2170 2180 2190 2200 2210 2220 DVDTGLGTDL SMTTQSGDLP SKERDQERGR PKDRKHRQHH HHHHHHHHPP PPDKDRYAQE 2230 2240 RPDHGRARAR DQRWSRSPSE GREHMAHRQ
	Isoform 6 (BI-1(V2)-GGCAG). Checksum: 212024798B9867E3	FASTA	2,493	280,944
	10 20 30 40 50 60 MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA 70 80 90 100 110 120 LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH 130 140 150 160 170 180 LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG 190 200 210 220 230 240 ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF 250 260 270 280 290 300 AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ 310 320 330 340 350 360 FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS 370 380 390 400 410 420 GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDGA 430 440 450 460 470 480 LRRTTIKKSK TDLLNPEEAE DQLADIASVG SPFARASIKS AKLENSTFFH KKERRMRFYI 490 500 510 520 530 540 RRMVKTQAFY WTVLSLVALN TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG 550 560 570 580 590 600 LGTRPYFHSS FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL 610 620 630 640 650 660 RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN FDTFPAAIMT 670 680 690 700 710 720 VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF GNYTLLNVFL AIAVDNLANA 730 740 750 760 770 780 QELTKDEQEE EEAANQKLAL QKAKEVAEVS PLSAANMSIA VKEQQKNQKP AKSVWEQRTS 790 800 810 820 830 840 EMRKQNLLAS REALYNEMDP DERWKAAYTR HLRPDMKTHL DRPLVVDPQE NRNNNTNKSR 850 860 870 880 890 900 AAEPTVDQRL GQQRAEDFLR KQARYHDRAR DPSGSAGLDA RRPWAGSQEA ELSREGPYGR 910 920 930 940 950 960 ESDHHAREGS LEQPGFWEGE AERGKAGDPH RRHVHRQGGS RESRSGSPRT GADGEHRRHR 970 980 990 1000 1010 1020 AHRRPGEEGP EDKAERRARH REGSRPARGG EGEGEGPDGG ERRRRHRHGA PATYEGDARR 1030 1040 1050 1060 1070 1080 EDKERRHRRR KENQGSGVPV SGPNLSTTRP IQQDLGRQDP PLAEDIDNMK NNKLATAESA 1090 1100 1110 1120 1130 1140 APHGSLGHAG LPQSPAKMGN STDPGPMLAI PAMATNPQNA ASRRTPNNPG NPSNPGPPKT 1150 1160 1170 1180 1190 1200 PENSLIVTNP SGTQTNSAKT ARKPDHTTVD IPPACPPPLN HTVVQVNKNA NPDPLPKKEE 1210 1220 1230 1240 1250 1260 EKKEEEEDDR GEDGPKPMPP YSSMFILSTT NPLRRLCHYI LNLRYFEMCI LMVIAMSSIA 1270 1280 1290 1300 1310 1320 LAAEDPVQPN APRNNVLRYF DYVFTGVFTF EMVIKMIDLG LVLHQGAYFR DLWNILDFIV 1330 1340 1350 1360 1370 1380 VSGALVAFAF TGNSKGKDIN TIKSLRVLRV LRPLKTIKRL PKLKAVFDCV VNSLKNVFNI 1390 1400 1410 1420 1430 1440 LIVYMLFMFI FAVVAVQLFK GKFFHCTDES KEFEKDCRGK YLLYEKNEVK ARDREWKKYE 1450 1460 1470 1480 1490 1500 FHYDNVLWAL LTLFTVSTGE GWPQVLKHSV DATFENQGPS PGYRMEMSIF YVVYFVVFPF 1510 1520 1530 1540 1550 1560 FFVNIFVALI IITFQEQGDK MMEEYSLEKN ERACIDFAIS AKPLTRHMPQ NKQSFQYRMW 1570 1580 1590 1600 1610 1620 QFVVSPPFEY TIMAMIALNT IVLMMKFYGA SVAYENALRV FNIVFTSLFS LECVLKVMAF 1630 1640 1650 1660 1670 1680 GILNYFRDAW NIFDFVTVLG SITDILVTEF GNNFINLSFL RLFRAARLIK LLRQGYTIRI 1690 1700 1710 1720 1730 1740 LLWTFVQSFK ALPYVCLLIA MLFFIYAIIG MQVFGNIGID VEDEDSDEDE FQITEHNNFR 1750 1760 1770 1780 1790 1800 TFFQALMLLF RSATGEAWHN IMLSCLSGKP CDKNSGILTR ECGNEFAYFY FVSFIFLCSF 1810 1820 1830 1840 1850 1860 LMLNLFVAVI MDNFEYLTRD SSILGPHHLD EYVRVWAEYD PAAWGRMPYL DMYQMLRHMS 1870 1880 1890 1900 1910 1920 PPLGLGKKCP ARVAYKRLLR MDLPVADDNT VHFNSTLMAL IRTALDIKIA KGGADKQQMD 1930 1940 1950 1960 1970 1980 AELRKEMMAI WPNLSQKTLD LLVTPHKSTD LTVGKIYAAM MIMEYYRQSK AKKLQAMREE 1990 2000 2010 2020 2030 2040 QDRTPLMFQR MEPPSPTQEG GPGQNALPST QLDPGGALMA HESGLKESPS WVTQRAQEMF 2050 2060 2070 2080 2090 2100 QKTGTWSPEQ GPPTDMPNSQ PNSQSVEMRE MGRDGYSDSE HYLPMEGQGR AASMPRLPAE 2110 2120 2130 2140 2150 2160 NQTISDTSPM KRSASVLGPK ARRLDDYSLE RVPPEENQRH HQRRRDRSHR ASERSLGRYT 2170 2180 2190 2200 2210 2220 DVDTGLGTDL SMTTQSGDLP SKERDQERGR PKDRKHRQHH HHHHHHHHPP PPDKDRYAQE 2230 2240 2250 2260 2270 2280 RPDHGRARAR DQRWSRSPSE GREHMAHRQG SSSVSGSPAP STSGTSTPRR GRRQLPQTPS 2290 2300 2310 2320 2330 2340 TPRPHVSYSP VIRKAGGSGP PQQQQQQQQQ QQAVARPGRA ATSGPRRYPG PTAEPLAGDR 2350 2360 2370 2380 2390 2400 PPTGGHSSGR SPRMERRVPG PARSESPRAC RHGGARWPAS GPHVSEGPPG PRHHGYYRGS 2410 2420 2430 2440 2450 2460 DYDEADGPGS GGGEEAMAGA YDAPPPVRHA SSGATGRSPR TPRASGPACA SPSRHGRRLP 2470 2480 2490 NGYYPAHGLA RPRGPGSRKG LHEPYSESDD DWC
	Isoform 7 (BI-1(V2,V3)). Checksum: 3E9FDBB527ED3E46	FASTA	2,240	254,343
	10 20 30 40 50 60 MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA 70 80 90 100 110 120 LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH 130 140 150 160 170 180 LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG 190 200 210 220 230 240 ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF 250 260 270 280 290 300 AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ 310 320 330 340 350 360 FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS 370 380 390 400 410 420 GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDGA 430 440 450 460 470 480 LRRTTIKKSK TDLLNPEEAE DQLADIASVG SPFARASIKS AKLENSTFFH KKERRMRFYI 490 500 510 520 530 540 RRMVKTQAFY WTVLSLVALN TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG 550 560 570 580 590 600 LGTRPYFHSS FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL 610 620 630 640 650 660 RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN FDTFPAAIMT 670 680 690 700 710 720 VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF GNYTLLNVFL AIAVDNLANA 730 740 750 760 770 780 QELTKDEQEE EEAANQKLAL QKAKEVAEVS PLSAANMSIA VKEQQKNQKP AKSVWEQRTS 790 800 810 820 830 840 EMRKQNLLAS REALYNEMDP DERWKAAYTR HLRPDMKTHL DRPLVVDPQE NRNNNTNKSR 850 860 870 880 890 900 AAEPTVDQRL GQQRAEDFLR KQARYHDRAR DPSGSAGLDA RRPWAGSQEA ELSREGPYGR 910 920 930 940 950 960 ESDHHAREGS LEQPGFWEGE AERGKAGDPH RRHVHRQGGS RESRSGSPRT GADGEHRRHR 970 980 990 1000 1010 1020 AHRRPGEEGP EDKAERRARH REGSRPARGG EGEGEGPDGG ERRRRHRHGA PATYEGDARR 1030 1040 1050 1060 1070 1080 EDKERRHRRR KENQGSGVPV SGPNLSTTRP IQQDLGRQDP PLAEDIDNMK NNKLATAESA 1090 1100 1110 1120 1130 1140 APHGSLGHAG LPQSPAKMGN STDPGPMLAI PAMATNPQNA ASRRTPNNPG NPSNPGPPKT 1150 1160 1170 1180 1190 1200 PENSLIVTNP SGTQTNSAKT ARKPDHTTVD IPPACPPPLN HTVVQVNKNA NPDPLPKKEE 1210 1220 1230 1240 1250 1260 EKKEEEEDDR GEDGPKPMPP YSSMFILSTT NPLRRLCHYI LNLRYFEMCI LMVIAMSSIA 1270 1280 1290 1300 1310 1320 LAAEDPVQPN APRNNVLRYF DYVFTGVFTF EMVIKMIDLG LVLHQGAYFR DLWNILDFIV 1330 1340 1350 1360 1370 1380 VSGALVAFAF TGNSKGKDIN TIKSLRVLRV LRPLKTIKRL PKLKAVFDCV VNSLKNVFNI 1390 1400 1410 1420 1430 1440 LIVYMLFMFI FAVVAVQLFK GKFFHCTDES KEFEKDCRGK YLLYEKNEVK ARDREWKKYE 1450 1460 1470 1480 1490 1500 FHYDNVLWAL LTLFTVSTGE GWPQVLKHSV DATFENQGPS PGYRMEMSIF YVVYFVVFPF 1510 1520 1530 1540 1550 1560 FFVNIFVALI IITFQEQGDK MMEEYSLEKN ERACIDFAIS AKPLTRHMPQ NKQSFQYRMW 1570 1580 1590 1600 1610 1620 QFVVSPPFEY TIMAMIALNT IVLMMKFYGA SVAYENALRV FNIVFTSLFS LECVLKVMAF 1630 1640 1650 1660 1670 1680 GILNYFRDAW NIFDFVTVLG SITDILVTEF GNNFINLSFL RLFRAARLIK LLRQGYTIRI 1690 1700 1710 1720 1730 1740 LLWTFVQSFK ALPYVCLLIA MLFFIYAIIG MQVFGNIGID VEDEDSDEDE FQITEHNNFR 1750 1760 1770 1780 1790 1800 TFFQALMLLF RSATGEAWHN IMLSCLSGKP CDKNSGILTR ECGNEFAYFY FVSFIFLCSF 1810 1820 1830 1840 1850 1860 LMLNLFVAVI MDNFEYLTRD SSILGPHHLD EYVRVWAEYD PAAWGRMPYL DMYQMLRHMS 1870 1880 1890 1900 1910 1920 PPLGLGKKCP ARVAYKRLLR MDLPVADDNT VHFNSTLMAL IRTALDIKIA KGGADKQQMD 1930 1940 1950 1960 1970 1980 AELRKEMMAI WPNLSQKTLD LLVTPHKSTD LTVGKIYAAM MIMEYYRQSK AKKLQAMREE 1990 2000 2010 2020 2030 2040 QDRTPLMFQR MEPPSPTQEG GPGQNALPST QLDPGGALMA HESGLKESPS WVTQRAQEMF 2050 2060 2070 2080 2090 2100 QKTGTWSPEQ GPPTDMPNSQ PNSQSVEMRE MGRDGYSDSE HYLPMEGQGR AASMPRLPAE 2110 2120 2130 2140 2150 2160 NQRRRGRPRG NNLSTISDTS PMKRSASVLG PKARRLDDYS LERVPPEENQ RHHQRRRDRS 2170 2180 2190 2200 2210 2220 HRASERSLGR YTDVDTGLGT DLSMTTQSGD LPSKERDQER GRPKDRKHRQ HHHHHHHHHR 2230 2240 FLCFFFPFFL PCLKTVGLGL

References

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[1]	"Structural elements in domain IV that influence biophysical and pharmacological properties of human alpha1A-containing high-voltage-activated calcium channels." Hans M., Urrutia A., Deal C., Brust P.F., Stauderman K., Ellis S.B., Harpold M.M., Johnson E.C., Williams M.E. Biophys. J. 76:1384-1400(1999) [PubMed: 10049321] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2). Tissue: Neuron.
[2]	"Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4." Ophoff R.A., Terwindt G.M., Vergouwe M.N., van Eijk R., Oefner P.J., Hoffman S.M.G., Lamerdin J.E., Mohrenweiser H.W., Bulman D.E., Ferrari M., Haan J., Lindhout D., van Ommen G.-J.B., Hofker M.H., Ferrari M.D., Frants R.R. Cell 87:543-552(1996) [PubMed: 8898206] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 3), VARIANTS FHM, INVOLVEMENT IN EA2. Tissue: Cerebellum.
[3]	"Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel." Zhuchenko O., Bailey J., Bonnen P.E., Ashizawa T., Stockton D.W., Amos C., Dobyns W.B., Subramony S.H., Zoghbi H.Y., Lee C.C. Nat. Genet. 15:62-69(1997) [PubMed: 8988170] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), NUCLEOTIDE SEQUENCE [MRNA] OF 1313-2505 (ISOFORMS 1; 2; 3; 6 AND 7), ALTERNATIVE SPLICING, INVOLVEMENT IN SCA6. Tissue: Brain.
[4]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed: 15057824] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"Expression and antibody inhibition of P-type calcium channels in human small-cell lung carcinoma cells." Barry E.L.R., Viglione M.P., Kim Y.I., Froehner S.C. J. Neurosci. 15:274-283(1995) [PubMed: 7823133] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1693-1807. Tissue: Lung carcinoma.
[6]	"Molecular diversity of neuronal-type calcium channels identified in small cell lung carcinoma." Oguro-Okano M., Griesmann G.E., Wieben E.D., Slaymaker S.J., Snutch T.P., Lennon V.A. Mayo Clin. Proc. 67:1150-1159(1992) [PubMed: 1335101] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1702-1822, TISSUE SPECIFICITY. Tissue: Lung carcinoma.
[7]	"Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain." Margolis R.L., Breschel T.S., Li S.H., Kidwai A.S., Antonarakis S.E., McInnis M.G., Ross C.A. Somat. Cell Mol. Genet. 21:279-284(1995) [PubMed: 8525433] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2038-2258 (ISOFORMS 1/2/3/4). Tissue: Frontal cortex.
[8]	"Differential modulation of Ca(v)2.1 channels by calmodulin and Ca2+-binding protein 1." Lee A., Westenbroek R.E., Haeseleer F., Palczewski K., Scheuer T., Catterall W.A. Nat. Neurosci. 5:210-217(2002) [PubMed: 11865310] [Abstract] Cited for: INTERACTION WITH CABP1.
[9]	"Crystal structure of the CaV2 IQ domain in complex with Ca2+/calmodulin: high-resolution mechanistic implications for channel regulation by Ca2+." Mori M.X., Vander Kooi C.W., Leahy D.J., Yue D.T. Structure 16:607-620(2008) [PubMed: 18400181] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.55 ANGSTROMS) OF 1955-1975.
[10]	"Progressive ataxia due to a missense mutation in a calcium-channel gene." Yue Q., Jen J.C., Nelson S.F., Baloh R.W. Am. J. Hum. Genet. 61:1078-1087(1997) [PubMed: 9345107] [Abstract] Cited for: VARIANT SCA6 ARG-293.
[11]	"Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p." Jodice C., Mantuano E., Veneziano L., Trettel F., Sabbadini G., Calandriello L., Francia A., Spadaro M., Pierelli F., Salvi F., Ophoff R.A., Frants R.R., Frontali M. Hum. Mol. Genet. 6:1973-1978(1997) [PubMed: 9302278] [Abstract] Cited for: POLYMORPHISM, INVOLVEMENT IN SCA6 AND EA2.
[12]	"Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM." Friend K.L., Crimmins D., Phan T.G., Sue C.M., Colley A., Fung V.S., Morris J.G., Sutherland G.R., Richards R.I. Hum. Genet. 105:261-265(1999) [PubMed: 10987655] [Abstract] Cited for: VARIANT EA2 HIS-1661.
[13]	"Genetic heterogeneity in Italian families with familial hemiplegic migraine." Carrera P., Piatti M., Stenirri S., Grimaldi L.M., Marchioni E., Curcio M., Righetti P.G., Ferrari M., Gelfi C. Neurology 53:26-33(1999) [PubMed: 10408532] [Abstract] Cited for: VARIANT VAL-993, VARIANT FHM LEU-1456.
[14]	"Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine." Kors E.E., Terwindt G.M., Vermeulen F.L., Fitzsimons R.B., Jardine P.E., Heywood P., Love S., van den Maagdenberg A.M., Haan J., Frants R.R., Ferrari M.D. Ann. Neurol. 49:753-760(2001) [PubMed: 11409427] [Abstract] Cited for: VARIANT FHM LEU-218.
[15]	"Missense CACNA1A mutation causing episodic ataxia type 2." Denier C., Ducros A., Durr A., Eymard B., Chassande B., Tournier-Lasserve E. Arch. Neurol. 58:292-295(2001) [PubMed: 11176968] [Abstract] Cited for: VARIANT EA2 LYS-1756.
[16]	"The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel." Ducros A., Denier C., Joutel A., Cecillon M., Lescoat C., Vahedi K., Darcel F., Vicaut E., Bousser M.G., Tournier-Lasserve E. N. Engl. J. Med. 345:17-24(2001) [PubMed: 11439943] [Abstract] Cited for: VARIANTS FHM LYS-195; GLN-583; MET-666; GLU-715; GLU-1335; CYS-1384; TRP-1667 AND ARG-1683.
[17]	"Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission." Jen J., Wan J., Graves M., Yu H., Mock A.F., Coulin C.J., Kim G., Yue Q., Papazian D.M., Baloh R.W. Neurology 57:1843-1848(2001) [PubMed: 11723274] [Abstract] Cited for: VARIANT EA2 CYS-1404, CHARACTERIZATION OF VARIANT EA2 CYS-1404.
[18]	"Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene." van den Maagdenberg A.M., Kors E.E., Brunt E.R., van Paesschen W., Pascual J., Ravine D., Keeling S., Vanmolkot K.R., Vermeulen F.L., Terwindt G.M., Haan J., Frants R.R., Ferrari M.D. J. Neurol. 249:1515-1519(2002) [PubMed: 12420090] [Abstract] Cited for: VARIANT EA2 TYR-253.
[19]	"Functional implications of a novel EA2 mutation in the P/Q-type calcium channel." Spacey S.D., Hildebrand M.E., Materek L.A., Bird T.D., Snutch T.P. Ann. Neurol. 56:213-220(2004) [PubMed: 15293273] [Abstract] Cited for: VARIANT EA2 LEU-1736.
[20]	"A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine." Alonso I., Barros J., Tuna A., Seixas A., Coutinho P., Sequeiros J., Silveira I. Clin. Genet. 65:70-72(2004) [PubMed: 15032980] [Abstract] Cited for: VARIANT FHM GLN-1346.
[21]	"Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2." Mantuano E., Veneziano L., Spadaro M., Giunti P., Guida S., Leggio M.G., Verriello L., Wood N., Jodice C., Frontali M. J. Med. Genet. 41:E82-E82(2004) [PubMed: 15173248] [Abstract] Cited for: VARIANTS EA2 ARG-256; ARG-1482; SER-1490; ILE-1493 AND CYS-2135.
[22]	"Clinical spectrum of episodic ataxia type 2." Jen J., Kim G.W., Baloh R.W. Neurology 62:17-22(2004) [PubMed: 14718690] [Abstract] Cited for: VARIANTS EA2 TYR-287; ARG-293 AND MET-666.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AF004883 mRNA. Translation: AAB61612.1.
AF004884 mRNA. Translation: AAB61613.1.
X99897 mRNA. Translation: CAA68172.1.
Z80114 Genomic DNA. No translation available.
Z80115 Genomic DNA. No translation available.
U79663 mRNA. Translation: AAB49674.1.
U79664 mRNA. Translation: AAB49675.1.
U79665 mRNA. Translation: AAB49676.1.
U79666 mRNA. Translation: AAB64179.1.
U79667 mRNA. Translation: AAB49677.1.
U79668 mRNA. Translation: AAB49678.1.
AC005305 Genomic DNA. Translation: AAC26839.1.
AC008540 Genomic DNA. No translation available.
AC011446 Genomic DNA. No translation available.
AC022436 Genomic DNA. No translation available.
AC026805 Genomic DNA. No translation available.
AC098781 Genomic DNA. No translation available.
AC124224 Genomic DNA. No translation available.
S76537 mRNA. Translation: AAB33068.1.
U06702 mRNA. No translation available.

IPI

IPI00012136.
IPI00217497.
IPI00217498.
IPI00217499.
IPI00291347.
IPI00397553.
IPI00397554.

RefSeq

NP_001120693.1.
NP_001120694.1.

UniGene

Hs.501632

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3BXK	X-ray	2.55	B/D	1955-1975	[»]

SMR

O00555. Positions 1242-1318, 1559-1690.

ModBase

Search...

Protein-protein interaction databases

STRING

O00555.

PTM databases

PhosphoSite

O00555.

Proteomic databases

PRIDE

O00555.

Genome annotation databases

Ensembl

ENST00000360228; ENSP00000353362; ENSG00000141837; Homo sapiens. [Genome view]

GeneID

773.

KEGG

hsa:773.

UCSC

uc002mwy.2. human.
uc010dzc.1. human.
uc010dze.1. human.

Organism-specific databases

CTD

773.

GeneCards

GC19M013178.

H-InvDB

HIX0039929.

HGNC

HGNC:1388. CACNA1A.

MIM

108500. phenotype.
141500. phenotype.
183086. phenotype.
601011. gene.

Orphanet

97. Ataxia, familial paroxysmal.
98758. Ataxia, spinocerebellar, type 6.
71518. Benign paroxysmal torticollis of infancy.
569. Hemiplegic migraine, familial or sporadic.

PharmGKB

PA26007.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG19834.

HOVERGEN

O00555.

InParanoid

O00555.

OrthoDB

EOG9DBWZW.

Enzyme and pathway databases

Reactome

REACT_13685. Synaptic Transmission.
REACT_1505. Integration of energy metabolism.
REACT_15380. Diabetes pathways.

Gene expression databases

ArrayExpress

O00555.

Bgee

O00555.

Genevestigator

O00555.

GermOnline

ENSG00000141837. Homo sapiens.

Family and domain databases

InterPro

IPR005821. Ion_trans.
IPR014873. VDCC_a1su_IQ.
IPR005448. VDCC_P/Q_a1su.
IPR002077. VDCCAlpha1.
[Graphical view]

PANTHER

PTHR10037:SF59. PQVDCCAlpha1. 1 hit.

Pfam

PF08763. Ca_chan_IQ. 1 hit.
PF00520. Ion_trans. 4 hits.
[Graphical view]

PRINTS

PR00167. CACHANNEL.
PR01632. PQVDCCALPHA1.

ProtoNet

Search...

Other Resources

DrugBank

DB01244. Bepridil.
DB00568. Cinnarizine.
DB00836. Loperamide.
DB00401. Nisoldipine.
DB00230. Pregabalin.

NextBio

3122.

SOURCE

Search...

Entry information

Entry name

CAC1A_HUMAN

Accession

Primary (citable) accession number: O00555
Secondary accession number(s): P78510 , P78511, Q16290, Q92690, Q99790, Q99791, Q99792, Q99793, Q9UDC4

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	July 15, 1999
Last modified:	January 19, 2010
This is version 106 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.