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O43497

- CAC1G_HUMAN

UniProt

O43497 - CAC1G_HUMAN

Protein

Voltage-dependent T-type calcium channel subunit alpha-1G

Gene

CACNA1G

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 3 (01 Dec 2000)
      Previous versions | rss
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    Functioni

    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-1G gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by mibefradil. A particularity of this type of channel is an opening at quite negative potentials and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei354 – 3541Calcium ion selectivity and permeabilityBy similarity
    Sitei924 – 9241Calcium ion selectivity and permeabilityBy similarity
    Sitei1465 – 14651Calcium ion selectivity and permeabilityBy similarity
    Sitei1770 – 17701Calcium ion selectivity and permeabilityBy similarity

    GO - Molecular functioni

    1. low voltage-gated calcium channel activity Source: BHF-UCL
    2. scaffold protein binding Source: BHF-UCL

    GO - Biological processi

    1. axon guidance Source: Reactome
    2. calcium ion import Source: BHF-UCL
    3. membrane depolarization during action potential Source: RefGenome
    4. positive regulation of calcium ion-dependent exocytosis Source: RefGenome
    5. regulation of atrial cardiac muscle cell membrane depolarization Source: Ensembl
    6. regulation of heart rate Source: Ensembl
    7. regulation of membrane potential Source: BHF-UCL
    8. response to nickel cation Source: Ensembl
    9. synaptic transmission Source: Ensembl
    10. transport Source: ProtInc

    Keywords - Molecular functioni

    Calcium channel, Ion channel, Voltage-gated channel

    Keywords - Biological processi

    Calcium transport, Ion transport, Transport

    Keywords - Ligandi

    Calcium

    Enzyme and pathway databases

    ReactomeiREACT_18312. NCAM1 interactions.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Voltage-dependent T-type calcium channel subunit alpha-1G
    Alternative name(s):
    Cav3.1c
    NBR13
    Voltage-gated calcium channel subunit alpha Cav3.1
    Gene namesi
    Name:CACNA1G
    Synonyms:KIAA1123
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:1394. CACNA1G.

    Subcellular locationi

    GO - Cellular componenti

    1. plasma membrane Source: RefGenome
    2. voltage-gated calcium channel complex Source: ProtInc

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA381.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 23772377Voltage-dependent T-type calcium channel subunit alpha-1GPRO_0000053952Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi173 – 1731N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi246 – 2461N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi306 – 3061N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi310 – 3101N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi322 – 3221N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1448 – 14481N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1451 – 14511N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1698 – 16981N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II.

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiO43497.
    PRIDEiO43497.

    PTM databases

    PhosphoSiteiO43497.

    Expressioni

    Tissue specificityi

    Highly expressed in brain, in particular in the amygdala, subthalamic nuclei, cerebellum and thalamus. Moderate expression in heart; low expression in placenta, kidney and lung. Also expressed in colon and bone marrow and in tumoral cells to a lesser extent. Highly expressed in fetal brain, but also in peripheral fetal tissues as heart, kidney and lung, suggesting a developmentally regulated expression.

    Developmental stagei

    Isoform 4, isoform 7, isoform 18, isoform 19, isoform 24, isoform 25 and isoform 31 are adult-specific. Isoform 8, isoform 14, isoform 15, isoform 16, isoform 17, isoform 20, isoform 21, isoform 22, isoform 23, isoform 26, isoform 27, isoform 28, isoform 29 and isoform 30 are fetal-specific. Isoform 1, isoform 2, isoform 6, isoform 9, isoform 11, isoform 12 and isoform 13 are expressed in both fetus and adult.1 Publication

    Gene expression databases

    ArrayExpressiO43497.
    BgeeiO43497.
    GenevestigatoriO43497.

    Organism-specific databases

    HPAiHPA004714.

    Interactioni

    Protein-protein interaction databases

    BioGridi114427. 1 interaction.
    IntActiO43497. 2 interactions.
    MINTiMINT-2796172.

    Structurei

    3D structure databases

    ProteinModelPortaliO43497.
    SMRiO43497. Positions 82-234, 745-976, 1278-1549, 1617-1863.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 8080CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini102 – 11918ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini142 – 1509CytoplasmicSequence Analysis
    Topological domaini171 – 1755ExtracellularSequence Analysis
    Topological domaini194 – 21320CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini235 – 370136ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini396 – 743348CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini765 – 77713ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini800 – 8056CytoplasmicSequence Analysis
    Topological domaini825 – 8328ExtracellularSequence Analysis
    Topological domaini857 – 86711CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini889 – 93951ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini965 – 1272308CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1296 – 131318ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1335 – 134410CytoplasmicSequence Analysis
    Topological domaini1365 – 137814ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1401 – 141010CytoplasmicSequence Analysis
    Topological domaini1435 – 151177ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1538 – 161073CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1632 – 164514ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1668 – 16747CytoplasmicSequence Analysis
    Topological domaini1694 – 170714ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1732 – 174514CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1767 – 182660ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1855 – 2377523CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei81 – 10121Helical; Name=S1 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei120 – 14122Helical; Name=S2 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei151 – 17020Helical; Name=S3 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei176 – 19318Helical; Name=S4 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei214 – 23421Helical; Name=S5 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei371 – 39525Helical; Name=S6 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei744 – 76421Helical; Name=S1 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei778 – 79922Helical; Name=S2 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei806 – 82419Helical; Name=S3 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei833 – 85624Helical; Name=S4 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei868 – 88821Helical; Name=S5 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei940 – 96425Helical; Name=S6 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei1273 – 129523Helical; Name=S1 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1314 – 133421Helical; Name=S2 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1345 – 136420Helical; Name=S3 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1379 – 140022Helical; Name=S4 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1411 – 143424Helical; Name=S5 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1512 – 153726Helical; Name=S6 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1611 – 163121Helical; Name=S1 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1646 – 166722Helical; Name=S2 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1675 – 169319Helical; Name=S3 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1708 – 173124Helical; Name=S4 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1746 – 176621Helical; Name=S5 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1827 – 185428Helical; Name=S6 of repeat IVSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati68 – 398331IAdd
    BLAST
    Repeati729 – 967239IIAdd
    BLAST
    Repeati1263 – 1540278IIIAdd
    BLAST
    Repeati1596 – 1854259IVAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi290 – 2956Poly-Gly
    Compositional biasi496 – 50611Poly-HisAdd
    BLAST

    Domaini

    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.
    The linker region between repeat III and IV probably plays a role in the inactivation of the channel. The C-terminal part may be implicated in the anchoring of the protein to the membrane by interfering with or restricting its lateral diffusion.

    Sequence similaritiesi

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1226.
    HOVERGENiHBG050764.
    InParanoidiO43497.
    KOiK04854.
    OMAiQRCRILQ.
    OrthoDBiEOG7MKW55.
    PhylomeDBiO43497.
    TreeFamiTF313555.

    Family and domain databases

    Gene3Di1.20.120.350. 4 hits.
    InterProiIPR027359. Channel_four-helix_dom.
    IPR005821. Ion_trans_dom.
    IPR005445. VDCC_T_a1su.
    IPR002077. VDCCAlpha1.
    [Graphical view]
    PfamiPF00520. Ion_trans. 4 hits.
    [Graphical view]
    PRINTSiPR00167. CACHANNEL.
    PR01629. TVDCCALPHA1.

    Sequences (35)i

    Sequence statusi: Complete.

    This entry describes 35 isoformsi produced by alternative splicing. Align

    Isoform 5 (identifier: O43497-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MDEEEDGAGA EESGQPRSFM RLNDLSGAGG RPGPGSAEKD PGSADSEAEG     50
    LPYPALAPVV FFYLSQDSRP RSWCLRTVCN PWFERISMLV ILLNCVTLGM 100
    FRPCEDIACD SQRCRILQAF DDFIFAFFAV EMVVKMVALG IFGKKCYLGD 150
    TWNRLDFFIV IAGMLEYSLD LQNVSFSAVR TVRVLRPLRA INRVPSMRIL 200
    VTLLLDTLPM LGNVLLLCFF VFFIFGIVGV QLWAGLLRNR CFLPENFSLP 250
    LSVDLERYYQ TENEDESPFI CSQPRENGMR SCRSVPTLRG DGGGGPPCGL 300
    DYEAYNSSSN TTCVNWNQYY TNCSAGEHNP FKGAINFDNI GYAWIAIFQV 350
    ITLEGWVDIM YFVMDAHSFY NFIYFILLII VGSFFMINLC LVVIATQFSE 400
    TKQRESQLMR EQRVRFLSNA STLASFSEPG SCYEELLKYL VYILRKAARR 450
    LAQVSRAAGV RVGLLSSPAP LGGQETQPSS SCSRSHRRLS VHHLVHHHHH 500
    HHHHYHLGNG TLRAPRASPE IQDRDANGSR RLMLPPPSTP ALSGAPPGGA 550
    ESVHSFYHAD CHLEPVRCQA PPPRSPSEAS GRTVGSGKVY PTVHTSPPPE 600
    TLKEKALVEV AASSGPPTLT SLNIPPGPYS SMHKLLETQS TGACQSSCKI 650
    SSPCLKADSG ACGPDSCPYC ARAGAGEVEL ADREMPDSDS EAVYEFTQDA 700
    QHSDLRDPHS RRQRSLGPDA EPSSVLAFWR LICDTFRKIV DSKYFGRGIM 750
    IAILVNTLSM GIEYHEQPEE LTNALEISNI VFTSLFALEM LLKLLVYGPF 800
    GYIKNPYNIF DGVIVVISVW EIVGQQGGGL SVLRTFRLMR VLKLVRFLPA 850
    LQRQLVVLMK TMDNVATFCM LLMLFIFIFS ILGMHLFGCK FASERDGDTL 900
    PDRKNFDSLL WAIVTVFQIL TQEDWNKVLY NGMASTSSWA ALYFIALMTF 950
    GNYVLFNLLV AILVEGFQAE EISKREDASG QLSCIQLPVD SQGGDANKSE 1000
    SEPDFFSPSL DGDGDRKKCL ALVSLGEHPE LRKSLLPPLI IHTAATPMSL 1050
    PKSTSTGLGE ALGPASRRTS SSGSAEPGAA HEMKSPPSAR SSPHSPWSAA 1100
    SSWTSRRSSR NSLGRAPSLK RRSPSGERRS LLSGEGQESQ DEEESSEEER 1150
    ASPAGSDHRH RGSLEREAKS SFDLPDTLQV PGLHRTASGR GSASEHQDCN 1200
    GKSASGRLAR ALRPDDPPLD GDDADDEGNL SKGERVRAWI RARLPACCLE 1250
    RDSWSAYIFP PQSRFRLLCH RIITHKMFDH VVLVIIFLNC ITIAMERPKI 1300
    DPHSAERIFL TLSNYIFTAV FLAEMTVKVV ALGWCFGEQA YLRSSWNVLD 1350
    GLLVLISVID ILVSMVSDSG TKILGMLRVL RLLRTLRPLR VISRAQGLKL 1400
    VVETLMSSLK PIGNIVVICC AFFIIFGILG VQLFKGKFFV CQGEDTRNIT 1450
    NKSDCAEASY RWVRHKYNFD NLGQALMSLF VLASKDGWVD IMYDGLDAVG 1500
    VDQQPIMNHN PWMLLYFISF LLIVAFFVLN MFVGVVVENF HKCRQHQEEE 1550
    EARRREEKRL RRLEKKRRNL MLDDVIASGS SASAASEAQC KPYYSDYSRF 1600
    RLLVHHLCTS HYLDLFITGV IGLNVVTMAM EHYQQPQILD EALKICNYIF 1650
    TVIFVLESVF KLVAFGFRRF FQDRWNQLDL AIVLLSIMGI TLEEIEVNAS 1700
    LPINPTIIRI MRVLRIARVL KLLKMAVGMR ALLDTVMQAL PQVGNLGLLF 1750
    MLLFFIFAAL GVELFGDLEC DETHPCEGLG RHATFRNFGM AFLTLFRVST 1800
    GDNWNGIMKD TLRDCDQEST CYNTVISPIY FVSFVLTAQF VLVNVVIAVL 1850
    MKHLEESNKE AKEEAELEAE LELEMKTLSP QPHSPLGSPF LWPGVEGPDS 1900
    PDSPKPGALH PAAHARSASH FSLEHPTDRQ LFDTISLLIQ GSLEWELKLM 1950
    DELAGPGGQP SAFPSAPSLG GSDPQIPLAE MEALSLTSEI VSEPSCSLAL 2000
    TDDSLPDDMH TLLLSALESN MQPHPTELPG PDLLTVRKSG VSRTHSLPND 2050
    SYMCRHGSTA EGPLGHRGWG LPKAQSGSVL SVHSQPADTS YILQLPKDAP 2100
    HLLQPHSAPT WGTIPKLPPP GRSPLAQRPL RRQAAIRTDS LDVQGLGSRE 2150
    DLLAEVSGPS PPLARAYSFW GQSSTQAQQH SRSHSKISKH MTPPAPCPGP 2200
    EPNWGKGPPE TRSSLELDTE LSWISGDLLP PGGQEEPPSP RDLKKCYSVE 2250
    AQSCQRRPTS WLDEQRRHSI AVSCLDSGSQ PHLGTDPSNL GGQPLGGPGS 2300
    RPKKKLSPPS ITIDPPESQG PRTPPSPGIC LRRRAPSSDS KDPLASGPPD 2350
    SMAASPSPKK DVLSLSGLSS DPADLDP 2377
    Length:2,377
    Mass (Da):262,472
    Last modified:December 1, 2000 - v3
    Checksum:i1C9F7C557D9D32DF
    GO
    Isoform 1 (identifier: O43497-2) [UniParc]FASTAAdd to Basket

    Also known as: Variant 89

    The sequence of this isoform differs from the canonical sequence as follows:
         971-993: Missing.
         1569-1586: NLMLDDVIASGSSASAAS → SKEKQMA
         1928-2020: Missing.

    Show »
    Length:2,250
    Mass (Da):249,333
    Checksum:iACDCB167AA5DF18F
    GO
    Isoform 2 (identifier: O43497-3) [UniParc]FASTAAdd to Basket

    Also known as: Variant 25

    The sequence of this isoform differs from the canonical sequence as follows:
         971-993: Missing.
         1569-1587: NLMLDDVIASGSSASAASE → K
         1928-2020: Missing.

    Show »
    Length:2,243
    Mass (Da):248,529
    Checksum:i74FA50071A5F9FBD
    GO
    Isoform 3 (identifier: O43497-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         971-993: Missing.

    Show »
    Length:2,354
    Mass (Da):260,029
    Checksum:i2F13189AF179C9E2
    GO
    Isoform 4 (identifier: O43497-5) [UniParc]FASTAAdd to Basket

    Also known as: Variant 88

    The sequence of this isoform differs from the canonical sequence as follows:
         971-993: Missing.
         1569-1586: NLMLDDVIASGSSASAAS → SKEKQMA
         1928-2020: Missing.
         2156-2234: Missing.

    Show »
    Length:2,171
    Mass (Da):240,920
    Checksum:i1C5BEDD83C1C8FB7
    GO
    Isoform 6 (identifier: O43497-6) [UniParc]FASTAAdd to Basket

    Also known as: Variant 217

    The sequence of this isoform differs from the canonical sequence as follows:
         1569-1586: NLMLDDVIASGSSASAAS → SKEKQMA
         1928-2020: Missing.

    Show »
    Length:2,273
    Mass (Da):251,776
    Checksum:iBBE93AF4CCAC8F8D
    GO
    Isoform 7 (identifier: O43497-7) [UniParc]FASTAAdd to Basket

    Also known as: Variant 221

    The sequence of this isoform differs from the canonical sequence as follows:
         1569-1586: NLMLDDVIASGSSASAAS → SKEKQMA
         1976-2020: Missing.

    Show »
    Length:2,321
    Mass (Da):256,828
    Checksum:i2051A97223D0081D
    GO
    Isoform 8 (identifier: O43497-8) [UniParc]FASTAAdd to Basket

    Also known as: Variant 93

    The sequence of this isoform differs from the canonical sequence as follows:
         971-993: Missing.
         1569-1586: NLMLDDVIASGSSASAAS → SKEKQMA
         1976-2020: Missing.

    Show »
    Length:2,298
    Mass (Da):254,386
    Checksum:iEF51D26EC38F66F8
    GO
    Isoform 9 (identifier: O43497-9) [UniParc]FASTAAdd to Basket

    Also known as: Variant 57

    The sequence of this isoform differs from the canonical sequence as follows:
         971-993: Missing.
         1928-2020: Missing.

    Show »
    Length:2,261
    Mass (Da):250,221
    Checksum:iDCA090B5433D83E1
    GO
    Isoform 10 (identifier: O43497-10) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         971-993: Missing.
         1928-1975: Missing.

    Show »
    Length:2,306
    Mass (Da):254,976
    Checksum:i943D153CFCC75CF8
    GO
    Isoform 11 (identifier: O43497-11) [UniParc]FASTAAdd to Basket

    Also known as: Variant 185

    The sequence of this isoform differs from the canonical sequence as follows:
         1928-2020: Missing.

    Show »
    Length:2,284
    Mass (Da):252,664
    Checksum:iFCB59420799A126E
    GO
    Isoform 12 (identifier: O43497-12) [UniParc]FASTAAdd to Basket

    Also known as: Variant 189

    The sequence of this isoform differs from the canonical sequence as follows:
         1976-2020: Missing.

    Show »
    Length:2,332
    Mass (Da):257,716
    Checksum:i74F41CEA601E8CBC
    GO
    Isoform 13 (identifier: O43497-13) [UniParc]FASTAAdd to Basket

    Also known as: Variant 153

    The sequence of this isoform differs from the canonical sequence as follows:
         1569-1587: NLMLDDVIASGSSASAASE → K
         1928-2020: Missing.

    Show »
    Length:2,266
    Mass (Da):250,972
    Checksum:i66E3563375ED61DA
    GO
    Isoform 14 (identifier: O43497-15) [UniParc]FASTAAdd to Basket

    Also known as: Variant 137

    The sequence of this isoform differs from the canonical sequence as follows:
         1569-1587: NLMLDDVIASGSSASAASE → K
         1737-1743: Missing.
         1928-2020: Missing.

    Show »
    Length:2,259
    Mass (Da):250,204
    Checksum:i4DB0EDC2873FB788
    GO
    Isoform 15 (identifier: O43497-16) [UniParc]FASTAAdd to Basket

    Also known as: Variant 157

    The sequence of this isoform differs from the canonical sequence as follows:
         1569-1587: NLMLDDVIASGSSASAASE → K
         1976-2020: Missing.

    Show »
    Length:2,314
    Mass (Da):256,024
    Checksum:i8C9D69B5A3C86C21
    GO
    Isoform 16 (identifier: O43497-17) [UniParc]FASTAAdd to Basket

    Also known as: Variant 169

    The sequence of this isoform differs from the canonical sequence as follows:
         1737-1743: Missing.
         1928-2020: Missing.

    Show »
    Length:2,277
    Mass (Da):251,896
    Checksum:iB942CD535E125104
    GO
    Isoform 17 (identifier: O43497-18) [UniParc]FASTAAdd to Basket

    Also known as: Variant 184

    The sequence of this isoform differs from the canonical sequence as follows:
         1928-2020: Missing.
         2156-2234: Missing.

    Show »
    Length:2,205
    Mass (Da):244,250
    Checksum:iE059BCB89C6929DA
    GO
    Isoform 18 (identifier: O43497-19) [UniParc]FASTAAdd to Basket

    Also known as: Variant 216

    The sequence of this isoform differs from the canonical sequence as follows:
         1569-1586: NLMLDDVIASGSSASAAS → SKEKQMA
         1928-2020: Missing.
         2156-2234: Missing.

    Show »
    Length:2,194
    Mass (Da):243,362
    Checksum:i1A2CC9E24EDDECA1
    GO
    Isoform 19 (identifier: O43497-20) [UniParc]FASTAAdd to Basket

    Also known as: Variant 223

    The sequence of this isoform differs from the canonical sequence as follows:
         1569-1586: NLMLDDVIASGSSASAAS → SKEKQMA

    Show »
    Length:2,366
    Mass (Da):261,584
    Checksum:i2CBDED941FB8B793
    GO
    Isoform 20 (identifier: O43497-21) [UniParc]FASTAAdd to Basket

    Also known as: Variant 249

    The sequence of this isoform differs from the canonical sequence as follows:
         1569-1569: N → SKEKQMAD
         1928-2020: Missing.

    Show »
    Length:2,291
    Mass (Da):253,467
    Checksum:i031D1E0372857147
    GO
    Isoform 21 (identifier: O43497-22) [UniParc]FASTAAdd to Basket

    Also known as: Variant 313

    The sequence of this isoform differs from the canonical sequence as follows:
         971-993: Missing.
         1505-1538: Missing.
         1928-2020: Missing.

    Show »
    Length:2,227
    Mass (Da):246,224
    Checksum:iE0F263D2479502B0
    GO
    Isoform 22 (identifier: O43497-23) [UniParc]FASTAAdd to Basket

    Also known as: Variant 409

    The sequence of this isoform differs from the canonical sequence as follows:
         1505-1538: Missing.
         1569-1587: NLMLDDVIASGSSASAASE → K
         1928-2020: Missing.

    Show »
    Length:2,232
    Mass (Da):246,975
    Checksum:iCC32AACAC448BE1A
    GO
    Isoform 23 (identifier: O43497-24) [UniParc]FASTAAdd to Basket

    Also known as: Variant 441

    The sequence of this isoform differs from the canonical sequence as follows:
         1505-1538: Missing.
         1928-2020: Missing.

    Show »
    Length:2,250
    Mass (Da):248,667
    Checksum:i3196A2446C52D0D5
    GO
    Isoform 24 (identifier: O43497-25) [UniParc]FASTAAdd to Basket

    Also known as: Variant 477

    The sequence of this isoform differs from the canonical sequence as follows:
         1505-1538: Missing.
         1569-1586: NLMLDDVIASGSSASAAS → SKEKQMA
         1976-2020: Missing.

    Show »
    Length:2,287
    Mass (Da):252,831
    Checksum:i38379DC69AAACA57
    GO
    Isoform 25 (identifier: O43497-26) [UniParc]FASTAAdd to Basket

    Also known as: Variant 473

    The sequence of this isoform differs from the canonical sequence as follows:
         1505-1538: Missing.
         1569-1586: NLMLDDVIASGSSASAAS → SKEKQMA
         1928-2020: Missing.

    Show »
    Length:2,239
    Mass (Da):247,779
    Checksum:i15CBEF30957AAB27
    GO
    Isoform 26 (identifier: O43497-27) [UniParc]FASTAAdd to Basket

    Also known as: Variant 17

    The sequence of this isoform differs from the canonical sequence as follows:
         971-993: Missing.
         1569-1587: NLMLDDVIASGSSASAASE → K
         1743-1776: VGNLGLLFMLLFFIFAALGVELFGDLECDETHPC → LWAWSSLETWSVTRHTPVRAWAVMPPFGTLAWPS
         1777-2377: Missing.

    Show »
    Length:1,735
    Mass (Da):194,084
    Checksum:iF8C3FE1FDB00B3A8
    GO
    Isoform 27 (identifier: O43497-28) [UniParc]FASTAAdd to Basket

    Also known as: Variant 33

    The sequence of this isoform differs from the canonical sequence as follows:
         971-993: Missing.
         1736-1769: VMQALPQVGNLGLLFMLLFFIFAALGVELFGDLE → LWAWSSLETWSVTRHTPVRAWAVMPPFGTLAWPS
         1770-2377: Missing.

    Show »
    Length:1,746
    Mass (Da):195,008
    Checksum:iF7562C646DF6275D
    GO
    Isoform 28 (identifier: O43497-29) [UniParc]FASTAAdd to Basket

    Also known as: Variant 49

    The sequence of this isoform differs from the canonical sequence as follows:
         971-993: Missing.
         1743-1776: VGNLGLLFMLLFFIFAALGVELFGDLECDETHPC → LWAWSSLETWSVTRHTPVRAWAVMPPFGTLAWPS
         1777-2377: Missing.

    Show »
    Length:1,753
    Mass (Da):195,776
    Checksum:i0A6D75AA5418BCCA
    GO
    Isoform 29 (identifier: O43497-30) [UniParc]FASTAAdd to Basket

    Also known as: Variant 145

    The sequence of this isoform differs from the canonical sequence as follows:
         1569-1587: NLMLDDVIASGSSASAASE → K
         1743-1776: VGNLGLLFMLLFFIFAALGVELFGDLECDETHPC → LWAWSSLETWSVTRHTPVRAWAVMPPFGTLAWPS
         1777-2377: Missing.

    Show »
    Length:1,758
    Mass (Da):196,527
    Checksum:i79746C4F53C48A96
    GO
    Isoform 30 (identifier: O43497-31) [UniParc]FASTAAdd to Basket

    Also known as: Variant 177

    The sequence of this isoform differs from the canonical sequence as follows:
         1743-1776: VGNLGLLFMLLFFIFAALGVELFGDLECDETHPC → LWAWSSLETWSVTRHTPVRAWAVMPPFGTLAWPS
         1777-2377: Missing.

    Show »
    Length:1,776
    Mass (Da):198,218
    Checksum:i8A58FF574B070494
    GO
    Isoform 31 (identifier: O43497-32) [UniParc]FASTAAdd to Basket

    Also known as: Variant 209

    The sequence of this isoform differs from the canonical sequence as follows:
         1569-1586: NLMLDDVIASGSSASAAS → SKEKQMA
         1743-1776: VGNLGLLFMLLFFIFAALGVELFGDLECDETHPC → LWAWSSLETWSVTRHTPVRAWAVMPPFGTLAWPS
         1777-2377: Missing.

    Show »
    Length:1,765
    Mass (Da):197,330
    Checksum:iC26247C1EAE03CFE
    GO
    Isoform 32 (identifier: O43497-33) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         971-993: Missing.
         1569-1586: NLMLDDVIASGSSASAAS → SKEKQMA

    Note: Gene prediction based on EST data.

    Show »
    Length:2,343
    Mass (Da):259,141
    Checksum:i01E1315F5E43FF9C
    GO
    Isoform 33 (identifier: O43497-34) [UniParc]FASTAAdd to Basket

    Also known as: Variant 441-d81

    The sequence of this isoform differs from the canonical sequence as follows:
         1505-1531: Missing.
         1928-2020: Missing.

    Show »
    Length:2,257
    Mass (Da):249,396
    Checksum:i7271F3B05E9438BA
    GO
    Isoform 34 (identifier: O43497-35) [UniParc]FASTAAdd to Basket

    Also known as: Variant 473-d75

    The sequence of this isoform differs from the canonical sequence as follows:
         1505-1529: Missing.
         1569-1586: NLMLDDVIASGSSASAAS → SKEKQMA
         1928-2020: Missing.

    Show »
    Length:2,248
    Mass (Da):248,754
    Checksum:i302BC6EC72A65A1F
    GO
    Isoform 35 (identifier: O43497-36) [UniParc]FASTAAdd to Basket

    Also known as: Variant 473-d81

    The sequence of this isoform differs from the canonical sequence as follows:
         1505-1531: Missing.
         1569-1586: NLMLDDVIASGSSASAAS → SKEKQMA
         1928-2020: Missing.

    Show »
    Length:2,246
    Mass (Da):248,509
    Checksum:iF99DA2229E40387E
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1345 – 13451S → I in AAD12731. (PubMed:9495342)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei971 – 99323Missing in isoform 1, isoform 2, isoform 3, isoform 4, isoform 8, isoform 9, isoform 10, isoform 21, isoform 26, isoform 27, isoform 28 and isoform 32. 4 PublicationsVSP_000940Add
    BLAST
    Alternative sequencei1505 – 153834Missing in isoform 21, isoform 22, isoform 23, isoform 24 and isoform 25. 1 PublicationVSP_047545Add
    BLAST
    Alternative sequencei1505 – 153127Missing in isoform 33 and isoform 35. 1 PublicationVSP_047546Add
    BLAST
    Alternative sequencei1505 – 152925Missing in isoform 34. 1 PublicationVSP_047547Add
    BLAST
    Alternative sequencei1569 – 158719NLMLD…SAASE → K in isoform 2, isoform 13, isoform 14, isoform 15, isoform 22, isoform 26 and isoform 29. 2 PublicationsVSP_000944Add
    BLAST
    Alternative sequencei1569 – 158618NLMLD…ASAAS → SKEKQMA in isoform 1, isoform 4, isoform 6, isoform 7, isoform 8, isoform 18, isoform 19, isoform 24, isoform 25, isoform 31, isoform 32, isoform 34 and isoform 35. 2 PublicationsVSP_000943Add
    BLAST
    Alternative sequencei1569 – 15691N → SKEKQMAD in isoform 20. 1 PublicationVSP_047548
    Alternative sequencei1736 – 176934VMQAL…FGDLE → LWAWSSLETWSVTRHTPVRA WAVMPPFGTLAWPS in isoform 27. 1 PublicationVSP_047549Add
    BLAST
    Alternative sequencei1737 – 17437Missing in isoform 14 and isoform 16. 1 PublicationVSP_047550
    Alternative sequencei1743 – 177634VGNLG…ETHPC → LWAWSSLETWSVTRHTPVRA WAVMPPFGTLAWPS in isoform 26, isoform 28, isoform 29, isoform 30 and isoform 31. 1 PublicationVSP_047551Add
    BLAST
    Alternative sequencei1770 – 2377608Missing in isoform 27. 1 PublicationVSP_047552Add
    BLAST
    Alternative sequencei1777 – 2377601Missing in isoform 26, isoform 28, isoform 29, isoform 30 and isoform 31. 1 PublicationVSP_047553Add
    BLAST
    Alternative sequencei1928 – 202093Missing in isoform 1, isoform 2, isoform 4, isoform 6, isoform 9, isoform 11, isoform 13, isoform 14, isoform 16, isoform 17, isoform 18, isoform 20, isoform 21, isoform 22, isoform 23, isoform 25, isoform 33, isoform 34 and isoform 35. 4 PublicationsVSP_000946Add
    BLAST
    Alternative sequencei1928 – 197548Missing in isoform 10. CuratedVSP_000945Add
    BLAST
    Alternative sequencei1976 – 202045Missing in isoform 7, isoform 8, isoform 12, isoform 15 and isoform 24. 1 PublicationVSP_000947Add
    BLAST
    Alternative sequencei2156 – 223479Missing in isoform 4, isoform 17 and isoform 18. 1 PublicationVSP_000948Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF124351 mRNA. Translation: AAD34352.1.
    AF134985 mRNA. Translation: AAF19346.1.
    AF134986 mRNA. Translation: AAF19347.1.
    AF190860 mRNA. Translation: AAF35287.1.
    AF126965 mRNA. Translation: AAD29400.1.
    AF126966 mRNA. Translation: AAD29401.1.
    AF227744 mRNA. Translation: AAF37689.1.
    AF227745 mRNA. Translation: AAF37690.1.
    AF227746 mRNA. Translation: AAF37691.1.
    AF227747 mRNA. Translation: AAF37692.1.
    AF227748 mRNA. Translation: AAF37693.1.
    AF227749 mRNA. Translation: AAF37694.1.
    AF227750 mRNA. Translation: AAF37695.1.
    AF227751 mRNA. Translation: AAF37696.1.
    DQ494449 mRNA. Translation: ABF69900.1.
    DQ494450 mRNA. Translation: ABF69901.1.
    DQ494451 mRNA. Translation: ABF69902.1.
    DQ494452 mRNA. Translation: ABF69903.1.
    DQ494453 mRNA. Translation: ABF69904.1.
    DQ494454 mRNA. Translation: ABF69905.1.
    DQ494455 mRNA. Translation: ABF69906.1.
    DQ494456 mRNA. Translation: ABF69907.1.
    DQ494457 mRNA. Translation: ABF69908.1.
    DQ494458 mRNA. Translation: ABF69909.1.
    DQ494459 mRNA. Translation: ABF69910.1.
    DQ494460 mRNA. Translation: ABF69911.1.
    DQ494461 mRNA. Translation: ABF69912.1.
    DQ494462 mRNA. Translation: ABF69913.1.
    DQ494463 mRNA. Translation: ABF69914.1.
    DQ494464 mRNA. Translation: ABF69915.1.
    DQ494465 mRNA. Translation: ABF69916.1.
    DQ494466 mRNA. Translation: ABF69917.1.
    DQ494467 mRNA. Translation: ABF69918.1.
    DQ494468 mRNA. Translation: ABF69919.1.
    DQ494469 mRNA. Translation: ABF69920.1.
    DQ494470 mRNA. Translation: ABF69921.1.
    DQ494471 mRNA. Translation: ABF69922.1.
    DQ494472 mRNA. Translation: ABF69923.1.
    DQ494473 mRNA. Translation: ABF69924.1.
    DQ494474 mRNA. Translation: ABF69925.1.
    DQ494475 mRNA. Translation: ABF69926.1.
    DQ494476 mRNA. Translation: ABF69927.1.
    DQ494477 mRNA. Translation: ABF69928.1.
    DQ494478 mRNA. Translation: ABF69929.1.
    DQ494479 mRNA. Translation: ABF69930.1.
    AC004590 Genomic DNA. No translation available.
    AC021491 Genomic DNA. No translation available.
    BC110995 mRNA. Translation: AAI10996.1.
    AB032949 mRNA. Translation: BAA86437.2.
    AF029228 mRNA. Translation: AAD12731.1.
    AF029229 mRNA. Translation: AAD12732.1.
    CCDSiCCDS45730.1. [O43497-1]
    CCDS45731.1. [O43497-12]
    CCDS45732.1. [O43497-11]
    CCDS45733.1. [O43497-13]
    CCDS45734.1. [O43497-33]
    CCDS45735.1. [O43497-2]
    CCDS45736.1. [O43497-5]
    CCDS45737.1. [O43497-10]
    CCDS54142.1. [O43497-7]
    CCDS54143.1. [O43497-6]
    CCDS54144.1. [O43497-9]
    CCDS54145.1. [O43497-3]
    CCDS54146.1. [O43497-8]
    CCDS58565.1. [O43497-17]
    CCDS58566.1. [O43497-18]
    CCDS58567.1. [O43497-15]
    CCDS58568.1. [O43497-16]
    CCDS58569.1. [O43497-21]
    CCDS58570.1. [O43497-20]
    CCDS58571.1. [O43497-19]
    CCDS58572.1. [O43497-24]
    CCDS58573.1. [O43497-23]
    CCDS58574.1. [O43497-25]
    CCDS58575.1. [O43497-26]
    CCDS58576.1. [O43497-22]
    RefSeqiNP_001243253.1. NM_001256324.1. [O43497-16]
    NP_001243254.1. NM_001256325.1. [O43497-21]
    NP_001243255.1. NM_001256326.1. [O43497-25]
    NP_001243256.1. NM_001256327.1. [O43497-17]
    NP_001243257.1. NM_001256328.1. [O43497-15]
    NP_001243258.1. NM_001256329.1. [O43497-24]
    NP_001243259.1. NM_001256330.1. [O43497-26]
    NP_001243260.1. NM_001256331.1. [O43497-23]
    NP_001243261.1. NM_001256332.1. [O43497-22]
    NP_001243262.1. NM_001256333.1. [O43497-18]
    NP_001243263.1. NM_001256334.1. [O43497-19]
    NP_001243288.1. NM_001256359.1. [O43497-34]
    NP_001243289.1. NM_001256360.1. [O43497-35]
    NP_001243290.1. NM_001256361.1. [O43497-36]
    NP_061496.2. NM_018896.4. [O43497-1]
    NP_938190.1. NM_198376.2. [O43497-5]
    NP_938191.2. NM_198377.2. [O43497-20]
    NP_938192.1. NM_198378.2. [O43497-6]
    NP_938193.1. NM_198379.2. [O43497-8]
    NP_938194.1. NM_198380.2. [O43497-7]
    NP_938196.1. NM_198382.2. [O43497-9]
    NP_938197.1. NM_198383.2. [O43497-10]
    NP_938198.1. NM_198384.2. [O43497-11]
    NP_938199.1. NM_198385.2. [O43497-12]
    NP_938200.1. NM_198386.2. [O43497-13]
    NP_938201.1. NM_198387.2. [O43497-2]
    NP_938202.1. NM_198388.2. [O43497-3]
    NP_938406.1. NM_198396.2. [O43497-33]
    UniGeneiHs.591169.

    Genome annotation databases

    EnsembliENST00000352832; ENSP00000339302; ENSG00000006283. [O43497-2]
    ENST00000354983; ENSP00000347078; ENSG00000006283. [O43497-33]
    ENST00000358244; ENSP00000350979; ENSG00000006283. [O43497-5]
    ENST00000359106; ENSP00000352011; ENSG00000006283. [O43497-1]
    ENST00000360761; ENSP00000353990; ENSG00000006283. [O43497-9]
    ENST00000429973; ENSP00000414388; ENSG00000006283. [O43497-13]
    ENST00000442258; ENSP00000409759; ENSG00000006283. [O43497-3]
    ENST00000502264; ENSP00000425522; ENSG00000006283. [O43497-10]
    ENST00000503436; ENSP00000427231; ENSG00000006283. [O43497-29]
    ENST00000503485; ENSP00000427238; ENSG00000006283. [O43497-24]
    ENST00000503607; ENSP00000426558; ENSG00000006283. [O43497-27]
    ENST00000504076; ENSP00000425153; ENSG00000006283. [O43497-32]
    ENST00000505165; ENSP00000422268; ENSG00000006283. [O43497-18]
    ENST00000506406; ENSP00000426313; ENSG00000006283. [O43497-31]
    ENST00000507336; ENSP00000420918; ENSG00000006283. [O43497-20]
    ENST00000507510; ENSP00000423112; ENSG00000006283. [O43497-12]
    ENST00000507609; ENSP00000423045; ENSG00000006283. [O43497-17]
    ENST00000507896; ENSP00000421518; ENSG00000006283. [O43497-19]
    ENST00000510115; ENSP00000427173; ENSG00000006283. [O43497-8]
    ENST00000510366; ENSP00000426814; ENSG00000006283. [O43497-23]
    ENST00000511765; ENSP00000427247; ENSG00000006283. [O43497-30]
    ENST00000511768; ENSP00000424664; ENSG00000006283. [O43497-28]
    ENST00000512389; ENSP00000426261; ENSG00000006283. [O43497-6]
    ENST00000513689; ENSP00000426172; ENSG00000006283. [O43497-25]
    ENST00000513964; ENSP00000425451; ENSG00000006283. [O43497-26]
    ENST00000514079; ENSP00000423317; ENSG00000006283. [O43497-21]
    ENST00000514181; ENSP00000425698; ENSG00000006283. [O43497-15]
    ENST00000514717; ENSP00000422407; ENSG00000006283. [O43497-22]
    ENST00000515165; ENSP00000426098; ENSG00000006283. [O43497-11]
    ENST00000515411; ENSP00000423155; ENSG00000006283. [O43497-16]
    ENST00000515765; ENSP00000426232; ENSG00000006283. [O43497-7]
    GeneIDi8913.
    KEGGihsa:8913.
    UCSCiuc002irk.2. human. [O43497-1]
    uc002irl.2. human.
    uc002irw.2. human. [O43497-10]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF124351 mRNA. Translation: AAD34352.1 .
    AF134985 mRNA. Translation: AAF19346.1 .
    AF134986 mRNA. Translation: AAF19347.1 .
    AF190860 mRNA. Translation: AAF35287.1 .
    AF126965 mRNA. Translation: AAD29400.1 .
    AF126966 mRNA. Translation: AAD29401.1 .
    AF227744 mRNA. Translation: AAF37689.1 .
    AF227745 mRNA. Translation: AAF37690.1 .
    AF227746 mRNA. Translation: AAF37691.1 .
    AF227747 mRNA. Translation: AAF37692.1 .
    AF227748 mRNA. Translation: AAF37693.1 .
    AF227749 mRNA. Translation: AAF37694.1 .
    AF227750 mRNA. Translation: AAF37695.1 .
    AF227751 mRNA. Translation: AAF37696.1 .
    DQ494449 mRNA. Translation: ABF69900.1 .
    DQ494450 mRNA. Translation: ABF69901.1 .
    DQ494451 mRNA. Translation: ABF69902.1 .
    DQ494452 mRNA. Translation: ABF69903.1 .
    DQ494453 mRNA. Translation: ABF69904.1 .
    DQ494454 mRNA. Translation: ABF69905.1 .
    DQ494455 mRNA. Translation: ABF69906.1 .
    DQ494456 mRNA. Translation: ABF69907.1 .
    DQ494457 mRNA. Translation: ABF69908.1 .
    DQ494458 mRNA. Translation: ABF69909.1 .
    DQ494459 mRNA. Translation: ABF69910.1 .
    DQ494460 mRNA. Translation: ABF69911.1 .
    DQ494461 mRNA. Translation: ABF69912.1 .
    DQ494462 mRNA. Translation: ABF69913.1 .
    DQ494463 mRNA. Translation: ABF69914.1 .
    DQ494464 mRNA. Translation: ABF69915.1 .
    DQ494465 mRNA. Translation: ABF69916.1 .
    DQ494466 mRNA. Translation: ABF69917.1 .
    DQ494467 mRNA. Translation: ABF69918.1 .
    DQ494468 mRNA. Translation: ABF69919.1 .
    DQ494469 mRNA. Translation: ABF69920.1 .
    DQ494470 mRNA. Translation: ABF69921.1 .
    DQ494471 mRNA. Translation: ABF69922.1 .
    DQ494472 mRNA. Translation: ABF69923.1 .
    DQ494473 mRNA. Translation: ABF69924.1 .
    DQ494474 mRNA. Translation: ABF69925.1 .
    DQ494475 mRNA. Translation: ABF69926.1 .
    DQ494476 mRNA. Translation: ABF69927.1 .
    DQ494477 mRNA. Translation: ABF69928.1 .
    DQ494478 mRNA. Translation: ABF69929.1 .
    DQ494479 mRNA. Translation: ABF69930.1 .
    AC004590 Genomic DNA. No translation available.
    AC021491 Genomic DNA. No translation available.
    BC110995 mRNA. Translation: AAI10996.1 .
    AB032949 mRNA. Translation: BAA86437.2 .
    AF029228 mRNA. Translation: AAD12731.1 .
    AF029229 mRNA. Translation: AAD12732.1 .
    CCDSi CCDS45730.1. [O43497-1 ]
    CCDS45731.1. [O43497-12 ]
    CCDS45732.1. [O43497-11 ]
    CCDS45733.1. [O43497-13 ]
    CCDS45734.1. [O43497-33 ]
    CCDS45735.1. [O43497-2 ]
    CCDS45736.1. [O43497-5 ]
    CCDS45737.1. [O43497-10 ]
    CCDS54142.1. [O43497-7 ]
    CCDS54143.1. [O43497-6 ]
    CCDS54144.1. [O43497-9 ]
    CCDS54145.1. [O43497-3 ]
    CCDS54146.1. [O43497-8 ]
    CCDS58565.1. [O43497-17 ]
    CCDS58566.1. [O43497-18 ]
    CCDS58567.1. [O43497-15 ]
    CCDS58568.1. [O43497-16 ]
    CCDS58569.1. [O43497-21 ]
    CCDS58570.1. [O43497-20 ]
    CCDS58571.1. [O43497-19 ]
    CCDS58572.1. [O43497-24 ]
    CCDS58573.1. [O43497-23 ]
    CCDS58574.1. [O43497-25 ]
    CCDS58575.1. [O43497-26 ]
    CCDS58576.1. [O43497-22 ]
    RefSeqi NP_001243253.1. NM_001256324.1. [O43497-16 ]
    NP_001243254.1. NM_001256325.1. [O43497-21 ]
    NP_001243255.1. NM_001256326.1. [O43497-25 ]
    NP_001243256.1. NM_001256327.1. [O43497-17 ]
    NP_001243257.1. NM_001256328.1. [O43497-15 ]
    NP_001243258.1. NM_001256329.1. [O43497-24 ]
    NP_001243259.1. NM_001256330.1. [O43497-26 ]
    NP_001243260.1. NM_001256331.1. [O43497-23 ]
    NP_001243261.1. NM_001256332.1. [O43497-22 ]
    NP_001243262.1. NM_001256333.1. [O43497-18 ]
    NP_001243263.1. NM_001256334.1. [O43497-19 ]
    NP_001243288.1. NM_001256359.1. [O43497-34 ]
    NP_001243289.1. NM_001256360.1. [O43497-35 ]
    NP_001243290.1. NM_001256361.1. [O43497-36 ]
    NP_061496.2. NM_018896.4. [O43497-1 ]
    NP_938190.1. NM_198376.2. [O43497-5 ]
    NP_938191.2. NM_198377.2. [O43497-20 ]
    NP_938192.1. NM_198378.2. [O43497-6 ]
    NP_938193.1. NM_198379.2. [O43497-8 ]
    NP_938194.1. NM_198380.2. [O43497-7 ]
    NP_938196.1. NM_198382.2. [O43497-9 ]
    NP_938197.1. NM_198383.2. [O43497-10 ]
    NP_938198.1. NM_198384.2. [O43497-11 ]
    NP_938199.1. NM_198385.2. [O43497-12 ]
    NP_938200.1. NM_198386.2. [O43497-13 ]
    NP_938201.1. NM_198387.2. [O43497-2 ]
    NP_938202.1. NM_198388.2. [O43497-3 ]
    NP_938406.1. NM_198396.2. [O43497-33 ]
    UniGenei Hs.591169.

    3D structure databases

    ProteinModelPortali O43497.
    SMRi O43497. Positions 82-234, 745-976, 1278-1549, 1617-1863.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114427. 1 interaction.
    IntActi O43497. 2 interactions.
    MINTi MINT-2796172.

    Chemistry

    BindingDBi O43497.
    ChEMBLi CHEMBL2362995.
    DrugBanki DB00593. Ethosuximide.
    DB04841. Flunarizine.
    DB01202. Levetiracetam.
    DB01388. Mibefradil.
    DB01100. Pimozide.
    DB00347. Trimethadione.
    DB00661. Verapamil.
    DB00909. Zonisamide.
    GuidetoPHARMACOLOGYi 535.

    PTM databases

    PhosphoSitei O43497.

    Proteomic databases

    PaxDbi O43497.
    PRIDEi O43497.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000352832 ; ENSP00000339302 ; ENSG00000006283 . [O43497-2 ]
    ENST00000354983 ; ENSP00000347078 ; ENSG00000006283 . [O43497-33 ]
    ENST00000358244 ; ENSP00000350979 ; ENSG00000006283 . [O43497-5 ]
    ENST00000359106 ; ENSP00000352011 ; ENSG00000006283 . [O43497-1 ]
    ENST00000360761 ; ENSP00000353990 ; ENSG00000006283 . [O43497-9 ]
    ENST00000429973 ; ENSP00000414388 ; ENSG00000006283 . [O43497-13 ]
    ENST00000442258 ; ENSP00000409759 ; ENSG00000006283 . [O43497-3 ]
    ENST00000502264 ; ENSP00000425522 ; ENSG00000006283 . [O43497-10 ]
    ENST00000503436 ; ENSP00000427231 ; ENSG00000006283 . [O43497-29 ]
    ENST00000503485 ; ENSP00000427238 ; ENSG00000006283 . [O43497-24 ]
    ENST00000503607 ; ENSP00000426558 ; ENSG00000006283 . [O43497-27 ]
    ENST00000504076 ; ENSP00000425153 ; ENSG00000006283 . [O43497-32 ]
    ENST00000505165 ; ENSP00000422268 ; ENSG00000006283 . [O43497-18 ]
    ENST00000506406 ; ENSP00000426313 ; ENSG00000006283 . [O43497-31 ]
    ENST00000507336 ; ENSP00000420918 ; ENSG00000006283 . [O43497-20 ]
    ENST00000507510 ; ENSP00000423112 ; ENSG00000006283 . [O43497-12 ]
    ENST00000507609 ; ENSP00000423045 ; ENSG00000006283 . [O43497-17 ]
    ENST00000507896 ; ENSP00000421518 ; ENSG00000006283 . [O43497-19 ]
    ENST00000510115 ; ENSP00000427173 ; ENSG00000006283 . [O43497-8 ]
    ENST00000510366 ; ENSP00000426814 ; ENSG00000006283 . [O43497-23 ]
    ENST00000511765 ; ENSP00000427247 ; ENSG00000006283 . [O43497-30 ]
    ENST00000511768 ; ENSP00000424664 ; ENSG00000006283 . [O43497-28 ]
    ENST00000512389 ; ENSP00000426261 ; ENSG00000006283 . [O43497-6 ]
    ENST00000513689 ; ENSP00000426172 ; ENSG00000006283 . [O43497-25 ]
    ENST00000513964 ; ENSP00000425451 ; ENSG00000006283 . [O43497-26 ]
    ENST00000514079 ; ENSP00000423317 ; ENSG00000006283 . [O43497-21 ]
    ENST00000514181 ; ENSP00000425698 ; ENSG00000006283 . [O43497-15 ]
    ENST00000514717 ; ENSP00000422407 ; ENSG00000006283 . [O43497-22 ]
    ENST00000515165 ; ENSP00000426098 ; ENSG00000006283 . [O43497-11 ]
    ENST00000515411 ; ENSP00000423155 ; ENSG00000006283 . [O43497-16 ]
    ENST00000515765 ; ENSP00000426232 ; ENSG00000006283 . [O43497-7 ]
    GeneIDi 8913.
    KEGGi hsa:8913.
    UCSCi uc002irk.2. human. [O43497-1 ]
    uc002irl.2. human.
    uc002irw.2. human. [O43497-10 ]

    Organism-specific databases

    CTDi 8913.
    GeneCardsi GC17P048639.
    HGNCi HGNC:1394. CACNA1G.
    HPAi HPA004714.
    MIMi 604065. gene.
    neXtProti NX_O43497.
    PharmGKBi PA381.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1226.
    HOVERGENi HBG050764.
    InParanoidi O43497.
    KOi K04854.
    OMAi QRCRILQ.
    OrthoDBi EOG7MKW55.
    PhylomeDBi O43497.
    TreeFami TF313555.

    Enzyme and pathway databases

    Reactomei REACT_18312. NCAM1 interactions.

    Miscellaneous databases

    ChiTaRSi CACNA1G. human.
    GeneWikii CACNA1G.
    GenomeRNAii 8913.
    NextBioi 33500.
    PROi O43497.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O43497.
    Bgeei O43497.
    Genevestigatori O43497.

    Family and domain databases

    Gene3Di 1.20.120.350. 4 hits.
    InterProi IPR027359. Channel_four-helix_dom.
    IPR005821. Ion_trans_dom.
    IPR005445. VDCC_T_a1su.
    IPR002077. VDCCAlpha1.
    [Graphical view ]
    Pfami PF00520. Ion_trans. 4 hits.
    [Graphical view ]
    PRINTSi PR00167. CACHANNEL.
    PR01629. TVDCCALPHA1.
    ProtoNeti Search...

    Publicationsi

    1. "Inactivation of CACNA1G, a T-type calcium channel gene, by aberrant methylation of its 5' CpG island in human tumors."
      Toyota M., Ho C., Ohe-Toyota M., Baylin S.B., Issa J.-P.J.
      Cancer Res. 59:4535-4541(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), GENE STRUCTURE.
      Tissue: Prostatic carcinoma.
    2. "Structure and alternative splicing of the gene encoding alpha1G, a human brain T calcium channel alpha1 subunit."
      Mittman S., Guo J., Agnew W.S.
      Neurosci. Lett. 274:143-146(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING (ISOFORMS 4 AND 5).
      Tissue: Brain.
    3. "Molecular cloning and functional expression of ca(v)3.1c, a T-type calcium channel from human brain."
      Cribbs L.L., Gomora J.C., Daud A.N., Lee J.-H., Perez-Reyes E.
      FEBS Lett. 466:54-58(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Brain.
    4. "Molecular and functional properties of the human alpha1G subunit that forms T-type calcium channels."
      Monteil A., Chemin J., Bourinet E., Mennessier G., Lory P., Nargeot J.
      J. Biol. Chem. 275:6090-6100(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING (ISOFORMS 1-2 AND 6-13).
      Tissue: Brain.
    5. "Profiling the array of Ca(v)3.1 variants from the human T-type calcium channel gene CACNA1G: alternative structures, developmental expression, and biophysical variations."
      Emerick M.C., Stein R., Kunze R., McNulty M.M., Regan M.R., Hanck D.A., Agnew W.S.
      Proteins 64:320-342(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 4; 6; 7; 8; 9; 11; 12; 13; 14; 15; 16; 17; 18; 19; 20; 21; 22; 23; 24; 25; 26; 27; 28; 29; 30; 31; 33; 34 AND 35), DEVELOPMENTAL STAGE.
      Tissue: Brain and Fetal brain.
    6. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 9).
    8. "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain."
      Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.
      DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 550-2377 (ISOFORM 13).
      Tissue: Brain.
    9. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    10. "Molecular characterization of a neuronal low-voltage-activated T-type calcium channel."
      Perez-Reyes E., Cribbs L.L., Daud A., Lacerda A.E., Barclay J., Williamson M.P., Fox M., Rees M., Lee J.-H.
      Nature 391:896-900(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1126-1444; 1778-1927 AND 2021-2312.
      Tissue: Brain.

    Entry informationi

    Entry nameiCAC1G_HUMAN
    AccessioniPrimary (citable) accession number: O43497
    Secondary accession number(s): D6RA64
    , E7EPR0, O43498, O94770, Q19QY8, Q19QY9, Q19QZ0, Q19QZ1, Q19QZ2, Q19QZ3, Q19QZ4, Q19QZ5, Q19QZ6, Q19QZ7, Q19QZ8, Q19QZ9, Q19R00, Q19R01, Q19R02, Q19R03, Q19R04, Q19R05, Q19R06, Q19R07, Q19R08, Q19R09, Q19R10, Q19R11, Q19R12, Q19R13, Q19R15, Q19R16, Q19R17, Q19R18, Q2TAC4, Q9NYU4, Q9NYU5, Q9NYU6, Q9NYU7, Q9NYU8, Q9NYU9, Q9NYV0, Q9NYV1, Q9UHN9, Q9UHP0, Q9ULU6, Q9UNG7, Q9Y5T2, Q9Y5T3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: December 1, 2000
    Last modified: October 1, 2014
    This is version 130 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3