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2025-05-12 01:25:10, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_014405 3430 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens calcium channel, voltage-dependent, gamma subunit 4
(CACNG4), mRNA.
ACCESSION NM_014405 NM_032659
VERSION NM_014405.3 GI:313482782
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 3430)
AUTHORS Sager,C., Tapken,D., Kott,S. and Hollmann,M.
TITLE Functional modulation of AMPA receptors by transmembrane AMPA
receptor regulatory proteins
JOURNAL Neuroscience 158 (1), 45-54 (2009)
PUBMED 18304745
REMARK Review article
REFERENCE 2 (bases 1 to 3430)
AUTHORS Chen,R.S., Deng,T.C., Garcia,T., Sellers,Z.M. and Best,P.M.
TITLE Calcium channel gamma subunits: a functionally diverse protein
family
JOURNAL Cell Biochem. Biophys. 47 (2), 178-186 (2007)
PUBMED 17652770
REMARK Review article
REFERENCE 3 (bases 1 to 3430)
AUTHORS Moss,F.J., Dolphin,A.C. and Clare,J.J.
TITLE Human neuronal stargazin-like proteins, gamma2, gamma3 and gamma4;
an investigation of their specific localization in human brain and
their influence on CaV2.1 voltage-dependent calcium channels
expressed in Xenopus oocytes
JOURNAL BMC Neurosci 4, 23 (2003)
PUBMED 14505496
REMARK GeneRIF: examined distribution of the stargazin-like proteins
gamma2, gamma3, and gamma4 in human CNS: gamma2 is expressed in
cerebellum, cerebral cortex, hippocampus and thalamus, whereas
gamma3 abounds in cerebral cortex & amygdala and gamma4 in basal
ganglia
Publication Status: Online-Only
REFERENCE 4 (bases 1 to 3430)
AUTHORS Chu,P.J., Robertson,H.M. and Best,P.M.
TITLE Calcium channel gamma subunits provide insights into the evolution
of this gene family
JOURNAL Gene 280 (1-2), 37-48 (2001)
PUBMED 11738816
REFERENCE 5 (bases 1 to 3430)
AUTHORS Burgess,D.L., Gefrides,L.A., Foreman,P.J. and Noebels,J.L.
TITLE A cluster of three novel Ca2+ channel gamma subunit genes on
chromosome 19q13.4: evolution and expression profile of the gamma
subunit gene family
JOURNAL Genomics 71 (3), 339-350 (2001)
PUBMED 11170751
REFERENCE 6 (bases 1 to 3430)
AUTHORS Burgess,D.L., Davis,C.F., Gefrides,L.A. and Noebels,J.L.
TITLE Identification of three novel Ca(2+) channel gamma subunit genes
reveals molecular diversification by tandem and chromosome
duplication
JOURNAL Genome Res. 9 (12), 1204-1213 (1999)
PUBMED 10613843
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AC005988.1, BC034532.1 and
AC005544.1.
On Dec 3, 2010 this sequence version replaced gi:22027547.
Summary: The protein encoded by this gene is a type I transmembrane
AMPA receptor regulatory protein (TARP). TARPs regulate both
trafficking and channel gating of the AMPA receptors. This gene is
part of a functionally diverse eight-member protein subfamily of
the PMP-22/EMP/MP20 family and is located in a cluster with two
family members, a type II TARP and a calcium channel gamma subunit.
[provided by RefSeq, Dec 2010].
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
##Evidence-Data-START##
Transcript exon combination :: CD625647.1, BC034532.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-46 AC005988.1 163387-163432
47-797 BC034532.1 1-751
798-798 AC005544.1 110879-110879 c
799-3426 BC034532.1 753-3380
3427-3430 AC005544.1 108247-108250 c
FEATURES Location/Qualifiers
source 1..3430
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17q24"
gene 1..3430
/gene="CACNG4"
/note="calcium channel, voltage-dependent, gamma subunit
4"
/db_xref="GeneID:27092"
/db_xref="HGNC:1408"
/db_xref="HPRD:05911"
/db_xref="MIM:606404"
exon 1..268
/gene="CACNG4"
/inference="alignment:Splign:1.39.8"
CDS 49..1032
/gene="CACNG4"
/note="neuronal voltage-gated calcium channel gamma-4
subunit; TARP gamma-4; transmembrane AMPAR regulatory
protein gamma-4"
/codon_start=1
/product="voltage-dependent calcium channel gamma-4
subunit"
/protein_id="NP_055220.1"
/db_xref="GI:7656948"
/db_xref="CCDS:CCDS11667.1"
/db_xref="GeneID:27092"
/db_xref="HGNC:1408"
/db_xref="HPRD:05911"
/db_xref="MIM:606404"
/translation="
MVRCDRGLQMLLTTAGAFAAFSLMAIAIGTDYWLYSSAHICNGTNLTMDDGPPPRRARGDLTHSGLWRVCCIEGIYKGHCFRINHFPEDNDYDHDSSEYLLRIVRASSVFPILSTILLLLGGLCIGAGRIYSRKNNIVLSAGILFVAAGLSNIIGIIVYISSNTGDPSDKRDEDKKNHYNYGWSFYFGALSFIVAETVGVLAVNIYIEKNKELRFKTKREFLKASSSSPYARMPSYRYRRRRSRSSSRSTEASPSRDVSPMGLKITGAIPMGELSMYTLSREPLKVTTAASYSPDQEASFLQVHDFFQQDLKEGFHVSMLNRRTTPV
" misc_feature 64..654 /gene="CACNG4" /note="PMP-22/EMP/MP20/Claudin family; Region: PMP22_Claudin; cl15797" /db_xref="CDD:210197" misc_feature 76..138 /gene="CACNG4" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UBN1.1); transmembrane region" misc_feature 370..432 /gene="CACNG4" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UBN1.1); transmembrane region" misc_feature 457..519 /gene="CACNG4" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UBN1.1); transmembrane region" misc_feature 607..669 /gene="CACNG4" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UBN1.1); transmembrane region" variation 153 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:373597428" variation 171 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:137917225" variation 246 /gene="CACNG4" /replace="g" /replace="t" /db_xref="dbSNP:375744713" exon 269..352 /gene="CACNG4" /inference="alignment:Splign:1.39.8" variation 270 /gene="CACNG4" /replace="c" /replace="g" /db_xref="dbSNP:372687382" variation 293 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:201531279" variation 294 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:112211002" variation 323 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:200886756" variation 324 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:34743848" variation 330 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:186352782" exon 353..493 /gene="CACNG4" /inference="alignment:Splign:1.39.8" variation 357 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:199620115" variation 358 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:111539823" variation 361 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:141844181" variation 372 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:201073226" variation 373 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:35104874" STS 379..542 /gene="CACNG4" /standard_name="Cacng4" /db_xref="UniSTS:499001" variation 399 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:148482779" variation 402 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:9911891" variation 406 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:139336374" variation 440 /gene="CACNG4" /replace="g" /replace="t" /db_xref="dbSNP:79368381" variation 457 /gene="CACNG4" /replace="a" /replace="c" /db_xref="dbSNP:368186078" variation 459 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:372072866" variation 471 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:139952030" variation 483 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:199794639" variation 489 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:201426250" exon 494..3430 /gene="CACNG4" /inference="alignment:Splign:1.39.8" variation 531 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:376902766" variation 560 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:371128228" variation 564 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:145497540" variation 591 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:374300841" variation 598 /gene="CACNG4" /replace="g" /replace="t" /db_xref="dbSNP:200930655" variation 638 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:147716893" variation 645 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:142496896" variation 675 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:187099750" variation 682 /gene="CACNG4" /replace="c" /replace="g" /db_xref="dbSNP:199939691" variation 720 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:377684890" variation 727 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:200489504" variation 772 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:375347933" variation 773 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:202135500" variation 787 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:200921531" variation 798 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:11649752" variation 799 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:370622371" variation 807 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:145850219" variation 820 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:376262241" variation 825 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:375384748" variation 882 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:368419631" variation 884 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:149010646" variation 893 /gene="CACNG4" /replace="a" /replace="c" /db_xref="dbSNP:371870032" variation 913 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:375114114" variation 927 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:369344199" variation 931 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:115238163" variation 941 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:373248340" variation 960 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:374952962" variation 983..984 /gene="CACNG4" /replace="" /replace="g" /db_xref="dbSNP:35432835" variation 996 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:137899115" variation 1016 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:140902954" variation 1029 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:372305572" variation 1046 /gene="CACNG4" /replace="a" /replace="t" /db_xref="dbSNP:200543453" variation 1052 /gene="CACNG4" /replace="a" /replace="c" /db_xref="dbSNP:375156934" variation 1053 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:368443497" variation 1073 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:112749490" variation 1140 /gene="CACNG4" /replace="g" /replace="t" /db_xref="dbSNP:193181650" variation 1184 /gene="CACNG4" /replace="a" /replace="c" /db_xref="dbSNP:144635948" variation 1205 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:138591032" variation 1254 /gene="CACNG4" /replace="a" /replace="t" /db_xref="dbSNP:140217764" variation 1294 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:112141155" variation 1295 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:369533890" variation 1420 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:372355692" variation 1452 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:150301909" variation 1453 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:137947127" variation 1468 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:201238001" variation 1516 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:78430187" variation 1538 /gene="CACNG4" /replace="c" /replace="g" /db_xref="dbSNP:58736569" variation 1652 /gene="CACNG4" /replace="c" /replace="g" /db_xref="dbSNP:740555" variation 1849 /gene="CACNG4" /replace="a" /replace="c" /db_xref="dbSNP:143419199" variation 1854 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:185149010" variation 1907 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:143223580" variation 1915 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:374796587" variation 1953 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:190790284" variation 2101 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:147471195" variation 2200 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:77207567" variation 2206 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:193103950" variation 2253 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:141909519" variation 2479 /gene="CACNG4" /replace="a" /replace="t" /db_xref="dbSNP:184518616" variation 2562 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:78886497" variation 2587 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:740554" variation 2607 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:188250082" variation 2650 /gene="CACNG4" /replace="a" /replace="c" /db_xref="dbSNP:139718973" variation 2652 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:180730420" variation 2711 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:200772549" variation 2854 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:185613832" variation 2964 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:1051774" variation 2976 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:3803816" variation 2996 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:189491636" variation 3105 /gene="CACNG4" /replace="c" /replace="g" /db_xref="dbSNP:182185420" variation 3176 /gene="CACNG4" /replace="a" /replace="g" /db_xref="dbSNP:3803815" variation 3227 /gene="CACNG4" /replace="c" /replace="t" /db_xref="dbSNP:372820548" STS 3231..3356 /gene="CACNG4" /standard_name="RH93006" /db_xref="UniSTS:85461" variation 3248 /gene="CACNG4" /replace="g" /replace="t" /db_xref="dbSNP:374134133" polyA_signal 3404..3409 /gene="CACNG4" polyA_signal 3408..3413 /gene="CACNG4" polyA_site 3426 /gene="CACNG4" polyA_site 3430 /gene="CACNG4" ORIGIN
gggcgcggcgggccgggccggcgggcggcggactatgaggcgcccaccatggtgcgatgcgaccgcgggctgcagatgctgctgaccacggccggagccttcgccgccttctcgctcatggccatcgccatcggcaccgactactggctgtactccagcgcgcacatctgcaacggcaccaacctgaccatggacgacgggcccccgccccgccgcgcccgcggcgacctcacccactctggtctgtggcgggtgtgctgcatcgaagggatctataaagggcactgcttccggatcaatcacttcccagaggacaatgactacgaccacgacagctcggagtacctcctccgcatcgtgcgagcctccagcgtcttccccatcctcagcaccatcctgctcctgctgggtggcctgtgcatcggtgctggcaggatctacagccgcaagaacaacatcgtcctcagtgccggcatcctcttcgtggctgcaggcctcagtaacatcatcggtatcatcgtctacatttccagcaacacaggtgacccgagtgacaagcgggacgaagacaaaaagaaccattacaactacggctggtctttttactttggagctctgtctttcattgtggctgagaccgtgggcgtcctggctgtaaacatttacattgagaaaaataaagagttgaggtttaagaccaaacgggaattccttaaggcgtcttcctcttctccttatgccaggatgccgagctacaggtaccggcgacggcgctcgaggtccagctcaaggtccaccgaggcctcgccctccagggacgtgtcgcccatgggcctgaagatcacaggggccatccccatgggggagctgtccatgtacacgctgtccagggagcccctcaaggtgaccaccgcagccagctacagccccgaccaggaggccagcttcctgcaggtgcatgactttttccagcaggacctgaaggaaggtttccacgtcagcatgctgaaccgacggacgacccctgtgtgagccgcctgccctttctctccgctccagcctctccccagaacggctctttttgtcacacaggatggcatgtgatcctcaagacgacgaacaatgaactaaagccaaatgcagccctccctggcctccagaggtggcgtgggctggctttgcacgaaggttgtgctgggagaccggacccggggctgcagaagaagctgaaggctgactttgtcccctccccgaaaaagggtgttttgatgcctcagggtctctgaaatctcccgggaagccccagagctttcctgaggctgcctggccttgatcaacttgggaagacaaaattgagccattatctcctcttggaaacgaatcttgccagaaaaacgggatttcagggccttccctccctgcctgggtgtcgggccaccagaaggctctgccggacgccaagaagacggtctctgggctcttgtcagctgcttttgaacctgaggttcctgcgtcgttgagccagaaatcagaccaccgaagctcactcccttcctctccatctctccctctctccaagactctggcagtggcctatgatcctgaagacagctctgcagccaactggtgctttggcctttgcgctgtcccggggccagcttccctcgacctggggaggccgtggcctgtggaggaggcccaggtaaaggctgggggctgttgctggctatcctctttgcttctggaagtttctgcctcactcagaatgggcaggacagacccactgactggacttcagagtctggagggttccatcggtcaggggaatggcggccacgtgacctcttgccgtgccccttgtcatagacccaaggagcaactctgtcccctgagcgttgggggtcccgggggagaggtggacagacacctccctccaactggcatttggcaacaggagcctggacttctgtgcaagaaagggagacctaagggtgaacagtggccaataaaaaccctagagaacaaacatccatttcctaggtggttacaaatcataacttcctgcaaatcaacgccaggagagcaacttaccttcatttctttgtcttaaaaagtagcagcaactggccccacaactcctgtcattgtaagttattctgccaccacctaacaggacggagtggagtgagtttggataaacggaccgagctgggcttctcttcctccctacagaggggagatctcagcactttgtccggagctgaggaagtggtttctgtgttttacagtttttccagccattcttttcttccccctcctgaagcaagcaaagagcgtggaggcgtgtgcaggcttggaagaagaactctccagaacatggaacttaaccctcttttgtataaaacatgtgctttctaaagaaaaattgtttcttattttttgagactccttgatccaccctggaacagtcgcctgtagtcctggtagctgttgtgcttggaaataacgagcgcatccttgcctcagctacctgctcacagcccatgggtggactcggccccctggggttcagacccaggtccgttcggcctagtgatgatgtcatcgtccatcccatcttcctttgcccccaggaaaggacgcatccaccggtagcggccccagctgactgtcgccgtgtgctggggatctgaaatgaggcctgccagggcccctgtgtgctgtgctccagagccttcgctcccatcagggttggcatcatctgatggcatgtccaagtgtgcccagcagcggatgctgaagcaccagagctcaaggccttcacctgctctaggccagccctgtcaccacctccactgccatgaccaggccgaaggcagggaacgccctccccagtcccgctgtccagcaaggccccgagacttttcttctgtgatttccaaaagcaaggcagccgtgctgttctagttcctctccatccgccacctcccctcccgctgccccagaagtttctatcattccatggagaaagctgtgttccaatgaatcctacctcttgcccagtcccaggcagagtaagcagggcccacctagggaccaagaaagagtaggaagaaggggacgagccgggagcaaaaccacctcagacacccgggccttctcagccttctccccgcggccagctgggtctccggggaccctgggccctgggccgcccattcctggccctcccgctgcatctcagacctgacacccaacggggggatgtggtggcctgtgcccaccttctctccctcctcccgacccgccccctcgcccccacccctgtgtgtttcgccagttaagcacctgtgactccagtacctactactggttttgggttggttgttctgtcttttttttaattaaataaaaacatttttaaaatgtt
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:27092 -> Molecular function: GO:0005245 [voltage-gated calcium channel activity] evidence: IEA
GeneID:27092 -> Biological process: GO:0006810 [transport] evidence: TAS
GeneID:27092 -> Biological process: GO:0007268 [synaptic transmission] evidence: TAS
GeneID:27092 -> Biological process: GO:0051899 [membrane depolarization] evidence: TAS
GeneID:27092 -> Biological process: GO:2000311 [regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity] evidence: IDA
GeneID:27092 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
GeneID:27092 -> Cellular component: GO:0005887 [integral to plasma membrane] evidence: TAS
GeneID:27092 -> Cellular component: GO:0005891 [voltage-gated calcium channel complex] evidence: IEA
GeneID:27092 -> Cellular component: GO:0030666 [endocytic vesicle membrane] evidence: TAS
GeneID:27092 -> Cellular component: GO:0032281 [alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex] evidence: ISS
by
@meso_cacase at
DBCLS
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