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2024-04-20 00:39:44, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_013980 1286 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1
(BNIP1), transcript variant BNIP1-c, mRNA.
ACCESSION NM_013980
VERSION NM_013980.2 GI:153946404
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 1286)
AUTHORS Ryu,S.W., Choi,K., Yoon,J., Kim,S. and Choi,C.
TITLE Endoplasmic reticulum-specific BH3-only protein BNIP1 induces
mitochondrial fragmentation in a Bcl-2- and Drp1-dependent manner
JOURNAL J. Cell. Physiol. 227 (8), 3027-3035 (2012)
PUBMED 22020994
REMARK GeneRIF: ER-specific BNIP1 plays an important role in mitochondrial
dynamics by modulating the mitochondrial fission protein Drp1
REFERENCE 2 (bases 1 to 1286)
AUTHORS Cho,B., Choi,S.Y., Park,O.H., Sun,W. and Geum,D.
TITLE Differential expression of BNIP family members of BH3-only proteins
during the development and after axotomy in the rat
JOURNAL Mol. Cells 33 (6), 605-610 (2012)
PUBMED 22639046
REMARK GeneRIF: three members of the BNIP family, BNIP1, BNIP3 and BNIP3L,
are expressed in the developing brain with distinct brain region
specificity
REFERENCE 3 (bases 1 to 1286)
AUTHORS Feenstra,B., Geller,F., Krogh,C., Hollegaard,M.V., Gortz,S.,
Boyd,H.A., Murray,J.C., Hougaard,D.M. and Melbye,M.
TITLE Common variants near MBNL1 and NKX2-5 are associated with infantile
hypertrophic pyloric stenosis
JOURNAL Nat. Genet. 44 (3), 334-337 (2012)
PUBMED 22306654
REMARK Publication Status: Online-Only
REFERENCE 4 (bases 1 to 1286)
AUTHORS Tang,F., Wang,B., Li,N., Wu,Y., Jia,J., Suo,T., Chen,Q., Liu,Y.J.
and Tang,J.
TITLE RNF185, a novel mitochondrial ubiquitin E3 ligase, regulates
autophagy through interaction with BNIP1
JOURNAL PLoS ONE 6 (9), E24367 (2011)
PUBMED 21931693
REMARK GeneRIF: Human BNIP1 colocalizes with RNF185 at mitochondria and is
polyubiquitinated by RNF185 through K63-based ubiquitin linkage in
vivo.
REFERENCE 5 (bases 1 to 1286)
AUTHORS Wang,L., McDonnell,S.K., Hebbring,S.J., Cunningham,J.M., St
Sauver,J., Cerhan,J.R., Isaya,G., Schaid,D.J. and Thibodeau,S.N.
TITLE Polymorphisms in mitochondrial genes and prostate cancer risk
JOURNAL Cancer Epidemiol. Biomarkers Prev. 17 (12), 3558-3566 (2008)
PUBMED 19064571
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (bases 1 to 1286)
AUTHORS Nakajima,K., Hirose,H., Taniguchi,M., Kurashina,H., Arasaki,K.,
Nagahama,M., Tani,K., Yamamoto,A. and Tagaya,M.
TITLE Involvement of BNIP1 in apoptosis and endoplasmic reticulum
membrane fusion
JOURNAL EMBO J. 23 (16), 3216-3226 (2004)
PUBMED 15272311
REMARK GeneRIF: soluble N-ethylmaleimide-sensitive factor attachment
protein may suppress apoptosis by competing with antiapoptotic
proteins for the BH3 domain of BNIP1
REFERENCE 7 (bases 1 to 1286)
AUTHORS Zhang,H., Heim,J. and Meyhack,B.
TITLE Novel BNIP1 variants and their interaction with BCL2 family members
JOURNAL FEBS Lett. 448 (1), 23-27 (1999)
PUBMED 10217402
REFERENCE 8 (bases 1 to 1286)
AUTHORS Kataoka,N., Ohno,M., Moda,I. and Shimura,Y.
TITLE Identification of the factors that interact with NCBP, an 80 kDa
nuclear cap binding protein
JOURNAL Nucleic Acids Res. 23 (18), 3638-3641 (1995)
PUBMED 7478990
REFERENCE 9 (bases 1 to 1286)
AUTHORS Boyd,J.M., Malstrom,S., Subramanian,T., Venkatesh,L.K.,
Schaeper,U., Elangovan,B., D'Sa-Eipper,C. and Chinnadurai,G.
TITLE Adenovirus E1B 19 kDa and Bcl-2 proteins interact with a common set
of cellular proteins
JOURNAL Cell 79 (2), 341-351 (1994)
PUBMED 7954800
REMARK Erratum:[Cell. 1994 Dec 16;79(6):1121. PMID: 8001138]
REFERENCE 10 (bases 1 to 1286)
AUTHORS Gu,Z., Moerschell,R.P., Sherman,F. and Goldfarb,D.S.
TITLE NIP1, a gene required for nuclear transport in yeast
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 89 (21), 10355-10359 (1992)
PUBMED 1332047
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AU311051.1, AF083958.1,
BC010959.1 and BP384034.1.
On Jul 26, 2007 this sequence version replaced gi:7524351.
Summary: This gene is a member of the BCL2/adenovirus E1B 19
kd-interacting protein (BNIP) family. It interacts with the E1B 19
kDa protein, which protects cells from virally-induced cell death.
The encoded protein also interacts with E1B 19 kDa-like sequences
of BCL2, another apoptotic protector. In addition, this protein is
involved in vesicle transport into the endoplasmic reticulum.
Alternative splicing of this gene results in four protein products
with identical N- and C-termini. [provided by RefSeq, Mar 2011].
Transcript Variant: Transcript variant BNIP1-c contains the same
129-nucleotide insertion as BNIP1-b, but also the same
102-nucleotide deletion as BNIP1-a. This variant lacks a BH3 domain
which is associated with pro-apoptotic function, and therefore, may
function similarly to anti-apoptotic members of the BCL2 family.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AF083958.1, BX100269.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-95 AU311051.1 1-95
96-758 AF083958.1 2-664
759-1277 BC010959.1 657-1175
1278-1286 BP384034.1 328-336
FEATURES Location/Qualifiers
source 1..1286
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="5"
/map="5q33-q34"
gene 1..1286
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/note="BCL2/adenovirus E1B 19kDa interacting protein 1"
/db_xref="GeneID:662"
/db_xref="HGNC:1082"
/db_xref="MIM:603291"
exon 1..188
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/inference="alignment:Splign:1.39.8"
variation 53
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:373468807"
variation 55
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:374359577"
misc_feature 63..65
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/note="upstream in-frame stop codon"
variation 80
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:368320777"
variation 91
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="c"
/replace="g"
/db_xref="dbSNP:372903607"
variation 95
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="c"
/db_xref="dbSNP:201515233"
CDS 105..818
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/note="isoform BNIP1-c is encoded by transcript variant
BNIP1-c; vesicle transport protein SEC20;
transformation-related gene 8 protein; BCL2/adenovirus E1B
19 kDa protein-interacting protein 1"
/codon_start=1
/product="vesicle transport protein SEC20 isoform BNIP1-c"
/protein_id="NP_053583.2"
/db_xref="GI:153946405"
/db_xref="CCDS:CCDS4386.1"
/db_xref="GeneID:662"
/db_xref="HGNC:1082"
/db_xref="MIM:603291"
/translation="
MAAPQDVHVRICNQEIVKFDLEVKALIQDIRDCSGPLSALTELNTKVKEKFQQLRHRIQPVLYQRAFIWTASTFFFKLTYSLTDFSSTQHDFNSPTTPVTFSDLEQLAKEQDKESEKQLLLQEVENHKKQMLRKTTKESLAQTSSTITESLMGISRMMAQQVQQSEEAMQSLVTSSRTILDANEEFKSMSGTIQLGRKLITKYNRRELTDKLLIFLALALFLATVLYIVKKRLFPFL
"
misc_feature 528..803
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/note="Region: Sec20; pfam03908"
/db_xref="CDD:112708"
variation 105
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:374442163"
variation 108
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:138499959"
variation 114
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="c"
/replace="g"
/db_xref="dbSNP:367711484"
variation 121
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:371311208"
variation 122
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="c"
/replace="t"
/db_xref="dbSNP:142541614"
variation 137
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="c"
/replace="t"
/db_xref="dbSNP:141484846"
variation 146
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="c"
/db_xref="dbSNP:5745100"
variation 152
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="g"
/replace="t"
/db_xref="dbSNP:369298286"
variation 187
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="t"
/db_xref="dbSNP:139140843"
exon 189..281
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/inference="alignment:Splign:1.39.8"
variation 190
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="t"
/db_xref="dbSNP:200496682"
variation 254
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:199670821"
variation 260
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:116173640"
variation 268
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:144179275"
variation 280
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:368441682"
exon 282..410
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/inference="alignment:Splign:1.39.8"
variation 285
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:148654994"
variation 308
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="c"
/replace="t"
/db_xref="dbSNP:180928619"
variation 314
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="c"
/replace="t"
/db_xref="dbSNP:142177831"
variation 363
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="c"
/replace="t"
/db_xref="dbSNP:112777258"
variation 369
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="c"
/db_xref="dbSNP:150838656"
exon 411..502
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/inference="alignment:Splign:1.39.8"
variation 429
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:139989374"
variation 434
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:147710868"
variation 455
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="c"
/db_xref="dbSNP:1050217"
variation 474
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:375205320"
variation 495
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="t"
/db_xref="dbSNP:369206236"
exon 503..621
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/inference="alignment:Splign:1.39.8"
variation 537
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:370658787"
variation 581
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="c"
/replace="t"
/db_xref="dbSNP:200645088"
variation 587
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:144912663"
exon 622..1284
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/inference="alignment:Splign:1.39.8"
variation 638
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:368552578"
variation 680
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="c"
/replace="g"
/db_xref="dbSNP:191156349"
variation 683
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="c"
/db_xref="dbSNP:148974577"
variation 691
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="g"
/replace="t"
/db_xref="dbSNP:143767075"
variation 693
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="c"
/replace="t"
/db_xref="dbSNP:372735517"
variation 694
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:148150409"
variation 701
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="c"
/replace="t"
/db_xref="dbSNP:199630060"
variation 712
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:140286529"
variation 717
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="c"
/replace="t"
/db_xref="dbSNP:375030484"
variation 718
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:199543388"
variation 720
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="c"
/replace="t"
/db_xref="dbSNP:145374992"
variation 730
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="c"
/replace="t"
/db_xref="dbSNP:372089930"
variation 755
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="g"
/replace="t"
/db_xref="dbSNP:137874334"
variation 756
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="c"
/replace="t"
/db_xref="dbSNP:200519451"
variation 773
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="g"
/replace="t"
/db_xref="dbSNP:200068997"
variation 774
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:376725777"
variation 782
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="c"
/replace="t"
/db_xref="dbSNP:202148277"
variation 796
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="t"
/db_xref="dbSNP:368589708"
STS 865..965
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/standard_name="SHGC-10682"
/db_xref="UniSTS:68631"
variation 913
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="c"
/replace="t"
/db_xref="dbSNP:374255019"
variation 916
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="c"
/replace="t"
/db_xref="dbSNP:5745176"
STS 942..1241
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/standard_name="D5S2469"
/db_xref="UniSTS:5282"
variation 994
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:114740904"
variation 1050
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="c"
/replace="t"
/db_xref="dbSNP:8069"
variation 1151
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="c"
/replace="t"
/db_xref="dbSNP:139867168"
variation 1218
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="c"
/replace="t"
/db_xref="dbSNP:187033332"
variation 1231
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="g"
/replace="t"
/db_xref="dbSNP:8543"
polyA_signal 1257..1262
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
variation 1259
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="t"
/db_xref="dbSNP:1050259"
variation 1265
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
/replace="a"
/replace="g"
/db_xref="dbSNP:5745177"
polyA_site 1284
/gene="BNIP1"
/gene_synonym="NIP1; SEC20; TRG-8"
ORIGIN
ctctagggggcgctgccccgagactgggtggggagggaaagaaggtggtgcgaaaacgcgtttgaacttgggtcctgccgctgcccgtagccggcgtccccaacatggcggctccccaagacgtccacgtccggatctgtaaccaagagattgtcaaatttgacctggaggtgaaggcgcttattcaggatatccgtgattgttcaggacccttaagtgctcttactgaactgaatactaaagtaaaagagaaatttcaacagttgcgtcacagaatacagccagttctctatcaaagggcatttatttggactgcttccacatttttttttaagctaacttattccctgacagacttttcttcaactcagcatgacttcaactctccaactacacctgttaccttcagtgacctggagcagttggctaaagagcaagacaaagaatcagagaaacaacttctactccaggaagtggagaatcacaaaaagcagatgctcaggaaaaccaccaaagagagcctggcccagacatccagtaccatcactgagagcctcatggggatcagcaggatgatggcccagcaggtccagcagagcgaggaggccatgcagtctctagtcacttcttcacgaacgatcctggatgcaaatgaagaatttaagtccatgtcgggcaccatccagctgggccggaagcttatcacaaaatacaatcgccgggagctgacggacaagcttctcatcttccttgcgctagccctgtttcttgctacggtcctctatattgtgaaaaagcggctctttccatttttgtgagatcccaaaggtgccagttctggccctttcagctcctgtttcaggatctgtcctggttcctgagctctaggctgctaagctgagccacacacccctccgtttgcaccagttgcctgcaggttggatggaacacagtgccccacttttctgcaagtagctggcttgtaaagggtgaacagagccatgggaggaaggtctggcattgggatgccgccctggggacatacgaaccgcctccttccaccattgtgcactatgggaggccgctgctgcgtggagcacttaaagtccagcctccaggaccggatgcccctcctgtctcccgctcccatcgtgcccttaaatgccagatctggtggagggaagagagaagaggtaggaagaaaggtgatgaaaactcctggtcattccttgaataaacttgattttatttaatagaataaaatgtatttgattttgtaagataaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:662 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:662 -> Biological process: GO:0006914 [autophagy] evidence: IEA
GeneID:662 -> Biological process: GO:0006915 [apoptotic process] evidence: IPI
GeneID:662 -> Biological process: GO:0006917 [induction of apoptosis] evidence: IMP
GeneID:662 -> Biological process: GO:0007029 [endoplasmic reticulum organization] evidence: IMP
GeneID:662 -> Biological process: GO:0016192 [vesicle-mediated transport] evidence: IEA
GeneID:662 -> Biological process: GO:0016320 [endoplasmic reticulum membrane fusion] evidence: IMP
GeneID:662 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS
GeneID:662 -> Biological process: GO:0097194 [execution phase of apoptosis] evidence: IC
GeneID:662 -> Cellular component: GO:0005635 [nuclear envelope] evidence: IDA
GeneID:662 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:662 -> Cellular component: GO:0005739 [mitochondrion] evidence: IEA
GeneID:662 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: IDA
GeneID:662 -> Cellular component: GO:0030176 [integral to endoplasmic reticulum membrane] evidence: TAS
GeneID:662 -> Cellular component: GO:0031201 [SNARE complex] evidence: IDA
GeneID:662 -> Cellular component: GO:0043231 [intracellular membrane-bounded organelle] evidence: IDA
by
@meso_cacase at
DBCLS
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