2024-03-29 17:53:52, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_013979 1388 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA. ACCESSION NM_013979 VERSION NM_013979.2 GI:153946398 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 1388) 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 1388) 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 1388) 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 1388) 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 1388) 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 1388) 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 1388) 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 1388) 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 1388) 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 1388) 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, AF083957.1, BC010959.1 and BP384034.1. On Jul 26, 2007 this sequence version replaced gi:7524349. 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-b contains a 129-nucleotide in-frame insertion relative to the full-length BNIP1 variant. This variant contains a fully conserved BH3 domain which has been associated with pro-apoptotic function. 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 :: AF083957.1, BG740631.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025086 [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 96-860 AF083957.1 2-766 861-1379 BC010959.1 657-1175 1380-1388 BP384034.1 328-336 FEATURES Location/Qualifiers source 1..1388 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="5" /map="5q33-q34" gene 1..1388 /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..920 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /note="isoform BNIP1-b is encoded by transcript variant BNIP1-b; 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-b" /protein_id="NP_053582.2" /db_xref="GI:153946399" /db_xref="CCDS:CCDS4385.1" /db_xref="GeneID:662" /db_xref="HGNC:1082" /db_xref="MIM:603291" /translation="
MAAPQDVHVRICNQEIVKFDLEVKALIQDIRDCSGPLSALTELNTKVKEKFQQLRHRIQPVLYQRAFIWTASTFFFKLTYSLTDFSSTQHDFNSPTTPVTFSDLEQLAKEQDKESEKQLLLQEVENHKKQMLSNQASWRKANLTCKIAIDNLEKAELLQGGDLLRQRKTTKESLAQTSSTITESLMGISRMMAQQVQQSEEAMQSLVTSSRTILDANEEFKSMSGTIQLGRKLITKYNRRELTDKLLIFLALALFLATVLYIVKKRLFPFL
" misc_feature 630..905 /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..604 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /inference="alignment:Splign:1.39.8" variation 512 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="c" /replace="t" /db_xref="dbSNP:147666879" variation 551 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="c" /replace="t" /db_xref="dbSNP:142359158" variation 552 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="a" /replace="g" /db_xref="dbSNP:370583969" exon 605..723 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /inference="alignment:Splign:1.39.8" variation 639 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="a" /replace="g" /db_xref="dbSNP:370658787" variation 683 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="c" /replace="t" /db_xref="dbSNP:200645088" variation 689 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="a" /replace="g" /db_xref="dbSNP:144912663" exon 724..1386 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /inference="alignment:Splign:1.39.8" variation 740 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="a" /replace="g" /db_xref="dbSNP:368552578" variation 782 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="c" /replace="g" /db_xref="dbSNP:191156349" variation 785 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="a" /replace="c" /db_xref="dbSNP:148974577" variation 793 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="g" /replace="t" /db_xref="dbSNP:143767075" variation 795 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="c" /replace="t" /db_xref="dbSNP:372735517" variation 796 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="a" /replace="g" /db_xref="dbSNP:148150409" variation 803 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="c" /replace="t" /db_xref="dbSNP:199630060" variation 814 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="a" /replace="g" /db_xref="dbSNP:140286529" variation 819 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="c" /replace="t" /db_xref="dbSNP:375030484" variation 820 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="a" /replace="g" /db_xref="dbSNP:199543388" variation 822 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="c" /replace="t" /db_xref="dbSNP:145374992" variation 832 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="c" /replace="t" /db_xref="dbSNP:372089930" variation 857 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="g" /replace="t" /db_xref="dbSNP:137874334" variation 858 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="c" /replace="t" /db_xref="dbSNP:200519451" variation 875 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="g" /replace="t" /db_xref="dbSNP:200068997" variation 876 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="a" /replace="g" /db_xref="dbSNP:376725777" variation 884 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="c" /replace="t" /db_xref="dbSNP:202148277" variation 898 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="a" /replace="t" /db_xref="dbSNP:368589708" STS 967..1067 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /standard_name="SHGC-10682" /db_xref="UniSTS:68631" variation 1015 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="c" /replace="t" /db_xref="dbSNP:374255019" variation 1018 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="c" /replace="t" /db_xref="dbSNP:5745176" STS 1044..1343 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /standard_name="D5S2469" /db_xref="UniSTS:5282" variation 1096 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="a" /replace="g" /db_xref="dbSNP:114740904" variation 1152 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="c" /replace="t" /db_xref="dbSNP:8069" variation 1253 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="c" /replace="t" /db_xref="dbSNP:139867168" variation 1320 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="c" /replace="t" /db_xref="dbSNP:187033332" variation 1333 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="g" /replace="t" /db_xref="dbSNP:8543" polyA_signal 1359..1365 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" variation 1361 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="a" /replace="t" /db_xref="dbSNP:1050259" variation 1367 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" /replace="a" /replace="g" /db_xref="dbSNP:5745177" polyA_site 1386 /gene="BNIP1" /gene_synonym="NIP1; SEC20; TRG-8" ORIGIN
ctctagggggcgctgccccgagactgggtggggagggaaagaaggtggtgcgaaaacgcgtttgaacttgggtcctgccgctgcccgtagccggcgtccccaacatggcggctccccaagacgtccacgtccggatctgtaaccaagagattgtcaaatttgacctggaggtgaaggcgcttattcaggatatccgtgattgttcaggacccttaagtgctcttactgaactgaatactaaagtaaaagagaaatttcaacagttgcgtcacagaatacagccagttctctatcaaagggcatttatttggactgcttccacatttttttttaagctaacttattccctgacagacttttcttcaactcagcatgacttcaactctccaactacacctgttaccttcagtgacctggagcagttggctaaagagcaagacaaagaatcagagaaacaacttctactccaggaagtggagaatcacaaaaagcagatgctcagcaatcaggcctcatggaggaaagctaatctcacctgcaaaattgcaatcgacaatctagagaaagcagaacttcttcagggaggagatctcttaaggcaaaggaaaaccaccaaagagagcctggcccagacatccagtaccatcactgagagcctcatggggatcagcaggatgatggcccagcaggtccagcagagcgaggaggccatgcagtctctagtcacttcttcacgaacgatcctggatgcaaatgaagaatttaagtccatgtcgggcaccatccagctgggccggaagcttatcacaaaatacaatcgccgggagctgacggacaagcttctcatcttccttgcgctagccctgtttcttgctacggtcctctatattgtgaaaaagcggctctttccatttttgtgagatcccaaaggtgccagttctggccctttcagctcctgtttcaggatctgtcctggttcctgagctctaggctgctaagctgagccacacacccctccgtttgcaccagttgcctgcaggttggatggaacacagtgccccacttttctgcaagtagctggcttgtaaagggtgaacagagccatgggaggaaggtctggcattgggatgccgccctggggacatacgaaccgcctccttccaccattgtgcactatgggaggccgctgctgcgtggagcacttaaagtccagcctccaggaccggatgcccctcctgtctcccgctcccatcgtgcccttaaatgccagatctggtggagggaagagagaagaggtaggaagaaaggtgatgaaaactcctggtcattccttgaataaacttgattttatttaatagaataaaatgtatttgattttgtaagataaa
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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
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