2024-03-29 20:13:47, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_003806 1499 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens harakiri, BCL2 interacting protein (contains only BH3 domain) (HRK), transcript variant 1, mRNA. ACCESSION NM_003806 VERSION NM_003806.2 GI:409264521 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 1499) AUTHORS Santiveri,C.M., Sborgi,L. and de Alba,E. TITLE Nuclear magnetic resonance study of protein-protein interactions involving apoptosis regulator Diva (Boo) and the BH3 domain of proapoptotic Bcl-2 members JOURNAL J. Mol. Recognit. 25 (12), 665-673 (2012) PUBMED 23192964 REMARK GeneRIF: Diva binds peptides derived from the BH3 domain of several other proapoptotic Bcl-2 proteins, including mouse Harakiri, Bid, Bak and Bmf. REFERENCE 2 (bases 1 to 1499) AUTHORS Pike,L.R., Phadwal,K., Simon,A.K. and Harris,A.L. TITLE ATF4 orchestrates a program of BH3-only protein expression in severe hypoxia JOURNAL Mol. Biol. Rep. 39 (12), 10811-10822 (2012) PUBMED 23090478 REMARK GeneRIF: The BH3-only protein harakiri (HRK) is transactivated by ATF4 in severe hypoxia through direct binding of ATF4 to the promoter region. REFERENCE 3 (bases 1 to 1499) AUTHORS Li,H., Cai,Q., Wu,H., Vathipadiekal,V., Dobbin,Z.C., Li,T., Hua,X., Landen,C.N., Birrer,M.J., Sanchez-Beato,M. and Zhang,R. TITLE SUZ12 promotes human epithelial ovarian cancer by suppressing apoptosis via silencing HRK JOURNAL Mol. Cancer Res. 10 (11), 1462-1472 (2012) PUBMED 22964433 REMARK GeneRIF: SUZ12 promotes the proliferation of human EOC cells by inhibiting apoptosis and HRK is a novel SUZ12 target gene whose upregulation contributes to apoptosis induced by SUZ12 knockdown. REFERENCE 4 (bases 1 to 1499) AUTHORS Cunha,D.A., Igoillo-Esteve,M., Gurzov,E.N., Germano,C.M., Naamane,N., Marhfour,I., Fukaya,M., Vanderwinden,J.M., Gysemans,C., Mathieu,C., Marselli,L., Marchetti,P., Harding,H.P., Ron,D., Eizirik,D.L. and Cnop,M. TITLE Death protein 5 and p53-upregulated modulator of apoptosis mediate the endoplasmic reticulum stress-mitochondrial dialog triggering lipotoxic rodent and human beta-cell apoptosis JOURNAL Diabetes 61 (11), 2763-2775 (2012) PUBMED 22773666 REMARK GeneRIF: Data suggest that DP5 and PUMA/BBC3 (p53 up-regulated modulator of apoptosis/bcl-2-binding component 3) contribute to palmitate-induced apoptosis of pancreatic beta-cells via lipotoxic endoplasmic reticulum stress. REFERENCE 5 (bases 1 to 1499) AUTHORS Higuchi,T., Nakamura,M., Shimada,K., Ishida,E., Hirao,K. and Konishi,N. TITLE HRK inactivation associated with promoter methylation and LOH in prostate cancer JOURNAL Prostate 68 (1), 105-113 (2008) PUBMED 18008329 REMARK GeneRIF: HRK appears to be inactivated principally by promoter hypermethylation in prostate cancers and decreased expression may play an important role in tumor progression by modulating apoptotic cell death REFERENCE 6 (bases 1 to 1499) AUTHORS Bae,J., Hsu,S.Y., Leo,C.P., Zell,K. and Hsueh,A.J. TITLE Underphosphorylated BAD interacts with diverse antiapoptotic Bcl-2 family proteins to regulate apoptosis JOURNAL Apoptosis 6 (5), 319-330 (2001) PUBMED 11483855 REFERENCE 7 (bases 1 to 1499) AUTHORS Sanz,C., Mellstrom,B., Link,W.A., Naranjo,J.R. and Fernandez-Luna,J.L. TITLE Interleukin 3-dependent activation of DREAM is involved in transcriptional silencing of the apoptotic Hrk gene in hematopoietic progenitor cells JOURNAL EMBO J. 20 (9), 2286-2292 (2001) PUBMED 11331593 REFERENCE 8 (bases 1 to 1499) AUTHORS Imaizumi,K., Morihara,T., Mori,Y., Katayama,T., Tsuda,M., Furuyama,T., Wanaka,A., Takeda,M. and Tohyama,M. TITLE The cell death-promoting gene DP5, which interacts with the BCL2 family, is induced during neuronal apoptosis following exposure to amyloid beta protein JOURNAL J. Biol. Chem. 274 (12), 7975-7981 (1999) PUBMED 10075695 REFERENCE 9 (bases 1 to 1499) AUTHORS Imaizumi,K., Tsuda,M., Imai,Y., Wanaka,A., Takagi,T. and Tohyama,M. TITLE Molecular cloning of a novel polypeptide, DP5, induced during programmed neuronal death JOURNAL J. Biol. Chem. 272 (30), 18842-18848 (1997) PUBMED 9228060 REFERENCE 10 (bases 1 to 1499) AUTHORS Inohara,N., Ding,L., Chen,S. and Nunez,G. TITLE harakiri, a novel regulator of cell death, encodes a protein that activates apoptosis and interacts selectively with survival-promoting proteins Bcl-2 and Bcl-X(L) JOURNAL EMBO J. 16 (7), 1686-1694 (1997) PUBMED 9130713 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from U76376.1 and AC083806.16. On Oct 20, 2012 this sequence version replaced gi:4504492. Summary: This gene encodes a member of the BCL-2 protein family. Members of this family are involved in activating or inhibiting apoptosis. The encoded protein localizes to intracellular membranes. This protein promotes apoptosis by interacting with the apoptotic inhibitors BCL-2 and BCL-X(L) via its BH3 domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]. Transcript Variant: This variant (1) encodes the functional protein. 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. CCDS Note: This CCDS ID represents the protein described in PMID: 9130713 and 9228060. This transcript is supported by BF510077.1. It should be noted this transcript is predicted to undergo nonsense-mediated mRNA decay (NMD). However, the protein is represented because it was detected endogenously PMID: 18008329. It is likely that the majority of transcripts representing this variant will undergo NMD, while some low level of NMD escape may allow for the expression of this protein. 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 :: D83699.1, HY075247.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## NMD candidate :: translation inferred from conservation ##RefSeq-Attributes-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-697 U76376.1 1-697 698-1499 AC083806.16 100892-101693 FEATURES Location/Qualifiers source 1..1499 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="12" /map="12q24.22" gene 1..1499 /gene="HRK" /gene_synonym="DP5; HARAKIRI" /note="harakiri, BCL2 interacting protein (contains only BH3 domain)" /db_xref="GeneID:8739" /db_xref="HGNC:5185" /db_xref="HPRD:04581" /db_xref="MIM:603447" exon 1..452 /gene="HRK" /gene_synonym="DP5; HARAKIRI" /inference="alignment:Splign:1.39.8" STS 4..546 /gene="HRK" /gene_synonym="DP5; HARAKIRI" /db_xref="UniSTS:487026" variation complement(31) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="a" /replace="g" /db_xref="dbSNP:146607495" STS 65..457 /gene="HRK" /gene_synonym="DP5; HARAKIRI" /db_xref="UniSTS:485581" CDS 121..396 /gene="HRK" /gene_synonym="DP5; HARAKIRI" /note="activator of apoptosis Hrk; death protein 5; BCL2-interacting protein; neuronal death protein DP5; BH3-interacting domain-containing protein 3" /codon_start=1 /product="activator of apoptosis harakiri" /protein_id="NP_003797.1" /db_xref="GI:4504493" /db_xref="CCDS:CCDS9181.1" /db_xref="GeneID:8739" /db_xref="HGNC:5185" /db_xref="HPRD:04581" /db_xref="MIM:603447" /translation="
MCPCPLHRGRGPPAVCACSAGRLGLRSSAAQLTAARLKALGDELHQRTMWRRRARSRRAPAPGALPTYWPWLCAAAQVAALAAWLLGRRNL
" misc_feature 217..261 /gene="HRK" /gene_synonym="DP5; HARAKIRI" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (O00198.1); Region: BH3" misc_feature 325..381 /gene="HRK" /gene_synonym="DP5; HARAKIRI" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (O00198.1); transmembrane region" variation complement(262) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="a" /replace="t" /db_xref="dbSNP:12228937" variation complement(334) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="c" /replace="t" /db_xref="dbSNP:12311393" variation complement(350) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="a" /replace="c" /db_xref="dbSNP:79110608" exon 453..1499 /gene="HRK" /gene_synonym="DP5; HARAKIRI" /inference="alignment:Splign:1.39.8" variation complement(530) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="c" /replace="g" /db_xref="dbSNP:369709014" variation complement(541) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="c" /replace="t" /db_xref="dbSNP:117411094" variation complement(646) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="a" /replace="g" /db_xref="dbSNP:375660728" variation complement(670) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="c" /replace="t" /db_xref="dbSNP:140981757" variation complement(674) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="c" /replace="t" /db_xref="dbSNP:373821772" polyA_site 697 /gene="HRK" /gene_synonym="DP5; HARAKIRI" variation complement(717) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="c" /replace="t" /db_xref="dbSNP:187643968" variation complement(753) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="a" /replace="g" /db_xref="dbSNP:146487775" variation complement(755) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="a" /replace="t" /db_xref="dbSNP:182260192" variation complement(822) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="c" /replace="t" /db_xref="dbSNP:144251695" variation complement(960) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="a" /replace="g" /db_xref="dbSNP:189664272" variation complement(999) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="c" /replace="g" /db_xref="dbSNP:185596289" variation complement(1024) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="a" /replace="g" /db_xref="dbSNP:60404454" variation complement(1072) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="a" /replace="g" /db_xref="dbSNP:181268729" variation complement(1160) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="c" /replace="t" /db_xref="dbSNP:369917037" variation complement(1193) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="" /replace="t" /replace="ttt" /db_xref="dbSNP:10718774" variation complement(1208) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="a" /replace="t" /db_xref="dbSNP:201618312" variation complement(1208) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="" /replace="t" /db_xref="dbSNP:35004626" variation complement(1247..1249) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="" /replace="ctc" /db_xref="dbSNP:144544593" variation complement(1392) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="c" /replace="t" /db_xref="dbSNP:139612411" variation complement(1408) /gene="HRK" /gene_synonym="DP5; HARAKIRI" /replace="a" /replace="g" /db_xref="dbSNP:11068213" ORIGIN
gaaacttggtgtccaggggaggcccccggcggctggagcgcggcggcagcgggcgcagaggccggagggagaggaggcgaggggcggcccgagcgcggggcgggagcgaggccagcggtcatgtgcccgtgccccctgcaccgcggccgcggccccccggccgtgtgcgcctgcagcgcgggtcgcctggggctgcgctcgtccgccgcgcagctcaccgccgcccggctcaaggcgctaggcgacgagctgcaccagcgcaccatgtggcggcgccgcgcgcggagccggagggcgccggcgcccggcgcgctccccacctactggccttggctgtgcgcggccgcgcaggtggcggcgctggcggcctggctgctcggcaggcggaacttgtaggaacgcggggcttcttggtggggccggagccgagacccagccggagcgagcaacaggttggtgaaaaccctgtgtccttggagaaagctggttcccgttttccagagggggagcccagagcttgaaaggccgcggttggcacttcgagaaggaagtggagagtaaagacagcgcctggagcgatcgtagaaacacagaatgggactggggaagccctttggaaatccagctgcagaaacagacaccccaatgctatttacatacagctctatatatataaaaaaagaaaatatgaatattacgtatcagtgcatgccttgttgaggacgtggttgccttccttttctgcaccttgcgatgtgaactttgatattctgtaatgtctggggcgccagaagagagatgcctgctgtgtacttagaaactatttgcaaagactggtgggaattagccccagcatcggccaactgcctggggatagatgctggtggaataagaggtaacagtgcaaaaggcatgatagaaaaaaaaagtgaggacttgggaccgattgtgtaggggcagtctgggatgcctccatttcttgactcgtcctagcctctccctctgtacttacctaggtcgatcgctagatcccactgtcacgtcaagagaaatgggatttttgtgtctctggtgcttcacttaaaattttgctggtgctaagtgcgttcctgctggtgctgctgtggtattctgttgacagacttggaaggccaggggacaagagagatttctattttgctgtttcagattcttttttttttttttttaagggacaagttgcaaaagtgccacttgagagtctcttctcttcttctacctggggacgaatatccagaggtggtttggagcaaaccttggggtctaggagggaggatggcattgagaggcttgctggttatgaggcagaaagctgacctcatgcatgacttggttgctatctcccccacccccacaaaagtgtcctcggagttcagcccacagcctcctccactccccaaggggatttcagggtttaggttttatggattaaagagccaagaaatggctacattctgttc
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:8739 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:8739 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:8739 -> Biological process: GO:0006917 [induction of apoptosis] evidence: TAS GeneID:8739 -> Biological process: GO:0032464 [positive regulation of protein homooligomerization] evidence: IDA GeneID:8739 -> Biological process: GO:0043065 [positive regulation of apoptotic process] evidence: IMP GeneID:8739 -> Biological process: GO:0090200 [positive regulation of release of cytochrome c from mitochondria] evidence: IDA GeneID:8739 -> Cellular component: GO:0005739 [mitochondrion] evidence: IDA GeneID:8739 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
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