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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:

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

by @meso_cacase at DBCLS
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