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2024-04-25 16:58:03, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001114735 955 bp mRNA linear PRI 26-MAY-2013
DEFINITION Homo sapiens BCL2-related protein A1 (BCL2A1), transcript variant
2, mRNA.
ACCESSION NM_001114735
VERSION NM_001114735.1 GI:168480071
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 955)
AUTHORS Haq,R., Yokoyama,S., Hawryluk,E.B., Jonsson,G.B., Frederick,D.T.,
McHenry,K., Porter,D., Tran,T.N., Love,K.T., Langer,R.,
Anderson,D.G., Garraway,L.A., Duncan,L.M., Morton,D.L., Hoon,D.S.,
Wargo,J.A., Song,J.S. and Fisher,D.E.
TITLE BCL2A1 is a lineage-specific antiapoptotic melanoma oncogene that
confers resistance to BRAF inhibition
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 110 (11), 4321-4326 (2013)
PUBMED 23447565
REMARK GeneRIF: MITF-BCL2A1 as a lineage-specific oncogenic pathway in
melanoma and underscore its role for improved response to
BRAF-directed therapy.
REFERENCE 2 (bases 1 to 955)
AUTHORS Oh,J., Kim,S.H., Ahn,S. and Lee,C.E.
TITLE Suppressors of cytokine signaling promote Fas-induced apoptosis
through downregulation of NF-kappaB and mitochondrial Bfl-1 in
leukemic T cells
JOURNAL J. Immunol. 189 (12), 5561-5571 (2012)
PUBMED 23152563
REMARK GeneRIF: Mitochondrial antiapoptotic factor Bfl-1 is significantly
reduced by suppressor of cytokine signaling (SOCS)1.
REFERENCE 3 (bases 1 to 955)
AUTHORS Cruz-Munoz,W., Jaramillo,M.L., Man,S., Xu,P., Banville,M.,
Collins,C., Nantel,A., Francia,G., Morgan,S.S., Cranmer,L.D.,
O'Connor-McCourt,M.D. and Kerbel,R.S.
TITLE Roles for endothelin receptor B and BCL2A1 in spontaneous CNS
metastasis of melanoma
JOURNAL Cancer Res. 72 (19), 4909-4919 (2012)
PUBMED 22865454
REMARK GeneRIF: Data indicate that BCL2a1 expression enhances tumor cell
survival in nervous system (CNS) leading to intracranial tumor
growth.
REFERENCE 4 (bases 1 to 955)
AUTHORS Metais,J.Y., Winkler,T., Geyer,J.T., Calado,R.T., Aplan,P.D.,
Eckhaus,M.A. and Dunbar,C.E.
TITLE BCL2A1a over-expression in murine hematopoietic stem and progenitor
cells decreases apoptosis and results in hematopoietic
transformation
JOURNAL PLoS ONE 7 (10), E48267 (2012)
PUBMED 23118966
REMARK GeneRIF: Bcl2a1 should be considered as a proto-oncogene with a
potential role in both lymphoid and myeloid leukemogenesis
REFERENCE 5 (bases 1 to 955)
AUTHORS Valero,J.G., Cornut-Thibaut,A., Juge,R., Debaud,A.L., Gimenez,D.,
Gillet,G., Bonnefoy-Berard,N., Salgado,J., Salles,G., Aouacheria,A.
and Kucharczak,J.
TITLE micro-Calpain conversion of antiapoptotic Bfl-1 (BCL2A1) into a
prodeath factor reveals two distinct alpha-helices inducing
mitochondria-mediated apoptosis
JOURNAL PLoS ONE 7 (6), E38620 (2012)
PUBMED 22745672
REMARK GeneRIF: Data demonstrate that calpain-mediated cleavage of
full-length Bfl-1 induces the release of C-terminal membrane active
alpha-helices that are responsible for its conversion into a
pro-apoptotic factor.
REFERENCE 6 (bases 1 to 955)
AUTHORS Karsan,A., Yee,E. and Harlan,J.M.
TITLE Endothelial cell death induced by tumor necrosis factor-alpha is
inhibited by the Bcl-2 family member, A1
JOURNAL J. Biol. Chem. 271 (44), 27201-27204 (1996)
PUBMED 8910286
REFERENCE 7 (bases 1 to 955)
AUTHORS Karsan,A., Yee,E., Kaushansky,K. and Harlan,J.M.
TITLE Cloning of human Bcl-2 homologue: inflammatory cytokines induce
human A1 in cultured endothelial cells
JOURNAL Blood 87 (8), 3089-3096 (1996)
PUBMED 8605321
REFERENCE 8 (bases 1 to 955)
AUTHORS Choi,S.S., Park,I.C., Yun,J.W., Sung,Y.C., Hong,S.I. and Shin,H.S.
TITLE A novel Bcl-2 related gene, Bfl-1, is overexpressed in stomach
cancer and preferentially expressed in bone marrow
JOURNAL Oncogene 11 (9), 1693-1698 (1995)
PUBMED 7478596
REFERENCE 9 (bases 1 to 955)
AUTHORS Savitsky,K., Sfez,S., Tagle,D.A., Ziv,Y., Sartiel,A., Collins,F.S.,
Shiloh,Y. and Rotman,G.
TITLE The complete sequence of the coding region of the ATM gene reveals
similarity to cell cycle regulators in different species
JOURNAL Hum. Mol. Genet. 4 (11), 2025-2032 (1995)
PUBMED 8589678
REFERENCE 10 (bases 1 to 955)
AUTHORS Lin,E.Y., Orlofsky,A., Berger,M.S. and Prystowsky,M.B.
TITLE Characterization of A1, a novel hemopoietic-specific early-response
gene with sequence similarity to bcl-2
JOURNAL J. Immunol. 151 (4), 1979-1988 (1993)
PUBMED 8345191
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BG198875.1, AY234180.1,
CD640106.1 and BG204033.1.
This sequence is a reference standard in the RefSeqGene project.
Summary: This gene encodes a member of the BCL-2 protein family.
The proteins of this family form hetero- or homodimers and act as
anti- and pro-apoptotic regulators that are involved in a wide
variety of cellular activities such as embryonic development,
homeostasis and tumorigenesis. The protein encoded by this gene is
able to reduce the release of pro-apoptotic cytochrome c from
mitochondria and block caspase activation. This gene is a direct
transcription target of NF-kappa B in response to inflammatory
mediators, and is up-regulated by different extracellular signals,
such as granulocyte-macrophage colony-stimulating factor (GM-CSF),
CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which
suggests a cytoprotective function that is essential for lymphocyte
activation as well as cell survival. Alternatively spliced
transcript variants encoding different isoforms have been found for
this gene. [provided by RefSeq, Jul 2008].
Transcript Variant: This variant (2) has an additional exon in the
coding region, as compared to variant 1. The resulting isoform (2)
has a different and shorter C-terminus, as compared to isoform 1.
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 :: CD640106.1, AL110097.1 [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
1-174 BG198875.1 147-320
175-622 AY234180.1 1-448
623-658 CD640106.1 389-424
659-955 BG204033.1 4-300
FEATURES Location/Qualifiers
source 1..955
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q24.3"
gene 1..955
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/note="BCL2-related protein A1"
/db_xref="GeneID:597"
/db_xref="HGNC:991"
/db_xref="MIM:601056"
exon 1..602
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/inference="alignment:Splign:1.39.8"
misc_feature 108..110
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/note="upstream in-frame stop codon"
CDS 183..674
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/note="isoform 2 is encoded by transcript variant 2;
hematopoietic BCL2-related protein A1; bcl2-L-5; protein
BFL-1; bcl-2-like protein 5; hemopoietic-specific early
response protein"
/codon_start=1
/product="bcl-2-related protein A1 isoform 2"
/protein_id="NP_001108207.1"
/db_xref="GI:168480072"
/db_xref="CCDS:CCDS45322.1"
/db_xref="GeneID:597"
/db_xref="HGNC:991"
/db_xref="MIM:601056"
/translation="
MTDCEFGYIYRLAQDYLQCVLQIPQPGSGPSKTSRVLQNVAFSVQKEVEKNLKSCLDNVNVVSVDTARTLFNQVMEKEFEDGIINWGRIVTIFAFEGILIKKLLRQQIAPDVDTYKEISYFVAEFIMNNTGEWIRQNGGWGKWHNHTPMLVESVAHKKRKMAL
"
misc_feature 210..602
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/note="Apoptosis regulator proteins of the Bcl-2 family,
named after B-cell lymphoma 2. This alignment model spans
what have been described as Bcl-2 homology regions BH1,
BH2, BH3, and BH4. Many members of this family have an
additional C-terminal transmembrane...; Region:
Bcl-2_like; cd06845"
/db_xref="CDD:132900"
misc_feature 210..242
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/note="BH4; other site"
/db_xref="CDD:132900"
misc_feature 291..317
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/note="BH3; other site"
/db_xref="CDD:132900"
misc_feature order(300..305,309..314,324..326,333..338,387..392,
399..404,411..416,435..437,441..446,450..455,465..467,
477..479)
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/note="BH3-homology region binding site; other site"
/db_xref="CDD:132900"
misc_feature 411..473
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q16548.1);
Region: BH1"
misc_feature order(411..419,432..470)
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/note="BH1; other site"
/db_xref="CDD:132900"
misc_feature 576..602
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/note="BH2; other site"
/db_xref="CDD:132900"
STS 210..524
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/standard_name="PMC97140P1"
/db_xref="UniSTS:273642"
variation 238
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1138357"
variation 281
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:34505045"
variation 299
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1138358"
variation 427
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:3826007"
variation 533
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/replace="g"
/replace="t"
/db_xref="dbSNP:34080999"
variation 541
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/replace="a"
/replace="t"
/db_xref="dbSNP:11555732"
exon 603..658
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/inference="alignment:Splign:1.39.8"
exon 659..943
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/inference="alignment:Splign:1.39.8"
STS 682..838
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/standard_name="SHGC-64943"
/db_xref="UniSTS:75641"
STS 685..839
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/standard_name="STS-U27467"
/db_xref="UniSTS:9263"
STS 685..838
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/standard_name="RH68628"
/db_xref="UniSTS:20301"
STS 731..830
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/standard_name="D10S1618E"
/db_xref="UniSTS:153925"
STS 766..915
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
/standard_name="SHGC-35552"
/db_xref="UniSTS:8795"
polyA_signal 917..922
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
polyA_site 943
/gene="BCL2A1"
/gene_synonym="ACC-1; ACC-2; BCL2L5; BFL1; GRS; HBPA1"
ORIGIN
agcctacgcacgaaagtgactaggaggaaggatattataaagtgatgcaaacagaaattccaccagcctccatgtatcatcatgtgtcataactcagtcaagctcagtgagcattctcagcacattgcctcaacagcttcaaggtgagccagctcaagactttgctctccaccaggcagaagatgacagactgtgaatttggatatatttacaggctggctcaggactatctgcagtgcgtcctacagataccacaacctggatcaggtccaagcaaaacgtccagagtgctacaaaatgttgcgttctcagtccaaaaagaagtggaaaagaatctgaagtcatgcttggacaatgttaatgttgtgtccgtagacactgccagaacactattcaaccaagtgatggaaaaggagtttgaagacggcatcattaactggggaagaattgtaaccatatttgcatttgaaggtattctcatcaagaaacttctacgacagcaaattgccccggatgtggatacctataaggagatttcatattttgttgcggagttcataatgaataacacaggagaatggataaggcaaaacggaggctgggggaaatggcacaatcacacacctatgctggtagagtcagtggcccacaagaagaggaaaatggctttgtaaagaagtttgaacctaaatctggctggatgacttttctagaagttacaggaaagatctgtgaaatgctatctctcctgaagcaatactgttgaccagaaaggacactccatattgtgaaaccggcctaatttttctgactgatatggaaacgattgccaacacatacttctacttttaaataaacaactttgatgatgtaacttgaccttccagagttatggaaattttgtccccatgtaatgaataaattgtatgtatttttctctataaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:597 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:597 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:597 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IEA
GeneID:597 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
by
@meso_cacase at
DBCLS
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