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2024-04-25 18:17:22, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_004323 3885 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens BCL2-associated athanogene (BAG1), transcript variant
1, mRNA.
ACCESSION NM_004323
VERSION NM_004323.5 GI:288915524
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 3885)
AUTHORS van der Zee,J.A., Ten Hagen,T.L., Hop,W.C., van Dekken,H.,
Dicheva,B.M., Seynhaeve,A.L., Koning,G.A., Eggermont,A.M. and van
Eijck,C.H.
TITLE Bcl-2 associated anthanogen-1 (Bag-1) expression and prognostic
value in pancreatic head and periampullary cancer
JOURNAL Eur. J. Cancer 49 (2), 323-328 (2013)
PUBMED 22939115
REMARK GeneRIF: The expression of anti-apoptosis gene Bcl-2 associated
anthanogen-1 (Bag-1), has been associated with outcome in several
cancer types, however its prognostic role in pancreatic cancer is
unknown.
REFERENCE 2 (bases 1 to 3885)
AUTHORS Collard,T.J., Urban,B.C., Patsos,H.A., Hague,A., Townsend,P.A.,
Paraskeva,C. and Williams,A.C.
TITLE The retinoblastoma protein (Rb) as an anti-apoptotic factor:
expression of Rb is required for the anti-apoptotic function of
BAG-1 protein in colorectal tumour cells
JOURNAL Cell Death Dis 3, E408 (2012)
PUBMED 23059827
REMARK GeneRIF: BAG-1 is highly expressed in the majority of colorectal
tumours, targeting the Rb-BAG-1 complex to promote apoptosis.
Publication Status: Online-Only
REFERENCE 3 (bases 1 to 3885)
AUTHORS Maddalo,D., Neeb,A., Jehle,K., Schmitz,K., Muhle-Goll,C.,
Shatkina,L., Walther,T.V., Bruchmann,A., Gopal,S.M., Wenzel,W.,
Ulrich,A.S. and Cato,A.C.
TITLE A peptidic unconjugated GRP78/BiP ligand modulates the unfolded
protein response and induces prostate cancer cell death
JOURNAL PLoS ONE 7 (10), E45690 (2012)
PUBMED 23049684
REMARK GeneRIF: A peptide sequence derived from the cochaperone Bag-1
modulates the unfolded protein response and induces prostate cancer
cell death.(
REFERENCE 4 (bases 1 to 3885)
AUTHORS Liu,H.Y., Wang,Z.M., Bai,Y., Wang,M., Li,Y., Wei,S., Zhou,Q.H. and
Chen,J.
TITLE Different BAG-1 isoforms have distinct functions in modulating
chemotherapeutic-induced apoptosis in breast cancer cells
JOURNAL Acta Pharmacol. Sin. 30 (2), 235-241 (2009)
PUBMED 19151744
REMARK GeneRIF: Distinct isoforms of BAG-1 have different anti-apoptotic
functions in breast cancer cells, and that the BAG-1 p50 isoform
can potentiate the role of estrogen in ER-positive breast cancer.
REFERENCE 5 (bases 1 to 3885)
AUTHORS Lee,S.S., Crabb,S.J., Janghra,N., Carlberg,C., Williams,A.C.,
Cutress,R.I., Packham,G. and Hague,A.
TITLE Subcellular localisation of BAG-1 and its regulation of vitamin D
receptor-mediated transactivation and involucrin expression in oral
keratinocytes: implications for oral carcinogenesis
JOURNAL Exp. Cell Res. 313 (15), 3222-3238 (2007)
PUBMED 17662274
REMARK GeneRIF: BAG-1L endogenously regulates gene expression by
potentiating nuclear hormone receptor function and a role for
BAG-1L in 24-hydroxylase regulation of vitamin D metabolism and the
cellular response of oral keratinocytes to
1alpha,25-dihydroxyvitamin D3.
REFERENCE 6 (bases 1 to 3885)
AUTHORS Yang,X., Chernenko,G., Hao,Y., Ding,Z., Pater,M.M., Pater,A. and
Tang,S.C.
TITLE Human BAG-1/RAP46 protein is generated as four isoforms by
alternative translation initiation and overexpressed in cancer
cells
JOURNAL Oncogene 17 (8), 981-989 (1998)
PUBMED 9747877
REFERENCE 7 (bases 1 to 3885)
AUTHORS Takayama,S., Krajewski,S., Krajewska,M., Kitada,S., Zapata,J.M.,
Kochel,K., Knee,D., Scudiero,D., Tudor,G., Miller,G.J.,
Miyashita,T., Yamada,M. and Reed,J.C.
TITLE Expression and location of Hsp70/Hsc-binding anti-apoptotic protein
BAG-1 and its variants in normal tissues and tumor cell lines
JOURNAL Cancer Res. 58 (14), 3116-3131 (1998)
PUBMED 9679980
REMARK GeneRIF: Alternate protein isoforms arise through the use of a
non-AUG (CUG) codon in addition to downstream in-frame AUG codons.
REFERENCE 8 (bases 1 to 3885)
AUTHORS Packham,G., Brimmell,M. and Cleveland,J.L.
TITLE Mammalian cells express two differently localized Bag-1 isoforms
generated by alternative translation initiation
JOURNAL Biochem. J. 328 (PT 3), 807-813 (1997)
PUBMED 9396724
REMARK GeneRIF: The longer p50 isoform is generated through the use of an
upstream, in-frame, non-AUG (CUG) translation initiation codon.
REFERENCE 9 (bases 1 to 3885)
AUTHORS Zeiner,M. and Gehring,U.
TITLE A protein that interacts with members of the nuclear hormone
receptor family: identification and cDNA cloning
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 92 (25), 11465-11469 (1995)
PUBMED 8524784
REFERENCE 10 (bases 1 to 3885)
AUTHORS Takayama,S., Sato,T., Krajewski,S., Kochel,K., Irie,S., Millan,J.A.
and Reed,J.C.
TITLE Cloning and functional analysis of BAG-1: a novel Bcl-2-binding
protein with anti-cell death activity
JOURNAL Cell 80 (2), 279-284 (1995)
PUBMED 7834747
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BG723775.1, BC001936.1,
AL161445.10 and CN478628.1.
This sequence is a reference standard in the RefSeqGene project.
On Feb 17, 2010 this sequence version replaced gi:124494250.
Summary: The oncogene BCL2 is a membrane protein that blocks a step
in a pathway leading to apoptosis or programmed cell death. The
protein encoded by this gene binds to BCL2 and is referred to as
BCL2-associated athanogene. It enhances the anti-apoptotic effects
of BCL2 and represents a link between growth factor receptors and
anti-apoptotic mechanisms. Multiple protein isoforms are encoded by
this mRNA through the use of a non-AUG (CUG) initiation codon, and
three alternative downstream AUG initiation codons. A related
pseudogene has been defined on chromosome X. [provided by RefSeq,
Feb 2010].
Transcript Variant: This transcript (1) encodes multiple isoforms
due to the use of alternative translation initiation codons. The
longest isoform (BAG-1L or p50) is derived from an upstream non-AUG
(CUG) start codon, while three shorter isoforms are derived from
downstream AUG start codons. The longest isoform (BAG-1L) is
represented in this RefSeq.
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 longest human BAG1 isoform,
known as BAG-1L or p50, as described in the literature, including
PMIDs 9396724, 9679980, 9747877 and 17662274. This isoform
initiates translation at a non-AUG (CUG) start codon that is
well-conserved and present in a strong Kozak signal context.
Alternative translation initiation at downstream AUG start codons
produces three additional isoforms with shorter N-termini, known as
BAG-1M or p46, BAG-1S or p36 (also known as p33), and p29. The most
abundant of the shorter isoforms, BAG-1S, is represented by CCDS
55301.1. Evidence in PMIDs 9747877 and 17662274 indicates that
these isoforms have distinct subcellular distributions, which may
contribute to the multifunctionality of the 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 :: Z35491.1, Z35491.1, BC001936.1
[ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025098 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
non-AUG initiation codon :: PMID: 9679980, 9396724
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-39 BG723775.1 8-46
40-1319 BC001936.1 1-1280
1320-3198 AL161445.10 156792-158670 c
3199-3885 CN478628.1 1-687 c
FEATURES Location/Qualifiers
source 1..3885
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="9"
/map="9p12"
gene 1..3885
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/note="BCL2-associated athanogene"
/db_xref="GeneID:573"
/db_xref="HGNC:937"
/db_xref="MIM:601497"
exon 1..538
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/inference="alignment:Splign:1.39.8"
CDS 88..1125
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/note=";
isoform BAG-1L is encoded by transcript variant 1;
non-AUG (CUG) translation initiation codon;
receptor-associated protein, 46-KD; Bcl-2-binding protein;
Bcl-2 associating athanogene-1 protein; glucocortoid
receptor-associated protein RAP46; BAG family molecular
chaperone regulator 1"
/codon_start=1
/product="BAG family molecular chaperone regulator 1
isoform BAG-1L"
/protein_id="NP_004314.5"
/db_xref="GI:288915525"
/db_xref="CCDS:CCDS35004.1"
/db_xref="GeneID:573"
/db_xref="HGNC:937"
/db_xref="MIM:601497"
/translation="
MAQRGGARRPRGDRERLGSRLRALRPGREPRQSEPPAQRGPPPSRRPPARSTASGHDRPTRGAAAGARRPRMKKKTRRRSTRSEELTRSEELTLSEEATWSEEATQSEEATQGEEMNRSQEVTRDEESTRSEEVTREEMAAAGLTVTVTHSNEKHDLHVTSQQGSSEPVVQDLAQVVEEVIGVPQSFQKLIFKGKSLKEMETPLSALGIQDGCRVMLIGKKNSPQEEVELKKLKHLEKSVEKIADQLEELNKELTGIQQGFLPKDLQAEALCKLDRRVKATIEQFMKILEEIDTLILPENFKDSRLKRKGLVKKVQAFLAECDTVEQNICQETERLQSTNFALAE
"
misc_feature 301..303
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/note="Region: Alternative AUG translation initiation
codon; isoform BAG-1M or p46"
misc_feature 433..435
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/note="Region: Alternative AUG translation initiation
codon; isoform BAG-1S or p33 or p36"
misc_feature 502..504
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/note="Region: Alternative AUG translation initiation
codon; isoform p29"
misc_feature 517..747
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/note="Ubiquitin-like domain of BAG1; Region: BAG1_N;
cd01812"
/db_xref="CDD:176407"
misc_feature 553..747
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/note="Ubiquitin homologues; Region: UBQ; smart00213"
/db_xref="CDD:197576"
misc_feature order(607..609,643..645,652..654,682..687,745..747)
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/note="charged pocket; other site"
/db_xref="CDD:176407"
misc_feature order(658..672,739..744)
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/note="hydrophobic patch; other site"
/db_xref="CDD:176407"
misc_feature 823..1065
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/note="BAG domains, present in regulator of Hsp70
proteins; Region: BAG; smart00264"
/db_xref="CDD:197613"
variation 220
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/replace="c"
/replace="g"
/db_xref="dbSNP:1071545"
variation 237
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/replace="c"
/replace="g"
/db_xref="dbSNP:11551680"
variation 282
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/replace="c"
/replace="t"
/db_xref="dbSNP:11551681"
exon 539..667
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/inference="alignment:Splign:1.39.8"
exon 668..750
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/inference="alignment:Splign:1.39.8"
exon 751..864
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/inference="alignment:Splign:1.39.8"
exon 865..972
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/inference="alignment:Splign:1.39.8"
exon 973..1035
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/inference="alignment:Splign:1.39.8"
STS 1009..1135
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/standard_name="RH47281"
/db_xref="UniSTS:85239"
exon 1036..3873
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/inference="alignment:Splign:1.39.8"
STS 1114..1251
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/standard_name="STS-S83171"
/db_xref="UniSTS:38835"
variation 1153
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/replace="a"
/replace="c"
/db_xref="dbSNP:1802039"
STS 1183..1316
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/standard_name="STS-Z35491"
/db_xref="UniSTS:68478"
variation 1207
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/replace="c"
/replace="t"
/db_xref="dbSNP:1047593"
variation 1256
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/replace="a"
/replace="c"
/db_xref="dbSNP:1047614"
variation 1258
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/replace="a"
/replace="c"
/db_xref="dbSNP:1047617"
variation 1283
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/replace="c"
/replace="t"
/db_xref="dbSNP:1047637"
polyA_site 1319
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
STS 2591..2714
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/standard_name="RH69938"
/db_xref="UniSTS:14412"
STS 2982..3101
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/standard_name="D9S1064E"
/db_xref="UniSTS:151281"
STS 3586..3707
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/standard_name="RH18169"
/db_xref="UniSTS:49964"
STS 3623..3865
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/standard_name="A002S09"
/db_xref="UniSTS:29234"
variation 3785..3786
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
/replace=""
/replace="atat"
/replace="tata"
/db_xref="dbSNP:74178865"
polyA_signal 3853..3858
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
polyA_site 3873
/gene="BAG1"
/gene_synonym="BAG-1; HAP; RAP46"
ORIGIN
aggccggggcggggctgggaagtagtcgggcggggttgtgagacgccgcgctcagcttccatcgctgggcggtcaacaagtgcgggcctggctcagcgcgggggggcgcggagaccgcgaggcgaccgggagcggctgggttcccggctgcgcgcccttcggccaggccgggagccgcgccagtcggagcccccggcccagcgtggtccgcctccctctcggcgtccacctgcccggagtactgccagcgggcatgaccgacccaccaggggcgccgccgccggcgctcgcaggccgcggatgaagaagaaaacccggcgccgctcgacccggagcgaggagttgacccggagcgaggagttgaccctgagtgaggaagcgacctggagtgaagaggcgacccagagtgaggaggcgacccagggcgaagagatgaatcggagccaggaggtgacccgggacgaggagtcgacccggagcgaggaggtgaccagggaggaaatggcggcagctgggctcaccgtgactgtcacccacagcaatgagaagcacgaccttcatgttacctcccagcagggcagcagtgaaccagttgtccaagacctggcccaggttgttgaagaggtcataggggttccacagtcttttcagaaactcatatttaagggaaaatctctgaaggaaatggaaacaccgttgtcagcacttggaatacaagatggttgccgggtcatgttaattgggaaaaagaacagtccacaggaagaggttgaactaaagaagttgaaacatttggagaagtctgtggagaagatagctgaccagctggaagagttgaataaagagcttactggaatccagcagggttttctgcccaaggatttgcaagctgaagctctctgcaaacttgataggagagtaaaagccacaatagagcagtttatgaagatcttggaggagattgacacactgatcctgccagaaaatttcaaagacagtagattgaaaaggaaaggcttggtaaaaaaggttcaggcattcctagccgagtgtgacacagtggagcagaacatctgccaggagactgagcggctgcagtctacaaactttgccctggccgagtgaggtgtagcagaaaaaggctgtgctgccctgaagaatggcgccaccagctctgccgtctctggagcggaatttacctgatttcttcagggctgctgggggcaactggccatttgccaattttcctactctcacactggttctcaatgaaaaatagtgtctttgtgattttgagtaaagctcctatctgttttctccttctgtctctgtggttgtactgtccagcaatccaccttttctggagagggccacctctgcccaaattttcccagctgtttggacctctgggtgctttctttgggctggtgagagctctaatttgccttgggccagtttcaggtttataggccccctcagtcttcagatacatgagggcttctttgctcttgtgatcgtgtagtcccatagctgtaaaaccagaatcaccaggaggttgcacctagtcaggaatattgggaatggcctagaacaaggtgtttggcacataagtagaccacttatccctcattgtgacctaattccagagcatctggctgggttgttgggttctagactttgtcctcacctcccagtgaccctgactagccacaggccatgagataccagggggccgttccttggatggagcctgtggttgatgcaaggcttccttgtccccaagcaagtcttcagaaggttagaacccagtgttgactgagtctgtgcttgaaaccaggccagagccatggattaggaagggcaaagagaaggcaccagaatgagtaaagcaggcaggtggtgaagccaaccataaacttctcaggagtgacatgtgcttccttcaaaggcatttttgttaaccatatccttctgagttctatgtttccttcacagctgttctatccattttgtggactgtcccccacccccaccccatcattgtttttaaaaaattaaggcctggcgcagcagctcatgcctataatcccagcactttgggaggctgaggcgggcggatcacttgaggccaggagtttgagaccagcccaggcaacatagcaaaaccccattctgctttaaaaaaaaaaaaaaaaaaaattagcttggcgtagtggcatgtgcctataatcccagctactggggaggctgaggcacaagaatcatttgaacctgggaggtagaggttgctgtgagccgagattacgcccctgcactccagcctgggtcacagagtgagactccatctcagaaaaaaaaaaaattgagtcaggtgcagtagctccttcctgtagtcccagctacttgggaggctgaggctagaggatcacttgagcccaggagtttgagtctagtctgggcaacatagcaagaccccatctctaaaatttaagtaagtaaaagtagataaataaaaagaaaaaaaaactgtttatgtgctcatcataaagtagaagagtggtttgcttttttttttttttttggattaatgaggaaatcattctgtggctctagtcataatttatgcttaataacattgatagtagccctttgcgctataactctacctaaagactcacatcatttggcagagagagagtcgttgaagtcccaggaattcaggactgggcaggttaagacctcagacaaggtagtagaggtagacttgtggacaaggctcgggtcccagcccaccgcaccccaactttaatcagagtggttcactattgatctatttttgtgtgatagctgtgtggcgtgggccacaacatttaatgagaagttactgtgcaccaaactgccgaacaccattctaaactattcatatatattagtcatttaattcttacataacttgagaggtagacagatatccttattttagagatgaggaaaccaagagaacttaggtcattagcgcaaggttgtagagtaagcggcaaagccaagacacaaagctgggtggtttggtttcagagccagtgcttttcccctctactgtactgcctctcaaccaacacagggttgcacaggcccattctctgatttttttcctcttgtcctctgcctctccctctagctcccacttcctctctgctctagttcattttctttagagcagcccgagtgatcatgaagtgcaaatcttgccatgtcagtcccctgcttagaaccctccaatggctcactttctctttaggcaaaagtctttaccccatgccttctcccatctcatctcaaccccctcatttgttggctgtctgctgtcagccactcttctttcaggtcctcagatgcactgcaccctctcctgcctgggggtctttgctcctgctactacctctgcttgaacagctcctcaccttccttcctccaaccctacccttgtataggtgacttttgttcatccttcagaattcaactcacatgtctcttgcatggagaaccctcacctactgtgttgagaccctgtccagcccccaggtgggatcctctctcgacttcccatacatttctttcacagcatttacatagtccatgatagtttacttgtgggattatttggttaatctttgcctttaacaccagggttccttgggtgaaggagcttctttatcttggtaacagcattatttcaagcataacttgtaatatagttatattacatatataacatatatatatataacataacatatataacatatataacaagcataacttgttatatagtcttgtatatagtaagacctcaataaatatttggagaacaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:573 -> Molecular function: GO:0005057 [receptor signaling protein activity] evidence: TAS
GeneID:573 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:573 -> Molecular function: GO:0051087 [chaperone binding] evidence: IEA
GeneID:573 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:573 -> Biological process: GO:0007166 [cell surface receptor signaling pathway] evidence: TAS
GeneID:573 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS
GeneID:573 -> Biological process: GO:0070389 [chaperone cofactor-dependent protein refolding] evidence: IDA
GeneID:573 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:573 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
by
@meso_cacase at
DBCLS
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