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2024-04-27 03:43:49, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_004765 877 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens B-cell CLL/lymphoma 7C (BCL7C), mRNA.
ACCESSION NM_004765 XM_940124 XM_944459 XM_944463
VERSION NM_004765.2 GI:20336476
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 877)
AUTHORS Hosgood,H.D. III, Zhang,L., Shen,M., Berndt,S.I., Vermeulen,R.,
Li,G., Yin,S., Yeager,M., Yuenger,J., Rothman,N., Chanock,S.,
Smith,M. and Lan,Q.
TITLE Association between genetic variants in VEGF, ERCC3 and
occupational benzene haematotoxicity
JOURNAL Occup Environ Med 66 (12), 848-853 (2009)
PUBMED 19773279
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 2 (bases 1 to 877)
AUTHORS Liang,X.S., Caporaso,N., McMaster,M.L., Ng,D., Landgren,O.,
Yeager,M., Chanock,S. and Goldin,L.R.
TITLE Common genetic variants in candidate genes and risk of familial
lymphoid malignancies
JOURNAL Br. J. Haematol. 146 (4), 418-423 (2009)
PUBMED 19573080
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 3 (bases 1 to 877)
AUTHORS Morton,L.M., Purdue,M.P., Zheng,T., Wang,S.S., Armstrong,B.,
Zhang,Y., Menashe,I., Chatterjee,N., Davis,S., Lan,Q., Vajdic,C.M.,
Severson,R.K., Holford,T.R., Kricker,A., Cerhan,J.R., Leaderer,B.,
Grulich,A., Yeager,M., Cozen,W., Hoar Zahm,S., Chanock,S.J.,
Rothman,N. and Hartge,P.
TITLE Risk of non-Hodgkin lymphoma associated with germline variation in
genes that regulate the cell cycle, apoptosis, and lymphocyte
development
JOURNAL Cancer Epidemiol. Biomarkers Prev. 18 (4), 1259-1270 (2009)
PUBMED 19336552
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 4 (bases 1 to 877)
AUTHORS Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z.,
Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S.,
McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J.,
Dunham,I., Hill,D.E. and Vidal,M.
TITLE hORFeome v3.1: a resource of human open reading frames representing
over 10,000 human genes
JOURNAL Genomics 89 (3), 307-315 (2007)
PUBMED 17207965
REFERENCE 5 (bases 1 to 877)
AUTHORS Ballif,B.A., Villen,J., Beausoleil,S.A., Schwartz,D. and Gygi,S.P.
TITLE Phosphoproteomic analysis of the developing mouse brain
JOURNAL Mol. Cell Proteomics 3 (11), 1093-1101 (2004)
PUBMED 15345747
REFERENCE 6 (bases 1 to 877)
AUTHORS Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E.,
Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P.
TITLE Large-scale characterization of HeLa cell nuclear phosphoproteins
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 101 (33), 12130-12135 (2004)
PUBMED 15302935
REFERENCE 7 (bases 1 to 877)
AUTHORS Jadayel,D.M., Osborne,L.R., Coignet,L.J., Zani,V.J., Tsui,L.C.,
Scherer,S.W. and Dyer,M.J.
TITLE The BCL7 gene family: deletion of BCL7B in Williams syndrome
JOURNAL Gene 224 (1-2), 35-44 (1998)
PUBMED 9931421
REFERENCE 8 (bases 1 to 877)
AUTHORS Zani,V.J., Asou,N., Jadayel,D., Heward,J.M., Shipley,J.,
Nacheva,E., Takasuki,K., Catovsky,D. and Dyer,M.J.
TITLE Molecular cloning of complex chromosomal translocation
t(8;14;12)(q24.1;q32.3;q24.1) in a Burkitt lymphoma cell line
defines a new gene (BCL7A) with homology to caldesmon
JOURNAL Blood 87 (8), 3124-3134 (1996)
PUBMED 8605326
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BC019071.1.
On or before Mar 4, 2006 this sequence version replaced
gi:89040786, gi:89040788, gi:89040790, gi:4757843.
Summary: This gene is identified by the similarity of its product
to the N-terminal region of BCL7A protein. The BCL7A protein is
encoded by the gene known to be directly involved in a three-way
gene translocation in a Burkitt lymphoma cell line. The function of
this gene has not yet been determined. [provided by RefSeq, Jul
2008].
##Evidence-Data-START##
Transcript exon combination :: BC019071.1, BM800675.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
FEATURES Location/Qualifiers
source 1..877
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="16"
/map="16p11"
gene 1..877
/gene="BCL7C"
/note="B-cell CLL/lymphoma 7C"
/db_xref="GeneID:9274"
/db_xref="HGNC:1006"
/db_xref="HPRD:05787"
/db_xref="MIM:605847"
exon 1..226
/gene="BCL7C"
/inference="alignment:Splign:1.39.8"
CDS 135..788
/gene="BCL7C"
/codon_start=1
/product="B-cell CLL/lymphoma 7 protein family member C"
/protein_id="NP_004756.2"
/db_xref="GI:20336477"
/db_xref="CCDS:CCDS10693.1"
/db_xref="GeneID:9274"
/db_xref="HGNC:1006"
/db_xref="HPRD:05787"
/db_xref="MIM:605847"
/translation="
MAGRTVRAETRSRAKDDIKKVMATIEKVRRWEKRWVTVGDTSLRIFKWVPVVDPQEEERRRAGGGAERSRGRERRGRGASPRGGGPLILLDLNDENSNQSFHSEGSLQKGTEPSPGGTPQPSRPVSPAGPPEGVPEEAQPPRLGQERDPGGITAGSTDEPPMLTKEEPVPELLEAEAPEAYPVFEPVPPVPEAAQGDTEDSEGAPPLKRICPNAPDP
"
misc_feature 138..287
/gene="BCL7C"
/note="BCL7, N-terminal conserver region; Region: BCL_N;
pfam04714"
/db_xref="CDD:113482"
misc_feature 423..425
/gene="BCL7C"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q8WUZ0.3); phosphorylation site"
misc_feature 423..425
/gene="BCL7C"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 432..434
/gene="BCL7C"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q8WUZ0.3); phosphorylation site"
misc_feature 432..434
/gene="BCL7C"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 441..443
/gene="BCL7C"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 450..452
/gene="BCL7C"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 465..467
/gene="BCL7C"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphothreonine; propagated from
UniProtKB/Swiss-Prot (Q8WUZ0.3); phosphorylation site"
misc_feature 465..467
/gene="BCL7C"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 474..476
/gene="BCL7C"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q8WUZ0.3); phosphorylation site"
misc_feature 474..476
/gene="BCL7C"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/citation=[5]
misc_feature 486..488
/gene="BCL7C"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphothreonine; propagated from
UniProtKB/Swiss-Prot (Q8WUZ0.3); phosphorylation site"
misc_feature 486..488
/gene="BCL7C"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/citation=[6]
misc_feature 498..500
/gene="BCL7C"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q8WUZ0.3); phosphorylation site"
misc_feature 510..512
/gene="BCL7C"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q8WUZ0.3); phosphorylation site"
misc_feature 510..512
/gene="BCL7C"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/citation=[5]
/citation=[6]
misc_feature 600..602
/gene="BCL7C"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/citation=[6]
exon 227..305
/gene="BCL7C"
/inference="alignment:Splign:1.39.8"
variation 235
/gene="BCL7C"
/replace="a"
/replace="g"
/db_xref="dbSNP:11558080"
exon 306..414
/gene="BCL7C"
/inference="alignment:Splign:1.39.8"
variation 368..369
/gene="BCL7C"
/replace=""
/replace="a"
/db_xref="dbSNP:35860871"
exon 415..576
/gene="BCL7C"
/inference="alignment:Splign:1.39.8"
variation 521
/gene="BCL7C"
/replace="a"
/replace="g"
/db_xref="dbSNP:34063722"
exon 577..662
/gene="BCL7C"
/inference="alignment:Splign:1.39.8"
variation 608
/gene="BCL7C"
/replace="c"
/replace="t"
/db_xref="dbSNP:3751871"
exon 663..858
/gene="BCL7C"
/inference="alignment:Splign:1.39.8"
polyA_signal 840..845
/gene="BCL7C"
polyA_site 858
/gene="BCL7C"
/experiment="experimental evidence, no additional details
recorded"
ORIGIN
cgagagagggcgcggccaactccaggggggacggcaggccgagagcgcggcgcccgggcctggcgcggagcctgagcccgccggacgggaggcggccccgccgcgggctcggccccggccccagccccgccagcatggccggccggactgtacgggccgagacccggagccgggccaaggatgacatcaagaaggtgatggcgaccatcgagaaggtccggagatgggagaagcgatgggtgactgtgggcgacacttcccttcgtatcttcaagtgggtgccagtggtggatccccaggaggaggagcgaaggcgggcaggtggcggggcagagagatcccgtggccgggaacgtcggggcaggggcgccagtccccgagggggtggccctctcatcctgctggatcttaatgatgagaacagcaaccagagtttccattcggaaggttccctgcaaaagggcacagagcccagtcctgggggcaccccccagcccagccgccctgtgtcacctgccggacccccagaaggggtccctgaggaggctcagcccccacggctgggccaagagagagatcccgggggcataactgctggcagcaccgacgaacccccaatgctgaccaaggaggagcctgttccagaactgctggaagctgaggcccccgaagcttaccctgtctttgagccagtgccacctgtccctgaggcagcccagggtgacacagaggactcggagggtgcccccccactcaagcgcatctgcccaaatgcccctgacccctgagaagccggcctgcctgtcctgttgccccaggggcccctttggctttttacaaataaagacccttttgtaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:9274 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
by
@meso_cacase at
DBCLS
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