LOCUS NP_001351803 180 aa linear PRI 01-AUG-2024
DEFINITION brain and acute leukemia cytoplasmic protein isoform 3 [Homo
sapiens].
ACCESSION NP_001351803
VERSION NP_001351803.1
DBSOURCE REFSEQ: accession NM_001364874.1
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 (residues 1 to 180)
AUTHORS Verma,D., Kumar,R., Ali,M.S., Singh,J., Arora,M., Singh,I.,
Kumari,S., Bakhshi,S., Sharma,A., Palanichamy,J.K., Tanwar,P.,
Singh,A.R. and Chopra,A.
TITLE BAALC gene expression tells a serious patient outcome tale in
NPM1-wild type/FLT3-ITD negative cytogenetically normal-acute
myeloid leukemia in adults
JOURNAL Blood Cells Mol Dis 95, 102662 (2022)
PUBMED 35429905
REMARK GeneRIF: BAALC gene expression tells a serious patient outcome tale
in NPM1-wild type/FLT3-ITD negative cytogenetically normal-acute
myeloid leukemia in adults.
REFERENCE 2 (residues 1 to 180)
AUTHORS Marjanovic,I., Karan-Djurasevic,T., Kostic,T., Virijevic,M.,
Vukovic,N.S., Pavlovic,S. and Tosic,N.
TITLE Prognostic significance of combined BAALC and MN1 gene expression
level in acute myeloid leukemia with normal karyotype
JOURNAL Int J Lab Hematol 43 (3), 433-440 (2021)
PUBMED 33242229
REMARK GeneRIF: Prognostic significance of combined BAALC and MN1 gene
expression level in acute myeloid leukemia with normal karyotype.
REFERENCE 3 (residues 1 to 180)
AUTHORS Dannenmann,B., Klimiankou,M., Oswald,B., Solovyeva,A., Mardan,J.,
Nasri,M., Ritter,M., Zahabi,A., Arreba-Tutusaus,P., Mir,P.,
Stein,F., Kandabarau,S., Lachmann,N., Moritz,T., Morishima,T.,
Konantz,M., Lengerke,C., Ripperger,T., Steinemann,D., Erlacher,M.,
Niemeyer,C.M., Zeidler,C., Welte,K. and Skokowa,J.
TITLE iPSC modeling of stage-specific leukemogenesis reveals BAALC as a
key oncogene in severe congenital neutropenia
JOURNAL Cell Stem Cell 28 (5), 906-922 (2021)
PUBMED 33894142
REMARK GeneRIF: iPSC modeling of stage-specific leukemogenesis reveals
BAALC as a key oncogene in severe congenital neutropenia.
Erratum:[Cell Stem Cell. 2023 Sep 7;30(9):1282. doi:
10.1016/j.stem.2023.07.015. PMID: 37683606]
REFERENCE 4 (residues 1 to 180)
AUTHORS Maki,H., Yoshimi,A., Shimada,T., Arai,S., Morita,K., Kamikubo,Y.,
Ikegawa,M. and Kurokawa,M.
TITLE Physical interaction between BAALC and DBN1 induces chemoresistance
in leukemia
JOURNAL Exp Hematol 94, 31-36 (2021)
PUBMED 33453340
REMARK GeneRIF: Physical interaction between BAALC and DBN1 induces
chemoresistance in leukemia.
REFERENCE 5 (residues 1 to 180)
AUTHORS Jentzsch,M., Bill,M., Grimm,J., Brauer,D., Backhaus,D.,
Goldmann,K., Schulz,J., Niederwieser,D., Platzbecker,U. and
Schwind,S.
TITLE Allogeneic stem cell transplantation mitigates the adverse
prognostic impact of high diagnostic BAALC and MN1 expression in
AML
JOURNAL Ann Hematol 99 (10), 2417-2427 (2020)
PUBMED 32862286
REMARK GeneRIF: Allogeneic stem cell transplantation mitigates the adverse
prognostic impact of high diagnostic BAALC and MN1 expression in
AML.
REFERENCE 6 (residues 1 to 180)
AUTHORS Langer,C., Radmacher,M.D., Ruppert,A.S., Whitman,S.P., Paschka,P.,
Mrozek,K., Baldus,C.D., Vukosavljevic,T., Liu,C.G., Ross,M.E.,
Powell,B.L., de la Chapelle,A., Kolitz,J.E., Larson,R.A.,
Marcucci,G. and Bloomfield,C.D.
CONSRTM Cancer and Leukemia Group B (CALGB)
TITLE High BAALC expression associates with other molecular prognostic
markers, poor outcome, and a distinct gene-expression signature in
cytogenetically normal patients younger than 60 years with acute
myeloid leukemia: a Cancer and Leukemia Group B (CALGB) study
JOURNAL Blood 111 (11), 5371-5379 (2008)
PUBMED 18378853
REMARK GeneRIF: high BAALC expression is an independent adverse prognostic
factor and is associated with a specific gene-expression profile
REFERENCE 7 (residues 1 to 180)
AUTHORS Baldus,C.D., Martus,P., Burmeister,T., Schwartz,S., Gokbuget,N.,
Bloomfield,C.D., Hoelzer,D., Thiel,E. and Hofmann,W.K.
TITLE Low ERG and BAALC expression identifies a new subgroup of adult
acute T-lymphoblastic leukemia with a highly favorable outcome
JOURNAL J Clin Oncol 25 (24), 3739-3745 (2007)
PUBMED 17646667
REMARK GeneRIF: Low expression of both ERG and BAALC identifies T-ALL
patients with a distinctly favorable long-term outcome.
REFERENCE 8 (residues 1 to 180)
AUTHORS Satoskar,A.A., Tanner,S.M., Weinstein,M., Qualman,S.J. and de la
Chapelle,A.
TITLE Baalc, a marker of mesoderm and muscle
JOURNAL Gene Expr Patterns 5 (4), 463-473 (2005)
PUBMED 15749074
REMARK GeneRIF: High transcript levels occur in leukemic blasts from some
patients with acute myeloid leukemia.
REFERENCE 9 (residues 1 to 180)
AUTHORS Marcucci,G., Mrozek,K. and Bloomfield,C.D.
TITLE Molecular heterogeneity and prognostic biomarkers in adults with
acute myeloid leukemia and normal cytogenetics
JOURNAL Curr Opin Hematol 12 (1), 68-75 (2005)
PUBMED 15604894
REMARK GeneRIF: The BAALC gene, located on chromosome 8q22.3, encodes a
protein with no homology to any known proteins or functional
domains.
Review article
REFERENCE 10 (residues 1 to 180)
AUTHORS Tanner,S.M., Austin,J.L., Leone,G., Rush,L.J., Plass,C.,
Heinonen,K., Mrozek,K., Sill,H., Knuutila,S., Kolitz,J.E.,
Archer,K.J., Caligiuri,M.A., Bloomfield,C.D. and de La Chapelle,A.
TITLE BAALC, the human member of a novel mammalian neuroectoderm gene
lineage, is implicated in hematopoiesis and acute leukemia
JOURNAL Proc Natl Acad Sci U S A 98 (24), 13901-13906 (2001)
PUBMED 11707601
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AK022077.1, BI602606.1 and
BC035038.2.
Summary: This gene was identified by gene expression studies in
patients with acute myeloid leukemia (AML). The gene is conserved
among mammals and is not found in lower organisms. Tissues that
express this gene develop from the neuroectoderm. Multiple
alternatively spliced transcript variants that encode different
proteins have been described for this gene; however, some of the
transcript variants are found only in AML cell lines. [provided by
RefSeq, Jul 2008].
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 :: SRR1803614.229774.1,
SRR1660807.55001.1 [ECO:0000332]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..180
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="8"
/map="8q22.3"
Protein 1..180
/product="brain and acute leukemia cytoplasmic protein
isoform 3"
/note="brain and acute leukemia cytoplasmic protein; brain
and acute leukemia, cytoplasmic; BAALC, MEKK1 and KLF4
binding; BAALC, MAP3K1 and KLF4 binding"
/calculated_mol_wt=19093
Region 1..50
/region_name="BAALC_N"
/note="BAALC N-terminus; pfam06989"
/db_xref="CDD:369161"
CDS 1..180
/gene="BAALC"
/coded_by="NM_001364874.1:174..716"
/note="isoform 3 is encoded by transcript variant 3"
/db_xref="CCDS:CCDS94326.1"
/db_xref="GeneID:79870"
/db_xref="HGNC:HGNC:14333"
/db_xref="MIM:606602"
ORIGIN
1 mgcggsrada iepryyeswt retestwlty tdsdappsaa apdsgpeagg lhsvleaeks
61 kikaptdsvs deglfsaskm aplavfshgm ledglpsngv prstapggip npekktncet
121 qcpnpqslss gpltqkqngl qtteakrdak rmpakevtin vtdsiqqmdr srritkncvn
//