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brain and acute leukemia cytoplasmic protein isoform 3 [Homo sapiens]

NCBI Reference Sequence: NP_001351803.1

Identical Proteins FASTA Graphics 

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
//
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"
Feature NP_001351803 : 1 segment
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