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    BAALC BAALC binder of MAP3K1 and KLF4 [ Homo sapiens (human) ]

    Gene ID: 79870, updated on 28-Oct-2024

    Summary

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    Official Symbol
    BAALCprovided by HGNC
    Official Full Name
    BAALC binder of MAP3K1 and KLF4provided by HGNC
    Primary source
    HGNC:HGNC:14333
    See related
    Ensembl:ENSG00000164929 MIM:606602; AllianceGenome:HGNC:14333
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    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]
    Expression
    Biased expression in brain (RPKM 101.5), adrenal (RPKM 7.1) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See BAALC in Genome Data Viewer
    Location:
    8q22.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (103140725..103230305)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (104268674..104358246)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (104152953..104242533)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:104117877-104118378 Neighboring gene MT-CO2 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:104134297-104134798 Neighboring gene long intergenic non-protein coding RNA 1181 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19454 Neighboring gene BAALC antisense RNA 2 Neighboring gene BAALC antisense RNA 1 Neighboring gene microRNA 3151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:104221063-104221868 Neighboring gene uncharacterized LOC105369147 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:104292515-104293714 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:104310702-104311202 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:104311203-104311703 Neighboring gene small nucleolar RNA, C/D box 173 Neighboring gene frizzled class receptor 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Evaluation of rs62527607 [GT] single nucleotide polymorphism located in BAALC gene in children with acute leukemia using mismatch PCR-RFLP. Nadimi M, et al. Cancer Genet, 2016 Jul-Aug. PMID 27372260
    2. In acute promyelocytic leukemia (APL) low BAALC gene expression identifies a patient group with favorable overall survival and improved relapse free survival. Nolte F, et al. Leuk Res, 2013 Apr. PMID 23287429
    3. BAALC overexpression retains its negative prognostic role across all cytogenetic risk groups in acute myeloid leukemia patients. Damiani D, et al. Am J Hematol, 2013 Oct. PMID 23760853
    4. Prognostic implication of BAALC gene expression in adult acute myeloid leukemia. Yahya RS, et al. Clin Lab, 2013. PMID 23865362
    5. BAALC gene expression tells a serious patient outcome tale in NPM1-wild type/FLT3-ITD negative cytogenetically normal-acute myeloid leukemia in adults. Verma D, et al. Blood Cells Mol Dis, 2022 Jul. PMID 35429905

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BAALC gene expression tells a serious patient outcome tale in NPM1-wild type/FLT3-ITD negative cytogenetically normal-acute myeloid leukemia in adults.
      Title: BAALC gene expression tells a serious patient outcome tale in NPM1-wild type/FLT3-ITD negative cytogenetically normal-acute myeloid leukemia in adults.
    2. Prognostic significance of combined BAALC and MN1 gene expression level in acute myeloid leukemia with normal karyotype.
      Title: Prognostic significance of combined BAALC and MN1 gene expression level in acute myeloid leukemia with normal karyotype.
    3. iPSC modeling of stage-specific leukemogenesis reveals BAALC as a key oncogene in severe congenital neutropenia.
      Title: iPSC modeling of stage-specific leukemogenesis reveals BAALC as a key oncogene in severe congenital neutropenia.
    4. Physical interaction between BAALC and DBN1 induces chemoresistance in leukemia.
      Title: Physical interaction between BAALC and DBN1 induces chemoresistance in leukemia.
    5. Long non-coding RNA LRRC75A-AS1 facilitates triple negative breast cancer cell proliferation and invasion via functioning as a ceRNA to modulate BAALC.
      Title: Long non-coding RNA LRRC75A-AS1 facilitates triple negative breast cancer cell proliferation and invasion via functioning as a ceRNA to modulate BAALC.
    6. Allogeneic stem cell transplantation mitigates the adverse prognostic impact of high diagnostic BAALC and MN1 expression in AML.
      Title: Allogeneic stem cell transplantation mitigates the adverse prognostic impact of high diagnostic BAALC and MN1 expression in AML.
    7. Downregulation of miR-326 and overexpression of BALLC in drug-resistant acute lymphoblastic leukemia cell line and patients compared with the parental cell line and drug-sensitive patients was found. The expression profiles of miR-326 and BAALC were inversely correlated. Bioinformatics data showed a possible regulatory role for miR-326 on BAALC mRNA.
      Title: Simultaneous changes in expression levels of BAALC and miR-326: a novel prognostic biomarker for childhood ALL.
    8. despite of their well-known adverse role in prognosis of AML, neither BAALC nor ERG expression levels at diagnosis had effect on survival of AML patients who underwent allo-HSCT.
      Title: BAALC and ERG expression levels at diagnosis have no prognosis impact on acute myeloid leukemia patients undergoing allogeneic hematopoietic stem cell transplantation.
    9. BAALC expression-based minimal residual disease detection during therapy may be considered a strategy to identify patients at high risk of relapse.
      Title: Feasibility of BAALC gene expression for detection of minimal residual disease and risk stratification in normal karyotype acute myeloid leukaemia.
    10. Study provide evidence for an association of rs62527607 [GT] SNP of BAALC gene with multidrug resistance in childhood ALL.
      Title: Evaluation of rs62527607 [GT] single nucleotide polymorphism located in BAALC gene in children with acute leukemia using mismatch PCR-RFLP.
    Submit: New GeneRIF Correction See all GeneRIFs (41)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12015

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane raft IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuron projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in sarcoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    brain and acute leukemia cytoplasmic protein
    Names
    BAALC, MAP3K1 and KLF4 binding
    BAALC, MEKK1 and KLF4 binding
    brain and acute leukemia, cytoplasmic

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001024372.2 → NP_001019543.1  brain and acute leukemia cytoplasmic protein isoform 2

      See identical proteins and their annotated locations for NP_001019543.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus when compared to isoform 1.
      Source sequence(s)
      BC035038, BI548687
      Consensus CDS
      CCDS47906.1
      UniProtKB/Swiss-Prot
      Q8WXS3
      Related
      ENSP00000395024.2, ENST00000438105.2
      Conserved Domains (1) summary
      pfam06989
      Location:1 → 50
      BAALC_N; BAALC N-terminus

    2. NM_001364874.1 → NP_001351803.1  brain and acute leukemia cytoplasmic protein isoform 3

      Status: REVIEWED

      Source sequence(s)
      AK022077, BC035038, BI602606
      Consensus CDS
      CCDS94326.1
      Related
      ENSP00000297574.6, ENST00000297574.6
      Conserved Domains (1) summary
      pfam06989
      Location:1 → 49
      BAALC_N; BAALC N-terminus

    3. NM_024812.3 → NP_079088.1  brain and acute leukemia cytoplasmic protein isoform 1

      See identical proteins and their annotated locations for NP_079088.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
      Source sequence(s)
      AK022077, BC035038, BI548687
      Consensus CDS
      CCDS6297.1
      UniProtKB/Swiss-Prot
      Q8WTP6, Q8WXS0, Q8WXS1, Q8WXS2, Q8WXS3, Q9HA93
      Related
      ENSP00000312457.5, ENST00000309982.10
      Conserved Domains (2) summary
      pfam06989
      Location:1 → 50
      BAALC_N; BAALC N-terminus
      NF038078
      Location:37 → 77
      NRPS_MxcG; myxochelin non-ribosomal peptide synthetase MxcG

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      103140725..103230305
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      104268674..104358246
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WXS3.4 GenPept UniProtKB/Swiss-Prot:Q8WXS3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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