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

Gene ID: 79870, updated on 27-Nov-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
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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
  • 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)

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

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