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

    Gene ID: 79870, updated on 17-Jun-2024

    Summary

    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
    NEW
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    Genomic context

    See BAALC in Genome Data Viewer
    Location:
    8q22.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (103140725..103230305)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (104268674..104358246)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ12015

    Gene Ontology Provided by GOA

    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

    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)

    NEW Try the new Transcript table

    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_001024372.2NP_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:150
      BAALC_N; BAALC N-terminus
    2. NM_001364874.1NP_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:149
      BAALC_N; BAALC N-terminus
    3. NM_024812.3NP_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:150
      BAALC_N; BAALC N-terminus
      NF038078
      Location:3777
      NRPS_MxcG; myxochelin non-ribosomal peptide synthetase MxcG

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)