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

Gene ID: 79870, updated on 17-Jun-2019

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
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

Genomic context

See BAALC in Genome Data Viewer
Location:
8q22.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (103140725..103230305)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (104152921..104242533)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene MT-CO2 pseudogene 4 Neighboring gene long intergenic non-protein coding RNA 1181 Neighboring gene BAALC antisense RNA 2 Neighboring gene BAALC antisense RNA 1 Neighboring gene microRNA 3151 Neighboring gene uncharacterized LOC105369147 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 FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12015

Gene Ontology Provided by GOA

Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
postsynaptic membrane 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)

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:149
    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
    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
    Q8WXS3
    Related
    ENSP00000312457.5, ENST00000309982.10
    Conserved Domains (1) summary
    pfam06989
    Location:149
    BAALC_N; BAALC N-terminus

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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

RNA

  1. XR_001745601.2 RNA Sequence

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