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    BACH1 BTB domain and CNC homolog 1 [ Homo sapiens (human) ]

    Gene ID: 571, updated on 9-Jun-2024

    Summary

    Official Symbol
    BACH1provided by HGNC
    Official Full Name
    BTB domain and CNC homolog 1provided by HGNC
    Primary source
    HGNC:HGNC:935
    See related
    Ensembl:ENSG00000156273 MIM:602751; AllianceGenome:HGNC:935
    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
    Also known as
    BACH-1; BTBD24
    Summary
    This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009]
    Annotation information
    Note: BACH1 (Gene ID: 571) and BRIP1 (Gene ID: 83990) share the BACH1 symbol/alias in common. BACH1 is a widely used alternative name for BRCA1 interacting protein C-terminal helicase 1 (BRIP1), which can be confused with the official symbol for BTB domain and CNC homolog 1 (BACH1). [10 Jul 2018]
    Expression
    Ubiquitous expression in bone marrow (RPKM 19.7), placenta (RPKM 15.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See BACH1 in Genome Data Viewer
    Location:
    21q21.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (29298922..29361894)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (27664831..27727787)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (30671243..30734215)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 189 Neighboring gene uncharacterized LOC124905007 Neighboring gene uncharacterized LOC105369299 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18348 Neighboring gene Sharpr-MPRA regulatory region 12458 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:30714441-30715640 Neighboring gene BACH1 intronic transcript 2 Neighboring gene small nucleolar RNA U13

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • AP000240.4

    Gene Ontology Provided by GOA

    General protein information

    Preferred Names
    transcription regulator protein BACH1
    Names
    BTB and CNC homology 1, basic leucine zipper transcription factor 1
    basic region leucine zipper transcriptional regulator BACH1

    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.

    Genomic

    1. NG_029658.2 RefSeqGene

      Range
      5024..52250
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001186.4NP_001177.1  transcription regulator protein BACH1

      See identical proteins and their annotated locations for NP_001177.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF124731, AI336948, BC063307
      Consensus CDS
      CCDS13585.1
      UniProtKB/Swiss-Prot
      O14867, O43285, Q6ICU0
      UniProtKB/TrEMBL
      A8K4Q6
      Related
      ENSP00000286800.3, ENST00000286800.8
      Conserved Domains (2) summary
      cd14719
      Location:551621
      bZIP_BACH; Basic leucine zipper (bZIP) domain of BTB and CNC homolog (BACH) proteins: a DNA-binding and dimerization domain
      pfam00651
      Location:24127
      BTB; BTB/POZ domain
    2. NM_206866.3NP_996749.1  transcription regulator protein BACH1

      See identical proteins and their annotated locations for NP_996749.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF026199, AF124731, AI336948, BC063307
      Consensus CDS
      CCDS13585.1
      UniProtKB/Swiss-Prot
      O14867, O43285, Q6ICU0
      UniProtKB/TrEMBL
      A8K4Q6
      Related
      ENSP00000382805.1, ENST00000399921.5
      Conserved Domains (2) summary
      cd14719
      Location:551621
      bZIP_BACH; Basic leucine zipper (bZIP) domain of BTB and CNC homolog (BACH) proteins: a DNA-binding and dimerization domain
      pfam00651
      Location:24127
      BTB; BTB/POZ domain

    RNA

    1. NR_027655.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AF317902, BC063307, DA855751

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      29298922..29361894
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      27664831..27727787
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001011545.1: Suppressed sequence

      Description
      NM_001011545.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.