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

Gene ID: 571, updated on 13-Jan-2019

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
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

Genomic context

See BACH1 in Genome Data Viewer
Location:
21q21.3
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 21 NC_000021.9 (29298795..29361896)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (30671151..30734257)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 189 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 14 Neighboring gene uncharacterized LOC105369299 Neighboring gene BACH1 intronic transcript 2 Neighboring gene uncharacterized LOC107985486

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?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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)

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
    4897..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
    Related
    ENSP00000286800.3, ENST00000286800.7
    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_206866.2NP_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
    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_027655.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (t) differs in the 5' terminal exon, and contains an alternate 3' exon structure, including multiple additional 3' exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). This transcript was described by Kanezaki et al. (PMID: 11069897).
    Source sequence(s)
    AF317902, BC063307, DA855751, DB524401

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.p12 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p12 Primary Assembly

    Range
    29298795..29361896
    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.
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