• Gene id: 571

Gene Summary

• Gene Symbol: BACH1   Gene   UCSC   Ensembl
• Aliases: BACH-1, BTBD24
• Gene name: BTB domain and CNC homolog 1
• Alternate names: transcription regulator protein BACH1, BTB and CNC homology 1, basic leucine zipper transcription factor 1, basic region leucine zipper transcriptional regulator BACH1,
• Gene location: 21q21.3 (29298921: 29361895)     Exons: 11     NC_000021.9
• Gene summary(Entrez): 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
• OMIM: 602751

SNPs

rs6124715

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.45548848C>G
NC_000020.11   g.45548848C>T
NC_000020.10   g.44177487C>G
NC_000020.10   g.44177487C>T|SEQ=[C/G/T]|GENE=EPPIN
EPPIN-WFDC6   100526773

rs2227290

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.45547503G>C
NC_000020.11   g.45547503G>T
NC_000020.10   g.44176142G>C
NC_000020.10   g.44176142G>T|SEQ=[G/C/T]|GENE=EPPIN
EPPIN-WFDC6   100526773

Protein Summary

• Protein general information: O14867  
  • Name: Transcription regulator protein BACH1 (BTB and CNC homolog 1) (HA2303)
  • Length: 736  
  • Mass: 81958
• Sequence:

  MSLSENSVFAYESSVHSTNVLLSLNDQRKKDVLCDVTIFVEGQRFRAHRSVLAACSSYFHSRIVGQADGELNITL
  PEEVTVKGFEPLIQFAYTAKLILSKENVDEVCKCVEFLSVHNIEESCFQFLKFKFLDSTADQQECPRKKCFSSHC
  QKTDLKLSLLDQRDLETDEVEEFLENKNVQTPQCKLRRYQGNAKASPPLQDSASQTYESMCLEKDAALALPSLCP
  KYRKFQKAFGTDRVRTGESSVKDIHASVQPNERSENECLGGVPECRDLQVMLKCDESKLAMEPEETKKDPASQCP
  TEKSEVTPFPHNSSIDPHGLYSLSLLHTYDQYGDLNFAGMQNTTVLTEKPLSGTDVQEKTFGESQDLPLKSDLGT
  REDSSVASSDRSSVEREVAEHLAKGFWSDICSTDTPCQMQLSPAVAKDGSEQISQKRSECPWLGIRISESPEPGQ
  RTFTTLSSVNCPFISTLSTEGCSSNLEIGNDDYVSEPQQEPCPYACVISLGDDSETDTEGDSESCSAREQECEVK
  LPFNAQRIISLSRNDFQSLLKMHKLTPEQLDCIHDIRRRSKNRIAAQRCRKRKLDCIQNLESEIEKLQSEKESLL
  KERDHILSTLGETKQNLTGLCQKVCKEAALSQEQIQILAKYSAADCPLSFLISEKDKSTPDGELALPSIFSLSDR
  PPAVLPPCARGNSEPGYARGQESQQMSTATSEQAGPAEQCRQSGGISDFCQQMTDKCTTDE

• Structural information:
  • Protein Domains: (34..10-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (557..62-)
    (/note="bZIP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00978"-)
  • Interpro: IPR000210  IPR004827  IPR004826  IPR011333  IPR008917  
  • Prosite: PS50097 PS50217 PS00036
  • PDB: 2IHC
  • PDBsum: 2IHC
  • DIP: 24223
  • STRING: ENSP00000382805
• Other Databases: GeneCards:  BACH1  Malacards:  BACH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0006281	DNA repair	IMP	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0003700	DNA-binding transcription factor activity	ISS	molecular function
GO:0006355	regulation of transcription, DNA-templated	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0061418	regulation of transcription from RNA polymerase II promoter in response to hypoxia	IDA	biological process
GO:0005634	nucleus	HDA	colocalizes with
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IMP	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0020037	heme binding	NAS	molecular function
GO:0005829	cytosol	HDA	colocalizes with
GO:0000117	regulation of transcription involved in G2/M transition of mitotic cell cycle	IMP	biological process
GO:0000083	regulation of transcription involved in G1/S transition of mitotic cell cycle	IMP	biological process
GO:0005634	nucleus	HDA	cellular component
GO:0005737	cytoplasm	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R