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O14867 (BACH1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 138. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transcription regulator protein BACH1
Alternative name(s):
BTB and CNC homolog 1
HA2303
Gene names
Name:BACH1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length736 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transcriptional regulator that acts as repressor or activator. Binds, in vitro, to NF-E2 binding sites. Play important roles in coordinating transcription activation and repression by MAFK.

Subcellular location

Nucleus By similarity.

Sequence similarities

Belongs to the bZIP family. CNC subfamily.

Contains 1 BTB (POZ) domain.

Contains 1 bZIP (basic-leucine zipper) domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   LigandDNA-binding
   Molecular functionActivator
Repressor
   PTMPhosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processnegative regulation of transcription from RNA polymerase II promoter

Inferred from mutant phenotype PubMed 21555518. Source: UniProtKB

regulation of transcription from RNA polymerase II promoter in response to hypoxia

Inferred from direct assay PubMed 12511571. Source: UniProtKB

regulation of transcription involved in G1/S transition of mitotic cell cycle

Inferred from mutant phenotype PubMed 21555518. Source: UniProtKB

regulation of transcription involved in G2/M transition of mitotic cell cycle

Inferred from mutant phenotype PubMed 21555518. Source: UniProtKB

regulation of transcription, DNA-templated

Inferred from sequence or structural similarity. Source: UniProtKB

   Cellular_componentnucleus

Inferred from direct assay PubMed 12511571. Source: UniProtKB

   Molecular_functionRNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription

Inferred from direct assay PubMed 12511571. Source: UniProtKB

heme binding

Non-traceable author statement PubMed 21555518. Source: UniProtKB

sequence-specific DNA binding

Inferred from electronic annotation. Source: InterPro

sequence-specific DNA binding transcription factor activity

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 736736Transcription regulator protein BACH1
PRO_0000076454

Regions

Domain34 – 10067BTB
Domain557 – 62064bZIP
Region562 – 57817Basic motif By similarity
Region582 – 5898Leucine-zipper By similarity

Amino acid modifications

Modified residue4451Phosphoserine Ref.6 Ref.7

Natural variations

Natural variant3141S → P.
Corresponds to variant rs35474725 [ dbSNP | Ensembl ].
VAR_048441

Experimental info

Sequence conflict1581S → T in AAB84100. Ref.1
Sequence conflict1711E → G in AAB84100. Ref.1

Secondary structure

........................ 736
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
O14867 [UniParc].

Last modified May 30, 2000. Version 2.
Checksum: CAAEECC63D46571B

FASTA73681,958
        10         20         30         40         50         60 
MSLSENSVFA YESSVHSTNV LLSLNDQRKK DVLCDVTIFV EGQRFRAHRS VLAACSSYFH 

        70         80         90        100        110        120 
SRIVGQADGE LNITLPEEVT VKGFEPLIQF AYTAKLILSK ENVDEVCKCV EFLSVHNIEE 

       130        140        150        160        170        180 
SCFQFLKFKF LDSTADQQEC PRKKCFSSHC QKTDLKLSLL DQRDLETDEV EEFLENKNVQ 

       190        200        210        220        230        240 
TPQCKLRRYQ GNAKASPPLQ DSASQTYESM CLEKDAALAL PSLCPKYRKF QKAFGTDRVR 

       250        260        270        280        290        300 
TGESSVKDIH ASVQPNERSE NECLGGVPEC RDLQVMLKCD ESKLAMEPEE TKKDPASQCP 

       310        320        330        340        350        360 
TEKSEVTPFP HNSSIDPHGL YSLSLLHTYD QYGDLNFAGM QNTTVLTEKP LSGTDVQEKT 

       370        380        390        400        410        420 
FGESQDLPLK SDLGTREDSS VASSDRSSVE REVAEHLAKG FWSDICSTDT PCQMQLSPAV 

       430        440        450        460        470        480 
AKDGSEQISQ KRSECPWLGI RISESPEPGQ RTFTTLSSVN CPFISTLSTE GCSSNLEIGN 

       490        500        510        520        530        540 
DDYVSEPQQE PCPYACVISL GDDSETDTEG DSESCSAREQ ECEVKLPFNA QRIISLSRND 

       550        560        570        580        590        600 
FQSLLKMHKL TPEQLDCIHD IRRRSKNRIA AQRCRKRKLD CIQNLESEIE KLQSEKESLL 

       610        620        630        640        650        660 
KERDHILSTL GETKQNLTGL CQKVCKEAAL SQEQIQILAK YSAADCPLSF LISEKDKSTP 

       670        680        690        700        710        720 
DGELALPSIF SLSDRPPAVL PPCARGNSEP GYARGQESQQ MSTATSEQAG PAEQCRQSGG 

       730 
ISDFCQQMTD KCTTDE 

« Hide

References

« Hide 'large scale' references
[1]"Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1."
Blouin J.-L., Duriaux Sail G., Guipponi M., Rossier C., Pappasavas M.-P., Antonarakis S.E.
Hum. Genet. 102:282-288(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"Characterization of a human homolog (BACH1) of the mouse Bach1 gene encoding a BTB-basic leucine zipper transcription factor and its mapping to chromosome 21q22.1."
Ohira M., Seki N., Nagase T., Ishikawa K., Nomura N., Ohara O.
Genomics 47:300-306(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]Taudien S., Dagand E., Delabar J., Nordsiek G., Drescher B., Weber J., Schattevoy R., Yaspo M.-L., Rosenthal A.
Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]"The DNA sequence of human chromosome 21."
Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. expand/collapse author list , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Placenta.
[6]"A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-445, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[7]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-445, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Crystal structure of the bric-a-brac (BTB) domain of human BACH1."
Structural genomics consortium (SGC)
Submitted (FEB-2009) to the PDB data bank
Cited for: X-RAY CRYSTALLOGRAPHY (2.44 ANGSTROMS) OF 7-128.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF026199 mRNA. Translation: AAB84100.1.
AF026200 mRNA. Translation: AAB84101.1.
AB002803 mRNA. Translation: BAA24932.1.
AF124731 Genomic DNA. Translation: AAD14689.1.
AL163249 Genomic DNA. Translation: CAB90435.1.
AP001705 Genomic DNA. Translation: BAA95505.1.
BC063307 mRNA. Translation: AAH63307.1.
CCDSCCDS13585.1.
PIRT00023.
RefSeqNP_001177.1. NM_001186.2.
NP_996749.1. NM_206866.1.
XP_005261069.1. XM_005261012.1.
XP_005261070.1. XM_005261013.2.
XP_005261071.1. XM_005261014.1.
UniGeneHs.154276.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2IHCX-ray2.44A/B/C/D7-128[»]
ProteinModelPortalO14867.
SMRO14867. Positions 7-126, 524-617.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107047. 31 interactions.
DIPDIP-24223N.
IntActO14867. 5 interactions.
MINTMINT-196655.
STRING9606.ENSP00000286800.

PTM databases

PhosphoSiteO14867.

Proteomic databases

MaxQBO14867.
PaxDbO14867.
PRIDEO14867.

Protocols and materials databases

DNASU571.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000286800; ENSP00000286800; ENSG00000156273.
ENST00000399921; ENSP00000382805; ENSG00000156273.
GeneID571.
KEGGhsa:571.
UCSCuc002ynj.3. human.

Organism-specific databases

CTD571.
GeneCardsGC21P030570.
HGNCHGNC:935. BACH1.
HPAHPA003175.
HPA034949.
MIM602751. gene.
neXtProtNX_O14867.
PharmGKBPA25234.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG308993.
HOGENOMHOG000231712.
HOVERGENHBG099852.
InParanoidO14867.
KOK09042.
OMAENKNVQT.
OrthoDBEOG73V6JP.
PhylomeDBO14867.
TreeFamTF326681.

Gene expression databases

ArrayExpressO14867.
BgeeO14867.
CleanExHS_BACH1.
GenevestigatorO14867.

Family and domain databases

Gene3D1.10.880.10. 1 hit.
3.30.710.10. 1 hit.
InterProIPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR004827. bZIP.
IPR004826. bZIP_Maf.
IPR008917. TF_DNA-bd.
[Graphical view]
PfamPF00651. BTB. 1 hit.
PF03131. bZIP_Maf. 1 hit.
[Graphical view]
SMARTSM00338. BRLZ. 1 hit.
SM00225. BTB. 1 hit.
[Graphical view]
SUPFAMSSF47454. SSF47454. 1 hit.
SSF54695. SSF54695. 1 hit.
PROSITEPS50097. BTB. 1 hit.
PS50217. BZIP. 1 hit.
PS00036. BZIP_BASIC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSBACH1. human.
EvolutionaryTraceO14867.
GeneWikiBACH1.
GenomeRNAi571.
NextBio2323.
PROO14867.
SOURCESearch...

Entry information

Entry nameBACH1_HUMAN
AccessionPrimary (citable) accession number: O14867
Secondary accession number(s): O43285
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: May 30, 2000
Last modified: July 9, 2014
This is version 138 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 21

Human chromosome 21: entries, gene names and cross-references to MIM