O14867 (BACH1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Transcription regulator protein BACH1

Alternative name(s):
BTB and CNC homolog 1
HA2303

Gene names

Name:

BACH1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	736 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Ligand	DNA-binding
Molecular function	Activator Repressor
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	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 phase of mitotic cell cycle Inferred from mutant phenotype PubMed 21555518. Source: UniProtKB regulation of transcription involved in G2/M-phase of mitotic cell cycle Inferred from mutant phenotype PubMed 21555518. Source: UniProtKB
Cellular_component	nucleus Inferred from direct assay PubMed 12511571. Source: UniProtKB
Molecular_function	RNA 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
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 736

736

Transcription regulator protein BACH1

PRO_0000076454

Regions

Domain

34 – 100

67

BTB

Domain

557 – 620

64

bZIP

Region

562 – 578

17

Basic motif By similarity

Region

582 – 589

8

Leucine-zipper By similarity

Amino acid modifications

Modified residue

445

1

Phosphoserine Ref.6 Ref.7

Natural variations

Natural variant

314

1

S → P.
Corresponds to variant rs35474725 [ dbSNP | Ensembl ].

VAR_048441

Experimental info

Sequence conflict

158

1

S → T in AAB84100. Ref.1

Sequence conflict

171

1

E → G in AAB84100. Ref.1

Secondary structure

1

.

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.

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736

Helix Strand Turn

Details...

Beta strand

8 – 12

5

Helix

16 – 30

15

Beta strand

36 – 40

5

Beta strand

43 – 47

5

Helix

49 – 55

7

Helix

57 – 63

7

Beta strand

71 – 74

4

Helix

81 – 93

13

Beta strand

94 – 99

6

Turn

100 – 102

3

Helix

103 – 113

11

Beta strand

115 – 117

3

Helix

120 – 124

5

Sequences

	Sequence		Length	Mass (Da)
	O14867 [UniParc]. Last modified May 30, 2000. Version 2. Checksum: CAAEECC63D46571B	FASTA	736	81,958
	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

References

	« Hide 'large scale' referencesShow '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. , 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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.

IPI

IPI00024235.

PIR

T00023.

RefSeq

NP_001177.1. NM_001186.2.
NP_996749.1. NM_206866.1.

UniGene

Hs.154276.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2IHC	X-ray	2.44	A/B/C/D	7-128	[»]

ProteinModelPortal

O14867.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-24223N.

IntAct

O14867. 3 interactions.

STRING

9606.ENSP00000286800.

PTM databases

PhosphoSite

O14867.

Proteomic databases

PaxDb

O14867.

PRIDE

O14867.

Protocols and materials databases

DNASU

571.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000286800; ENSP00000286800; ENSG00000156273.
ENST00000399921; ENSP00000382805; ENSG00000156273.

GeneID

571.

KEGG

hsa:571.

UCSC

uc002ynj.3. human.

Organism-specific databases

CTD

571.

GeneCards

GC21P030567.

HGNC

HGNC:935. BACH1.

HPA

HPA003175.

MIM

602751. gene.

neXtProt

NX_O14867.

PharmGKB

PA25234.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG308993.

HOGENOM

HOG000231712.

HOVERGEN

HBG099852.

InParanoid

O14867.

KO

K09042.

OMA

NKNVQTP.

OrthoDB

EOG4CJVH8.

PhylomeDB

O14867.

Gene expression databases

ArrayExpress

O14867.

Bgee

O14867.

CleanEx

HS_BACH1.

Genevestigator

O14867.

GermOnline

ENSG00000156273. Homo sapiens.

Family and domain databases

Gene3D

1.10.880.10. 1 hit.
3.30.710.10. 1 hit.

InterPro

IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR004827. bZIP.
IPR008917. Euk_TF_DNA-bd.
[Graphical view]

Pfam

PF00651. BTB. 1 hit.
PF00170. bZIP_1. 1 hit.
[Graphical view]

SMART

SM00338. BRLZ. 1 hit.
SM00225. BTB. 1 hit.
[Graphical view]

SUPFAM

SSF54695. BTB/POZ_fold. 1 hit.
SSF47454. Euk_transcr_DNA. 1 hit.

PROSITE

PS50097. BTB. 1 hit.
PS50217. BZIP. 1 hit.
PS00036. BZIP_BASIC. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

BACH1. human.

EvolutionaryTrace

O14867.

GenomeRNAi

571.

NextBio

2323.

SOURCE

Search...

Entry information

Entry name

BACH1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 125 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.