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Q06547

- GABP1_HUMAN

UniProt

Q06547 - GABP1_HUMAN

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Protein

GA-binding protein subunit beta-1

Gene

GABPB1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Transcription factor capable of interacting with purine rich repeats (GA repeats). Necessary for the expression of the Adenovirus E4 gene.2 Publications

GO - Molecular functioni

  1. protein heterodimerization activity Source: MGI
  2. sequence-specific DNA binding transcription factor activity Source: ProtInc
  3. transcription regulatory region DNA binding Source: MGI

GO - Biological processi

  1. positive regulation of transcription from RNA polymerase II promoter Source: MGI
  2. regulation of transcription from RNA polymerase II promoter Source: ProtInc
  3. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiREACT_200608. Transcriptional activation of mitochondrial biogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
GA-binding protein subunit beta-1
Short name:
GABP subunit beta-1
Short name:
GABPB-1
Alternative name(s):
GABP subunit beta-2
Short name:
GABPB-2
Nuclear respiratory factor 2
Transcription factor E4TF1-47
Transcription factor E4TF1-53
Gene namesi
Name:GABPB1
Synonyms:E4TF1B, GABPB, GABPB2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:4074. GABPB1.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi262 – 2632QQ → AA: Minor reduction in transcriptional activation; when associated with A-295 or A-305 and A-306. 1 Publication
Mutagenesisi264 – 2652VV → AA: Minor effect upon interaction with HCFC1 and transcriptional activation. Loss of activity; when associated with A-297; A-298 and A-299, or with A-307 and A-310. 2 Publications
Mutagenesisi270 – 2712QQ → AA: Minor reduction in transcriptional activation. Moderate reduction in activity; when associated with A-305 and A-306. 1 Publication
Mutagenesisi273 – 2753ITI → ATA: Strongly reduces interaction with HCFC1 and transcriptional activation. Loss of activity; when associated with A-297; A-298 and A-299, or with A-307 and A-310. 2 Publications
Mutagenesisi295 – 2951Q → A: No effect on transcriptional activation. Minor reduction in activity; when associated with A-270 and A-271. 1 Publication
Mutagenesisi297 – 2993IIV → AAA: Strongly reduces interaction with HCFC1 and transcriptional activation. Loss of activity; when associated with A-264 and A-265, or A-273 and A-275. 2 Publications
Mutagenesisi305 – 3062QQ → AA: Minor reduction in transcriptional activation. Moderate reduction in activity; when associated with A-270 and A-271. 1 Publication
Mutagenesisi307 – 3104VLTV → ALTA: Moderately reduces interaction with HCFC1 and transcriptional activation. Loss of activity; when associated with A-273 and A-275. 2 Publications

Organism-specific databases

PharmGKBiPA162389163.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 395394GA-binding protein subunit beta-1PRO_0000066993Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ06547.
PaxDbiQ06547.
PRIDEiQ06547.

PTM databases

PhosphoSiteiQ06547.

Expressioni

Gene expression databases

BgeeiQ06547.
CleanExiHS_GABPB1.
HS_GABPB2.
ExpressionAtlasiQ06547. baseline and differential.
GenevestigatoriQ06547.

Organism-specific databases

HPAiHPA019653.

Interactioni

Subunit structurei

Heterotetramer of two alpha and two beta subunits. Interacts with HCFC1, causing repression of transcriptional activity.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
Bai2Q8CGM13EBI-618165,EBI-8014984From a different organism.
HCFC1P516106EBI-618189,EBI-396176
MAGEB18Q96M613EBI-618165,EBI-741835

Protein-protein interaction databases

BioGridi108827. 15 interactions.
IntActiQ06547. 15 interactions.
MINTiMINT-1504045.
STRINGi9606.ENSP00000370259.

Structurei

3D structure databases

ProteinModelPortaliQ06547.
SMRiQ06547. Positions 5-228.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati5 – 3430ANK 1Add
BLAST
Repeati37 – 6630ANK 2Add
BLAST
Repeati70 – 9930ANK 3Add
BLAST
Repeati103 – 13230ANK 4Add
BLAST
Repeati136 – 16631ANK 5Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni258 – 32770Transcription activation and HCFC1 interactionAdd
BLAST

Sequence similaritiesi

Contains 5 ANK repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiCOG0666.
GeneTreeiENSGT00750000117296.
HOVERGENiHBG051686.
InParanoidiQ06547.
KOiK09454.
OMAiVKRQCIE.
OrthoDBiEOG7ZD1W2.
PhylomeDBiQ06547.
TreeFamiTF326036.

Family and domain databases

Gene3Di1.25.40.20. 2 hits.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
[Graphical view]
PfamiPF00023. Ank. 3 hits.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 4 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 3 hits.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q06547-1) [UniParc]FASTAAdd to Basket

Also known as: GABPB-1, Beta-1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSLVDLGKKL LEAARAGQDD EVRILMANGA PFTTDWLGTS PLHLAAQYGH
60 70 80 90 100
YSTTEVLLRA GVSRDARTKV DRTPLHMAAS EGHASIVEVL LKHGADVNAK
110 120 130 140 150
DMLKMTALHW ATEHNHQEVV ELLIKYGADV HTQSKFCKTA FDISIDNGNE
160 170 180 190 200
DLAEILQIAM QNQINTNPES PDTVTIHAAT PQFIIGPGGV VNLTGLVSSE
210 220 230 240 250
NSSKATDETG VSAVQFGNSS TSVLATLAAL AEASAPLSNS SETPVVATEE
260 270 280 290 300
VVTAESVDGA IQQVVSSGGQ QVITIVTDGI QLGNLHSIPT SGIGQPIIVT
310 320 330 340 350
MPDGQQVLTV PATDIAEETV ISEEPPAKRQ CIEIIENRVE SAEIEEREAL
360 370 380 390
QKQLDEANRE AQKYRQQLLK KEQEAEAYRQ KLEAMTRLQT NKEAV
Length:395
Mass (Da):42,483
Last modified:September 19, 2002 - v2
Checksum:i723D63962FB29BD9
GO
Isoform 2 (identifier: Q06547-2) [UniParc]FASTAAdd to Basket

Also known as: Beta-2

The sequence of this isoform differs from the canonical sequence as follows:
     195-206: Missing.

Show »
Length:383
Mass (Da):41,321
Checksum:i07E7081A60016288
GO
Isoform 3 (identifier: Q06547-3) [UniParc]FASTAAdd to Basket

Also known as: GABPB-2, Gamma-1

The sequence of this isoform differs from the canonical sequence as follows:
     346-395: EREALQKQLDEANREAQKYRQQLLKKEQEAEAYRQKLEAMTRLQTNKEAV → VRSLLPGVLCRSHPK

Show »
Length:360
Mass (Da):38,111
Checksum:i39917E58EF91120F
GO
Isoform 4 (identifier: Q06547-4) [UniParc]FASTAAdd to Basket

Also known as: Gamma-2

The sequence of this isoform differs from the canonical sequence as follows:
     195-206: Missing.
     346-395: EREALQKQLDEANREAQKYRQQLLKKEQEAEAYRQKLEAMTRLQTNKEAV → VRSLLPGVLCRSHPK

Show »
Length:348
Mass (Da):36,950
Checksum:i9657186214E046D5
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti76 – 761H → L AA sequence (PubMed:7918435)Curated
Sequence conflicti246 – 2461Missing in BAA02573. (PubMed:8441384)Curated
Sequence conflicti274 – 2741T → A in AAH36080. (PubMed:15489334)Curated
Sequence conflicti341 – 3411S → C AA sequence (PubMed:8383622)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti31 – 311P → A in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035613

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei195 – 20612Missing in isoform 2 and isoform 4. 3 PublicationsVSP_000275Add
BLAST
Alternative sequencei346 – 39550EREAL…NKEAV → VRSLLPGVLCRSHPK in isoform 3 and isoform 4. 3 PublicationsVSP_009337Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D13316 mRNA. Translation: BAA02573.1.
D13317 mRNA. Translation: BAA02574.1.
U13045 mRNA. Translation: AAA65707.1.
U13046 mRNA. Translation: AAA65708.1.
U13047 mRNA. Translation: AAA65709.1.
U13048 mRNA. Translation: AAA65710.1.
EU159454 mRNA. Translation: ABV90874.1.
BT006652 mRNA. Translation: AAP35298.1.
CH471082 Genomic DNA. Translation: EAW77395.1.
BC016910 mRNA. Translation: AAH16910.1.
BC036080 mRNA. Translation: AAH36080.1.
BC050702 mRNA. Translation: AAH50702.1.
CCDSiCCDS10135.1. [Q06547-2]
CCDS10136.1. [Q06547-4]
CCDS32239.1. [Q06547-1]
CCDS45258.1. [Q06547-3]
PIRiC48146.
I38741.
I38743.
I38744.
RefSeqiNP_002032.2. NM_002041.4. [Q06547-3]
NP_005245.2. NM_005254.5. [Q06547-1]
NP_057738.1. NM_016654.4. [Q06547-2]
NP_057739.1. NM_016655.4. [Q06547-4]
NP_852092.1. NM_181427.3. [Q06547-4]
XP_005254330.1. XM_005254273.2. [Q06547-1]
XP_005254331.1. XM_005254274.2. [Q06547-1]
UniGeneiHs.654350.

Genome annotation databases

EnsembliENST00000220429; ENSP00000220429; ENSG00000104064. [Q06547-1]
ENST00000359031; ENSP00000351923; ENSG00000104064. [Q06547-4]
ENST00000380877; ENSP00000370259; ENSG00000104064. [Q06547-2]
ENST00000396464; ENSP00000379728; ENSG00000104064. [Q06547-4]
ENST00000429662; ENSP00000395771; ENSG00000104064. [Q06547-3]
GeneIDi2553.
KEGGihsa:2553.
UCSCiuc001zya.3. human. [Q06547-2]
uc001zyb.3. human. [Q06547-1]
uc001zyc.3. human. [Q06547-4]
uc001zye.3. human. [Q06547-3]

Polymorphism databases

DMDMi23503070.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D13316 mRNA. Translation: BAA02573.1 .
D13317 mRNA. Translation: BAA02574.1 .
U13045 mRNA. Translation: AAA65707.1 .
U13046 mRNA. Translation: AAA65708.1 .
U13047 mRNA. Translation: AAA65709.1 .
U13048 mRNA. Translation: AAA65710.1 .
EU159454 mRNA. Translation: ABV90874.1 .
BT006652 mRNA. Translation: AAP35298.1 .
CH471082 Genomic DNA. Translation: EAW77395.1 .
BC016910 mRNA. Translation: AAH16910.1 .
BC036080 mRNA. Translation: AAH36080.1 .
BC050702 mRNA. Translation: AAH50702.1 .
CCDSi CCDS10135.1. [Q06547-2 ]
CCDS10136.1. [Q06547-4 ]
CCDS32239.1. [Q06547-1 ]
CCDS45258.1. [Q06547-3 ]
PIRi C48146.
I38741.
I38743.
I38744.
RefSeqi NP_002032.2. NM_002041.4. [Q06547-3 ]
NP_005245.2. NM_005254.5. [Q06547-1 ]
NP_057738.1. NM_016654.4. [Q06547-2 ]
NP_057739.1. NM_016655.4. [Q06547-4 ]
NP_852092.1. NM_181427.3. [Q06547-4 ]
XP_005254330.1. XM_005254273.2. [Q06547-1 ]
XP_005254331.1. XM_005254274.2. [Q06547-1 ]
UniGenei Hs.654350.

3D structure databases

ProteinModelPortali Q06547.
SMRi Q06547. Positions 5-228.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108827. 15 interactions.
IntActi Q06547. 15 interactions.
MINTi MINT-1504045.
STRINGi 9606.ENSP00000370259.

PTM databases

PhosphoSitei Q06547.

Polymorphism databases

DMDMi 23503070.

Proteomic databases

MaxQBi Q06547.
PaxDbi Q06547.
PRIDEi Q06547.

Protocols and materials databases

DNASUi 2553.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000220429 ; ENSP00000220429 ; ENSG00000104064 . [Q06547-1 ]
ENST00000359031 ; ENSP00000351923 ; ENSG00000104064 . [Q06547-4 ]
ENST00000380877 ; ENSP00000370259 ; ENSG00000104064 . [Q06547-2 ]
ENST00000396464 ; ENSP00000379728 ; ENSG00000104064 . [Q06547-4 ]
ENST00000429662 ; ENSP00000395771 ; ENSG00000104064 . [Q06547-3 ]
GeneIDi 2553.
KEGGi hsa:2553.
UCSCi uc001zya.3. human. [Q06547-2 ]
uc001zyb.3. human. [Q06547-1 ]
uc001zyc.3. human. [Q06547-4 ]
uc001zye.3. human. [Q06547-3 ]

Organism-specific databases

CTDi 2553.
GeneCardsi GC15M050569.
HGNCi HGNC:4074. GABPB1.
HPAi HPA019653.
MIMi 600610. gene.
neXtProti NX_Q06547.
PharmGKBi PA162389163.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0666.
GeneTreei ENSGT00750000117296.
HOVERGENi HBG051686.
InParanoidi Q06547.
KOi K09454.
OMAi VKRQCIE.
OrthoDBi EOG7ZD1W2.
PhylomeDBi Q06547.
TreeFami TF326036.

Enzyme and pathway databases

Reactomei REACT_200608. Transcriptional activation of mitochondrial biogenesis.

Miscellaneous databases

GeneWikii GABPB2.
GenomeRNAii 2553.
NextBioi 10075.
PROi Q06547.
SOURCEi Search...

Gene expression databases

Bgeei Q06547.
CleanExi HS_GABPB1.
HS_GABPB2.
ExpressionAtlasi Q06547. baseline and differential.
Genevestigatori Q06547.

Family and domain databases

Gene3Di 1.25.40.20. 2 hits.
InterProi IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
[Graphical view ]
Pfami PF00023. Ank. 3 hits.
[Graphical view ]
PRINTSi PR01415. ANKYRIN.
SMARTi SM00248. ANK. 4 hits.
[Graphical view ]
SUPFAMi SSF48403. SSF48403. 1 hit.
PROSITEi PS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "cDNA cloning of transcription factor E4TF1 subunits with Ets and notch motifs."
    Watanabe H., Sawada J., Yano K., Yamaguchi K., Goto M., Handa H.
    Mol. Cell. Biol. 13:1385-1391(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  2. "Four structurally distinct, non-DNA-binding subunits of human nuclear respiratory factor 2 share a conserved transcriptional activation domain."
    Gugneja S., Virbasius J.V., Scarpulla R.C.
    Mol. Cell. Biol. 15:102-111(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4).
    Tissue: Testis.
  3. Yang S.J., Li K.N., Zhang Y.Q.
    Submitted (SEP-2007) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Hepatoma.
  4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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] (ISOFORMS 1; 2 AND 3).
    Tissue: Prostate, Testis and Uterus.
  7. "Purification and characterization of nuclear factors binding to the negative regulatory element D of human apolipoprotein A-II promoter: a negative regulatory effect is reversed by GABP, an Ets-related protein."
    Cardot P., Pastier D., Lacorte J.-M., Mangeney M., Zannis V.I., Chambaz J.
    Biochemistry 33:12139-12148(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 74-81.
  8. "Identity of GABP with NRF-2, a multisubunit activator of cytochrome oxidase expression, reveals a cellular role for an ETS domain activator of viral promoters."
    Virbasius J.V., Virbasius C.A., Scarpulla R.C.
    Genes Dev. 7:380-392(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 105-125 AND 339-385.
  9. "Nuclear respiratory factors 1 and 2 utilize similar glutamine-containing clusters of hydrophobic residues to activate transcription."
    Gugneja S., Virbasius C.M., Scarpulla R.C.
    Mol. Cell. Biol. 16:5708-5716(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, MUTAGENESIS OF 262-GLN-GLN-263; 264-VAL-VAL-265; 270-GLN-GLN-271; 273-ILE--ILE-275; GLN-295; 297-ILE--VAL-299; 305-GLN-GLN-306 AND 307-VAL--VAL-310.
  10. "The novel coactivator C1 (HCF) coordinates multiprotein enhancer formation and mediates transcription activation by GABP."
    Vogel J.L., Kristie T.M.
    EMBO J. 19:683-690(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH HCFC1, MUTAGENESIS OF 264-VAL-VAL-265; 273-ILE--ILE-275; 297-ILE--VAL-299 AND 307-VAL--VAL-310.
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  13. Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-31.

Entry informationi

Entry nameiGABP1_HUMAN
AccessioniPrimary (citable) accession number: Q06547
Secondary accession number(s): A8IE52
, Q06545, Q12940, Q12941, Q12942, Q8IYD0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: September 19, 2002
Last modified: October 29, 2014
This is version 155 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3