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UniProtKB - Q06547 (GABP1_HUMAN)

Protein

GA-binding protein subunit beta-1

Gene

GABPB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • DNA-binding transcription factor activity Source: ProtInc
  • protein heterodimerization activity Source: MGI
  • transcription regulatory region DNA binding Source: MGI
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
SIGNORiQ06547

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000104064.16
HGNCiHGNC:4074 GABPB1
MIMi600610 gene
neXtProtiNX_Q06547

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi262 – 263QQ → AA: Minor reduction in transcriptional activation; when associated with A-295 or A-305 and A-306. 1 Publication2
Mutagenesisi264 – 265VV → 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 Publications2
Mutagenesisi270 – 271QQ → AA: Minor reduction in transcriptional activation. Moderate reduction in activity; when associated with A-305 and A-306. 1 Publication2
Mutagenesisi273 – 275ITI → 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 Publications3
Mutagenesisi295Q → A: No effect on transcriptional activation. Minor reduction in activity; when associated with A-270 and A-271. 1 Publication1
Mutagenesisi297 – 299IIV → 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 Publications3
Mutagenesisi305 – 306QQ → AA: Minor reduction in transcriptional activation. Moderate reduction in activity; when associated with A-270 and A-271. 1 Publication2
Mutagenesisi307 – 310VLTV → ALTA: Moderately reduces interaction with HCFC1 and transcriptional activation. Loss of activity; when associated with A-273 and A-275. 2 Publications4

Organism-specific databases

DisGeNETi2553
OpenTargetsiENSG00000104064
PharmGKBiPA162389163

Polymorphism and mutation databases

BioMutaiGABPB1
DMDMi23503070

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000669932 – 395GA-binding protein subunit beta-1Add BLAST394

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ06547
MaxQBiQ06547
PaxDbiQ06547
PeptideAtlasiQ06547
PRIDEiQ06547
ProteomicsDBi58458
58459 [Q06547-2]
58460 [Q06547-3]
58461 [Q06547-4]

PTM databases

iPTMnetiQ06547
PhosphoSitePlusiQ06547

Expressioni

Gene expression databases

BgeeiENSG00000104064 Expressed in 216 organ(s), highest expression level in intestine
CleanExiHS_GABPB1
HS_GABPB2
ExpressionAtlasiQ06547 baseline and differential
GenevisibleiQ06547 HS

Organism-specific databases

HPAiHPA019653
HPA067444

Interactioni

Subunit structurei

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

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi108827, 28 interactors
DIPiDIP-33979N
IntActiQ06547, 29 interactors
MINTiQ06547
STRINGi9606.ENSP00000220429

Structurei

3D structure databases

ProteinModelPortaliQ06547
SMRiQ06547
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati5 – 34ANK 1Add BLAST30
Repeati37 – 66ANK 2Add BLAST30
Repeati70 – 99ANK 3Add BLAST30
Repeati103 – 132ANK 4Add BLAST30
Repeati136 – 166ANK 5Add BLAST31

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni258 – 327Transcription activation and HCFC1 interactionAdd BLAST70

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiENOG410IE1V Eukaryota
COG0666 LUCA
GeneTreeiENSGT00910000144124
HOVERGENiHBG051686
InParanoidiQ06547
KOiK09454
OMAiHAQSKFC
OrthoDBiEOG091G0AIM
PhylomeDBiQ06547
TreeFamiTF326036

Family and domain databases

CDDicd00204 ANK, 1 hit
Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
PfamiView protein in Pfam
PF12796 Ank_2, 1 hit
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 4 hits
SUPFAMiSSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 3 hits

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. AlignAdd to basket

This entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H7I4F5H7I4_HUMAN
GA-binding protein subunit beta-1
GABPB1
319Annotation score:
H9ZYI9H9ZYI9_HUMAN
GA binding protein transcription fa...
GABPB1 GABPB2, hCG_2002404
347Annotation score:
H0YNZ0H0YNZ0_HUMAN
GA-binding protein subunit beta-1
GABPB1
89Annotation score:
H0YMZ5H0YMZ5_HUMAN
GA-binding protein subunit beta-1
GABPB1
203Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti76H → L AA sequence (PubMed:7918435).Curated1
Sequence conflicti246Missing in BAA02573 (PubMed:8441384).Curated1
Sequence conflicti274T → A in AAH36080 (PubMed:15489334).Curated1
Sequence conflicti341S → C AA sequence (PubMed:8383622).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03561331P → A in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_000275195 – 206Missing in isoform 2 and isoform 4. 3 PublicationsAdd BLAST12
Alternative sequenceiVSP_009337346 – 395EREAL…NKEAV → VRSLLPGVLCRSHPK in isoform 3 and isoform 4. 3 PublicationsAdd BLAST50

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001307839.1, NM_001320910.1 [Q06547-1]
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_005254331.1, XM_005254274.3 [Q06547-1]
XP_016877542.1, XM_017022053.1 [Q06547-2]
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.4 human [Q06547-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001307839.1, NM_001320910.1 [Q06547-1]
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_005254331.1, XM_005254274.3 [Q06547-1]
XP_016877542.1, XM_017022053.1 [Q06547-2]
UniGeneiHs.654350

3D structure databases

ProteinModelPortaliQ06547
SMRiQ06547
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108827, 28 interactors
DIPiDIP-33979N
IntActiQ06547, 29 interactors
MINTiQ06547
STRINGi9606.ENSP00000220429

PTM databases

iPTMnetiQ06547
PhosphoSitePlusiQ06547

Polymorphism and mutation databases

BioMutaiGABPB1
DMDMi23503070

Proteomic databases

EPDiQ06547
MaxQBiQ06547
PaxDbiQ06547
PeptideAtlasiQ06547
PRIDEiQ06547
ProteomicsDBi58458
58459 [Q06547-2]
58460 [Q06547-3]
58461 [Q06547-4]

Protocols and materials databases

DNASUi2553
Structural Biology KnowledgebaseSearch...

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.4 human [Q06547-1]

Organism-specific databases

CTDi2553
DisGeNETi2553
EuPathDBiHostDB:ENSG00000104064.16
GeneCardsiGABPB1
HGNCiHGNC:4074 GABPB1
HPAiHPA019653
HPA067444
MIMi600610 gene
neXtProtiNX_Q06547
OpenTargetsiENSG00000104064
PharmGKBiPA162389163
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE1V Eukaryota
COG0666 LUCA
GeneTreeiENSGT00910000144124
HOVERGENiHBG051686
InParanoidiQ06547
KOiK09454
OMAiHAQSKFC
OrthoDBiEOG091G0AIM
PhylomeDBiQ06547
TreeFamiTF326036

Enzyme and pathway databases

ReactomeiR-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
SIGNORiQ06547

Miscellaneous databases

ChiTaRSiGABPB1 human
GeneWikiiGABPB2
GenomeRNAii2553
PROiPR:Q06547
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104064 Expressed in 216 organ(s), highest expression level in intestine
CleanExiHS_GABPB1
HS_GABPB2
ExpressionAtlasiQ06547 baseline and differential
GenevisibleiQ06547 HS

Family and domain databases

CDDicd00204 ANK, 1 hit
Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
PfamiView protein in Pfam
PF12796 Ank_2, 1 hit
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 4 hits
SUPFAMiSSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 3 hits
ProtoNetiSearch...

Entry informationi

Entry nameiGABP1_HUMAN
AccessioniPrimary (citable) accession number: Q06547
Secondary accession number(s): A8IE52
, Q06545, Q12940, Q12941, Q12942, Q8IYD0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: September 19, 2002
Last modified: November 7, 2018
This is version 189 of the entry and version 2 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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