UniProtKB - Q06547 (GABP1_HUMAN)
GA-binding protein subunit beta-1
GABPB1
Functioni
Transcription factor capable of interacting with purine rich repeats (GA repeats) (PubMed:8441384, PubMed:10675337, PubMed:8816484).
Acts as a a master regulator of nuclear-encoded mitochondrial genes (By similarity).
By similarity3 Publications(Microbial infection) Necessary for the expression of the Adenovirus E4 gene.
1 PublicationGO - Molecular functioni
- transcription cis-regulatory region binding Source: MGI
GO - Biological processi
- mitochondrion organization Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: MGI
Keywordsi
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q06547 |
Reactomei | R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis |
SignaLinki | Q06547 |
SIGNORi | Q06547 |
Names & Taxonomyi
Protein namesi | Recommended name: GA-binding protein subunit beta-1Short 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 E4TF1-471 Publication Transcription factor E4TF1-531 Publication |
Gene namesi | Name:GABPB1 Synonyms:E4TF1B1 Publication, GABPB, GABPB2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4074, GABPB1 |
MIMi | 600610, gene |
neXtProti | NX_Q06547 |
VEuPathDBi | HostDB:ENSG00000104064 |
Subcellular locationi
Nucleus
- Nucleus 2 Publications
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: MGI
Other locations
- cytoplasmic ribonucleoprotein granule Source: HPA
Keywords - Cellular componenti
NucleusPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 262 – 263 | QQ → AA: Minor reduction in transcriptional activation; when associated with A-295 or A-305 and A-306. 1 Publication | 2 | |
Mutagenesisi | 264 – 265 | VV → 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 | 2 | |
Mutagenesisi | 270 – 271 | QQ → AA: Minor reduction in transcriptional activation. Moderate reduction in activity; when associated with A-305 and A-306. 1 Publication | 2 | |
Mutagenesisi | 273 – 275 | ITI → 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 | 3 | |
Mutagenesisi | 295 | Q → A: No effect on transcriptional activation. Minor reduction in activity; when associated with A-270 and A-271. 1 Publication | 1 | |
Mutagenesisi | 297 – 299 | IIV → 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 | 3 | |
Mutagenesisi | 305 – 306 | QQ → AA: Minor reduction in transcriptional activation. Moderate reduction in activity; when associated with A-270 and A-271. 1 Publication | 2 | |
Mutagenesisi | 307 – 310 | VLTV → ALTA: Moderately reduces interaction with HCFC1 and transcriptional activation. Loss of activity; when associated with A-273 and A-275. 2 Publications | 4 |
Organism-specific databases
DisGeNETi | 2553 |
OpenTargetsi | ENSG00000104064 |
PharmGKBi | PA162389163 |
Miscellaneous databases
Pharosi | Q06547, Tbio |
Genetic variation databases
BioMutai | GABPB1 |
DMDMi | 23503070 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000066993 | 2 – 395 | GA-binding protein subunit beta-1Add BLAST | 394 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylserineCombined sources | 1 | |
Modified residuei | 69 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 352 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 381 | N6-acetyllysineBy similarity | 1 |
Post-translational modificationi
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q06547 |
jPOSTi | Q06547 |
MassIVEi | Q06547 |
MaxQBi | Q06547 |
PaxDbi | Q06547 |
PeptideAtlasi | Q06547 |
PRIDEi | Q06547 |
ProteomicsDBi | 58458 [Q06547-1] 58459 [Q06547-2] 58460 [Q06547-3] 58461 [Q06547-4] |
PTM databases
GlyGeni | Q06547, 3 sites, 2 O-linked glycans (3 sites) |
iPTMneti | Q06547 |
PhosphoSitePlusi | Q06547 |
Expressioni
Gene expression databases
Bgeei | ENSG00000104064, Expressed in intestine and 227 other tissues |
ExpressionAtlasi | Q06547, baseline and differential |
Genevisiblei | Q06547, HS |
Organism-specific databases
HPAi | ENSG00000104064, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Q06547
Isoform 2 [Q06547-2]
Isoform 3 [Q06547-3]
Protein-protein interaction databases
BioGRIDi | 108827, 41 interactors |
DIPi | DIP-33979N |
IntActi | Q06547, 69 interactors |
MINTi | Q06547 |
STRINGi | 9606.ENSP00000220429 |
Miscellaneous databases
RNActi | Q06547, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 5 – 34 | ANK 1Add BLAST | 30 | |
Repeati | 37 – 66 | ANK 2Add BLAST | 30 | |
Repeati | 70 – 99 | ANK 3Add BLAST | 30 | |
Repeati | 103 – 132 | ANK 4Add BLAST | 30 | |
Repeati | 136 – 166 | ANK 5Add BLAST | 31 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 258 – 327 | Transcription activation and HCFC1 interactionAdd BLAST | 70 |
Keywords - Domaini
ANK repeat, RepeatPhylogenomic databases
eggNOGi | ENOG502QRTX, Eukaryota |
GeneTreei | ENSGT00940000157875 |
HOGENOMi | CLU_000134_12_0_1 |
InParanoidi | Q06547 |
OMAi | ACRQKLE |
OrthoDBi | 1514706at2759 |
PhylomeDBi | Q06547 |
TreeFami | TF326036 |
Family and domain databases
Gene3Di | 1.25.40.20, 1 hit |
InterProi | View protein in InterPro IPR002110, Ankyrin_rpt IPR036770, Ankyrin_rpt-contain_sf |
Pfami | View protein in Pfam PF12796, Ank_2, 1 hit PF13637, Ank_4, 1 hit |
PRINTSi | PR01415, ANKYRIN |
SMARTi | View protein in SMART SM00248, ANK, 4 hits |
SUPFAMi | SSF48403, SSF48403, 1 hit |
PROSITEi | View protein in PROSITE PS50297, ANK_REP_REGION, 1 hit PS50088, ANK_REPEAT, 3 hits |
s (4+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5H7I4 | F5H7I4_HUMAN | GA-binding protein subunit beta-1 | GABPB1 | 319 | Annotation score: | ||
H9ZYI9 | H9ZYI9_HUMAN | GA binding protein transcription fa... | GABPB1 GABPB2, hCG_2002404 | 347 | Annotation score: | ||
H0YNZ0 | H0YNZ0_HUMAN | GA-binding protein subunit beta-1 | GABPB1 | 89 | Annotation score: | ||
H0YMZ5 | H0YMZ5_HUMAN | GA-binding protein subunit beta-1 | GABPB1 | 203 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 76 | H → L AA sequence (PubMed:7918435).Curated | 1 | |
Sequence conflicti | 246 | Missing in BAA02573 (PubMed:8441384).Curated | 1 | |
Sequence conflicti | 274 | T → A in AAH36080 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 341 | S → C AA sequence (PubMed:8383622).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_035613 | 31 | P → A in a colorectal cancer sample; somatic mutation. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_000275 | 195 – 206 | Missing in isoform 2 and isoform 4. 3 PublicationsAdd BLAST | 12 | |
Alternative sequenceiVSP_009337 | 346 – 395 | EREAL…NKEAV → VRSLLPGVLCRSHPK in isoform 3 and isoform 4. 3 PublicationsAdd BLAST | 50 |
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 |
CCDSi | CCDS10135.1 [Q06547-2] CCDS10136.1 [Q06547-4] CCDS32239.1 [Q06547-1] CCDS45258.1 [Q06547-3] |
PIRi | C48146 I38741 I38743 I38744 |
RefSeqi | NP_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] |
Genome annotation databases
Ensembli | ENST00000220429.12; ENSP00000220429.8; ENSG00000104064.18 ENST00000359031.8; ENSP00000351923.4; ENSG00000104064.18 [Q06547-4] ENST00000380877.8; ENSP00000370259.3; ENSG00000104064.18 [Q06547-2] ENST00000396464.7; ENSP00000379728.3; ENSG00000104064.18 [Q06547-4] ENST00000429662.6; ENSP00000395771.2; ENSG00000104064.18 [Q06547-3] |
GeneIDi | 2553 |
KEGGi | hsa:2553 |
MANE-Selecti | ENST00000380877.8; ENSP00000370259.3; NM_016654.5; NP_057738.1 [Q06547-2] |
UCSCi | uc001zya.4, human [Q06547-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS10135.1 [Q06547-2] CCDS10136.1 [Q06547-4] CCDS32239.1 [Q06547-1] CCDS45258.1 [Q06547-3] |
PIRi | C48146 I38741 I38743 I38744 |
RefSeqi | NP_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] |
3D structure databases
AlphaFoldDBi | Q06547 |
SMRi | Q06547 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 108827, 41 interactors |
DIPi | DIP-33979N |
IntActi | Q06547, 69 interactors |
MINTi | Q06547 |
STRINGi | 9606.ENSP00000220429 |
PTM databases
GlyGeni | Q06547, 3 sites, 2 O-linked glycans (3 sites) |
iPTMneti | Q06547 |
PhosphoSitePlusi | Q06547 |
Genetic variation databases
BioMutai | GABPB1 |
DMDMi | 23503070 |
Proteomic databases
EPDi | Q06547 |
jPOSTi | Q06547 |
MassIVEi | Q06547 |
MaxQBi | Q06547 |
PaxDbi | Q06547 |
PeptideAtlasi | Q06547 |
PRIDEi | Q06547 |
ProteomicsDBi | 58458 [Q06547-1] 58459 [Q06547-2] 58460 [Q06547-3] 58461 [Q06547-4] |
Protocols and materials databases
Antibodypediai | 1425, 328 antibodies from 34 providers |
DNASUi | 2553 |
Genome annotation databases
Ensembli | ENST00000220429.12; ENSP00000220429.8; ENSG00000104064.18 ENST00000359031.8; ENSP00000351923.4; ENSG00000104064.18 [Q06547-4] ENST00000380877.8; ENSP00000370259.3; ENSG00000104064.18 [Q06547-2] ENST00000396464.7; ENSP00000379728.3; ENSG00000104064.18 [Q06547-4] ENST00000429662.6; ENSP00000395771.2; ENSG00000104064.18 [Q06547-3] |
GeneIDi | 2553 |
KEGGi | hsa:2553 |
MANE-Selecti | ENST00000380877.8; ENSP00000370259.3; NM_016654.5; NP_057738.1 [Q06547-2] |
UCSCi | uc001zya.4, human [Q06547-1] |
Organism-specific databases
CTDi | 2553 |
DisGeNETi | 2553 |
GeneCardsi | GABPB1 |
HGNCi | HGNC:4074, GABPB1 |
HPAi | ENSG00000104064, Low tissue specificity |
MIMi | 600610, gene |
neXtProti | NX_Q06547 |
OpenTargetsi | ENSG00000104064 |
PharmGKBi | PA162389163 |
VEuPathDBi | HostDB:ENSG00000104064 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QRTX, Eukaryota |
GeneTreei | ENSGT00940000157875 |
HOGENOMi | CLU_000134_12_0_1 |
InParanoidi | Q06547 |
OMAi | ACRQKLE |
OrthoDBi | 1514706at2759 |
PhylomeDBi | Q06547 |
TreeFami | TF326036 |
Enzyme and pathway databases
PathwayCommonsi | Q06547 |
Reactomei | R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis |
SignaLinki | Q06547 |
SIGNORi | Q06547 |
Miscellaneous databases
BioGRID-ORCSi | 2553, 350 hits in 1091 CRISPR screens |
ChiTaRSi | GABPB1, human |
GeneWikii | GABPB2 |
GenomeRNAii | 2553 |
Pharosi | Q06547, Tbio |
PROi | PR:Q06547 |
RNActi | Q06547, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000104064, Expressed in intestine and 227 other tissues |
ExpressionAtlasi | Q06547, baseline and differential |
Genevisiblei | Q06547, HS |
Family and domain databases
Gene3Di | 1.25.40.20, 1 hit |
InterProi | View protein in InterPro IPR002110, Ankyrin_rpt IPR036770, Ankyrin_rpt-contain_sf |
Pfami | View protein in Pfam PF12796, Ank_2, 1 hit PF13637, Ank_4, 1 hit |
PRINTSi | PR01415, ANKYRIN |
SMARTi | View protein in SMART SM00248, ANK, 4 hits |
SUPFAMi | SSF48403, SSF48403, 1 hit |
PROSITEi | View protein in PROSITE PS50297, ANK_REP_REGION, 1 hit PS50088, ANK_REPEAT, 3 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | GABP1_HUMAN | |
Accessioni | Q06547Primary (citable) accession number: Q06547 Secondary accession number(s): A8IE52 Q8IYD0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1995 |
Last sequence update: | September 19, 2002 | |
Last modified: | May 25, 2022 | |
This is version 211 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot