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P18505

- GBRB1_HUMAN

UniProt

P18505 - GBRB1_HUMAN

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Protein
Gamma-aminobutyric acid receptor subunit beta-1
Gene
GABRB1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

Functioni

GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.

GO - Molecular functioni

  1. GABA-A receptor activity Source: ProtInc
  2. chloride channel activity Source: UniProtKB-KW
  3. extracellular ligand-gated ion channel activity Source: InterPro
Complete GO annotation...

GO - Biological processi

  1. ion transmembrane transport Source: Reactome
  2. signal transduction Source: ProtInc
  3. synaptic transmission Source: Reactome
  4. transmembrane transport Source: Reactome
  5. transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel, Ligand-gated ion channel, Receptor

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

Enzyme and pathway databases

ReactomeiREACT_24987. GABA A receptor activation.
REACT_25387. Ligand-gated ion channel transport.

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-aminobutyric acid receptor subunit beta-1
Alternative name(s):
GABA(A) receptor subunit beta-1
Gene namesi
Name:GABRB1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:4081. GABRB1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini26 – 245220Extracellular Inferred
Add
BLAST
Transmembranei246 – 26722Helical; Inferred
Add
BLAST
Transmembranei271 – 29323Helical; Inferred
Add
BLAST
Transmembranei305 – 32723Helical; Inferred
Add
BLAST
Topological domaini328 – 451124Cytoplasmic Inferred
Add
BLAST
Transmembranei452 – 47322Helical; Inferred
Add
BLAST

GO - Cellular componenti

  1. cell junction Source: UniProtKB-KW
  2. chloride channel complex Source: UniProtKB-KW
  3. integral component of plasma membrane Source: ProtInc
  4. plasma membrane Source: Reactome
  5. postsynaptic membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA28495.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2525 Reviewed prediction
Add
BLAST
Chaini26 – 474449Gamma-aminobutyric acid receptor subunit beta-1
PRO_0000000456Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi105 – 1051N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi161 ↔ 175 By similarity
Glycosylationi174 – 1741N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP18505.
PRIDEiP18505.

PTM databases

PhosphoSiteiP18505.

Expressioni

Gene expression databases

ArrayExpressiP18505.
BgeeiP18505.
CleanExiHS_GABRB1.
GenevestigatoriP18505.

Organism-specific databases

HPAiHPA051297.

Interactioni

Subunit structurei

Binds UBQLN1 By similarity. Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. Interacts with KCTD8, KCTD12 and KCTD16; this interaction determines the pharmacology and kinetics of the receptor response, the KCTD proteins markedly accelerating the GABA-B response, although to different extents By similarity.

Protein-protein interaction databases

BioGridi108834. 6 interactions.
IntActiP18505. 2 interactions.
STRINGi9606.ENSP00000295454.

Structurei

3D structure databases

ProteinModelPortaliP18505.
SMRiP18505. Positions 47-346.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG77438.
HOGENOMiHOG000231335.
HOVERGENiHBG051707.
InParanoidiP18505.
KOiK05181.
OMAiDSASIHY.
PhylomeDBiP18505.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR002289. GABAAb_rcpt.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view]
PANTHERiPTHR18945. PTHR18945. 1 hit.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR01160. GABAARBETA.
PR00253. GABAARECEPTR.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P18505-1) [UniParc]FASTAAdd to Basket

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

MWTVQNRESL GLLSFPVMIT MVCCAHSTNE PSNMSYVKET VDRLLKGYDI    50
RLRPDFGGPP VDVGMRIDVA SIDMVSEVNM DYTLTMYFQQ SWKDKRLSYS 100
GIPLNLTLDN RVADQLWVPD TYFLNDKKSF VHGVTVKNRM IRLHPDGTVL 150
YGLRITTTAA CMMDLRRYPL DEQNCTLEIE SYGYTTDDIE FYWNGGEGAV 200
TGVNKIELPQ FSIVDYKMVS KKVEFTTGAY PRLSLSFRLK RNIGYFILQT 250
YMPSTLITIL SWVSFWINYD ASAARVALGI TTVLTMTTIS THLRETLPKI 300
PYVKAIDIYL MGCFVFVFLA LLEYAFVNYI FFGKGPQKKG ASKQDQSANE 350
KNKLEMNKVQ VDAHGNILLS TLEIRNETSG SEVLTSVSDP KATMYSYDSA 400
SIQYRKPLSS REAYGRALDR HGVPSKGRIR RRASQLKVKI PDLTDVNSID 450
KWSRMFFPIT FSLFNVVYWL YYVH 474
Length:474
Mass (Da):54,235
Last modified:October 10, 2002 - v2
Checksum:i05DA70F6FCD04E54
GO
Isoform 2 (identifier: P18505-2) [UniParc]FASTAAdd to Basket

Also known as: B

The sequence of this isoform differs from the canonical sequence as follows:
     59-87: PPVDVGMRIDVASIDMVSEVNMDYTLTMY → LYTHHVFPAVLERQKAFLFWNPTEPHPRQ
     88-474: Missing.

Show »
Length:87
Mass (Da):10,151
Checksum:i643ED4FE2F506FDA
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti421 – 4211H → Q Found in 1.1% of population and in some schizophrenic patients. 1 Publication
Corresponds to variant rs41311286 [ dbSNP | Ensembl ].
VAR_000302
Natural varianti429 – 4291I → N.1 Publication
Corresponds to variant rs17852014 [ dbSNP | Ensembl ].
VAR_035441

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei59 – 8729PPVDV…TLTMY → LYTHHVFPAVLERQKAFLFW NPTEPHPRQ in isoform 2.
VSP_055900Add
BLAST
Alternative sequencei88 – 474387Missing in isoform 2.
VSP_055901Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti35 – 351S → P in CAA32875. 1 Publication
Sequence conflicti117 – 1171W → C in AAH22449. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X14767 mRNA. Translation: CAA32875.1.
M59216
, M59212, M59214, M59215 Genomic DNA. Translation: AAA35862.1.
KJ535054 mRNA. Translation: AHW56693.1.
AK312720 mRNA. Translation: BAG35594.1.
AC097712 Genomic DNA. No translation available.
AC105394 Genomic DNA. No translation available.
AC107383 Genomic DNA. No translation available.
AC107392 Genomic DNA. No translation available.
CH471069 Genomic DNA. Translation: EAW93031.1.
BC022449 mRNA. Translation: AAH22449.1.
S70733 mRNA. Translation: AAB30712.1.
CCDSiCCDS3474.1.
PIRiA40336.
RefSeqiNP_000803.2. NM_000812.3.
UniGeneiHs.27283.
Hs.633316.

Genome annotation databases

EnsembliENST00000295454; ENSP00000295454; ENSG00000163288.
ENST00000510909; ENSP00000426766; ENSG00000163288.
GeneIDi2560.
KEGGihsa:2560.
UCSCiuc003gxh.3. human.

Polymorphism databases

DMDMi23831128.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Protein Spotlight

Forbidden fruit - Issue 56 of March 2005

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X14767 mRNA. Translation: CAA32875.1 .
M59216
, M59212 , M59214 , M59215 Genomic DNA. Translation: AAA35862.1 .
KJ535054 mRNA. Translation: AHW56693.1 .
AK312720 mRNA. Translation: BAG35594.1 .
AC097712 Genomic DNA. No translation available.
AC105394 Genomic DNA. No translation available.
AC107383 Genomic DNA. No translation available.
AC107392 Genomic DNA. No translation available.
CH471069 Genomic DNA. Translation: EAW93031.1 .
BC022449 mRNA. Translation: AAH22449.1 .
S70733 mRNA. Translation: AAB30712.1 .
CCDSi CCDS3474.1.
PIRi A40336.
RefSeqi NP_000803.2. NM_000812.3.
UniGenei Hs.27283.
Hs.633316.

3D structure databases

ProteinModelPortali P18505.
SMRi P18505. Positions 47-346.
ModBasei Search...

Protein-protein interaction databases

BioGridi 108834. 6 interactions.
IntActi P18505. 2 interactions.
STRINGi 9606.ENSP00000295454.

Chemistry

BindingDBi P18505.
ChEMBLi CHEMBL2093872.
DrugBanki DB00189. Ethchlorvynol.
DB00690. Flurazepam.
DB00186. Lorazepam.
DB00683. Midazolam.
GuidetoPHARMACOLOGYi 410.

PTM databases

PhosphoSitei P18505.

Polymorphism databases

DMDMi 23831128.

Proteomic databases

PaxDbi P18505.
PRIDEi P18505.

Protocols and materials databases

DNASUi 2560.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000295454 ; ENSP00000295454 ; ENSG00000163288 .
ENST00000510909 ; ENSP00000426766 ; ENSG00000163288 .
GeneIDi 2560.
KEGGi hsa:2560.
UCSCi uc003gxh.3. human.

Organism-specific databases

CTDi 2560.
GeneCardsi GC04P046949.
H-InvDB HIX0004191.
HIX0164000.
HGNCi HGNC:4081. GABRB1.
HPAi HPA051297.
MIMi 137190. gene.
neXtProti NX_P18505.
PharmGKBi PA28495.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG77438.
HOGENOMi HOG000231335.
HOVERGENi HBG051707.
InParanoidi P18505.
KOi K05181.
OMAi DSASIHY.
PhylomeDBi P18505.
TreeFami TF315453.

Enzyme and pathway databases

Reactomei REACT_24987. GABA A receptor activation.
REACT_25387. Ligand-gated ion channel transport.

Miscellaneous databases

GeneWikii GABRB1.
GenomeRNAii 2560.
NextBioi 10111.
PROi P18505.
SOURCEi Search...

Gene expression databases

ArrayExpressi P18505.
Bgeei P18505.
CleanExi HS_GABRB1.
Genevestigatori P18505.

Family and domain databases

Gene3Di 2.70.170.10. 1 hit.
InterProi IPR006028. GABAA/Glycine_rcpt.
IPR002289. GABAAb_rcpt.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view ]
PANTHERi PTHR18945. PTHR18945. 1 hit.
Pfami PF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view ]
PRINTSi PR01160. GABAARBETA.
PR00253. GABAARECEPTR.
PR00252. NRIONCHANNEL.
SUPFAMi SSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsi TIGR00860. LIC. 1 hit.
PROSITEi PS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits."
    Schofield P.R., Pritchett D.B., Sontheimer H., Kettenmann H., Seeburg P.H.
    FEBS Lett. 244:361-364(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Isolation, characterization, and localization of human genomic DNA encoding the beta 1 subunit of the GABAA receptor (GABRB1)."
    Kirkness E.F., Kusiak J.W., Fleming J.T., Menninger J., Gocayne J.D., Ward D.C., Venter J.C.
    Genomics 10:985-995(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism."
    Corominas R., Yang X., Lin G.N., Kang S., Shen Y., Ghamsari L., Broly M., Rodriguez M., Tam S., Wanamaker S.A., Fan C., Yi S., Tasan M., Lemmens I., Kuang X., Zhao N., Malhotra D., Michaelson J.J.
    , Vacic V., Calderwood M.A., Roth F.P., Tavernier J., Horvath S., Salehi-Ashtiani K., Korkin D., Sebat J., Hill D.E., Hao T., Vidal M., Iakoucheva L.M.
    Nat. Commun. 5:3650-3650(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Fetal brain.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  5. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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] (ISOFORM 1), VARIANT ASN-429.
    Tissue: Brain.
  8. "Differential expression of gamma-aminobutyric acidA receptor subunits."
    Garrett K.M., Saito N., Duman R.S., Abel M.S., Ashton R.A., Fujimori S., Beer B., Tallman J.F., Vitek M.P., Blume A.J.
    Mol. Pharmacol. 37:652-657(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 19-474 (ISOFORM 1).
  9. "Search for mutations in the beta 1 GABAA receptor subunit gene in patients with schizophrenia."
    Coon H., Sobell J., Heston L., Sommer S., Hoff M., Holik J., Umar F., Robertson M., Reimherr F., Wender P.
    Am. J. Med. Genet. 54:12-20(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 404-434 (ISOFORM 1), VARIANT GLN-421.

Entry informationi

Entry nameiGBRB1_HUMAN
AccessioniPrimary (citable) accession number: P18505
Secondary accession number(s): B2R6U7
, D6REL3, Q16166, Q8TBK3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: October 10, 2002
Last modified: September 3, 2014
This is version 154 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, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: 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. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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