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Q8N1M1

- BEST3_HUMAN

UniProt

Q8N1M1 - BEST3_HUMAN

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Protein

Bestrophin-3

Gene
BEST3, VMD2L3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Functioni

Forms calcium-sensitive chloride channels. Permeable to bicarbonate.

GO - Molecular functioni

  1. chloride channel activity Source: UniProtKB-KW

GO - Biological processi

  1. negative regulation of ion transport Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Calcium, Chloride

Enzyme and pathway databases

ReactomeiREACT_160189. Stimuli-sensing channels.

Names & Taxonomyi

Protein namesi
Recommended name:
Bestrophin-3
Alternative name(s):
Vitelliform macular dystrophy 2-like protein 3
Gene namesi
Name:BEST3
Synonyms:VMD2L3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:17105. BEST3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2525Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei26 – 4621Helical; Reviewed predictionAdd
BLAST
Topological domaini47 – 7024Extracellular Reviewed predictionAdd
BLAST
Transmembranei71 – 9121Helical; Reviewed predictionAdd
BLAST
Topological domaini92 – 17887Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei179 – 19921Helical; Reviewed predictionAdd
BLAST
Topological domaini200 – 22829Extracellular Reviewed predictionAdd
BLAST
Intramembranei229 – 24921 Reviewed predictionAdd
BLAST
Topological domaini250 – 27021Extracellular Reviewed predictionAdd
BLAST
Transmembranei271 – 29121Helical; Reviewed predictionAdd
BLAST
Topological domaini292 – 668377Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. chloride channel complex Source: UniProtKB-KW
  2. plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162377503.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 668668Bestrophin-3PRO_0000143121Add
BLAST

Proteomic databases

PaxDbiQ8N1M1.
PRIDEiQ8N1M1.

PTM databases

PhosphoSiteiQ8N1M1.

Expressioni

Tissue specificityi

Present in skeletal muscle and weakly in brain, spinal cord, bone marrow and retina.1 Publication

Gene expression databases

ArrayExpressiQ8N1M1.
BgeeiQ8N1M1.
CleanExiHS_BEST3.
GenevestigatoriQ8N1M1.

Organism-specific databases

HPAiHPA054582.

Structurei

3D structure databases

ProteinModelPortaliQ8N1M1.

Family & Domainsi

Sequence similaritiesi

Belongs to the bestrophin family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG315004.
HOGENOMiHOG000115678.
HOVERGENiHBG080894.
InParanoidiQ8N1M1.
KOiK13880.
OMAiKRFLSAH.
OrthoDBiEOG7N0C43.
PhylomeDBiQ8N1M1.
TreeFamiTF315803.

Family and domain databases

InterProiIPR000615. Bestrophin.
IPR021134. Bestrophin/UPF0187.
[Graphical view]
PANTHERiPTHR10736. PTHR10736. 1 hit.
PfamiPF01062. Bestrophin. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 2 (identifier: Q8N1M1-2) [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

MTVTYSSKVA NATFFGFHRL LLKWRGSIYK LLYREFIVFA VLYTAISLVY    50
RLLLTGVQKR YFEKLSIYCD RYAEQIPVTF VLGFYVTLVV NRWWNQFVNL 100
PWPDRLMFLI SSSVHGSDEH GRLLRRTLMR YVNLTSLLIF RSVSTAVYKR 150
FPTMDHVVEA GFMTTDERKL FNHLKSPHLK YWVPFIWFGN LATKARNEGR 200
IRDSVDLQSL MTEMNRYRSW CSLLFGYDWV GIPLVYTQVV TLAVYTFFFA 250
CLIGRQFLDP TKGYAGHDLD LYIPIFTLLQ FFFYAGWLKV AEQLINPFGE 300
DDDDFETNWC IDRNLQVSLL AVDEMHMSLP KMKKDIYWDD SAARPPYTLA 350
AADYCIPSFL GSTVQMGLSG SDFPDEEWLW DYEKHGHRHS MIRRVKRFLS 400
AHEHPSSPRR RSYRRQTSDS SMFLPRDDLS PARDLLDVPS RNPPRASPTW 450
KKSCFPEGSP TLHFSMGELS TIRETSQTST LQSLTPQSSV RTSPIKMPLV 500
PEVLITAAEA PVPTSGGYHH DSATSILSSE FTGVQPSKTE QQQGPMGSIL 550
SPSEKETPPG GPSPQTVSAS AEENIFNCEE DPGDTFLKRW SLPGFLGSSH 600
TSLGNLSPDP MSSQPALLID TETSSEISGI NIVAGSRVSS DMLYLMENLD 650
TKETDIIELN KETEESPK 668
Length:668
Mass (Da):76,107
Last modified:October 1, 2002 - v1
Checksum:iFDCBD7154C402EA2
GO
Isoform 1 (identifier: Q8N1M1-1) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     368-398: LSGSDFPDEEWLWDYEKHGHRHSMIRRVKRF → KQMPKNEWKMEDIKIPLPQPQFQCAKSDPGG
     399-668: Missing.

Show »
Length:398
Mass (Da):46,570
Checksum:i045DD62330EADD26
GO
Isoform 4 (identifier: Q8N1M1-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-106: Missing.
     161-178: GFMTTDERKLFNHLKSPH → ERTGMKPILPSSFEMQSF
     179-668: Missing.

Show »
Length:72
Mass (Da):8,307
Checksum:iEFC600A37012F005
GO
Isoform 5 (identifier: Q8N1M1-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-162: Missing.
     239-289: Missing.

Note: Gene prediction based on EST data.

Show »
Length:455
Mass (Da):51,028
Checksum:iD52A54DC672B1961
GO
Isoform 6 (identifier: Q8N1M1-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-106: Missing.

Show »
Length:562
Mass (Da):63,378
Checksum:i946A5A0AB6840485
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti43 – 431Y → H.
Corresponds to variant rs1025016 [ dbSNP | Ensembl ].
VAR_048409
Natural varianti622 – 6221E → G.
Corresponds to variant rs17106884 [ dbSNP | Ensembl ].
VAR_048410

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 162162Missing in isoform 5. VSP_046979Add
BLAST
Alternative sequencei1 – 106106Missing in isoform 4 and isoform 6. VSP_008981Add
BLAST
Alternative sequencei161 – 17818GFMTT…LKSPH → ERTGMKPILPSSFEMQSF in isoform 4. VSP_008982Add
BLAST
Alternative sequencei179 – 668490Missing in isoform 4. VSP_008983Add
BLAST
Alternative sequencei239 – 28951Missing in isoform 5. VSP_046980Add
BLAST
Alternative sequencei368 – 39831LSGSD…RVKRF → KQMPKNEWKMEDIKIPLPQP QFQCAKSDPGG in isoform 1. VSP_008977Add
BLAST
Alternative sequencei399 – 668270Missing in isoform 1. VSP_008978Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF440758 mRNA. Translation: AAM76997.1.
AY515706 mRNA. Translation: AAR99656.1.
AK096459 mRNA. Translation: BAC04797.1.
AC016153 Genomic DNA. No translation available.
AC018921 Genomic DNA. No translation available.
AC025263 Genomic DNA. No translation available.
BC151138 mRNA. No translation available.
BC006440 mRNA. Translation: AAH06440.1.
CCDSiCCDS41810.1. [Q8N1M1-5]
CCDS61193.1. [Q8N1M1-1]
CCDS8992.2. [Q8N1M1-2]
RefSeqiNP_001269543.1. NM_001282614.1. [Q8N1M1-1]
NP_001269544.1. NM_001282615.1. [Q8N1M1-4]
NP_001269545.1. NM_001282616.1. [Q8N1M1-4]
NP_116124.2. NM_032735.2. [Q8N1M1-2]
NP_689652.2. NM_152439.3. [Q8N1M1-5]
UniGeneiHs.280782.

Genome annotation databases

EnsembliENST00000266661; ENSP00000266661; ENSG00000127325. [Q8N1M1-4]
ENST00000330891; ENSP00000332413; ENSG00000127325. [Q8N1M1-2]
ENST00000331471; ENSP00000329064; ENSG00000127325. [Q8N1M1-1]
ENST00000393365; ENSP00000377032; ENSG00000127325. [Q8N1M1-4]
ENST00000488961; ENSP00000433213; ENSG00000127325. [Q8N1M1-5]
ENST00000551160; ENSP00000449377; ENSG00000127325. [Q8N1M1-4]
ENST00000553096; ENSP00000449548; ENSG00000127325.
GeneIDi144453.
KEGGihsa:144453.
UCSCiuc001svd.2. human. [Q8N1M1-1]
uc001svg.3. human. [Q8N1M1-2]

Polymorphism databases

DMDMi38503351.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF440758 mRNA. Translation: AAM76997.1 .
AY515706 mRNA. Translation: AAR99656.1 .
AK096459 mRNA. Translation: BAC04797.1 .
AC016153 Genomic DNA. No translation available.
AC018921 Genomic DNA. No translation available.
AC025263 Genomic DNA. No translation available.
BC151138 mRNA. No translation available.
BC006440 mRNA. Translation: AAH06440.1 .
CCDSi CCDS41810.1. [Q8N1M1-5 ]
CCDS61193.1. [Q8N1M1-1 ]
CCDS8992.2. [Q8N1M1-2 ]
RefSeqi NP_001269543.1. NM_001282614.1. [Q8N1M1-1 ]
NP_001269544.1. NM_001282615.1. [Q8N1M1-4 ]
NP_001269545.1. NM_001282616.1. [Q8N1M1-4 ]
NP_116124.2. NM_032735.2. [Q8N1M1-2 ]
NP_689652.2. NM_152439.3. [Q8N1M1-5 ]
UniGenei Hs.280782.

3D structure databases

ProteinModelPortali Q8N1M1.
ModBasei Search...
MobiDBi Search...

PTM databases

PhosphoSitei Q8N1M1.

Polymorphism databases

DMDMi 38503351.

Proteomic databases

PaxDbi Q8N1M1.
PRIDEi Q8N1M1.

Protocols and materials databases

DNASUi 144453.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000266661 ; ENSP00000266661 ; ENSG00000127325 . [Q8N1M1-4 ]
ENST00000330891 ; ENSP00000332413 ; ENSG00000127325 . [Q8N1M1-2 ]
ENST00000331471 ; ENSP00000329064 ; ENSG00000127325 . [Q8N1M1-1 ]
ENST00000393365 ; ENSP00000377032 ; ENSG00000127325 . [Q8N1M1-4 ]
ENST00000488961 ; ENSP00000433213 ; ENSG00000127325 . [Q8N1M1-5 ]
ENST00000551160 ; ENSP00000449377 ; ENSG00000127325 . [Q8N1M1-4 ]
ENST00000553096 ; ENSP00000449548 ; ENSG00000127325 .
GeneIDi 144453.
KEGGi hsa:144453.
UCSCi uc001svd.2. human. [Q8N1M1-1 ]
uc001svg.3. human. [Q8N1M1-2 ]

Organism-specific databases

CTDi 144453.
GeneCardsi GC12M070037.
H-InvDB HIX0010809.
HGNCi HGNC:17105. BEST3.
HPAi HPA054582.
MIMi 607337. gene.
neXtProti NX_Q8N1M1.
PharmGKBi PA162377503.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG315004.
HOGENOMi HOG000115678.
HOVERGENi HBG080894.
InParanoidi Q8N1M1.
KOi K13880.
OMAi KRFLSAH.
OrthoDBi EOG7N0C43.
PhylomeDBi Q8N1M1.
TreeFami TF315803.

Enzyme and pathway databases

Reactomei REACT_160189. Stimuli-sensing channels.

Miscellaneous databases

GenomeRNAii 144453.
NextBioi 84929.
PROi Q8N1M1.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8N1M1.
Bgeei Q8N1M1.
CleanExi HS_BEST3.
Genevestigatori Q8N1M1.

Family and domain databases

InterProi IPR000615. Bestrophin.
IPR021134. Bestrophin/UPF0187.
[Graphical view ]
PANTHERi PTHR10736. PTHR10736. 1 hit.
Pfami PF01062. Bestrophin. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family."
    Stoehr H., Marquardt A., Nanda I., Schmid M., Weber B.H.F.
    Eur. J. Hum. Genet. 10:281-284(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
  2. "Structure-function analysis of the bestrophin family of anion channels."
    Tsunenari T., Sun H., Williams J., Cahill H., Smallwood P., Yau K.-W., Nathans J.
    J. Biol. Chem. 278:41114-41125(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION.
  3. "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 2).
    Tissue: Tongue.
  4. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [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] (ISOFORMS 4 AND 6).
    Tissue: Lymph.

Entry informationi

Entry nameiBEST3_HUMAN
AccessioniPrimary (citable) accession number: Q8N1M1
Secondary accession number(s): B5MDI8
, F8VVZ2, Q53YQ7, Q8N356, Q8NFT9, Q9BR80
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 21, 2003
Last sequence update: October 1, 2002
Last modified: September 3, 2014
This is version 110 of the entry and version 1 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 12
    Human chromosome 12: 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

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