2024-04-24 17:26:00, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_005018 2115 bp mRNA linear PRI 01-JUL-2013 DEFINITION Homo sapiens programmed cell death 1 (PDCD1), mRNA. ACCESSION NM_005018 VERSION NM_005018.2 GI:167857791 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2115) AUTHORS Cheng,X., Veverka,V., Radhakrishnan,A., Waters,L.C., Muskett,F.W., Morgan,S.H., Huo,J., Yu,C., Evans,E.J., Leslie,A.J., Griffiths,M., Stubberfield,C., Griffin,R., Henry,A.J., Jansson,A., Ladbury,J.E., Ikemizu,S., Carr,M.D. and Davis,S.J. TITLE Structure and interactions of the human programmed cell death 1 receptor JOURNAL J. Biol. Chem. 288 (17), 11771-11785 (2013) PUBMED 23417675 REMARK GeneRIF: These findings provide a rigorous structural and biophysical framework for interpreting the important functions of PD-1 and reveal that potent inhibitory signaling can be initiated by weakly interacting receptors. REFERENCE 2 (bases 1 to 2115) AUTHORS Takahashi,H., Tomita,N., Sakata,S., Tsuyama,N., Hashimoto,C., Ohshima,R., Matsuura,S., Ogawa,K., Yamamoto,W., Kameda,Y., Enaka,M., Inayama,Y., Kasahara,M., Takekawa,Y., Onoda,N., Motomura,S., Ishigatsubo,Y. and Takeuchi,K. TITLE Prognostic significance of programmed cell death-1-positive cells in follicular lymphoma patients may alter in the rituximab era JOURNAL Eur. J. Haematol. 90 (4), 286-290 (2013) PUBMED 23331211 REMARK GeneRIF: PD-1 positivity was significantly higher in male follicular lymphoma patients and patients with high beta-2 microglobulin REFERENCE 3 (bases 1 to 2115) AUTHORS Kataoka,T.R., Fujimoto,M., Moriyoshi,K., Koyanagi,I., Ueshima,C., Kono,F., Tsuruyama,T., Okayama,Y., Ra,C. and Haga,H. TITLE PD-1 regulates the growth of human mastocytosis cells JOURNAL Allergol Int 62 (1), 99-104 (2013) PUBMED 23267208 REMARK GeneRIF: PD-1 could be a marker for human cutaneous mastocytosis and regulate the growth of human PD-1-positive mastocytosis cells. REFERENCE 4 (bases 1 to 2115) AUTHORS Myklebust,J.H., Irish,J.M., Brody,J., Czerwinski,D.K., Houot,R., Kohrt,H.E., Timmerman,J., Said,J., Green,M.R., Delabie,J., Kolstad,A., Alizadeh,A.A. and Levy,R. TITLE High PD-1 expression and suppressed cytokine signaling distinguish T cells infiltrating follicular lymphoma tumors from peripheral T cells JOURNAL Blood 121 (8), 1367-1376 (2013) PUBMED 23297127 REMARK GeneRIF: Disruption of the microenvironment and in vitro culture of follicular lymphoma tumor infiltrating T cells could restore cytokine signaling in the PD-1(hi) subset. REFERENCE 5 (bases 1 to 2115) AUTHORS Palmer,B.E., Neff,C.P., Lecureux,J., Ehler,A., Dsouza,M., Remling-Mulder,L., Korman,A.J., Fontenot,A.P. and Akkina,R. TITLE In vivo blockade of the PD-1 receptor suppresses HIV-1 viral loads and improves CD4+ T cell levels in humanized mice JOURNAL J. Immunol. 190 (1), 211-219 (2013) PUBMED 23209326 REMARK GeneRIF: Blockade of the PD-1 pathway reduces human immunodeficiency virus (HIV)-1 viral loads. REFERENCE 6 (bases 1 to 2115) AUTHORS Iwai,Y., Okazaki,T., Nishimura,H., Kawasaki,A., Yagita,H. and Honjo,T. TITLE Microanatomical localization of PD-1 in human tonsils JOURNAL Immunol. Lett. 83 (3), 215-220 (2002) PUBMED 12095712 REMARK GeneRIF: PD-1 may play an important role in germinal center reactions REFERENCE 7 (bases 1 to 2115) AUTHORS Finger,L.R., Pu,J., Wasserman,R., Vibhakar,R., Louie,E., Hardy,R.R., Burrows,P.D. and Billips,L.G. TITLE The human PD-1 gene: complete cDNA, genomic organization, and developmentally regulated expression in B cell progenitors JOURNAL Gene 197 (1-2), 177-187 (1997) PUBMED 9332365 REMARK Erratum:[Gene 1997 Dec 12;203(2):253] REFERENCE 8 (bases 1 to 2115) AUTHORS Vibhakar,R., Juan,G., Traganos,F., Darzynkiewicz,Z. and Finger,L.R. TITLE Activation-induced expression of human programmed death-1 gene in T-lymphocytes JOURNAL Exp. Cell Res. 232 (1), 25-28 (1997) PUBMED 9141617 REFERENCE 9 (bases 1 to 2115) AUTHORS Shinohara,T., Taniwaki,M., Ishida,Y., Kawaichi,M. and Honjo,T. TITLE Structure and chromosomal localization of the human PD-1 gene (PDCD1) JOURNAL Genomics 23 (3), 704-706 (1994) PUBMED 7851902 REFERENCE 10 (bases 1 to 2115) AUTHORS Ishida,Y., Agata,Y., Shibahara,K. and Honjo,T. TITLE Induced expression of PD-1, a novel member of the immunoglobulin gene superfamily, upon programmed cell death JOURNAL EMBO J. 11 (11), 3887-3895 (1992) PUBMED 1396582 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from U64863.1, AY238517.1, CR988122.1 and AI928135.1. This sequence is a reference standard in the RefSeqGene project. On Feb 14, 2008 this sequence version replaced gi:4826889. Summary: This gene encodes a cell surface membrane protein of the immunoglobulin superfamily. This protein is expressed in pro-B-cells and is thought to play a role in their differentiation. In mice, expression of this gene is induced in the thymus when anti-CD3 antibodies are injected and large numbers of thymocytes undergo apoptosis. Mice deficient for this gene bred on a BALB/c background developed dilated cardiomyopathy and died from congestive heart failure. These studies suggest that this gene product may also be important in T cell function and contribute to the prevention of autoimmune diseases. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U64863.1, BC074740.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025084, ERS025086 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: full length. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-68 U64863.1 1-68 69-935 AY238517.1 1-867 936-1549 U64863.1 936-1549 1550-1644 U64863.1 1551-1645 1645-2011 CR988122.1 113-479 2012-2107 U64863.1 2011-2106 2108-2115 AI928135.1 1-8 c FEATURES Location/Qualifiers source 1..2115 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2q37.3" gene 1..2115 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /note="programmed cell death 1" /db_xref="GeneID:5133" /db_xref="HGNC:8760" /db_xref="MIM:600244" exon 1..144 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /inference="alignment:Splign:1.39.8" STS 4..1544 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /db_xref="UniSTS:482776" STS 19..985 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /db_xref="UniSTS:480687" STS 23..970 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /db_xref="UniSTS:481888" variation 67 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="a" /replace="g" /db_xref="dbSNP:55970948" CDS 69..935 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /note="programmed cell death protein 1; protein PD-1" /codon_start=1 /product="programmed cell death protein 1 precursor" /protein_id="NP_005009.2" /db_xref="GI:167857792" /db_xref="CCDS:CCDS33428.1" /db_xref="GeneID:5133" /db_xref="HGNC:8760" /db_xref="MIM:600244" /translation="
MQIPQAPWPVVWAVLQLGWRPGWFLDSPDRPWNPPTFSPALLVVTEGDNATFTCSFSNTSESFVLNWYRMSPSNQTDKLAAFPEDRSQPGQDCRFRVTQLPNGRDFHMSVVRARRNDSGTYLCGAISLAPKAQIKESLRAELRVTERRAEVPTAHPSPSPRPAGQFQTLVVGVVGGLLGSLVLLVWVLAVICSRAARGTIGARRTGQPLKEDPSAVPVFSVDYGELDFQWREKTPEPPVPCVPEQTEYATIVFPSGMGTSSPARRGSADGPRSAQPLRPEDGHCSWPL
" sig_peptide 69..128 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" mat_peptide 129..932 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /product="programmed cell death protein 1" misc_feature 192..476 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /note="Immunoglobulin variable domain (IgV); Region: IgV; cd00099" /db_xref="CDD:143167" misc_feature 213..437 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /note="Immunoglobulin V-Type; Region: IGv; smart00406" /db_xref="CDD:197704" misc_feature order(234..236,255..257) /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /note="L1 hypervariable region; other site" /db_xref="CDD:143167" misc_feature order(255..260,264..266,447..449) /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /note="antigen binding site; other site" /db_xref="CDD:143167" misc_feature order(258..260,264..266,270..272,276..278,294..296, 300..302,426..428,432..434,441..443) /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /note="heterodimer interface [polypeptide binding]; other site" /db_xref="CDD:143167" misc_feature 381..383 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /note="L2 hypervariable region; other site" /db_xref="CDD:143167" misc_feature order(447..449,474..476) /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /note="L3 hypervariable region; other site" /db_xref="CDD:143167" misc_feature 579..641 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q15116.3); transmembrane region" exon 145..504 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /inference="alignment:Splign:1.39.8" variation 151 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="c" /replace="t" /db_xref="dbSNP:56234260" variation 173 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="c" /replace="g" /db_xref="dbSNP:41444844" variation 233 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="c" /replace="t" /db_xref="dbSNP:55993679" variation 265 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="a" /replace="c" /db_xref="dbSNP:28615468" variation 317 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="c" /replace="t" /db_xref="dbSNP:55804130" variation 374 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="c" /replace="t" /db_xref="dbSNP:55637807" variation 375 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="a" /replace="g" /db_xref="dbSNP:56124337" variation 409 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="a" /replace="g" /db_xref="dbSNP:55679128" variation 464 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="a" /replace="g" /db_xref="dbSNP:41400345" exon 505..660 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /inference="alignment:Splign:1.39.8" variation 600 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="c" /replace="t" /db_xref="dbSNP:55667829" exon 661..695 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /inference="alignment:Splign:1.39.8" exon 696..2112 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /inference="alignment:Splign:1.39.8" STS 711..836 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /standard_name="RH71365" /db_xref="UniSTS:48877" variation 712 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="c" /replace="t" /db_xref="dbSNP:2227982" variation 872 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="c" /replace="t" /db_xref="dbSNP:2227981" variation 1061 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="" /replace="g" /db_xref="dbSNP:56111033" variation 1134 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="a" /replace="g" /db_xref="dbSNP:6749527" variation 1267..1269 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="" /replace="tgc" /db_xref="dbSNP:56029561" variation 1269..1270 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="" /replace="tgc" /db_xref="dbSNP:56346736" variation 1274 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="a" /replace="g" /db_xref="dbSNP:55844488" variation 1290 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="c" /replace="t" /db_xref="dbSNP:41476248" variation 1294 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="a" /replace="g" /db_xref="dbSNP:6605259" variation 1314 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="a" /replace="g" /db_xref="dbSNP:41492945" variation 1373 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="c" /replace="t" /db_xref="dbSNP:55721013" variation 1391 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="a" /replace="g" /db_xref="dbSNP:55869797" variation 1396 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="a" /replace="g" /db_xref="dbSNP:41414450" variation 1397 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="c" /replace="t" /db_xref="dbSNP:6605260" variation 1405 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="a" /replace="g" /db_xref="dbSNP:55824589" STS 1485..2110 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /standard_name="PDCD1_1679" /db_xref="UniSTS:462388" variation 1555 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="a" /replace="t" /db_xref="dbSNP:41465046" variation 1698 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="c" /replace="t" /db_xref="dbSNP:41428445" variation 1747 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="a" /replace="g" /db_xref="dbSNP:55676463" variation 1800 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="c" /replace="g" /db_xref="dbSNP:56364125" variation 1824 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="a" /replace="g" /db_xref="dbSNP:10204525" variation 1853 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="c" /replace="t" /db_xref="dbSNP:56015708" variation 1883 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="c" /replace="t" /db_xref="dbSNP:55704165" variation 1891 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="a" /replace="c" /db_xref="dbSNP:55942126" variation 1920 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" /replace="a" /replace="g" /db_xref="dbSNP:41379345" polyA_signal 2088..2093 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" polyA_site 2112 /gene="PDCD1" /gene_synonym="CD279; hPD-1; hPD-l; PD-1; PD1; SLEB2" ORIGIN
agtttcccttccgctcacctccgcctgagcagtggagaaggcggcactctggtggggctgctccaggcatgcagatcccacaggcgccctggccagtcgtctgggcggtgctacaactgggctggcggccaggatggttcttagactccccagacaggccctggaacccccccaccttctccccagccctgctcgtggtgaccgaaggggacaacgccaccttcacctgcagcttctccaacacatcggagagcttcgtgctaaactggtaccgcatgagccccagcaaccagacggacaagctggccgccttccccgaggaccgcagccagcccggccaggactgccgcttccgtgtcacacaactgcccaacgggcgtgacttccacatgagcgtggtcagggcccggcgcaatgacagcggcacctacctctgtggggccatctccctggcccccaaggcgcagatcaaagagagcctgcgggcagagctcagggtgacagagagaagggcagaagtgcccacagcccaccccagcccctcacccaggccagccggccagttccaaaccctggtggttggtgtcgtgggcggcctgctgggcagcctggtgctgctagtctgggtcctggccgtcatctgctcccgggccgcacgagggacaataggagccaggcgcaccggccagcccctgaaggaggacccctcagccgtgcctgtgttctctgtggactatggggagctggatttccagtggcgagagaagaccccggagccccccgtgccctgtgtccctgagcagacggagtatgccaccattgtctttcctagcggaatgggcacctcatcccccgcccgcaggggctcagctgacggccctcggagtgcccagccactgaggcctgaggatggacactgctcttggcccctctgaccggcttccttggccaccagtgttctgcagaccctccaccatgagcccgggtcagcgcatttcctcaggagaagcaggcagggtgcaggccattgcaggccgtccaggggctgagctgcctgggggcgaccggggctccagcctgcacctgcaccaggcacagccccaccacaggactcatgtctcaatgcccacagtgagcccaggcagcaggtgtcaccgtcccctacagggagggccagatgcagtcactgcttcaggtcctgccagcacagagctgcctgcgtccagctccctgaatctctgctgctgctgctgctgctgctgctgctgcctgcggcccggggctgaaggcgccgtggccctgcctgacgccccggagcctcctgcctgaacttgggggctggttggagatggccttggagcagccaaggtgcccctggcagtggcatcccgaaacgccctggacgcagggcccaagactgggcacaggagtgggaggtacatggggctggggactccccaggagttatctgctccctgcaggcctagagaagtttcagggaaggtcagaagagctcctggctgtggtgggcagggcaggaaacccctccacctttacacatgcccaggcagcacctcaggccctttgtggggcagggaagctgaggcagtaagcgggcaggcagagctggaggcctttcaggcccagccagcactctggcctcctgccgccgcattccaccccagcccctcacaccactcgggagagggacatcctacggtcccaaggtcaggagggcagggctggggttgactcaggcccctcccagctgtggccacctgggtgttgggagggcagaagtgcaggcacctagggccccccatgtgcccaccctgggagctctccttggaacccattcctgaaattatttaaaggggttggccgggctcccaccagggcctgggtgggaaggtacaggcgttcccccggggcctagtacccccgccgtggcctatccactcctcacatccacacactgcacccccactcctggggcagggccaccagcatccaggcggccagcaggcacctgagtggctgggacaagggatcccccttccctgtggttctattatattataattataattaaatatgagagcatgctaaggaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:5133 -> Molecular function: GO:0004871 [signal transducer activity] evidence: TAS GeneID:5133 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:5133 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:5133 -> Biological process: GO:0006959 [humoral immune response] evidence: TAS GeneID:5133 -> Biological process: GO:0007165 [signal transduction] evidence: TAS GeneID:5133 -> Biological process: GO:0007275 [multicellular organismal development] evidence: TAS GeneID:5133 -> Biological process: GO:0031295 [T cell costimulation] evidence: TAS GeneID:5133 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS GeneID:5133 -> Cellular component: GO:0009897 [external side of plasma membrane] evidence: IEA GeneID:5133 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
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