BPIB1_HUMAN
ID BPIB1_HUMAN Reviewed; 484 AA.
AC Q8TDL5; A8K2H8; Q5QP43; Q6UWY1; Q6ZRU7; Q96HK6; Q9BQP8; Q9BWZ6; Q9H4V6;
DT 29-AUG-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2002, sequence version 1.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=BPI fold-containing family B member 1;
DE AltName: Full=Long palate, lung and nasal epithelium carcinoma-associated protein 1;
DE AltName: Full=von Ebner minor salivary gland protein;
DE Short=VEMSGP;
DE Flags: Precursor;
GN Name=BPIFB1; Synonyms=C20orf114, LPLUNC1; ORFNames=UNQ706/PRO1357;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Lung, Nasal epithelium, and Submandibular gland;
RX PubMed=11971875; DOI=10.1093/hmg/11.8.937;
RA Bingle C.D., Craven C.J.;
RT "PLUNC: a novel family of candidate host defence proteins expressed in the
RT upper airways and nasopharynx.";
RL Hum. Mol. Genet. 11:937-943(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP THR-479.
RC TISSUE=Cervix, and Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS VAL-84;
RP SER-464 AND THR-479.
RC TISSUE=Skeletal muscle;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP LIPOPOLYSACCHARIDE-BINDING, TISSUE SPECIFICITY, AND FUNCTION.
RX PubMed=21900486; DOI=10.1093/infdis/jir544;
RA Shin O.S., Uddin T., Citorik R., Wang J.P., Della Pelle P., Kradin R.L.,
RA Bingle C.D., Bingle L., Camilli A., Bhuiyan T.R., Shirin T., Ryan E.T.,
RA Calderwood S.B., Finberg R.W., Qadri F., Larocque R.C., Harris J.B.;
RT "LPLUNC1 modulates innate immune responses to Vibrio cholerae.";
RL J. Infect. Dis. 204:1349-1357(2011).
CC -!- FUNCTION: May play a role in innate immunity in mouth, nose and lungs.
CC Binds bacterial lipopolysaccharide (LPS) and modulates the cellular
CC responses to LPS. {ECO:0000269|PubMed:21900486}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8TDL5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8TDL5-2; Sequence=VSP_015285, VSP_015286, VSP_015287,
CC VSP_015288;
CC -!- TISSUE SPECIFICITY: Detected in duodenum mucosal crypts of cholera
CC patients, near Paneth cells (at protein level). Detected in trachea,
CC nasal septal epithelium and lung. {ECO:0000269|PubMed:21900486}.
CC -!- SIMILARITY: Belongs to the BPI/LBP/Plunc superfamily. Plunc family.
CC {ECO:0000305}.
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DR EMBL; AF364078; AAM00283.1; -; mRNA.
DR EMBL; AY358595; AAQ88958.1; -; mRNA.
DR EMBL; AK127971; BAC87212.1; -; mRNA.
DR EMBL; AK290243; BAF82932.1; -; mRNA.
DR EMBL; AL121901; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL355392; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC008429; AAH08429.1; -; mRNA.
DR CCDS; CCDS13218.1; -. [Q8TDL5-1]
DR RefSeq; NP_149974.2; NM_033197.2. [Q8TDL5-1]
DR AlphaFoldDB; Q8TDL5; -.
DR SMR; Q8TDL5; -.
DR BioGRID; 124975; 70.
DR IntAct; Q8TDL5; 15.
DR MINT; Q8TDL5; -.
DR STRING; 9606.ENSP00000253354; -.
DR GlyConnect; 1047; 3 N-Linked glycans (2 sites).
DR GlyGen; Q8TDL5; 3 sites, 2 N-linked glycans (2 sites).
DR iPTMnet; Q8TDL5; -.
DR PhosphoSitePlus; Q8TDL5; -.
DR BioMuta; BPIFB1; -.
DR DMDM; 34395685; -.
DR CPTAC; CPTAC-1490; -.
DR jPOST; Q8TDL5; -.
DR MassIVE; Q8TDL5; -.
DR PaxDb; Q8TDL5; -.
DR PeptideAtlas; Q8TDL5; -.
DR PRIDE; Q8TDL5; -.
DR ProteomicsDB; 74296; -. [Q8TDL5-1]
DR ProteomicsDB; 74297; -. [Q8TDL5-2]
DR TopDownProteomics; Q8TDL5-1; -. [Q8TDL5-1]
DR Antibodypedia; 10629; 192 antibodies from 23 providers.
DR DNASU; 92747; -.
DR Ensembl; ENST00000253354.2; ENSP00000253354.1; ENSG00000125999.11. [Q8TDL5-1]
DR GeneID; 92747; -.
DR KEGG; hsa:92747; -.
DR MANE-Select; ENST00000253354.2; ENSP00000253354.1; NM_033197.3; NP_149974.2.
DR UCSC; uc002wyw.1; human. [Q8TDL5-1]
DR CTD; 92747; -.
DR DisGeNET; 92747; -.
DR GeneCards; BPIFB1; -.
DR HGNC; HGNC:16108; BPIFB1.
DR HPA; ENSG00000125999; Tissue enhanced (cervix, salivary gland, stomach).
DR neXtProt; NX_Q8TDL5; -.
DR OpenTargets; ENSG00000125999; -.
DR PharmGKB; PA25654; -.
DR VEuPathDB; HostDB:ENSG00000125999; -.
DR eggNOG; KOG4160; Eukaryota.
DR GeneTree; ENSGT01020000230460; -.
DR HOGENOM; CLU_050473_0_0_1; -.
DR InParanoid; Q8TDL5; -.
DR OMA; FNDMYAD; -.
DR OrthoDB; 1209764at2759; -.
DR PhylomeDB; Q8TDL5; -.
DR TreeFam; TF338541; -.
DR PathwayCommons; Q8TDL5; -.
DR Reactome; R-HSA-6803157; Antimicrobial peptides.
DR SignaLink; Q8TDL5; -.
DR BioGRID-ORCS; 92747; 10 hits in 1069 CRISPR screens.
DR ChiTaRS; BPIFB1; human.
DR GenomeRNAi; 92747; -.
DR Pharos; Q8TDL5; Tbio.
DR PRO; PR:Q8TDL5; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q8TDL5; protein.
DR Bgee; ENSG00000125999; Expressed in bronchus and 102 other tissues.
DR ExpressionAtlas; Q8TDL5; baseline and differential.
DR Genevisible; Q8TDL5; HS.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0005576; C:extracellular region; IDA:UniProtKB.
DR GO; GO:0008289; F:lipid binding; IEA:InterPro.
DR GO; GO:0002227; P:innate immune response in mucosa; IDA:UniProtKB.
DR GO; GO:0034144; P:negative regulation of toll-like receptor 4 signaling pathway; IDA:UniProtKB.
DR InterPro; IPR017943; Bactericidal_perm-incr_a/b_dom.
DR InterPro; IPR021193; Bpifb1.
DR InterPro; IPR001124; Lipid-bd_serum_glycop_C.
DR InterPro; IPR017942; Lipid-bd_serum_glycop_N.
DR PANTHER; PTHR47395; PTHR47395; 1.
DR Pfam; PF01273; LBP_BPI_CETP; 1.
DR Pfam; PF02886; LBP_BPI_CETP_C; 1.
DR PIRSF; PIRSF037186; PLUNC_long_form; 1.
DR SMART; SM00328; BPI1; 1.
DR SUPFAM; SSF55394; SSF55394; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Disulfide bond; Glycoprotein; Immunity;
KW Innate immunity; Reference proteome; Secreted; Signal.
FT SIGNAL 1..21
FT /evidence="ECO:0000255"
FT CHAIN 22..484
FT /note="BPI fold-containing family B member 1"
FT /id="PRO_0000017180"
FT CARBOHYD 48
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 264
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 401
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 158..201
FT /evidence="ECO:0000250"
FT VAR_SEQ 1..169
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_015285"
FT VAR_SEQ 170..220
FT /note="LHKLSFLVNALAKQVMNLLVPSLPNLVKNQLCPVIEASFNGMYADLLQLVK
FT -> MCCPGGHYTLILRRGNRFRREKRPAKVTGAQTEVQLAPPLPRGRARRSPWS (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_015286"
FT VAR_SEQ 328..329
FT /note="AA -> LQ (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_015287"
FT VAR_SEQ 330..484
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_015288"
FT VARIANT 84
FT /note="I -> V (in dbSNP:rs1078761)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_016756"
FT VARIANT 140
FT /note="T -> A (in dbSNP:rs34578060)"
FT /id="VAR_049747"
FT VARIANT 284
FT /note="V -> M (in dbSNP:rs6141383)"
FT /id="VAR_049748"
FT VARIANT 287
FT /note="D -> H (in dbSNP:rs34548457)"
FT /id="VAR_049749"
FT VARIANT 298
FT /note="S -> P (in dbSNP:rs6120221)"
FT /id="VAR_023361"
FT VARIANT 313
FT /note="S -> I (in dbSNP:rs6120222)"
FT /id="VAR_023362"
FT VARIANT 464
FT /note="T -> S (in dbSNP:rs17856249)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_049750"
FT VARIANT 479
FT /note="S -> T (in dbSNP:rs1999663)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_016757"
FT CONFLICT 171
FT /note="H -> Y (in Ref. 2; AAQ88958)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 484 AA; 52442 MW; A32A85F74D544E81 CRC64;
MAGPWTFTLL CGLLAATLIQ ATLSPTAVLI LGPKVIKEKL TQELKDHNAT SILQQLPLLS
AMREKPAGGI PVLGSLVNTV LKHIIWLKVI TANILQLQVK PSANDQELLV KIPLDMVAGF
NTPLVKTIVE FHMTTEAQAT IRMDTSASGP TRLVLSDCAT SHGSLRIQLL HKLSFLVNAL
AKQVMNLLVP SLPNLVKNQL CPVIEASFNG MYADLLQLVK VPISLSIDRL EFDLLYPAIK
GDTIQLYLGA KLLDSQGKVT KWFNNSAASL TMPTLDNIPF SLIVSQDVVK AAVAAVLSPE
EFMVLLDSVL PESAHRLKSS IGLINEKAAD KLGSTQIVKI LTQDTPEFFI DQGHAKVAQL
IVLEVFPSSE ALRPLFTLGI EASSEAQFYT KGDQLILNLN NISSDRIQLM NSGIGWFQPD
VLKNIITEII HSILLPNQNG KLRSGVPVSL VKALGFEAAE SSLTKDALVL TPASLWKPSS
PVSQ
