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BPI fold-containing family B member 1 (Long palate, lung and nasal epithelium carcinoma-associated protein 1) (von Ebner minor salivary gland protein) (VEMSGP)

 BPIB1_HUMAN             Reviewed;         484 AA.
Q8TDL5; A8K2H8; Q5QP43; Q6UWY1; Q6ZRU7; Q96HK6; Q9BQP8; Q9BWZ6;
Q9H4V6;
29-AUG-2003, integrated into UniProtKB/Swiss-Prot.
01-JUN-2002, sequence version 1.
28-FEB-2018, entry version 130.
RecName: Full=BPI fold-containing family B member 1;
AltName: Full=Long palate, lung and nasal epithelium carcinoma-associated protein 1;
AltName: Full=von Ebner minor salivary gland protein;
Short=VEMSGP;
Flags: Precursor;
Name=BPIFB1; Synonyms=C20orf114, LPLUNC1; ORFNames=UNQ706/PRO1357;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Lung, Nasal epithelium, and Submandibular gland;
PubMed=11971875; DOI=10.1093/hmg/11.8.937;
Bingle C.D., Craven C.J.;
"PLUNC: a novel family of candidate host defence proteins expressed in
the upper airways and nasopharynx.";
Hum. Mol. Genet. 11:937-943(2002).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
PubMed=12975309; DOI=10.1101/gr.1293003;
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S.,
Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J.,
Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J.,
Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A.,
Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H.,
Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D.,
Wood W.I., Godowski P.J., Gray A.M.;
"The secreted protein discovery initiative (SPDI), a large-scale
effort to identify novel human secreted and transmembrane proteins: a
bioinformatics assessment.";
Genome Res. 13:2265-2270(2003).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
THR-479.
TISSUE=Cervix, and Testis;
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=11780052; DOI=10.1038/414865a;
Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M.,
Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J.,
Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P.,
Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M.,
Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R.,
Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M.,
Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H.,
Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S.,
Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E.,
Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A.,
Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M.,
Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A.,
Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S.,
Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 20.";
Nature 414:865-871(2001).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS
VAL-84; SER-464 AND THR-479.
TISSUE=Skeletal muscle;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
LIPOPOLYSACCHARIDE-BINDING, TISSUE SPECIFICITY, AND FUNCTION.
PubMed=21900486; DOI=10.1093/infdis/jir544;
Shin O.S., Uddin T., Citorik R., Wang J.P., Della Pelle P.,
Kradin R.L., Bingle C.D., Bingle L., Camilli A., Bhuiyan T.R.,
Shirin T., Ryan E.T., Calderwood S.B., Finberg R.W., Qadri F.,
Larocque R.C., Harris J.B.;
"LPLUNC1 modulates innate immune responses to Vibrio cholerae.";
J. Infect. Dis. 204:1349-1357(2011).
-!- FUNCTION: May play a role in innate immunity in mouth, nose and
lungs. Binds bacterial lipopolysaccharide (LPS) and modulates the
cellular responses to LPS. {ECO:0000269|PubMed:21900486}.
-!- SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q8TDL5-1; Sequence=Displayed;
Name=2;
IsoId=Q8TDL5-2; Sequence=VSP_015285, VSP_015286, VSP_015287,
VSP_015288;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Detected in duodenum mucosal crypts of cholera
patients, near Paneth cells (at protein level). Detected in
trachea, nasal septal epithelium and lung.
{ECO:0000269|PubMed:21900486}.
-!- SIMILARITY: Belongs to the BPI/LBP/Plunc superfamily. Plunc
family. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; AF364078; AAM00283.1; -; mRNA.
EMBL; AY358595; AAQ88958.1; -; mRNA.
EMBL; AK127971; BAC87212.1; -; mRNA.
EMBL; AK290243; BAF82932.1; -; mRNA.
EMBL; AL121901; CAI14743.1; -; Genomic_DNA.
EMBL; AL355392; CAI14743.1; JOINED; Genomic_DNA.
EMBL; AL355392; CAI19398.1; -; Genomic_DNA.
EMBL; AL121901; CAI19398.1; JOINED; Genomic_DNA.
EMBL; BC008429; AAH08429.1; -; mRNA.
CCDS; CCDS13218.1; -. [Q8TDL5-1]
RefSeq; NP_149974.2; NM_033197.2. [Q8TDL5-1]
UniGene; Hs.65551; -.
ProteinModelPortal; Q8TDL5; -.
BioGrid; 124975; 17.
IntAct; Q8TDL5; 2.
MINT; Q8TDL5; -.
STRING; 9606.ENSP00000253354; -.
iPTMnet; Q8TDL5; -.
PhosphoSitePlus; Q8TDL5; -.
BioMuta; BPIFB1; -.
DMDM; 34395685; -.
PaxDb; Q8TDL5; -.
PeptideAtlas; Q8TDL5; -.
PRIDE; Q8TDL5; -.
TopDownProteomics; Q8TDL5-1; -. [Q8TDL5-1]
DNASU; 92747; -.
Ensembl; ENST00000253354; ENSP00000253354; ENSG00000125999. [Q8TDL5-1]
GeneID; 92747; -.
KEGG; hsa:92747; -.
UCSC; uc002wyw.1; human. [Q8TDL5-1]
CTD; 92747; -.
DisGeNET; 92747; -.
EuPathDB; HostDB:ENSG00000125999.10; -.
GeneCards; BPIFB1; -.
HGNC; HGNC:16108; BPIFB1.
HPA; HPA024256; -.
neXtProt; NX_Q8TDL5; -.
OpenTargets; ENSG00000125999; -.
PharmGKB; PA25654; -.
eggNOG; KOG4160; Eukaryota.
eggNOG; ENOG410Z88E; LUCA.
GeneTree; ENSGT00840000130012; -.
HOVERGEN; HBG052339; -.
InParanoid; Q8TDL5; -.
OMA; KNQLCPV; -.
OrthoDB; EOG091G0CAE; -.
PhylomeDB; Q8TDL5; -.
TreeFam; TF338541; -.
Reactome; R-HSA-6803157; Antimicrobial peptides.
ChiTaRS; BPIFB1; human.
GenomeRNAi; 92747; -.
PRO; PR:Q8TDL5; -.
Proteomes; UP000005640; Chromosome 20.
Bgee; ENSG00000125999; -.
CleanEx; HS_C20orf114; -.
ExpressionAtlas; Q8TDL5; baseline and differential.
Genevisible; Q8TDL5; HS.
GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
GO; GO:0005576; C:extracellular region; IDA:UniProtKB.
GO; GO:0008289; F:lipid binding; IEA:InterPro.
GO; GO:0019730; P:antimicrobial humoral response; TAS:Reactome.
GO; GO:0002227; P:innate immune response in mucosa; IDA:UniProtKB.
GO; GO:0034144; P:negative regulation of toll-like receptor 4 signaling pathway; IDA:UniProtKB.
InterPro; IPR017943; Bactericidal_perm-incr_a/b_dom.
InterPro; IPR032942; BPI/LBP/Plunc.
InterPro; IPR021193; Bpifb1.
InterPro; IPR001124; Lipid-bd_serum_glycop_C.
InterPro; IPR017942; Lipid-bd_serum_glycop_N.
PANTHER; PTHR10504; PTHR10504; 1.
Pfam; PF01273; LBP_BPI_CETP; 1.
Pfam; PF02886; LBP_BPI_CETP_C; 1.
PIRSF; PIRSF037186; PLUNC_long_form; 1.
SMART; SM00328; BPI1; 1.
SUPFAM; SSF55394; SSF55394; 2.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Disulfide bond; Glycoprotein;
Immunity; Innate immunity; Polymorphism; Reference proteome; Secreted;
Signal.
SIGNAL 1 21 {ECO:0000255}.
CHAIN 22 484 BPI fold-containing family B member 1.
/FTId=PRO_0000017180.
CARBOHYD 48 48 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 264 264 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 401 401 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 158 201 {ECO:0000250}.
VAR_SEQ 1 169 Missing (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_015285.
VAR_SEQ 170 220 LHKLSFLVNALAKQVMNLLVPSLPNLVKNQLCPVIEASFNG
MYADLLQLVK -> MCCPGGHYTLILRRGNRFRREKRPAKV
TGAQTEVQLAPPLPRGRARRSPWS (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_015286.
VAR_SEQ 328 329 AA -> LQ (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_015287.
VAR_SEQ 330 484 Missing (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_015288.
VARIANT 84 84 I -> V (in dbSNP:rs1078761).
{ECO:0000269|PubMed:15489334}.
/FTId=VAR_016756.
VARIANT 140 140 T -> A (in dbSNP:rs34578060).
/FTId=VAR_049747.
VARIANT 284 284 V -> M (in dbSNP:rs6141383).
/FTId=VAR_049748.
VARIANT 287 287 D -> H (in dbSNP:rs34548457).
/FTId=VAR_049749.
VARIANT 298 298 S -> P (in dbSNP:rs6120221).
/FTId=VAR_023361.
VARIANT 313 313 S -> I (in dbSNP:rs6120222).
/FTId=VAR_023362.
VARIANT 464 464 T -> S (in dbSNP:rs17856249).
{ECO:0000269|PubMed:15489334}.
/FTId=VAR_049750.
VARIANT 479 479 S -> T (in dbSNP:rs1999663).
{ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:15489334}.
/FTId=VAR_016757.
CONFLICT 171 171 H -> Y (in Ref. 2; AAQ88958).
{ECO:0000305}.
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


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