BPIFC_HUMAN
ID BPIFC_HUMAN Reviewed; 507 AA.
AC Q8NFQ6; A2RRF1;
DT 29-AUG-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=BPI fold-containing family C protein;
DE AltName: Full=Bactericidal/permeability-increasing protein-like 2;
DE Short=BPI-like 2;
DE Flags: Precursor;
GN Name=BPIFC; Synonyms=BPIL2;
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=Fetal skin;
RX PubMed=12185532; DOI=10.1007/s00251-002-0467-3;
RA Mulero J.J., Boyle B.J., Bradley S., Bright J.M., Nelken S.T., Ho T.T.,
RA Mize N.K., Childs J.D., Ballinger D.G., Ford J.E., Rupp F.;
RT "Three new human members of the lipid transfer/lipopolysaccharide binding
RT protein family (LT/LBP).";
RL Immunogenetics 54:293-300(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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).
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NFQ6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NFQ6-2; Sequence=VSP_056033, VSP_056034;
CC -!- TISSUE SPECIFICITY: Detected in the basal layer of the epidermis from
CC inflammatory skin from psoriasis patients, but not in normal skin.
CC -!- SIMILARITY: Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family.
CC {ECO:0000305}.
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DR EMBL; AF465766; AAM73984.1; -; mRNA.
DR EMBL; AL021937; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC131582; AAI31583.1; -; mRNA.
DR CCDS; CCDS13906.1; -. [Q8NFQ6-1]
DR RefSeq; NP_777592.1; NM_174932.2. [Q8NFQ6-1]
DR RefSeq; XP_011528390.1; XM_011530088.2. [Q8NFQ6-1]
DR RefSeq; XP_011528391.1; XM_011530089.1. [Q8NFQ6-1]
DR RefSeq; XP_011528392.1; XM_011530090.1. [Q8NFQ6-1]
DR AlphaFoldDB; Q8NFQ6; -.
DR SMR; Q8NFQ6; -.
DR BioGRID; 129024; 3.
DR STRING; 9606.ENSP00000380594; -.
DR GlyGen; Q8NFQ6; 10 sites.
DR iPTMnet; Q8NFQ6; -.
DR PhosphoSitePlus; Q8NFQ6; -.
DR BioMuta; BPIFC; -.
DR DMDM; 34395538; -.
DR jPOST; Q8NFQ6; -.
DR MassIVE; Q8NFQ6; -.
DR PaxDb; Q8NFQ6; -.
DR PeptideAtlas; Q8NFQ6; -.
DR PRIDE; Q8NFQ6; -.
DR ProteomicsDB; 465; -.
DR ProteomicsDB; 73336; -. [Q8NFQ6-1]
DR Antibodypedia; 45522; 57 antibodies from 10 providers.
DR DNASU; 254240; -.
DR Ensembl; ENST00000300399.9; ENSP00000300399.3; ENSG00000184459.10. [Q8NFQ6-1]
DR Ensembl; ENST00000397452.5; ENSP00000380594.1; ENSG00000184459.10. [Q8NFQ6-1]
DR GeneID; 254240; -.
DR KEGG; hsa:254240; -.
DR MANE-Select; ENST00000300399.9; ENSP00000300399.3; NM_174932.3; NP_777592.1.
DR UCSC; uc003amn.2; human. [Q8NFQ6-1]
DR CTD; 254240; -.
DR DisGeNET; 254240; -.
DR GeneCards; BPIFC; -.
DR HGNC; HGNC:16503; BPIFC.
DR HPA; ENSG00000184459; Tissue enriched (skin).
DR MIM; 614109; gene.
DR neXtProt; NX_Q8NFQ6; -.
DR OpenTargets; ENSG00000184459; -.
DR PharmGKB; PA25405; -.
DR VEuPathDB; HostDB:ENSG00000184459; -.
DR eggNOG; KOG4160; Eukaryota.
DR GeneTree; ENSGT01020000230353; -.
DR HOGENOM; CLU_028970_3_0_1; -.
DR InParanoid; Q8NFQ6; -.
DR OMA; TEPPMIN; -.
DR OrthoDB; 1242894at2759; -.
DR PhylomeDB; Q8NFQ6; -.
DR TreeFam; TF315617; -.
DR PathwayCommons; Q8NFQ6; -.
DR BioGRID-ORCS; 254240; 16 hits in 1067 CRISPR screens.
DR ChiTaRS; BPIFC; human.
DR GenomeRNAi; 254240; -.
DR Pharos; Q8NFQ6; Tdark.
DR PRO; PR:Q8NFQ6; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q8NFQ6; protein.
DR Bgee; ENSG00000184459; Expressed in upper leg skin and 57 other tissues.
DR ExpressionAtlas; Q8NFQ6; baseline and differential.
DR Genevisible; Q8NFQ6; HS.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0001530; F:lipopolysaccharide binding; NAS:UniProtKB.
DR GO; GO:0005543; F:phospholipid binding; NAS:UniProtKB.
DR InterPro; IPR017943; Bactericidal_perm-incr_a/b_dom.
DR InterPro; IPR030675; BPI/LBP.
DR InterPro; IPR032942; BPI/LBP/Plunc.
DR InterPro; IPR032950; BPIFC.
DR InterPro; IPR001124; Lipid-bd_serum_glycop_C.
DR InterPro; IPR017954; Lipid-bd_serum_glycop_CS.
DR InterPro; IPR017942; Lipid-bd_serum_glycop_N.
DR PANTHER; PTHR10504; PTHR10504; 1.
DR PANTHER; PTHR10504:SF17; PTHR10504:SF17; 1.
DR Pfam; PF01273; LBP_BPI_CETP; 1.
DR Pfam; PF02886; LBP_BPI_CETP_C; 1.
DR PIRSF; PIRSF002417; Lipid_binding_protein; 1.
DR SMART; SM00328; BPI1; 1.
DR SMART; SM00329; BPI2; 1.
DR SUPFAM; SSF55394; SSF55394; 2.
DR PROSITE; PS00400; LBP_BPI_CETP; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Disulfide bond; Glycoprotein; Reference proteome;
KW Secreted; Signal.
FT SIGNAL 1..23
FT /evidence="ECO:0000255"
FT CHAIN 24..507
FT /note="BPI fold-containing family C protein"
FT /id="PRO_0000017166"
FT CARBOHYD 79
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 92
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 113
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 213
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 225
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 257
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 301
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 355
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 372
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 415
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 161..200
FT /evidence="ECO:0000250"
FT VAR_SEQ 1..186
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056033"
FT VAR_SEQ 327..383
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056034"
FT VARIANT 269
FT /note="V -> A (in dbSNP:rs2076051)"
FT /id="VAR_024516"
FT VARIANT 302
FT /note="V -> L (in dbSNP:rs5994570)"
FT /id="VAR_033631"
FT VARIANT 451
FT /note="S -> P (in dbSNP:rs5998478)"
FT /id="VAR_024517"
FT VARIANT 479
FT /note="E -> A (in dbSNP:rs35856742)"
FT /id="VAR_049741"
SQ SEQUENCE 507 AA; 56469 MW; CA5285C625AC06E2 CRC64;
MCTKTIPVLW GCFLLWNLYV SSSQTIYPGI KARITQRALD YGVQAGMKMI EQMLKEKKLP
DLSGSESLEF LKVDYVNYNF SNIKISAFSF PNTSLAFVPG VGIKALTNHG TANISTDWGF
ESPLFQDTGG ADLFLSGVYF TGIIILTRND FGHPTLKLQD CYAQLSHAHV SFSGELSVLY
NSFAEPMEKP ILKNLNEMLC PIIASEVKAL NANLSTLEVL TKIDNYTLLD YSLISSPEIT
ENYLDLNLKG VFYPLENLTD PPFSPVPFVL PERSNSMLYI GIAEYFFKSA SFAHFTAGVF
NVTLSTEEIS NHFVQNSQGL GNVLSRIAEI YILSQPFMVR IMATEPPIIN LQPGNFTLDI
PASIMMLTQP KNSTVETIVS MDFVASTSVG LVILGQRLVC SLSLNRFRLA LPESNRSNIE
VLRFENILSS ILHFGVLPLA NAKLQQGFPL SNPHKFLFVN SDIEVLEGFL LISTDLKYET
SSKQQPSFHV WEGLNLISRQ WRGKSAP
