IL40_HUMAN
ID IL40_HUMAN Reviewed; 265 AA.
AC Q6UX52;
DT 23-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 16-MAY-2012, sequence version 2.
DT 03-AUG-2022, entry version 122.
DE RecName: Full=Protein IL-40 {ECO:0000305};
DE AltName: Full=Interleukin-40 {ECO:0000303|PubMed:28978694};
DE Short=IL-40 {ECO:0000303|PubMed:28978694};
DE Flags: Precursor;
GN Name=C17orf99 {ECO:0000312|HGNC:HGNC:34490};
GN Synonyms=IL40 {ECO:0000303|PubMed:28978694}; ORFNames=UNQ464/PRO809;
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 [LARGE SCALE MRNA], AND VARIANT ARG-101.
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP PROTEIN SEQUENCE OF 21-35.
RX PubMed=15340161; DOI=10.1110/ps.04682504;
RA Zhang Z., Henzel W.J.;
RT "Signal peptide prediction based on analysis of experimentally verified
RT cleavage sites.";
RL Protein Sci. 13:2819-2824(2004).
RN [4]
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=28978694; DOI=10.4049/jimmunol.1700534;
RA Catalan-Dibene J., Vazquez M.I., Luu V.P., Nuccio S.P., Karimzadeh A.,
RA Kastenschmidt J.M., Villalta S.A., Ushach I., Pone E.J., Casali P.,
RA Raffatellu M., Burkhardt A.M., Hernandez-Ruiz M., Heller G., Hevezi P.A.,
RA Zlotnik A.;
RT "Identification of IL-40, a novel B cell-associated cytokine.";
RL J. Immunol. 199:3326-3335(2017).
CC -!- FUNCTION: Probable B cell-associated cytokine that plays a role in the
CC regulation of humoral immune responses. Involved in lymphocyte B cell
CC development and immunoglobulin/IgA production.
CC {ECO:0000250|UniProtKB:Q9CX63}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:28978694}.
CC -!- TISSUE SPECIFICITY: Expressed in fetal liver and bone marrow
CC (PubMed:28978694). Expressed in peripheral blood lymphocyte B cells
CC (PubMed:28978694). {ECO:0000269|PubMed:28978694}.
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DR EMBL; AY358510; AAQ88874.1; -; mRNA.
DR EMBL; AC021593; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS54171.1; -.
DR RefSeq; NP_001156547.1; NM_001163075.1.
DR AlphaFoldDB; Q6UX52; -.
DR BioGRID; 936687; 1.
DR STRING; 9606.ENSP00000343493; -.
DR GlyGen; Q6UX52; 2 sites.
DR iPTMnet; Q6UX52; -.
DR PhosphoSitePlus; Q6UX52; -.
DR BioMuta; C17orf99; -.
DR DMDM; 387912830; -.
DR PaxDb; Q6UX52; -.
DR PRIDE; Q6UX52; -.
DR Antibodypedia; 32542; 22 antibodies from 11 providers.
DR DNASU; 100141515; -.
DR Ensembl; ENST00000340363.10; ENSP00000343493.4; ENSG00000187997.12.
DR GeneID; 100141515; -.
DR KEGG; hsa:100141515; -.
DR MANE-Select; ENST00000340363.10; ENSP00000343493.4; NM_001163075.2; NP_001156547.1.
DR UCSC; uc002jus.5; human.
DR CTD; 100141515; -.
DR DisGeNET; 100141515; -.
DR GeneCards; C17orf99; -.
DR HGNC; HGNC:34490; C17orf99.
DR HPA; ENSG00000187997; Tissue enriched (bone).
DR neXtProt; NX_Q6UX52; -.
DR OpenTargets; ENSG00000187997; -.
DR PharmGKB; PA162378601; -.
DR VEuPathDB; HostDB:ENSG00000187997; -.
DR eggNOG; ENOG502SPUE; Eukaryota.
DR GeneTree; ENSGT01050000244988; -.
DR InParanoid; Q6UX52; -.
DR OMA; NSVNVQH; -.
DR OrthoDB; 1252265at2759; -.
DR TreeFam; TF337680; -.
DR PathwayCommons; Q6UX52; -.
DR SignaLink; Q6UX52; -.
DR BioGRID-ORCS; 100141515; 9 hits in 1064 CRISPR screens.
DR ChiTaRS; C17orf99; human.
DR GenomeRNAi; 100141515; -.
DR Pharos; Q6UX52; Tdark.
DR PRO; PR:Q6UX52; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q6UX52; protein.
DR Bgee; ENSG00000187997; Expressed in colonic epithelium and 96 other tissues.
DR ExpressionAtlas; Q6UX52; baseline and differential.
DR Genevisible; Q6UX52; HS.
DR GO; GO:0005615; C:extracellular space; IDA:UniProtKB.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0005125; F:cytokine activity; IEA:UniProtKB-KW.
DR GO; GO:0004888; F:transmembrane signaling receptor activity; IBA:GO_Central.
DR GO; GO:0002250; P:adaptive immune response; IEA:UniProtKB-KW.
DR GO; GO:0007166; P:cell surface receptor signaling pathway; IBA:GO_Central.
DR GO; GO:0002313; P:mature B cell differentiation involved in immune response; ISS:UniProtKB.
DR GO; GO:2000558; P:positive regulation of immunoglobulin production in mucosal tissue; ISS:UniProtKB.
DR GO; GO:0050776; P:regulation of immune response; IBA:GO_Central.
DR InterPro; IPR040878; Ig_C17orf99.
DR Pfam; PF17736; Ig_C17orf99; 2.
PE 1: Evidence at protein level;
KW Adaptive immunity; Cytokine; Direct protein sequencing; Glycoprotein;
KW Immunity; Reference proteome; Secreted; Signal.
FT SIGNAL 1..20
FT /evidence="ECO:0000269|PubMed:15340161"
FT CHAIN 21..265
FT /note="Protein IL-40"
FT /id="PRO_0000272654"
FT CARBOHYD 86
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 132
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 101
FT /note="W -> R (in dbSNP:rs4789017)"
FT /evidence="ECO:0000269|PubMed:12975309"
FT /id="VAR_067466"
SQ SEQUENCE 265 AA; 29091 MW; 0F3EB3BEDD972DC6 CRC64;
MGLPGLFCLA VLAASSFSKA REEEITPVVS IAYKVLEVFP KGRWVLITCC APQPPPPITY
SLCGTKNIKV AKKVVKTHEP ASFNLNVTLK SSPDLLTYFC WASSTSGAHV DSARLQMHWE
LWSKPVSELR ANFTLQDRGA GPRVEMICQA SSGSPPITNS LIGKDGQVHL QQRPCHRQPA
NFSFLPSQTS DWFWCQAANN ANVQHSALTV VPPGGDQKME DWQGPLESPI LALPLYRSTR
RLSEEEFGGF RIGNGEVRGR KAAAM