ID IGLL1_HUMAN Reviewed; 213 AA. AC P15814; DT 01-APR-1990, integrated into UniProtKB/Swiss-Prot. DT 01-APR-1990, sequence version 1. DT 21-MAR-2012, entry version 117. DE RecName: Full=Immunoglobulin lambda-like polypeptide 1; DE AltName: Full=CD179 antigen-like family member B; DE AltName: Full=Ig lambda-5; DE AltName: Full=Immunoglobulin omega polypeptide; DE AltName: Full=Immunoglobulin-related protein 14.1; DE AltName: CD_antigen=CD179b; DE Flags: Precursor; GN Name=IGLL1; Synonyms=IGL1; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA]. RX MEDLINE=89315835; PubMed=2501791; DOI=10.1073/pnas.86.14.5552; RA Hollis G.F., Evans R.J., Stafford-Hollis J.M., Korsmeyer S.J., RA McKearn J.P.; RT "Immunoglobulin lambda light-chain-related genes 14.1 and 16.1 are RT expressed in pre-B cells and may encode the human immunoglobulin omega RT light-chain protein."; RL Proc. Natl. Acad. Sci. U.S.A. 86:5552-5556(1989). RN [2] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RC TISSUE=Lymphoid tissue; RX MEDLINE=91108327; PubMed=1703205; DOI=10.1084/jem.173.2.305; RA Evans R.J., Hollis G.F.; RT "Genomic structure of the human Ig lambda 1 gene suggests that it may RT be expressed as an Ig lambda 14.1-like protein or as a canonical B RT cell Ig lambda light chain: implications for Ig lambda gene RT evolution."; RL J. Exp. Med. 173:305-311(1991). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Testis; 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [4] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-193, AND TISSUE SPECIFICITY. RX MEDLINE=91207998; PubMed=2128466; DOI=10.1093/intimm/2.3.201; RA Schiff C., Bensmana M., Guglielmi P., Milili M., Lefranc M.-P., RA Fougereau M.; RT "The immunoglobulin lambda-like gene cluster (14.1, 16.1 and F lambda RT 1) contains gene(s) selectively expressed in pre-B cells and is the RT human counterpart of the mouse lambda 5 gene."; RL Int. Immunol. 2:201-207(1990). RN [5] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 95-213. RX MEDLINE=86113907; PubMed=3003227; DOI=10.1084/jem.163.2.425; RA Chang H., Dmitrovsky E., Hieter P.A., Mitchell K., Leder P., RA Turoczi L., Kirsch I.R., Hollis G.F.; RT "Identification of three new Ig lambda-like genes in man."; RL J. Exp. Med. 163:425-435(1986). RN [6] RP FUNCTION, SUBCELLULAR LOCATION, AND VARIANT LEU-142. RX PubMed=9419212; DOI=10.1084/jem.187.1.71; RA Minegishi Y., Coustan-Smith E., Wang Y.H., Cooper M.D., Campana D., RA Conley M.E.; RT "Mutations in the human lambda5/14.1 gene result in B cell deficiency RT and agammaglobulinemia."; RL J. Exp. Med. 187:71-77(1998). RN [7] RP X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 93-209 IN COMPLEX WITH RP VPREB1, SUBUNIT, AND DISULFIDE BOND. RX PubMed=17431183; DOI=10.1126/science.1139412; RA Bankovich A.J., Raunser S., Juo Z.S., Walz T., Davis M.M., RA Garcia K.C.; RT "Structural insight into pre-B cell receptor function."; RL Science 316:291-294(2007). CC -!- FUNCTION: Critical for B-cell development. CC -!- SUBUNIT: Associates non-covalently with VPREB1. CC -!- SUBCELLULAR LOCATION: Secreted. CC -!- TISSUE SPECIFICITY: Expressed only in pre-B-cells and a special B- CC cell line (which is surface Ig negative). CC -!- DISEASE: Defects in IGLL1 are the cause of agammaglobulinemia type CC 2 (AGM2) [MIM:613500]. It is a primary immunodeficiency CC characterized by profoundly low or absent serum antibodies and low CC or absent circulating B-cells due to an early block of B-cell CC development. Affected individuals develop severe infections in the CC first years of life. CC -!- SIMILARITY: Contains 1 Ig-like C1-type (immunoglobulin-like) CC domain. CC -!- WEB RESOURCE: Name=IGLL1base; Note=IGLL1 mutation db; CC URL="http://bioinf.uta.fi/IGLL1base/"; CC -!- WEB RESOURCE: Name=Wikipedia; Note=IGLL1; CC URL="http://en.wikipedia.org/wiki/IGLL1"; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; M27749; AAA36100.1; -; mRNA. DR EMBL; M34513; AAA36096.1; -; Genomic_DNA. DR EMBL; M34511; AAA36096.1; JOINED; Genomic_DNA. DR EMBL; M34512; AAA36096.1; JOINED; Genomic_DNA. DR EMBL; BC012293; AAH12293.1; -; mRNA. DR EMBL; X03528; CAA27229.1; -; Genomic_DNA. DR EMBL; X03530; CAA27231.1; -; Genomic_DNA. DR IPI; IPI00013438; -. DR PIR; A33911; A33911. DR RefSeq; NP_064455.1; NM_020070.2. DR RefSeq; NP_690594.1; NM_152855.1. DR UniGene; Hs.348935; -. DR PDB; 2H32; X-ray; 2.70 A; B=93-213. DR PDB; 2H3N; X-ray; 2.30 A; B/D=94-209. DR PDBsum; 2H32; -. DR PDBsum; 2H3N; -. DR ProteinModelPortal; P15814; -. DR SMR; P15814; 18-212. DR IntAct; P15814; 2. DR MINT; MINT-4657105; -. DR STRING; P15814; -. DR DMDM; 123944; -. DR PeptideAtlas; P15814; -. DR PRIDE; P15814; -. DR DNASU; 3543; -. DR Ensembl; ENST00000330377; ENSP00000329312; ENSG00000128322. DR GeneID; 3543; -. DR KEGG; hsa:3543; -. DR UCSC; uc002zxd.1; human. DR CTD; 3543; -. DR GeneCards; GC22M023915; -. DR HGNC; HGNC:5870; IGLL1. DR MIM; 146770; gene. DR MIM; 613500; phenotype. DR neXtProt; NX_P15814; -. DR Orphanet; 33110; Autosomal agammaglobulinemia. DR PharmGKB; PA29756; -. DR eggNOG; NOG46716; -. DR GeneTree; ENSGT00530000063029; -. DR HOVERGEN; HBG039526; -. DR InParanoid; P15814; -. DR KO; K06554; -. DR OMA; WGRFLLQ; -. DR PhylomeDB; P15814; -. DR NextBio; 13836; -. DR ArrayExpress; P15814; -. DR Bgee; P15814; -. DR CleanEx; HS_IGLL1; -. DR Genevestigator; P15814; -. DR GermOnline; ENSG00000128322; Homo sapiens. DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell. DR GO; GO:0016020; C:membrane; NAS:UniProtKB. DR GO; GO:0006955; P:immune response; NAS:UniProtKB. DR InterPro; IPR007110; Ig-like. DR InterPro; IPR013783; Ig-like_fold. DR InterPro; IPR003006; Ig/MHC_CS. DR InterPro; IPR003597; Ig_C1-set. DR Gene3D; G3DSA:2.60.40.10; Ig-like_fold; 1. DR Pfam; PF07654; C1-set; 1. DR SMART; SM00407; IGc1; 1. DR PROSITE; PS50835; IG_LIKE; 1. DR PROSITE; PS00290; IG_MHC; 1. PE 1: Evidence at protein level; KW 3D-structure; Complete proteome; Disease mutation; Disulfide bond; KW Immunoglobulin domain; Polymorphism; Reference proteome; Secreted; KW Signal. FT SIGNAL 1 37 Potential. FT CHAIN 38 213 Immunoglobulin lambda-like polypeptide 1. FT /FTId=PRO_0000014777. FT DOMAIN 114 208 Ig-like C1-type. FT REGION 97 108 J region (By similarity to lambda light- FT chain). FT REGION 109 213 C region (By similarity to lambda light- FT chain). FT DISULFID 135 194 FT DISULFID 212 212 Interchain (with a heavy chain) (By FT similarity). FT VARIANT 120 120 P -> L (in dbSNP:rs1064425). FT /FTId=VAR_049878. FT VARIANT 142 142 P -> L (in a patient with FT agammaglobulinemia; dbSNP:rs1064422). FT /FTId=VAR_034869. FT VARIANT 189 189 R -> H (in dbSNP:rs8138122). FT /FTId=VAR_059392. FT STRAND 102 108 FT STRAND 115 119 FT HELIX 123 126 FT TURN 127 129 FT STRAND 131 143 FT STRAND 146 151 FT STRAND 158 162 FT STRAND 173 181 FT HELIX 183 188 FT STRAND 192 198 FT STRAND 201 207 SQ SEQUENCE 213 AA; 22963 MW; 9133A7742B943C79 CRC64; MRPGTGQGGL EAPGEPGPNL RQRWPLLLLG LAVVTHGLLR PTAASQSRAL GPGAPGGSSR SSLRSRWGRF LLQRGSWTGP RCWPRGFQSK HNSVTHVFGS GTQLTVLSQP KATPSVTLFP PSSEELQANK ATLVCLMNDF YPGILTVTWK ADGTPITQGV EMTTPSKQSN NKYAASSYLS LTPEQWRSRR SYSCQVMHEG STVEKTVAPA ECS //