LOCUS       NM_020070                883 bp    mRNA    linear   PRI 18-MAR-2024
DEFINITION  Homo sapiens immunoglobulin lambda like polypeptide 1 (IGLL1),
            transcript variant 1, mRNA.
ACCESSION   NM_020070
VERSION     NM_020070.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 883)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 883)
  AUTHORS   Gemayel,K.T., Litman,G.W. and Sriaroon,P.
  TITLE     Autosomal recessive agammaglobulinemia associated with an IGLL1
            gene missense mutation
  JOURNAL   Ann Allergy Asthma Immunol 117 (4), 439-441 (2016)
   PUBMED   27576013
  REMARK    GeneRIF: in autosomal recessive agammaglobulinemia a homozygous
            missense mutation at codon 142 (CCG>with CTG) resulting in a
            Pro>Leu substitution was identified in exon 3 of the IGLL1 gene; 2
            additional silent homozygous substitutions were identified at
            codons 131 (T>C) and 140 (T>C); sequencing also revealed 2
            homozygous single-nucleotide polymorphisms in the noncoding region
            of exon 3
REFERENCE   3  (bases 1 to 883)
  AUTHORS   Chen,D., Zheng,J., Gerasimcik,N., Lagerstedt,K., Sjogren,H.,
            Abrahamsson,J., Fogelstrand,L. and Martensson,I.L.
  TITLE     The Expression Pattern of the Pre-B Cell Receptor Components
            Correlates with Cellular Stage and Clinical Outcome in Acute
            Lymphoblastic Leukemia
  JOURNAL   PLoS One 11 (9), e0162638 (2016)
   PUBMED   27611867
  REMARK    GeneRIF: Irrespective of subtype, Acute Lymphoblastic Leukemia with
            high levels of IGHM, IGLL1 and VPREB1 are arrested at the pre-B
            stage and correlate with good prognosis in high-risk pediatric
            B-cell precursor acute lymphoblastic leukemia.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 883)
  AUTHORS   Kullo,I.J., Shameer,K., Jouni,H., Lesnick,T.G., Pathak,J.,
            Chute,C.G. and de Andrade,M.
  TITLE     The ATXN2-SH2B3 locus is associated with peripheral arterial
            disease: an electronic medical record-based genome-wide association
            study
  JOURNAL   Front Genet 5, 166 (2014)
   PUBMED   25009551
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 883)
  AUTHORS   Elantak,L., Espeli,M., Boned,A., Bornet,O., Bonzi,J., Gauthier,L.,
            Feracci,M., Roche,P., Guerlesquin,F. and Schiff,C.
  TITLE     Structural basis for galectin-1-dependent pre-B cell receptor
            (pre-BCR) activation
  JOURNAL   J Biol Chem 287 (53), 44703-44713 (2012)
   PUBMED   23124203
  REMARK    GeneRIF: Hhydrophobic residues from the lambda5-UR is crucial for
            the interaction with GAL1 and for pre-BCR clustering.
REFERENCE   6  (bases 1 to 883)
  AUTHORS   Bossy,D., Milili,M., Zucman,J., Thomas,G., Fougereau,M. and
            Schiff,C.
  TITLE     Organization and expression of the lambda-like genes that
            contribute to the mu-psi light chain complex in human pre-B cells
  JOURNAL   Int Immunol 3 (11), 1081-1090 (1991)
   PUBMED   1760403
REFERENCE   7  (bases 1 to 883)
  AUTHORS   Mattei,M.G., Fumoux,F., Roeckel,N., Fougereau,M. and Schiff,C.
  TITLE     The human pre-B-specific lambda-like cluster is located in the
            22q11.2-22q12.3 region, distal to the IgC lambda locus
  JOURNAL   Genomics 9 (3), 544-546 (1991)
   PUBMED   1903358
REFERENCE   8  (bases 1 to 883)
  AUTHORS   Tsubata,T. and Reth,M.
  TITLE     The products of pre-B cell-specific genes (lambda 5 and VpreB) and
            the immunoglobulin mu chain form a complex that is transported onto
            the cell surface
  JOURNAL   J Exp Med 172 (3), 973-976 (1990)
   PUBMED   2117639
REFERENCE   9  (bases 1 to 883)
  AUTHORS   Schiff,C., Bensmana,M., Guglielmi,P., Milili,M., Lefranc,M.P. and
            Fougereau,M.
  TITLE     The immunoglobulin lambda-like gene cluster (14.1, 16.1 and F
            lambda 1) contains gene(s) selectively expressed in pre-B cells and
            is the human counterpart of the mouse lambda 5 gene
  JOURNAL   Int Immunol 2 (3), 201-207 (1990)
   PUBMED   2128466
REFERENCE   10 (bases 1 to 883)
  AUTHORS   Hollis,G.F., Evans,R.J., Stafford-Hollis,J.M., Korsmeyer,S.J. and
            McKearn,J.P.
  TITLE     Immunoglobulin lambda light-chain-related genes 14.1 and 16.1 are
            expressed in pre-B cells and may encode the human immunoglobulin
            omega light-chain protein
  JOURNAL   Proc Natl Acad Sci U S A 86 (14), 5552-5556 (1989)
   PUBMED   2501791
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M27749.1 and BC030239.1.
            
            On Nov 23, 2018 this sequence version replaced NM_020070.3.
            
            Summary: The preB cell receptor is found on the surface of proB and
            preB cells, where it is involved in transduction of signals for
            cellular proliferation, differentiation from the proB cell to the
            preB cell stage, allelic exclusion at the Ig heavy chain gene
            locus, and promotion of Ig light chain gene rearrangements. The
            preB cell receptor is composed of a membrane-bound Ig mu heavy
            chain in association with a heterodimeric surrogate light chain.
            This gene encodes one of the surrogate light chain subunits and is
            a member of the immunoglobulin gene superfamily. This gene does not
            undergo rearrangement. Mutations in this gene can result in B cell
            deficiency and agammaglobulinemia, an autosomal recessive disease
            in which few or no gamma globulins or antibodies are made. Two
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BG388370.1, M27749.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000330377.3/ ENSP00000329312.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-495               M27749.1           19-513
            496-883             BC030239.1         340-727
FEATURES             Location/Qualifiers
     source          1..883
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.23"
     gene            1..883
                     /gene="IGLL1"
                     /gene_synonym="14.1; AGM2; CD179b; IGL1; IGL5; IGLJ14.1;
                     IGLL; IGO; IGVPB; VPREB2"
                     /note="immunoglobulin lambda like polypeptide 1"
                     /db_xref="GeneID:3543"
                     /db_xref="HGNC:HGNC:5870"
                     /db_xref="MIM:146770"
     exon            1..306
                     /gene="IGLL1"
                     /gene_synonym="14.1; AGM2; CD179b; IGL1; IGL5; IGLJ14.1;
                     IGLL; IGO; IGVPB; VPREB2"
                     /inference="alignment:Splign:2.1.0"
     CDS             101..742
                     /gene="IGLL1"
                     /gene_synonym="14.1; AGM2; CD179b; IGL1; IGL5; IGLJ14.1;
                     IGLL; IGO; IGVPB; VPREB2"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; Pre-B lymphocyte-specific protein-2; lambda5;
                     immunoglobulin-related 14.1 protein; immunoglobulin omega
                     polypeptide chain; CD179b antigen; ig lambda-5; CD179
                     antigen-like family member B; immunoglobulin-related
                     protein 14.1"
                     /codon_start=1
                     /product="immunoglobulin lambda-like polypeptide 1 isoform
                     a precursor"
                     /protein_id="NP_064455.1"
                     /db_xref="CCDS:CCDS13809.1"
                     /db_xref="GeneID:3543"
                     /db_xref="HGNC:HGNC:5870"
                     /db_xref="MIM:146770"
                     /translation="MRPGTGQGGLEAPGEPGPNLRQRWPLLLLGLAVVTHGLLRPTAA
                     SQSRALGPGAPGGSSRSSLRSRWGRFLLQRGSWTGPRCWPRGFQSKHNSVTHVFGSGT
                     QLTVLSQPKATPSVTLFPPSSEELQANKATLVCLMNDFYPGILTVTWKADGTPITQGV
                     EMTTPSKQSNNKYAASSYLSLTPEQWRSRRSYSCQVMHEGSTVEKTVAPAECS"
     exon            307..422
                     /gene="IGLL1"
                     /gene_synonym="14.1; AGM2; CD179b; IGL1; IGL5; IGLJ14.1;
                     IGLL; IGO; IGVPB; VPREB2"
                     /inference="alignment:Splign:2.1.0"
     exon            423..883
                     /gene="IGLL1"
                     /gene_synonym="14.1; AGM2; CD179b; IGL1; IGL5; IGLJ14.1;
                     IGLL; IGO; IGVPB; VPREB2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      856..861
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGLL1"
                     /gene_synonym="14.1; AGM2; CD179b; IGL1; IGL5; IGLJ14.1;
                     IGLL; IGO; IGVPB; VPREB2"
                     /note="hexamer: AATAAA"
     polyA_site      883
                     /gene="IGLL1"
                     /gene_synonym="14.1; AGM2; CD179b; IGL1; IGL5; IGLJ14.1;
                     IGLL; IGO; IGVPB; VPREB2"
                     /note="major polyA site"
ORIGIN      
        1 gcaatgggac agctgctgcc agcgagaggg accagggcac cactctctag ggagcccaca
       61 ctgcaagtca ggccacaagg acctctgacc ctgagggccg atgaggccag ggacaggcca
      121 ggggggcctt gaggcccctg gtgagccagg ccccaacctc aggcagcgct ggcccctgct
      181 gctgctgggt ctggccgtgg taacccatgg cctgctgcgc ccaacagctg catcgcagag
      241 cagggccctg ggccctggag cccctggagg aagcagccgg tccagcctga ggagccggtg
      301 gggcaggttc ctgctccagc gcggctcctg gactggcccc aggtgctggc cccgggggtt
      361 tcaatccaag cataactcag tgacgcatgt gtttggcagc gggacccagc tcaccgtttt
      421 aagtcagccc aaggccaccc cctcggtcac tctgttcccg ccgtcctctg aggagctcca
      481 agccaacaag gctacactgg tgtgtctcat gaatgacttt tatccgggaa tcttgacggt
      541 gacctggaag gcagatggta cccccatcac ccagggcgtg gagatgacca cgccctccaa
      601 acagagcaac aacaagtacg cggccagcag ctacctgagc ctgacgcccg agcagtggag
      661 gtcccgcaga agctacagct gccaggtcat gcacgaaggg agcaccgtgg agaagacggt
      721 ggcccctgca gaatgttcat aggttcccag ccccgacccc acccaaaggg gcctggagct
      781 gcaggatccc aggggaaggg tctctctctg catcccaagc catccagccc ttctccctgt
      841 acccagtaaa ccctaaataa ataccctctt tgtcaaccag aaa
//
