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P15814

- IGLL1_HUMAN

UniProt

P15814 - IGLL1_HUMAN

Protein

Immunoglobulin lambda-like polypeptide 1

Gene

IGLL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 141 (01 Oct 2014)
      Sequence version 1 (01 Apr 1990)
      Previous versions | rss
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    Functioni

    Critical for B-cell development.1 Publication

    GO - Biological processi

    1. immune response Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Immunoglobulin lambda-like polypeptide 1
    Alternative name(s):
    CD179 antigen-like family member B
    Ig lambda-5
    Immunoglobulin omega polypeptide
    Immunoglobulin-related protein 14.1
    CD_antigen: CD179b
    Gene namesi
    Name:IGLL1
    Synonyms:IGL1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:5870. IGLL1.

    Subcellular locationi

    Secreted 1 Publication

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Agammaglobulinemia 2, autosomal recessive (AGM2) [MIM:613500]: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti142 – 1421P → L in AGM2. 1 Publication
    Corresponds to variant rs1064422 [ dbSNP | Ensembl ].
    VAR_034869

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi613500. phenotype.
    Orphaneti33110. Autosomal agammaglobulinemia.
    PharmGKBiPA29756.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3737Sequence AnalysisAdd
    BLAST
    Chaini38 – 213176Immunoglobulin lambda-like polypeptide 1PRO_0000014777Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi135 ↔ 1941 PublicationPROSITE-ProRule annotation
    Disulfide bondi212 – 212Interchain (with a heavy chain)PROSITE-ProRule annotation

    Keywords - PTMi

    Disulfide bond

    Proteomic databases

    MaxQBiP15814.
    PaxDbiP15814.
    PeptideAtlasiP15814.
    PRIDEiP15814.

    PTM databases

    PhosphoSiteiP15814.

    Expressioni

    Tissue specificityi

    Expressed only in pre-B-cells and a special B-cell line (which is surface Ig negative).1 Publication

    Gene expression databases

    ArrayExpressiP15814.
    BgeeiP15814.
    CleanExiHS_IGLL1.
    GenevestigatoriP15814.

    Interactioni

    Subunit structurei

    Associates non-covalently with VPREB1.1 Publication

    Protein-protein interaction databases

    BioGridi109759. 1 interaction.
    IntActiP15814. 5 interactions.
    MINTiMINT-4657105.
    STRINGi9606.ENSP00000329312.

    Structurei

    Secondary structure

    1
    213
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Turni61 – 655
    Helixi66 – 705
    Helixi72 – 754
    Beta strandi102 – 1087
    Beta strandi115 – 1195
    Helixi123 – 1264
    Turni127 – 1293
    Beta strandi131 – 14313
    Beta strandi146 – 1516
    Beta strandi158 – 1625
    Beta strandi173 – 1819
    Helixi183 – 1886
    Beta strandi192 – 1987
    Beta strandi201 – 2077

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2H32X-ray2.70B93-213[»]
    2H3NX-ray2.30B/D94-209[»]
    2LKQNMR-A59-82[»]
    ProteinModelPortaliP15814.
    SMRiP15814. Positions 13-212.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP15814.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini114 – 20895Ig-like C1-typeAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni97 – 10812J region (By similarity to lambda light-chain)Add
    BLAST
    Regioni109 – 213105C region (By similarity to lambda light-chain)Add
    BLAST

    Sequence similaritiesi

    Keywords - Domaini

    Immunoglobulin domain, Signal

    Phylogenomic databases

    eggNOGiNOG46716.
    HOGENOMiHOG000113013.
    HOVERGENiHBG039526.
    InParanoidiP15814.
    KOiK06554.
    OMAiKHNSVTH.
    OrthoDBiEOG7X0VQW.
    PhylomeDBiP15814.
    TreeFamiTF335549.

    Family and domain databases

    Gene3Di2.60.40.10. 1 hit.
    InterProiIPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR003006. Ig/MHC_CS.
    IPR003597. Ig_C1-set.
    [Graphical view]
    PfamiPF07654. C1-set. 1 hit.
    [Graphical view]
    SMARTiSM00407. IGc1. 1 hit.
    [Graphical view]
    PROSITEiPS50835. IG_LIKE. 1 hit.
    PS00290. IG_MHC. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P15814-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MRPGTGQGGL EAPGEPGPNL RQRWPLLLLG LAVVTHGLLR PTAASQSRAL    50
    GPGAPGGSSR SSLRSRWGRF LLQRGSWTGP RCWPRGFQSK HNSVTHVFGS 100
    GTQLTVLSQP KATPSVTLFP PSSEELQANK ATLVCLMNDF YPGILTVTWK 150
    ADGTPITQGV EMTTPSKQSN NKYAASSYLS LTPEQWRSRR SYSCQVMHEG 200
    STVEKTVAPA ECS 213
    Length:213
    Mass (Da):22,963
    Last modified:April 1, 1990 - v1
    Checksum:i9133A7742B943C79
    GO
    Isoform 2 (identifier: P15814-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         70-213: FLLQRGSWTG...EKTVAPAECS → SAQGHPLGHSVPAVL

    Note: No experimental confirmation available.

    Show »
    Length:84
    Mass (Da):8,574
    Checksum:i60CEE4A92442032A
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti120 – 1201P → L.
    Corresponds to variant rs1064425 [ dbSNP | Ensembl ].
    VAR_049878
    Natural varianti142 – 1421P → L in AGM2. 1 Publication
    Corresponds to variant rs1064422 [ dbSNP | Ensembl ].
    VAR_034869
    Natural varianti189 – 1891R → H.
    Corresponds to variant rs8138122 [ dbSNP | Ensembl ].
    VAR_059392

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei70 – 213144FLLQR…PAECS → SAQGHPLGHSVPAVL in isoform 2. 1 PublicationVSP_042748Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M27749 mRNA. Translation: AAA36100.1.
    M34513, M34511, M34512 Genomic DNA. Translation: AAA36096.1.
    AP000345 Genomic DNA. No translation available.
    BC030239 mRNA. Translation: AAH30239.2.
    BC012293 mRNA. Translation: AAH12293.1.
    X03528 Genomic DNA. Translation: CAA27229.1.
    X03530 Genomic DNA. Translation: CAA27231.1.
    CCDSiCCDS13809.1. [P15814-1]
    CCDS13810.1. [P15814-2]
    PIRiA33911.
    RefSeqiNP_064455.1. NM_020070.3. [P15814-1]
    NP_690594.1. NM_152855.2. [P15814-2]
    UniGeneiHs.348935.

    Genome annotation databases

    EnsembliENST00000249053; ENSP00000249053; ENSG00000128322. [P15814-2]
    ENST00000330377; ENSP00000329312; ENSG00000128322. [P15814-1]
    GeneIDi3543.
    KEGGihsa:3543.
    UCSCiuc002zxd.3. human. [P15814-1]
    uc002zxe.3. human. [P15814-2]

    Polymorphism databases

    DMDMi123944.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    IGLL1base

    IGLL1 mutation db

    Wikipedia

    IGLL1

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M27749 mRNA. Translation: AAA36100.1 .
    M34513 , M34511 , M34512 Genomic DNA. Translation: AAA36096.1 .
    AP000345 Genomic DNA. No translation available.
    BC030239 mRNA. Translation: AAH30239.2 .
    BC012293 mRNA. Translation: AAH12293.1 .
    X03528 Genomic DNA. Translation: CAA27229.1 .
    X03530 Genomic DNA. Translation: CAA27231.1 .
    CCDSi CCDS13809.1. [P15814-1 ]
    CCDS13810.1. [P15814-2 ]
    PIRi A33911.
    RefSeqi NP_064455.1. NM_020070.3. [P15814-1 ]
    NP_690594.1. NM_152855.2. [P15814-2 ]
    UniGenei Hs.348935.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2H32 X-ray 2.70 B 93-213 [» ]
    2H3N X-ray 2.30 B/D 94-209 [» ]
    2LKQ NMR - A 59-82 [» ]
    ProteinModelPortali P15814.
    SMRi P15814. Positions 13-212.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109759. 1 interaction.
    IntActi P15814. 5 interactions.
    MINTi MINT-4657105.
    STRINGi 9606.ENSP00000329312.

    PTM databases

    PhosphoSitei P15814.

    Polymorphism databases

    DMDMi 123944.

    Proteomic databases

    MaxQBi P15814.
    PaxDbi P15814.
    PeptideAtlasi P15814.
    PRIDEi P15814.

    Protocols and materials databases

    DNASUi 3543.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000249053 ; ENSP00000249053 ; ENSG00000128322 . [P15814-2 ]
    ENST00000330377 ; ENSP00000329312 ; ENSG00000128322 . [P15814-1 ]
    GeneIDi 3543.
    KEGGi hsa:3543.
    UCSCi uc002zxd.3. human. [P15814-1 ]
    uc002zxe.3. human. [P15814-2 ]

    Organism-specific databases

    CTDi 3543.
    GeneCardsi GC22M023915.
    HGNCi HGNC:5870. IGLL1.
    MIMi 146770. gene.
    613500. phenotype.
    neXtProti NX_P15814.
    Orphaneti 33110. Autosomal agammaglobulinemia.
    PharmGKBi PA29756.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG46716.
    HOGENOMi HOG000113013.
    HOVERGENi HBG039526.
    InParanoidi P15814.
    KOi K06554.
    OMAi KHNSVTH.
    OrthoDBi EOG7X0VQW.
    PhylomeDBi P15814.
    TreeFami TF335549.

    Miscellaneous databases

    EvolutionaryTracei P15814.
    GeneWikii IGLL1.
    GenomeRNAii 3543.
    NextBioi 13836.
    PROi P15814.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P15814.
    Bgeei P15814.
    CleanExi HS_IGLL1.
    Genevestigatori P15814.

    Family and domain databases

    Gene3Di 2.60.40.10. 1 hit.
    InterProi IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR003006. Ig/MHC_CS.
    IPR003597. Ig_C1-set.
    [Graphical view ]
    Pfami PF07654. C1-set. 1 hit.
    [Graphical view ]
    SMARTi SM00407. IGc1. 1 hit.
    [Graphical view ]
    PROSITEi PS50835. IG_LIKE. 1 hit.
    PS00290. IG_MHC. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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."
      Hollis G.F., Evans R.J., Stafford-Hollis J.M., Korsmeyer S.J., McKearn J.P.
      Proc. Natl. Acad. Sci. U.S.A. 86:5552-5556(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Genomic structure of the human Ig lambda 1 gene suggests that it may be expressed as an Ig lambda 14.1-like protein or as a canonical B cell Ig lambda light chain: implications for Ig lambda gene evolution."
      Evans R.J., Hollis G.F.
      J. Exp. Med. 173:305-311(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Lymphoid tissue.
    3. "The DNA sequence of human chromosome 22."
      Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
      , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
      Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Testis.
    5. "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."
      Schiff C., Bensmana M., Guglielmi P., Milili M., Lefranc M.-P., Fougereau M.
      Int. Immunol. 2:201-207(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-193, TISSUE SPECIFICITY.
    6. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 95-213.
    7. "Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia."
      Minegishi Y., Coustan-Smith E., Wang Y.H., Cooper M.D., Campana D., Conley M.E.
      J. Exp. Med. 187:71-77(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT AGM2 LEU-142.
    8. "Structural insight into pre-B cell receptor function."
      Bankovich A.J., Raunser S., Juo Z.S., Walz T., Davis M.M., Garcia K.C.
      Science 316:291-294(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 93-209 IN COMPLEX WITH VPREB1, SUBUNIT, DISULFIDE BOND.

    Entry informationi

    Entry nameiIGLL1_HUMAN
    AccessioniPrimary (citable) accession number: P15814
    Secondary accession number(s): Q0P681
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1990
    Last sequence update: April 1, 1990
    Last modified: October 1, 2014
    This is version 141 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human cell differentiation molecules
      CD nomenclature of surface proteins of human leucocytes and list of entries
    2. Human chromosome 22
      Human chromosome 22: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3