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Aliases for IGLL1 Gene

Aliases for IGLL1 Gene

  • Immunoglobulin Lambda Like Polypeptide 1 2 3
  • Immunoglobulin Lambda-Like Polypeptide 1 2 5
  • Immunoglobulin-Related Protein 14.1 3 4
  • CD179 Antigen-Like Family Member B 3 4
  • CD179b Antigen 3 4
  • Ig Lambda-5 3 4
  • IGL1 3 4
  • Immunoglobulin Omega Polypeptide Chain 3
  • Pre-B Lymphocyte-Specific Protein-2 3
  • Immunoglobulin-Related 14.1 Protein 3
  • Immunoglobulin Omega Polypeptide 4
  • IGLJ14.1 3
  • Lambda5 3
  • CD179b 3
  • VPREB2 3
  • IGVPB 3
  • 14.1 3
  • AGM2 3
  • IGL5 3
  • IGLL 3
  • IGO 3

External Ids for IGLL1 Gene

Previous HGNC Symbols for IGLL1 Gene

  • IGLL

Previous GeneCards Identifiers for IGLL1 Gene

  • GC22M020611
  • GC22M022239
  • GC22M022245
  • GC22M023915
  • GC22M006905

Summaries for IGLL1 Gene

Entrez Gene Summary for IGLL1 Gene

  • 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]

GeneCards Summary for IGLL1 Gene

IGLL1 (Immunoglobulin Lambda Like Polypeptide 1) is a Protein Coding gene. Diseases associated with IGLL1 include Agammaglobulinemia 2 and Agammaglobulinemia, Non-Bruton Type. Among its related pathways are Primary immunodeficiency. An important paralog of this gene is IGLC1.

UniProtKB/Swiss-Prot for IGLL1 Gene

  • Critical for B-cell development.

Gene Wiki entry for IGLL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IGLL1 Gene

Genomics for IGLL1 Gene

Regulatory Elements for IGLL1 Gene

Enhancers for IGLL1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around IGLL1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the IGLL1 gene promoter:

Genomic Location for IGLL1 Gene

Chromosome:
22
Start:
23,573,125 bp from pter
End:
23,580,472 bp from pter
Size:
7,348 bases
Orientation:
Minus strand

Genomic View for IGLL1 Gene

Genes around IGLL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGLL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IGLL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGLL1 Gene

Proteins for IGLL1 Gene

  • Protein details for IGLL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15814-IGLL1_HUMAN
    Recommended name:
    Immunoglobulin lambda-like polypeptide 1
    Protein Accession:
    P15814
    Secondary Accessions:
    • Q0P681

    Protein attributes for IGLL1 Gene

    Size:
    213 amino acids
    Molecular mass:
    22963 Da
    Quaternary structure:
    • Associates non-covalently with VPREB1.

    Three dimensional structures from OCA and Proteopedia for IGLL1 Gene

    Alternative splice isoforms for IGLL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IGLL1 Gene

Proteomics data for IGLL1 Gene at MOPED

Post-translational modifications for IGLL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IGLL1 Gene

Antibody Products

  • Cloud-Clone Corp. Antibodies for IGLL1

No data available for DME Specific Peptides for IGLL1 Gene

Domains & Families for IGLL1 Gene

Gene Families for IGLL1 Gene

Protein Domains for IGLL1 Gene

Suggested Antigen Peptide Sequences for IGLL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P15814

UniProtKB/Swiss-Prot:

IGLL1_HUMAN :
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
Domain:
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
genes like me logo Genes that share domains with IGLL1: view

Function for IGLL1 Gene

Molecular function for IGLL1 Gene

GENATLAS Biochemistry:
immunoglobulin,lambda-like (14.1),encoding a gene associating with VpreB gene product,pre-B-cell specific
UniProtKB/Swiss-Prot Function:
Critical for B-cell development.
genes like me logo Genes that share phenotypes with IGLL1: view

Human Phenotype Ontology for IGLL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for IGLL1 Gene

Localization for IGLL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGLL1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IGLL1 Gene COMPARTMENTS Subcellular localization image for IGLL1 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytosol 2
nucleus 2
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for IGLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009897 external side of plasma membrane IBA --
GO:0016020 membrane NAS 2501791
genes like me logo Genes that share ontologies with IGLL1: view

Pathways & Interactions for IGLL1 Gene

SuperPathways for IGLL1 Gene

Superpath Contained pathways
1 Primary immunodeficiency
genes like me logo Genes that share pathways with IGLL1: view

Pathways by source for IGLL1 Gene

1 KEGG pathway for IGLL1 Gene

Gene Ontology (GO) - Biological Process for IGLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006910 phagocytosis, recognition IBA --
GO:0045087 innate immune response IBA --
GO:0050871 positive regulation of B cell activation IBA --
genes like me logo Genes that share ontologies with IGLL1: view

No data available for SIGNOR curated interactions for IGLL1 Gene

Drugs & Compounds for IGLL1 Gene

No Compound Related Data Available

Transcripts for IGLL1 Gene

mRNA/cDNA for IGLL1 Gene

Unigene Clusters for IGLL1 Gene

Immunoglobulin lambda-like polypeptide 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IGLL1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c
SP1:
SP2:
SP3: -

Relevant External Links for IGLL1 Gene

GeneLoc Exon Structure for
IGLL1
ECgene alternative splicing isoforms for
IGLL1

Expression for IGLL1 Gene

mRNA expression in normal human tissues for IGLL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IGLL1 Gene

This gene is overexpressed in Testis (x44.0).

Protein differential expression in normal tissues from HIPED for IGLL1 Gene

This gene is overexpressed in Plasma (18.9), Urine (15.5), and Serum (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for IGLL1 Gene



SOURCE GeneReport for Unigene cluster for IGLL1 Gene Hs.348935

mRNA Expression by UniProt/SwissProt for IGLL1 Gene

P15814-IGLL1_HUMAN
Tissue specificity: Expressed only in pre-B-cells and a special B-cell line (which is surface Ig negative).
genes like me logo Genes that share expression patterns with IGLL1: view

No data available for Protein tissue co-expression partners for IGLL1 Gene

Orthologs for IGLL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IGLL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC100847119 35
  • 77.39 (n)
  • 69.57 (a)
-- 36
  • 39 (a)
ManyToMany
IGLL1 36
  • 41 (a)
ManyToMany
VPREB 36
  • 32 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia LOC607582 35
  • 83.76 (n)
  • 79.49 (a)
-- 36
  • 42 (a)
ManyToMany
-- 36
  • 64 (a)
ManyToMany
-- 36
  • 79 (a)
ManyToMany
-- 36
  • 79 (a)
ManyToMany
-- 36
  • 75 (a)
ManyToMany
-- 36
  • 48 (a)
ManyToMany
-- 36
  • 72 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Igll1 35
  • 71.53 (n)
  • 61.62 (a)
Iglc2 36
  • 63 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia LOC100614342 35
  • 83.85 (n)
  • 77.34 (a)
rat
(Rattus norvegicus)
Mammalia Igll1 35
  • 72.97 (n)
  • 63.24 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 38 (a)
ManyToMany
-- 36
  • 11 (a)
ManyToMany
-- 36
  • 45 (a)
ManyToMany
-- 36
  • 45 (a)
ManyToMany
-- 36
  • 46 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 63 (a)
ManyToMany
-- 36
  • 34 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 36
  • 31 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 53 (a)
ManyToMany
-- 36
  • 31 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101735033 35
  • 54.2 (n)
  • 49.57 (a)
zebrafish
(Danio rerio)
Actinopterygii CU571382.2 36
  • 10 (a)
ManyToMany
Species with no ortholog for IGLL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IGLL1 Gene

ENSEMBL:
Gene Tree for IGLL1 (if available)
TreeFam:
Gene Tree for IGLL1 (if available)

Paralogs for IGLL1 Gene

Paralogs for IGLL1 Gene

(13) SIMAP similar genes for IGLL1 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for IGLL1 Gene

genes like me logo Genes that share paralogs with IGLL1: view

Variants for IGLL1 Gene

Sequence variations from dbSNP and Humsavar for IGLL1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
VAR_034869 Agammaglobulinemia 2, autosomal recessive (AGM2)
VAR_049878 -
VAR_059392 -
rs131418 -- 23,574,124(+) TCACA(G/T)CGGCT intron-variant
rs131419 -- 23,574,126(+) ACATC(A/G)GCTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IGLL1 Gene

Variant ID Type Subtype PubMed ID
nsv7350 OTHER Inversion 18451855
nsv9876 CNV Gain+Loss 18304495
dgv4903n71 CNV Gain 21882294
esv2724041 CNV Deletion 23290073
nsv526567 CNV Gain 19592680
nsv511073 CNV Complex 20534489
dgv4905n71 CNV Loss 21882294
nsv471186 CNV Loss 18288195
nsv914589 CNV Gain 21882294
nsv459677 CNV Loss 19166990
nsv914590 CNV Gain+Loss 21882294
nsv914591 CNV Loss 21882294
nsv436353 CNV Deletion 17901297
esv23191 CNV Loss 19812545
esv2724056 CNV Deletion 23290073
nsv520582 CNV Gain 19592680
nsv914592 CNV Gain 21882294
nsv471187 CNV Gain 18288195
nsv459682 CNV Gain 19166990

Variation tolerance for IGLL1 Gene

Residual Variation Intolerance Score: 97.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.84; 67.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IGLL1 Gene

Human Gene Mutation Database (HGMD)
IGLL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IGLL1 Gene

Disorders for IGLL1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for IGLL1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
agammaglobulinemia 2
  • agammaglobulinemia 2, autosomal recessive
agammaglobulinemia, non-bruton type
  • autosomal agammaglobulinemia
agammaglobulinemia
  • hypogammaglobulinemia
b cell deficiency
  • b cell deficiencies
congenital hypogammaglobulinemia
  • congenital hypogammaglobulinaemia
- elite association - COSMIC cancer census association via MalaCards
Search IGLL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IGLL1_HUMAN
  • 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. {ECO:0000269 PubMed:9419212}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for IGLL1

Genetic Association Database (GAD)
IGLL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IGLL1
genes like me logo Genes that share disorders with IGLL1: view

No data available for Genatlas for IGLL1 Gene

Publications for IGLL1 Gene

  1. Meta-analysis of genome-wide association for migraine in six population-based European cohorts. (PMID: 21448238) Ligthart L. … Boomsma D.I. (Eur. J. Hum. Genet. 2011) 3 48 67
  2. Physical location of the human immunoglobulin lambda-like genes, 14.1, 16.1, and 16.2. (PMID: 8406611) Bauer T.R. … Blomberg B.B. (Immunogenetics 1993) 3 23
  3. Isolation of early immunoglobulin lambda-like gene transcripts in human fetal liver. (PMID: 2511029) Schiff C. … Fougereau M. (Eur. J. Immunol. 1989) 2 3
  4. The human Vpre B gene is located on chromosome 22 near a cluster of V lambda gene segments. (PMID: 3139558) Bauer S.R. … Melchers F. (Immunogenetics 1988) 2 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for IGLL1 Gene

Sources for IGLL1 Gene

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