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Aliases for IGLL1 Gene

Aliases for IGLL1 Gene

  • Immunoglobulin Lambda Like Polypeptide 1 2 3 5
  • Immunoglobulin Lambda-Like Polypeptide 1 2 3
  • 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
  • Lambda 5 2
  • 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 Cell surface interactions at the vascular wall and Response to elevated platelet cytosolic Ca2+. An important paralog of this gene is IGLL5.

UniProtKB/Swiss-Prot for IGLL1 Gene

  • Critical for B-cell development.

Gene Wiki entry for IGLL1 Gene

Additional gene information for IGLL1 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H023583 0.7 FANTOM5 dbSUPER 35 -3.5 -3511 0 POLR2A IGLL1 VPREB3 ASLP1 ENSG00000272733 PIR48511
GH22H023532 1.6 Ensembl ENCODE dbSUPER 13 +44.3 44298 8 HDGF PKNOX1 FOXA2 ARID4B ZNF2 YY1 ZNF766 ZNF143 SP5 MXD4 LOC105372957 ZNF70 LOC100652871 ENSG00000224205 ENSG00000235689 ENSG00000228039 LOC100287966 IGLV3-17 RPS10P29 SPECC1L
GH22H023565 0.7 FANTOM5 ENCODE 22.4 +14.7 14704 0 PRDM1 RARA EZH2 IGLL1 LOC105372957 GC22P023547
GH22H023581 0.5 FANTOM5 dbSUPER 20.1 -1.0 -969 0 IGLL1 ENSG00000272733
GH22H023580 0.5 ENCODE dbSUPER 0.7 -0.3 -337 0 LINC01658 ENSG00000272733 IGLL1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Post-translational modifications for IGLL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IGLL1 Gene

No data available for DME Specific Peptides for IGLL1 Gene

Domains & Families for IGLL1 Gene

Gene Families for IGLL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

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

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

No data available for UniProtKB/Swiss-Prot for IGLL1 Gene

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.

Phenotypes From GWAS Catalog for IGLL1 Gene

Gene Ontology (GO) - Molecular Function for IGLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003823 antigen binding IBA --
GO:0034987 immunoglobulin receptor binding IBA --
genes like me logo Genes that share ontologies with IGLL1: view
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for IGLL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IGLL1 gene
Compartment Confidence
extracellular 5
plasma membrane 4
nucleus 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IGLL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0009897 external side of plasma membrane IBA --
GO:0016020 membrane NAS 2501791
GO:0042571 immunoglobulin complex, circulating IBA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with IGLL1: view

Pathways & Interactions for IGLL1 Gene

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

Pathways by source for IGLL1 Gene

2 Reactome pathways 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:0006911 phagocytosis, engulfment IBA --
GO:0006955 immune response NAS 2501791
GO:0006958 complement activation, classical pathway IBA --
GO:0042742 defense response to bacterium 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

(1) Drugs for IGLL1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma Target 188
genes like me logo Genes that share compounds with IGLL1: view

Transcripts for IGLL1 Gene

mRNA/cDNA for IGLL1 Gene

Unigene Clusters for IGLL1 Gene

Immunoglobulin lambda-like polypeptide 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for IGLL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of IGLL1 Gene:

IGLL1

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).

Evidence on tissue expression from TISSUES for IGLL1 Gene

  • Bone marrow(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IGLL1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • outer ear
  • sinus
  • skull
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
Pelvis:
  • pelvis
  • rectum
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with IGLL1: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia LOC100614342 33
  • 83.85 (n)
dog
(Canis familiaris)
Mammalia LOC608248 33
  • 83.76 (n)
-- 34
  • 79 (a)
ManyToMany
-- 34
  • 79 (a)
ManyToMany
-- 34
  • 75 (a)
ManyToMany
-- 34
  • 72 (a)
ManyToMany
-- 34
  • 64 (a)
ManyToMany
-- 34
  • 48 (a)
ManyToMany
-- 34
  • 42 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia LOC100847119 33
  • 77.39 (n)
IGLL1 34
  • 41 (a)
ManyToMany
-- 34
  • 39 (a)
ManyToMany
VPREB 34
  • 32 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Igll1 33
  • 72.97 (n)
mouse
(Mus musculus)
Mammalia Igll1 33
  • 71.53 (n)
Iglc2 34
  • 63 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 63 (a)
ManyToMany
-- 34
  • 34 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 46 (a)
ManyToMany
-- 34
  • 45 (a)
ManyToMany
-- 34
  • 45 (a)
ManyToMany
-- 34
  • 38 (a)
ManyToMany
-- 34
  • 11 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 34
  • 31 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 53 (a)
ManyToMany
-- 34
  • 31 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101735033 33
  • 54.2 (n)
zebrafish
(Danio rerio)
Actinopterygii CU571382.2 34
  • 10 (a)
ManyToMany
Species where no ortholog for IGLL1 was found in the sources mined by GeneCards:
  • 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:

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
rs1064422 Pathogenic, Agammaglobulinemia 2, autosomal recessive (AGM2) [MIM:613500] 23,573,483(-) TTATC(C/T)GGGAA downstream-variant-500B, reference, missense, utr-variant-3-prime
rs532338576 Pathogenic 23,575,031(+) TGAAA(-/C)CCCCG intron-variant, reference, frameshift-variant
rs74315491 Pathogenic 23,580,127(-) TCAGG(C/T)AGCGC reference, stop-gained
rs1000046947 -- 23,576,192(+) TCAAC(C/T)CCTCA intron-variant
rs1000453116 -- 23,582,139(+) CATGC(C/T)AGCTA intron-variant, downstream-variant-500B, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv4528n100 CNV gain 25217958
dgv4529n100 CNV gain 25217958
dgv4530n100 CNV gain 25217958
dgv8039n54 CNV gain 21841781
dgv8043n54 CNV gain 21841781
dgv828e214 CNV loss 21293372
esv23191 CNV loss 19812545
esv2724041 CNV deletion 23290073
esv2724056 CNV deletion 23290073
esv2760716 CNV gain 21179565
esv2762117 CNV gain 21179565
esv3575443 CNV gain 25503493
esv3647408 CNV gain 21293372
esv3893457 CNV gain 25118596
esv3893461 CNV gain 25118596
nsv1059951 CNV gain 25217958
nsv1060587 CNV gain+loss 25217958
nsv1062411 CNV gain 25217958
nsv1066846 CNV loss 25217958
nsv1066891 CNV gain 25217958
nsv436353 CNV deletion 17901297
nsv459677 CNV loss 19166990
nsv459682 CNV gain 19166990
nsv471186 CNV loss 18288195
nsv471187 CNV gain 18288195
nsv511073 OTHER complex 20534489
nsv520582 CNV gain 19592680
nsv526567 CNV gain 19592680
nsv588601 CNV gain 21841781
nsv588606 CNV loss 21841781
nsv588619 CNV gain+loss 21841781
nsv7350 OTHER inversion 18451855
nsv953052 CNV deletion 24416366
nsv964604 CNV duplication 23825009
nsv9876 CNV gain+loss 18304495

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IGLL1

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

Disorders for IGLL1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for IGLL1 Gene - From: HGMD, 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
ventilation pneumonitis
  • air-conditioner and humidifier lung
- 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 DI (European journal of human genetics : EJHG 2011) 3 45 60
  2. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson DF … Stefansson K (Nature genetics 2008) 3 45 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. (PMID: 9419212) Minegishi Y … Conley ME (The Journal of experimental medicine 1998) 3 4 60
  5. Physical location of the human immunoglobulin lambda-like genes, 14.1, 16.1, and 16.2. (PMID: 8406611) Bauer TR … Blomberg BB (Immunogenetics 1993) 3 22 60

Products for IGLL1 Gene

Sources for IGLL1 Gene

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