IGLL1 immunoglobulin lambda like polypeptide 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IGLL1provided by HGNC
Official Full Name: immunoglobulin lambda like polypeptide 1provided by HGNC
Primary source: HGNC:HGNC:5870
See related: Ensembl:ENSG00000128322 MIM:146770; AllianceGenome:HGNC:5870
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IGO; 14.1; AGM2; IGL1; IGL5; IGLL; IGVPB; CD179b; VPREB2; IGLJ14.1
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]
Expression: Biased expression in bone marrow (RPKM 17.7) and testis (RPKM 4.8) See more
Orthologs: mouse all
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Genomic context

Location:: 22q11.23

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (23573125..23580290, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (24020344..24027509, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (23915312..23922477, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a 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
Title: Autosomal recessive agammaglobulinemia associated with an IGLL1 gene missense mutation.
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.
Title: The Expression Pattern of the Pre-B Cell Receptor Components Correlates with Cellular Stage and Clinical Outcome in Acute Lymphoblastic Leukemia.
Hhydrophobic residues from the lambda5-UR is crucial for the interaction with GAL1 and for pre-BCR clustering.
Title: Structural basis for galectin-1-dependent pre-B cell receptor (pre-BCR) activation.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Agammaglobulinemia 2, autosomal recessive MedGen: C3150750 OMIM: 613500 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association for migraine in six population-based European cohorts. EBI GWAS Catalog EBI GWAS CatalogPubMed
The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-M27749 (e-PCR)
- UniSTS:18991

IGLC6 (e-PCR)
- UniSTS:266610

GDB:237864 (e-PCR)
- UniSTS:156277

RH71379 (e-PCR)
- UniSTS:43444

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables antigen binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in immunoglobulin mediated immune response	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of IgG immunoglobulin complex	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: immunoglobulin lambda-like polypeptide 1

Names: CD179 antigen-like family member B; CD179b antigen; Pre-B lymphocyte-specific protein-2; ig lambda-5; immunoglobulin omega polypeptide chain; immunoglobulin-related 14.1 protein; immunoglobulin-related protein 14.1; lambda5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009791.1 RefSeqGene

Range

5001..12184

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_69

mRNA and Protein(s)

NM_001369906.1 → NP_001356835.1 immunoglobulin lambda-like polypeptide 1 isoform c

Status: REVIEWED

Source sequence(s)

AP000345

UniProtKB/TrEMBL

C9JEE0

Related

ENSP00000403391.1, ENST00000438703.1

Conserved Domains (1) summary

cd07699
Location:115 → 210

IgC_L; Immunoglobulin Constant domain
NM_020070.4 → NP_064455.1 immunoglobulin lambda-like polypeptide 1 isoform a precursor

See identical proteins and their annotated locations for NP_064455.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

BC030239, M27749

Consensus CDS

CCDS13809.1

UniProtKB/Swiss-Prot

P15814, Q0P681

UniProtKB/TrEMBL

C9JEE0

Related

ENSP00000329312.2, ENST00000330377.3

Conserved Domains (1) summary

cd07699
Location:114 → 206

IgC_L; Immunoglobulin Constant domain
NM_152855.3 → NP_690594.1 immunoglobulin lambda-like polypeptide 1 isoform b precursor

See identical proteins and their annotated locations for NP_690594.1

Status: REVIEWED

Source sequence(s)

AP000345

Consensus CDS

CCDS13810.1

UniProtKB/Swiss-Prot

P15814

Related

ENSP00000249053.3, ENST00000249053.3