Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3543
Gene name	Immunoglobulin lambda like polypeptide 1
Gene symbol	IGLL1
Synonyms (NCBI Gene)	14.1AGM2CD179bIGL1IGL5IGLJ14.1IGLLIGOIGVPBVPREB2
Chromosome	22
Chromosome location	22q11.23
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 locu

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74315491	G>A	Pathogenic	Stop gained, coding sequence variant

Show/Hide all (9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003823	Function	Antigen binding	IBA
GO:0005515	Function	Protein binding	IPI	19273555, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0006955	Process	Immune response	NAS	2501791
GO:0016020	Component	Membrane	NAS	2501791
GO:0016064	Process	Immunoglobulin mediated immune response	IBA
GO:0071735	Component	IgG immunoglobulin complex	IBA

MIM	HGNC	e!Ensembl
146770	5870	ENSG00000128322

P15814

Protein name

Immunoglobulin lambda-like polypeptide 1 (CD179 antigen-like family member B) (Ig lambda-5) (Immunoglobulin omega polypeptide) (Immunoglobulin-related protein 14.1) (CD antigen CD179b)

Protein function

Critical for B-cell development.

PDB

2H32 , 2H3N , 2LKQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07654	C1-set	116 → 201	Immunoglobulin C1-set domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed only in pre-B-cells and a special B-cell line (which is surface Ig negative). {ECO:0000269|PubMed:2128466}.

Sequence

MRPGTGQGGLEAPGEPGPNLRQRWPLLLLGLAVVTHGLLRPTAASQSRALGPGAPGGSSR
SSLRSRWGRFLLQRGSWTGPRCWPRGFQSKHNSVTHVFGSGTQLTVLSQPKATPSVTLFP
PSSEELQANKATLVCLMNDFYPGILTVTWKADGTPITQGVEMTTPSKQSNNKYAASSYLS
LTPEQWRSRRSYSCQVMHEGSTVEKTVAPAECS

Sequence length

213

Interactions

View interactions

	KEGG		Reactome
	Primary immunodeficiency		Cell surface interactions at the vascular wall

211

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Agammaglobulinemia 2, autosomal recessive	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs1064418, rs753787644, rs374187217, rs765895465, rs1925262225, rs758735353, rs199906829, rs539240472, rs765704270, rs1924982404, rs2275975, rs747588803, rs146127121, rs111509516, rs776330273 View all (172 more)	RCV001320847 RCV001321968 RCV001326209 RCV001348904 RCV001338148 RCV001366721 RCV001363581 RCV001362233 RCV001373210 RCV001414131 RCV001401925 RCV001427811 RCV001429178 RCV001422470 RCV001451144 RCV001469528 RCV001452899 RCV001456253 RCV001474850 RCV001485655 RCV001490052 RCV001489123 RCV001487134 RCV001489104 RCV001488051 RCV001482815 RCV001510885 RCV001514133 RCV003629188 RCV003629195 RCV002025921 RCV001912707 RCV001928623 RCV001907950 RCV001875671 RCV002019493 RCV002019526 RCV001877447 RCV002013209 RCV001882035 RCV001889782 RCV001889783 RCV001896515 RCV001915842 RCV001884952 RCV002040372 RCV001945791 RCV001870186 RCV002037553 RCV002030113 RCV002044318 RCV001872357 RCV001902299 RCV001958282 RCV001984969 RCV001866903 RCV001948856 RCV002112086 RCV002177100 RCV002081677 RCV002134555 RCV002220739 RCV002089307 RCV002194390 RCV002173221 RCV002207213 RCV002139648 RCV002073904 RCV003062899 RCV003084123 RCV003069623 RCV003072443 RCV002574622 RCV003079967 RCV002633077 RCV002600830 RCV002600986 RCV002695511 RCV002715458 RCV002690242 RCV002801232 RCV002842195 RCV002856133 RCV002843312 RCV002872154 RCV002872009 RCV002872754 RCV002923251 RCV002937997 RCV002967227 RCV003005212 RCV003024306 RCV003053935 RCV003053812 RCV003056093 RCV000225003 RCV003228173 RCV003518113 RCV003518105 RCV003518227 RCV003516653 RCV003516658 RCV003516715 RCV003518729 RCV003516651 RCV003517833 RCV003517720 RCV003629345 RCV003629514 RCV003630377 RCV003630509 RCV000015948 RCV000015949 RCV003630493 RCV003630814 RCV003630850 RCV003631060 RCV003630985 RCV003628938 RCV003629055 RCV003628915 RCV003629859 RCV003630024 RCV003630085 RCV003629903 RCV003814593 RCV003816787 RCV003825939 RCV003832059 RCV003829155 RCV003849298 RCV003862504 RCV003876571 RCV000559039 RCV000507378 RCV000508166 RCV000576217 RCV000648331 RCV000576266 RCV000537497 RCV000540922 RCV000541740 RCV000531583 RCV000999822 RCV000527298 RCV000648332 RCV000648339 RCV000648337 RCV000648333 RCV000648335 RCV000648334 RCV000648338 RCV000648336 RCV000660488 RCV000698190 RCV000704395 RCV000703680 RCV000690740 RCV000693723 RCV000694322 RCV000689568 RCV000696415 RCV000699189 RCV000698315 RCV001089138 RCV000823104 RCV000797954 RCV000822124 RCV000797950 RCV000819393 RCV000806803 RCV000798723 RCV000953619 RCV000953773 RCV000960617 RCV000974711 RCV000972029 RCV000884813 RCV000884333 RCV000892964 RCV000893484 RCV000890845 RCV000895388 RCV001490550 RCV000920033 RCV000923973 RCV000931007 RCV001447957 RCV001465409 RCV001399387 RCV001067877 RCV001054027 RCV001047821 RCV001037338 RCV001050952 RCV001042822 RCV001218864 RCV001222823 RCV001208917 RCV001236269 RCV001239821 RCV001241262 RCV001240028 RCV001298932
Familial cancer of breast	Benign	rs201800585	RCV005900279
IGLL1-related condition	Conflicting classifications of pathogenicity; Uncertain significance	rs1064422, rs374565313, rs765603007	RCV004758593 RCV004758781 RCV004758784
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs74315491	RCV005887527

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agammaglobulinemia	Associate	39549297
Agammaglobulinemia non Bruton type	Associate	21039741
Amyotrophic Lateral Sclerosis	Stimulate	36982312
Ataxia Telangiectasia	Associate	9834238
Bruton type agammaglobulinemia	Associate	39549297
Carcinoma Hepatocellular	Associate	24278187
Carcinoma Squamous Cell	Associate	33907270
Colorectal Neoplasms	Associate	22970209
Leukemia Myeloid Acute	Associate	37409118
Lymphoma B Cell	Associate	14976526
Lymphoma Follicular	Associate	22102710
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	27611867
Primary Immunodeficiency Diseases	Associate	25502423
Prostatic Neoplasms	Associate	21345070, 22768240, 29775158
Pterygium	Associate	23872359
Pulmonary edema of mountaineers	Associate	40640242
Thyroid Neoplasms	Associate	26960768

IGLL1 (immunoglobulin lambda like polypeptide 1)