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LAGE3 - L antigen family member 3 Gene

Also Known as CVG5; ESO3; Pcc1; ITBA2; GAMOS2; DXS9879E; DXS9951E

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8270

About LAGE3

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,477,775-154,479,281 (from NCBI)

This gene has 1 transcript (splice variant), 174 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 8.7), adrenal (RPKM 6.8) and 25 other tissues.

Summary

This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the Other family members which are normally expressed only in testis and activated in a wide range of human tumors, this gene is ubiquitously expressed in somatic tissues. The latter, combined with the finding that it is highly conserved in mouse and rat, suggests that the encoded protein is functionally important. An intronless pseudogene with high sequence similarity to this gene is located on chromosome 9. [provided by RefSeq, Jul 2008]

LAGE3 Products (1)

mRNA	Protein	Name
NM_006014.5	NP_006005.2	EKC/KEOPS complex subunit LAGE3

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of EKC/KEOPS complex	IDA IDA: Inferred from direct assay	27903914	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	28805828	GOA
located in nucleus	IDA IDA: Inferred from direct assay	28805828	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LAGE3 Protein Structure

Pcc1

0
100
143 a.a.

Protein Preferred Names	Protein Names
EKC/KEOPS complex subunit LAGE3	protein ESO-3

LAGE3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	LAGE3	Q14657	KRT40	Homo sapiens	Q6A162	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	KRT40	Homo sapiens	Q6A162	Validated Y2H	32296183
Intra	LAGE3	Q14657	KRT40	Homo sapiens	Q6A162	Y2H Array	25416956
Intra	LAGE3	Q14657	KRT40	Homo sapiens	Q6A162	Y2H Array	32296183
Intra	LAGE3	Q14657	KRTAP10-8	Homo sapiens	P60410	Y2H Array	32296183
Intra	LAGE3	Q14657	KRTAP10-8	Homo sapiens	P60410	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	MID2	Homo sapiens	Q9UJV3-2	Y2H Array	32296183
Intra	LAGE3	Q14657	MID2	Homo sapiens	Q9UJV3-2	Validated Y2H	32296183
Intra	LAGE3	Q14657	MID2	Homo sapiens	Q9UJV3-2	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	OSGEP	Homo sapiens	Q9NPF4	Validated Y2H	32296183
Intra	LAGE3	Q14657	OSGEP	Homo sapiens	Q9NPF4	Anti Tag CoIP	33961781
Intra	LAGE3	Q14657	PLEKHJ1	Homo sapiens	Q9NW61	Validated Y2H	32296183
Intra	LAGE3	Q14657	PDE9A	Homo sapiens	O76083-2	Y2H Array	32296183
Intra	LAGE3	Q14657	PDE9A	Homo sapiens	O76083-2	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	KRTAP6-3	Homo sapiens	Q3LI67	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	KRTAP6-3	Homo sapiens	Q3LI67	Y2H Array	32296183
Intra	LAGE3	Q14657	MKRN3	Homo sapiens	Q13064	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	MKRN3	Homo sapiens	Q13064	Y2H Array	32296183
Intra	LAGE3	Q14657	MIPOL1	Homo sapiens	Q8TD10	Y2H Array	32296183
Intra	LAGE3	Q14657	MIPOL1	Homo sapiens	Q8TD10	Validated Y2H	32296183
Intra	LAGE3	Q14657	MIPOL1	Homo sapiens	Q8TD10	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	PNMA1	Homo sapiens	Q8ND90	Validated Y2H	32296183
Intra	LAGE3	Q14657	PNMA1	Homo sapiens	Q8ND90	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	PNMA1	Homo sapiens	Q8ND90	Y2H Array	32296183
Intra	LAGE3	Q14657	AKAP8L	Homo sapiens	Q9ULX6	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	AKAP8L	Homo sapiens	Q9ULX6	Validated Y2H	32296183
Intra	LAGE3	Q14657	AKAP8L	Homo sapiens	Q9ULX6	Y2H Array	32296183
Intra	LAGE3	Q14657	POP7	Homo sapiens	O75817	Y2H Array	32296183
Intra	LAGE3	Q14657	POP7	Homo sapiens	O75817	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	POP7	Homo sapiens	O75817	Anti Tag CoIP	33961781
Intra	LAGE3	Q14657	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	LAGE3	Q14657	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Array	32296183
Intra	LAGE3	Q14657	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	PSMB9	Homo sapiens	P28065	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	PSMB9	Homo sapiens	P28065	Y2H Array	32296183
Intra	LAGE3	Q14657	GON7	Homo sapiens	Q9BXV9	Validated Y2H	32296183
Intra	LAGE3	Q14657	GON7	Homo sapiens	Q9BXV9	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	GON7	Homo sapiens	Q9BXV9	Anti Tag CoIP	31481669
Intra	LAGE3	Q14657	GON7	Homo sapiens	Q9BXV9	SAXS	31481669
Intra	LAGE3	Q14657	GON7	Homo sapiens	Q9BXV9	Y2H Array	32296183
Intra	LAGE3	Q14657	GON7	Homo sapiens	Q9BXV9	Anti Tag CoIP	33961781
Intra	LAGE3	Q14657	HSF2BP	Homo sapiens	O75031	Y2H Array	32296183
Intra	LAGE3	Q14657	HSF2BP	Homo sapiens	O75031	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	TRIM27	Homo sapiens	P14373	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	TRIM27	Homo sapiens	P14373	Y2H Array	32296183
Intra	LAGE3	Q14657	TRIM23	Homo sapiens	P36406	Y2H Prey Pooling	32296183
Intra	LAGE3	Q14657	TRIM23	Homo sapiens	P36406	Y2H Array	32296183
Intra	LAGE3	Q14657	PDE9A	Homo sapiens	O76083	Y2H Prey Pooling	25416956
Intra	LAGE3	Q14657	PDE9A	Homo sapiens	O76083	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Galloway-Mowat Syndrome 2, X-Linked	GAMOS2
Galloway-Mowat Syndrome	Galloway Mowat Syndrome Galloway Syndrome Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type Microcephaly Nephrosis Syndrome Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Nephrosis Neuronal Dysmigration Syndrome Microcephaly-Hiatus Hernia-Nephrotic Syndrome Nephrosis-Neuronal Dysmigration Syndrome
Galloway-Mowat Syndrome 2
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Galloway-Mowat Syndrome 1	Galloway Syndrome Nephrosis-Neuronal Dysmigration Syndrome Nephrosis-Microcephaly Syndrome Camos Scar5 GAMOS1 Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Microcephaly, Hiatal Hernia And Nephrotic Syndrome Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly Scar5, Formerly Spinocerebellar Ataxia Autosomal Recessive 5 Cerebellar Ataxia With Intellectual Disability Optic Atrophy And Skin Abnormalities Camos Syndrome Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome Galloway-Mowat Syndrome Spinocerebellar Ataxia, Autosomal Recessive, 5 Galloway Mowat Syndrome Spinocerebellar Ataxia, Autosomal Recessive 5
Cerebellar Hypoplasia
Bladder Calculus	Urinary Bladder Calculi Urinary Bladder Stone Bladder Calculi Bladder Stone Urinary Bladder Calculus Vesical Calculi Vesical Calculus Vesicolithiasis Cystolithiasis Cystic Calculi Cystic Calculus
Polymicrogyria	Pmg
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Lower Urinary Tract Calculus	Calculus Of Lower Urinary Tract
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07493	LAGE3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	LAGE3	MGD	MGI:1913442
Rattus norvegicus	LAGE3	RGD	RGD:1562476
Others	LAGE3	NCBI