EIF2B1 - eukaryotic translation initiation factor 2B subunit alpha Gene

Also Known as EIF2B; EIF2BA; EIF2Balpha

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1967

About EIF2B1

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:123,620,406-123,633,686 (from NCBI)

This gene has 6 transcripts (splice variants), 222 orthologues, 3 paralogues and is associated with 6 phenotypes. Ubiquitous expression in lymph node (RPKM 22.1), skin (RPKM 20.5) and 25 other tissues.

Summary

This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding Other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Oct 2009]

EIF2B1 Products (1)

mRNA	Protein	Name
NM_001414.4	NP_001405.1	translation initiation factor eIF-2B subunit alpha

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
contributes to guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	11323413	GOA
enables guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	25858979	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9235896	GOA
contributes to translation initiation factor activity	IDA IDA: Inferred from direct assay	16289705	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in T cell receptor signaling pathway	IDA IDA: Inferred from direct assay	8626696	GOA
involved in cytoplasmic translational initiation	IDA IDA: Inferred from direct assay	27023709	GOA
involved in oligodendrocyte development	IMP IMP: Inferred from mutant phenotype	15217090	GOA
involved in translational initiation	IDA IDA: Inferred from direct assay	16289705	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	9235896	GOA
part of eukaryotic translation initiation factor 2B complex	IDA IDA: Inferred from direct assay	11323413	GOA
located in membrane	IDA IDA: Inferred from direct assay	9235896	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	9235896	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

EIF2B1 Protein Structure

IF-2B

0
100
200
305 a.a.

Protein Preferred Names	Protein Names
translation initiation factor eIF-2B subunit alpha	eIF-2B GDP-GTP exchange factor subunit alpha

EIF2B1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	EIF2B1	Q14232	UBE2I	Homo sapiens	Q7KZS0	Y2H Array	32296183
Intra	EIF2B1	Q14232	UBE2I	Homo sapiens	Q7KZS0	Y2H Prey Pooling	32296183
Intra	EIF2B1	Q14232	UBE2I	Homo sapiens	Q7KZS0	Validated Y2H	32296183
Intra	EIF2B1	Q14232	RD3	Homo sapiens	Q7Z3Z2	Y2H Prey Pooling	32296183
Intra	EIF2B1	Q14232	RD3	Homo sapiens	Q7Z3Z2	Validated Y2H	32296183
Intra	EIF2B1	Q14232	RD3	Homo sapiens	Q7Z3Z2	Y2H Array	25416956
Intra	EIF2B1	Q14232	RD3	Homo sapiens	Q7Z3Z2	Y2H Array	32296183
Intra	EIF2B1	Q14232	RD3	Homo sapiens	Q7Z3Z2	Y2H Array	31515488
Intra	EIF2B1	Q14232	TRIM59	Homo sapiens	Q8IWR1	Y2H Prey Pooling	32296183
Intra	EIF2B1	Q14232	TRIM59	Homo sapiens	Q8IWR1	Y2H Array	32296183
Intra	EIF2B1	Q14232	TRIM59	Homo sapiens	Q8IWR1	Validated Y2H	32296183
Intra	EIF2B1	Q14232	TRIML2	Homo sapiens	Q8N7C3	Validated Y2H	32296183
Intra	EIF2B1	Q14232	C1orf50	Homo sapiens	Q9BV19	Validated Y2H	32296183
Intra	EIF2B1	Q14232	C1orf50	Homo sapiens	Q9BV19	Y2H Prey Pooling	32296183
Intra	EIF2B1	Q14232	C1orf50	Homo sapiens	Q9BV19	Y2H Array	32296183
Intra	EIF2B1	Q14232	MED29	Homo sapiens	Q9NX70	Y2H Prey Pooling	32296183
Intra	EIF2B1	Q14232	MED29	Homo sapiens	Q9NX70	Validated Y2H	32296183
Intra	EIF2B1	Q14232	MED29	Homo sapiens	Q9NX70	Y2H Array	32296183
Intra	EIF2B1	Q14232	EIF2B1	Homo sapiens	Q14232	Y2H Array	25416956
Intra	EIF2B1	Q14232	EIF2B1	Homo sapiens	Q14232	Y2H Array	25502805
Intra	EIF2B1	Q14232	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	25416956
Intra	EIF2B1	Q14232	EIF2B1	Homo sapiens	Q14232	Y2H Array	32296183
Intra	EIF2B1	Q14232	NTAQ1	Homo sapiens	Q96HA8	Y2H Array	31515488
Intra	EIF2B1	Q14232	NTAQ1	Homo sapiens	Q96HA8	Y2H Prey Pooling	25416956
Intra	EIF2B1	Q14232	EIF2B3	Homo sapiens	Q9NR50	Anti Bait CoIP	17353931
Intra	EIF2B1	Q14232	EIF2B1	Homo sapiens	Q14232	Y2H Prey Pooling	32296183
Intra	EIF2B1	Q14232	GORASP2	Homo sapiens	Q9H8Y8	Y2H Array	31515488
Intra	EIF2B1	Q14232	EIF2B3	Homo sapiens	Q9NR50	GMS	29599245
Intra	EIF2B1	Q14232	EIF2B3	Homo sapiens	Q9NR50	3D-EM	29599245
Intra	EIF2B1	Q14232	EIF2B1	Homo sapiens	Q14232	Y2H Array	31515488
Intra	EIF2B1	Q14232	GORASP2	Homo sapiens	Q9H8Y8	Validated Y2H	32296183
Intra	EIF2B1	Q14232	EIF2B3	Homo sapiens	Q9NR50	Anti Tag CoIP	33961781
Intra	EIF2B1	Q14232	EIF2B3	Homo sapiens	Q9NR50	Anti Tag CoIP	28514442
Intra	EIF2B1	Q14232	GORASP2	Homo sapiens	Q9H8Y8	Y2H Array	29892012
Intra	EIF2B1	Q14232	EIF2B1	Homo sapiens	Q14232	Validated Y2H	32296183
Cross	EIF2B1	Q14232	Adra2a	Mus musculus	Q01338	Y2H	9235896
Cross	EIF2B1	Q14232	Adra2a	Mus musculus	Q01338	Pull Down	9235896
Cross	EIF2B1	Q14232	Adra2b	Mus musculus	P30545	Pull Down	9235896
Cross	EIF2B1	Q14232	Adra2b	Mus musculus	P30545	Y2H	9235896
Intra	EIF2B1	Q14232	ATF5	Homo sapiens	Q9Y2D1	Y2H Prey Pooling	32296183
Intra	EIF2B1	Q14232	ATF5	Homo sapiens	Q9Y2D1	Validated Y2H	32296183
Intra	EIF2B1	Q14232	ATF5	Homo sapiens	Q9Y2D1	Y2H Array	32296183
Intra	EIF2B1	Q14232	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Leukoencephalopathy With Vanishing White Matter	Cree Leukoencephalopathy Vanishing White Matter Disease Ovarioleukodystrophy Vanishing White Matter Leukodystrophy Childhood Ataxia With Central Nervous System Hypomyelinization Cach Cach Syndrome Myelinosis Centralis Diffusa VWM Cle Childhood Ataxia With Central Nervous System Hypomyelination Childhood Ataxia With Diffuse Central Nervous System Hypomyelination Cach/Vwm Cach/Vwm Syndrome Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter Cree Leukoencehalopathy Late Infantile Cach Syndrome Juvenile Or Adult Cach Syndrome Congenital Or Early Infantile Cach Syndrome Leukodystrophy With Vanishing White Matter
Childhood Ataxia With Central Nervous System Hypomyelination / Vanishing White Matter	Cach/Vwm Leukoencephalopathy With Vanishing White Matter
Leukodystrophy	Leukodystrophies
Megalencephalic Leukoencephalopathy With Subcortical Cysts 1	Van Der Knaap Disease Leukoencephalopathy With Swelling And Cysts MLC1 Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts Lvm Vl Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 1 Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 1 Megalencephalic Leukoencephalopathy With Subcortical Cysts
Type 1 Diabetes Mellitus 22	Diabetes Mellitus, Insulin-Dependent, 22 IDDM22 T1D22 Insulin-Dependent Diabetes Mellitus 22 Diabetes Mellitus, Insulin-Dependent, Type 22
Combined Saposin Deficiency	Encephalopathy Due To Prosaposin Deficiency Combined Sap Deficiency PSAPD Prosaposin Deficiency Combined Prosaposin Deficiency CSAPD Saposin Deficiency, Combined
Spastic Ataxia 4
Leukodystrophy, Hypomyelinating, 12	Hypomyelinating Leukodystrophy 12 HLD12 Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy Vps11-Related Autosomal Recessive Hypomyelinating Leukoencephalopathy
Hemangioma Of Intra-Abdominal Structure	Hemangioma Of Intra-Abdominal Structures Hemangioma, Intra-Abdominal
Cerebral Degeneration	Brain Degeneration Degenerative Brain Disorder
Leukodystrophy, Hypomyelinating, 6	Habc Hypomyelinating Leukodystrophy 6 HLD6 H-Abc Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum HLD Leukodystrophy, Hypomyelinating, Type 6
Megalencephalic Leukoencephalopathy With Subcortical Cysts	Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts Mlc Van Der Knaap Disease Lvm Leukoencephalopathy With Swelling And Cysts Megalencephaly-Cystic Leukodystrophy Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome Infantile Leukoencephalopathy And Megalencephaly Leukoencephalopathy With Swelling And A Discrepantly Mild Course Vacuolating Leukoencephalopathy Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystrophy Syndrome Van Der Knaap Syndrome Leukoencephalopathy, Megalencephalic, With Subcortical Cysts
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Pcwh Syndrome PCWH Neurologic Waardenburg-Shah Syndrome Waardenburg-Shah Syndrome, Neurologic Variant Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease Ws4 Plus Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease Waardenburg-Shah Syndrome Neurologic Variant
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating

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)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS04248	EIF2B1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	EIF2B1	VGNC	VGNC:61773
Rattus norvegicus	EIF2B1	RGD	RGD:620819
Macaca mulatta	EIF2B1	VGNC	VGNC:72182
Bos taurus	EIF2B1	VGNC	VGNC:28384
Canis familiaris	EIF2B1	VGNC	VGNC:40260
Mus musculus	EIF2B1	MGD	MGI:2384802
Others	EIF2B1	NCBI