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EFL1 - elongation factor like GTPase 1 Gene

Also Known as RIA1; SDS2; EFTUD1; FAM42A; HsT19294

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79631

About EFL1

Cytogenetic location: 15q25.2 Genomic coordinates (GRCh38): 15:82,130,233-82,262,734 (from NCBI)

This gene has 17 transcripts (splice variants), 219 orthologues, 18 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 7.4), small intestine (RPKM 6.4) and 25 other tissues.

Summary

Enables GTPase activity and ribosome binding activity. Involved in GTP metabolic process and mature ribosome assembly. Predicted to be part of ribonucleoprotein complex. Implicated in Shwachman-Diamond syndrome. [provided by Alliance of Genome Resources, Apr 2022]

EFL1 Products (4)

mRNA	Protein	Name
NM_001040610.3	NP_001035700.1	elongation factor-like GTPase 1 isoform 2
NM_001322844.2	NP_001309773.1	elongation factor-like GTPase 1 isoform 3
NM_001322845.2	NP_001309774.1	elongation factor-like GTPase 1 isoform 1
NM_024580.6	NP_078856.4	elongation factor-like GTPase 1 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables GTPase activity	IDA IDA: Inferred from direct assay	21536732	GOA
enables ribosome binding	IMP IMP: Inferred from mutant phenotype	21536732	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in GTP metabolic process	IDA IDA: Inferred from direct assay	21536732	GOA
involved in cytosolic ribosome assembly	IMP IMP: Inferred from mutant phenotype	21536732	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

EFL1 Protein Structure

GTP_EFTU

GTP_EFTU_D2

EFG_II

EFG_C

0
200
400
600
800
1000
1120 a.a.

Protein Preferred Names	Protein Names
elongation factor-like GTPase 1	elongation factor Tu GTP binding domain containing 1

Related Diseases

Diseases	Alias
Shwachman-Diamond Syndrome 2	SDS2
Shwachman-Diamond Syndrome 1	Shwachman-Diamond Syndrome Shwachman Syndrome Shwachman-Bodian-Diamond Syndrome Sds Pancreatic Insufficiency And Bone Marrow Dysfunction Shwachman-Bodian Syndrome SDS1 Lipomatosis Of Pancreas, Congenital Congenital Lipomatosis Of Pancreas Shwachman-Diamond Type Metaphyseal Dysplasia Metaphyseal Chondrodysplasia, Shwachman Type Shwachman-Diamond-Oski Syndrome
Exocrine Pancreatic Insufficiency
Metaphyseal Dysplasia	Bakwin-Krida Syndrome Pyle'S Disease Pyle-Cohn Syndrome
Trichothiodystrophy 4, Nonphotosensitive	Amish Brittle Hair Brain Syndrome TTD4 Trichothiodystrophy, Nonphotosensitive 1 Hair-Brain Syndrome Bids Syndrome Ttdn1 Abhs Pollitt Syndrome Trichothiodystrophy-Neurocutaneous Syndrome Nonphotosensitive Trichothiodystrophy 4 Trichorrhexis Nodosa Syndrome Trichothiodystrophy 4, Non-Photosensitive Trichothiodystrophy Non-Photosensitive 1
Spondylometaphyseal Dysplasia, Corner Fracture Type	SMDCF Spondylometaphyseal Dysplasia, Sutcliffe Type Spondylometaphyseal Dysplasia Corner Fracture Type Spondylometaphyseal Dysplasia, 'Corner Fracture' Type Spondylometaphyseal Dysplasia Sutcliffe Type Sutcliffe Type Of Spondylometaphyseal Dysplasia Spondylometaphyseal Dysplasia - Sutcliffe Type Smd, Corner Fractures Type Smd, Sutcliffe Type Sutcliffe Smd Dysplasia, Spondylometaphyseal, Corner Fracture Type
Trichothiodystrophy 1, Photosensitive	TTD1 Tay Syndrome Trichothiodystrophy With Congenital Ichthyosis Photosensitive Trichothiodystrophy Ibids Syndrome Ttdp Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation Ichthyosis, Congenital, With Trichothiodystrophy Pibids Syndrome Photosensitive Trichothiodystrophy 1 Trichothiodystrophy, Photosensitive Sulfur-Deficient Brittle Hair Syndrome Ttd-P Ichthyosis With Brittle Hair, Intellectual Impairment, Decreased Fertility And Short Stature Trichothiodystrophy Photosensitive Trichothiodystrophy, Type 1 Tricho-Thiodystrophy Disorder Trichothiodystrophy Syndromes Amish Brittle Hair Brain Syndrome
Pancytopenia
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Anauxetic Dysplasia 1	Anauxetic Dysplasia Spondylometaepiphyseal Dysplasia, Menger Type Spondylometaepiphyseal Dysplasia, Anauxetic Type Spondyloepimetaphyseal Dysplasia, Anauxetic Type ANXD1 Anxd Spondylometaepiphyseal Dysplasia Anauxetic Type Spondylometaepiphyseal Dysplasia Menger Type Ad Spondyloepimetaphyseal Dysplasia, Menger Type Dysplasia, Anauxetic, Type 1
Diamond-Blackfan Anemia	Congenital Pure Red Cell Aplasia Aase Syndrome Erythrogenesis Imperfecta Anemia, Diamond-Blackfan Congenital Hypoplastic Anemia Aase-Smith Ii Syndrome Bds Blackfan-Diamond Anemia Congenital Prca Congenital Hypoplastic Anemia, Blackfan-Diamond Type Dba Blackfan - Diamond Syndrome Chronic Constitutional Pure Red Cell Anaemia Anemia Diamond Blackfan Type Anemia Congenital Erythroid Hypoplastic Aregenerative Anemia Chronic Congenital Blackfan Diamond Syndrome Red Cell Aplasia, Pure Hereditary Aase-Smith Syndrome Ii Bda Blackfan Diamond Anemia Blackfan-Diamond Disease Blackfan-Diamond Syndrome Chronic Congenital Agenerative Anemia Congenital Erythroid Hypoplastic Anemia Congenital Hypoplastic Anemia Of Blackfan And Diamond Congenital Pure Red Cell Anemia Hypoplastic Congenital Anemia Inherited Erythroblastopenia Pure Hereditary Red Cell Aplasia Anemia, Hypoplastic, Congenital Anemia Hypoplastic Congenital Fanconi Anemia Constitutional Aplastic Anemia Diamond-Blackfan Anemia 1 Aase Smith Syndrome 2 Congenital Red Cell Aplasia Red Cell Aplasia Of Infants Pure Red Cell Aplasia Of Infants Congenital Red Cell Aplastic Anaemia Congenital Pure Red Cell Anaemia Congenital Erythroid Hypoplasia Pearson Marrow-Pancreas Syndrome

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04191	EFL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04192	EFNA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17656	Efna1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	EFL1	VGNC	VGNC:61747
Rattus norvegicus	EFL1	RGD	RGD:1306521
Canis familiaris	EFL1	VGNC	VGNC:40225
Mus musculus	EFL1	MGD	MGI:2141969
Macaca mulatta	EFL1	VGNC	VGNC:72112
Bos taurus	EFL1	VGNC	VGNC:28354