EFL1 - elongation factor like GTPase 1 Gene

Homo sapiens

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

Gene ID: 79631 | Gene type: protein coding

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	Reference	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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04191	EFL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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