Entity Details

Primary name EFL1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ7Z2Z2
EntryNameEFL1_HUMAN
FullNameElongation factor-like GTPase 1
TaxID9606
Evidenceevidence at protein level
Length1120
SequenceStatuscomplete
DateCreated2008-01-15
DateModified2021-06-02

Ontological Relatives

GenesEFL1

GO terms

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GOName
GO:0003746 translation elongation factor activity
GO:0003924 GTPase activity
GO:0005525 GTP binding
GO:0042256 mature ribosome assembly
GO:0043022 ribosome binding
GO:0046039 GTP metabolic process
GO:1990904 ribonucleoprotein complex

Subcellular Location

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Domains

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DomainNameCategoryType
IPR000640 Elongation factor EFG, domain V-likeDomainDomain
IPR000795 Translational (tr)-type GTP-binding domainDomainDomain
IPR005225 Small GTP-binding protein domainDomainDomain
IPR009000 Translation protein, beta-barrel domain superfamilyFamilyHomologous superfamily
IPR014721 Ribosomal protein S5 domain 2-type fold, subgroupFamilyHomologous superfamily
IPR020568 Ribosomal protein S5 domain 2-type foldFamilyHomologous superfamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR035647 EF-G domain III/V-likeFamilyHomologous superfamily
IPR041095 Elongation Factor G, domain IIDomainDomain

Diseases

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Disease IDSourceNameDescription
617941 OMIMShwachman-Diamond syndrome 2 (SDS2)A form of Shwachman-Diamond syndrome, a disorder characterized by hematopoietic abnormalities, exocrine pancreatic dysfunction, and skeletal dysplasia. Intermittent or chronic neutropenia is the most common hematological manifestation, followed by anemia and thrombocytopenia. Some patients progress to bone marrow failure, myelodysplastic syndrome and malignant transformation, with acute myelogenous leukemia being the most common. Exocrine pancreatic dysfunction is generally the first presenting symptom in infancy. Short stature and metaphyseal dysplasia are the most frequent skeletal manifestations. SDS2 inheritance is autosomal recessive. The disease may be caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB02750 S-(Methylmercury)-L-CysteineDrugbanksmall molecule
DB03619 Deoxycholic acidDrugbanksmall molecule
DB04315 Guanosine-5'-DiphosphateDrugbanksmall molecule

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
EFL1_HUMANSBDS_HUMANBioGRID, IntAct26344197 30545121 details