EFL1 (elongation factor like GTPase 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79631
Gene name Gene Name - the full gene name approved by the HGNC.
Elongation factor like GTPase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EFL1
Synonyms (NCBI Gene) Gene synonyms aliases
EFTUD1, FAM42A, HsT19294, RIA1, SDS2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SDS2
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q25.2
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs1316615934 A>T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs1441937959 T>C Likely-pathogenic 5 prime UTR variant, genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0003746 Function Translation elongation factor activity IEA
GO:0003924 Function GTPase activity IBA 21873635
GO:0003924 Function GTPase activity IDA 21536732
GO:0005525 Function GTP binding IEA
GO:0005829 Component Cytosol IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
617538 25789 ENSG00000140598
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q7Z2Z2
Protein name Elongation factor-like GTPase 1 (EC 3.6.5.-) (Elongation factor Tu GTP-binding domain-containing protein 1) (Elongation factor-like 1) (Protein FAM42A)
Protein function GTPase involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. Together with SBDS, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for tr
PDB 5ANB , 5ANC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00009 GTP_EFTU 17 → 365 Elongation factor Tu GTP binding domain Domain
PF14492 EFG_III 614 → 687 Elongation Factor G, domain III Domain
PF00679 EFG_C 979 → 1066 Elongation factor G C-terminus Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at low levels in brain. Expression is highly increased in glioma tissues. {ECO:0000269|PubMed:25015090}.
Sequence 
MVLNSLDKMIQLQKNTANIRNICVLAHVDHGKTTLADCLISSNGIISSRLAGKLRYMDSR
EDEQIRGITMKSSAISLHYATGNEEYLINLIDSPGHVDFSSEVSTAVRICDGCIIVVDAV
EGVCPQTQAVLRQAWLENIRPVLVINKIDRLIVELKFTPQEAYSHLKNILEQINALTGTL
FTSKVLEERAERETESQVNPNSEQGEQVYDWSTGLEDTDDSHLYFSPEQGNVVFTSAIDG
WGFGIEHFARIYSQKIGIKKEVLMKTLWGDYYINMKAKKIMKGDQAKGKKPLFVQLILEN
IWSLYDAVLKKDKDKIDKIVTSLGLKIGAREARHSDPKVQINAICSQWLPISHAVLAMVC
QKLPSPLDITAERVERLMCTGSQTFDSFPPETQALKAAFMKCGSEDTAPVIIFVSKMFAV
DAKALPQNKPRPLTQEEIAQRRERARQRHAEKLAAAQGQAPLEPTQDGSAIETCPKGEEP
RGDEQQVESMTPKPVLQEENNQESFIAFARVFSGVARRGKKIFVLGPKYSPLEFLRRVPL
GFSAPPDGLPQVPHMAYCALENLYLLMGRELEYLEEVPPGNVLGIGGLQDFVLKSATLCS
LPSCPPFIPLNFEATPIVRVAVEPKHPSEMPQLVKGMKLLNQADPCVQILIQETGEHVLV
TAGEVHLQRCLDDLKERFAKIHISVSEPIIPFRETITKPPKVDMVNEEIGKQQKVAVIHQ
MKEDQSKIPEGIQVDSDGLITITTPNKLATLSVRAMPLPEEVTQILEENSDLIRSMEQLT
SSLNEGENTHMIHQKTQEKIWEFKGKLEQHLTGRRWRNIVDQIWSFGPRKCGPNILVNKS
EDFQNSVWTGPADKASKEASRYRDLGNSIVSGFQLATLSGPMCEEPLMGVCFVLEKWDLS
KFEEQGASDLAKEGQEENETCSGGNENQELQDGCSEAFEKRTSQKGESPLTDCYGPFSGQ
LIATMKEACRYALQVKPQRLMAAMYTCDIMATGDVLGRVYAVLSKREGRVLQEEMKEGTD
MFIIKAVLPVAESFGFADEIRKRTSGLASPQLVFSHWEIIPSDPFWVPTTEEEYLHFGEK
ADSENQARKYMNAVRKRKGLYVEEKIVEHAEKQRTLSKNK
Sequence length 1120
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Ribosome biogenesis in eukaryotes  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (15)
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Normocytic anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Aplastic anemia Aplastic Anemia rs113993991, rs113993993, rs864309668, rs121908974, rs199422265, rs199422270, rs104894176, rs104894180, rs28933973, rs104894182, rs28933376, rs771552960, rs786205093, rs193302876, rs113993992
View all (104 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Diabetes mellitus Diabetes Mellitus, Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Show/Hide Unknown Diseases (5)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma ClinVar
Shwachman syndrome Shwachman syndrome, SHWACHMAN-DIAMOND SYNDROME 2 28331068, 29970384 ClinVar
Specific learning disorder Specific learning disability ClinVar
Shwachman-Diamond Syndrome Shwachman-Diamond syndrome GenCC
Show/Hide Text Mining Associations (8)
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 25736056
Carotid Stenosis Associate 20966410
Drug Related Side Effects and Adverse Reactions Stimulate 37992574
Glioma Associate 25015090
Intestinal Diseases Stimulate 37992574
Mitochondrial Diseases Associate 37992574
Pyle disease Associate 29970384
Shwachman Diamond Syndrome Associate 24406167, 25991726, 29970384