Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79631
Gene name	Elongation factor like GTPase 1
Gene symbol	EFL1
Synonyms (NCBI Gene)	EFTUD1FAM42AHsT19294RIA1SDS2
Chromosome	15
Chromosome location	15q25.2

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

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003746	Function	Translation elongation factor activity	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IDA	21536732
GO:0003924	Function	GTPase activity	IEA
GO:0005515	Function	Protein binding	IPI	30545121, 39251607
GO:0005525	Function	GTP binding	IEA
GO:0005829	Component	Cytosol	IBA
GO:0006412	Process	Translation	IEA
GO:0006414	Process	Translational elongation	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0042256	Process	Cytosolic ribosome assembly	IBA
GO:0042256	Process	Cytosolic ribosome assembly	IEA
GO:0042256	Process	Cytosolic ribosome assembly	IMP	21536732
GO:0043022	Function	Ribosome binding	IBA
GO:0043022	Function	Ribosome binding	IMP	21536732
GO:0046039	Process	GTP metabolic process	IDA	21536732
GO:1990904	Component	Ribonucleoprotein complex	IBA

MIM	HGNC	e!Ensembl
617538	25789	ENSG00000140598

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

	KEGG
	Ribosome biogenesis in eukaryotes

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Shwachman syndrome	Likely pathogenic	rs1330065864, rs763132789, rs756494164, rs370108445	RCV005254037 RCV005254038 RCV005254039 RCV005254040
Shwachman-Diamond syndrome 2	Likely pathogenic; Pathogenic	rs1330065864, rs763132789, rs2141228362, rs756494164, rs1380341628, rs370108445	RCV002248311 RCV002248312 RCV002248313 RCV002248314 RCV002248315 RCV002248316

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Uncertain significance	rs200883252	RCV005911053
Clear cell carcinoma of kidney	Benign	rs115974511	RCV005908641
EFL1-related disorder	Likely benign; Benign; Uncertain significance	rs199737384, rs374087805, rs78664413, rs4725, rs2292071, rs1128431, rs377206914, rs201679284, rs201517223, rs369620042, rs761306150, rs149883651, rs377357859, rs755280310, rs955621188 View all (12 more)	RCV003938724 RCV003965999 RCV003921086 RCV003980527 RCV003980554 RCV003983939 RCV003948493 RCV003931117 RCV003951067 RCV003933472 RCV003970873 RCV003978560 RCV003971059 RCV003909078 RCV003981487 RCV003983315 RCV003902219 RCV003944377 RCV003936096 RCV003936097 RCV003958000 RCV003895446 RCV003930472 RCV003913002 RCV003922911 RCV003895564 RCV003903038
Immunodeficiency	Uncertain significance	rs1595945072	RCV001007939

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

EFL1 (elongation factor like GTPase 1)