EEFSEC

Protein identityUniProt · HPA

UniProt accession

P57772

Gene

EEFSEC

Ensembl

ENSG00000132394

Chromosome

3

Canonical length

596 aa

Protein class

Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nuclear bodies,Cytosol

OverviewNCBI Gene

Enables GTPase activity. Involved in selenocysteine incorporation. Predicted to be located in cytoplasm and nucleus. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

596 residues, UniProt reviewed canonical sequence.

>P57772|EEFSEC
     1  MAGRRVNVNV GVLGHIDSGK TALARALSTT ASTAAFDKQP QSRERGITLD LGFSCFSVPL
    61  PARLRSSLPE FQAAPEAEPE PGEPLLQVTL VDCPGHASLI RTIIGGAQII DLMMLVIDVT
   121  KGMQTQSAEC LVIGQIACQK LVVVLNKIDL LPEGKRQAAI DKMTKKMQKT LENTKFRGAP
   181  IIPVAAKPGG PEAPETEAPQ GIPELIELLT SQISIPTRDP SGPFLMSVDH CFSIKGQGTV
   241  MTGTILSGSI SLGDSVEIPA LKVVKKVKSM QMFHMPITSA MQGDRLGICV TQFDPKLLER
   301  GLVCAPESLH TVHAALISVE KIPYFRGPLQ TKAKFHITVG HETVMGRLMF FSPAPDNFDQ
   361  EPILDSFNFS QEYLFQEQYL SKDLTPAVTD NDEADKKAGQ ATEGHCPRQQ WALVEFEKPV
   421  TCPRLCLVIG SRLDADIHTN TCRLAFHGIL LHGLEDRNYA DSFLPRLKVY KLKHKHGLVE
   481  RAMDDYSVIG RSLFKKETNI QLFVGLKVHL STGELGIIDS AFGQSGKFKI HIPGGLSPES
   541  KKILTPALKK RARAGRGEAT RQEESAERSE PSQHVVLSLT FKRYVFDTHK RMVQSP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EEFSEC can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.3

Highest tissue expression

24 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EEFSEC.

Disease | AllUniProt

Conditions EEFSEC is implicated in, by any mechanism.

• Neurodevelopmental disorder with progressive spasticity and brain abnormalities (NEDPSB) MIM:621102

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 126 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurodevelopmental disorder with progressive spasticity and brain abnormalities
• Autosomal recessive non-syndromic intellectual disability
• Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.18

gnomAD pLI

0

gnomAD missense Z

0.63

DepMap mean gene effect

-0.52

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• selenocysteine incorporation

Molecular functions

• GTP binding
• GTPase activity
• ribonucleoprotein complex binding
• selenocysteine insertion sequence binding
• translation elongation factor activity
• tRNA binding

Cellular components

• cytoplasm
• nucleus
• ribonucleoprotein complex

Protein domainsUniProt · Pfam · InterPro

• Translational (tr)-type GTP-binding domain
• Translation elongation factor EFTu-like, domain 2
• Translation protein, beta-barrel domain superfamily
• P-loop containing nucleoside triphosphate hydrolase
• Elongation factor Tu GTPase
• Elongation factor Tu GTP binding domain
• Elongation factor Tu domain 2
• Selenocysteine-specific elongation factor, 3rd domain
• Selenocysteine-specific elongation factor, C-terminal RIFT domain
• eEFSec C-terminal RIFT domain
• Selenocysteine-specific elongation factor, eukaryotes, 3rd domain

KeywordsUniProt

• Cytoplasm
• GTP-binding
• Hydrolase
• Intellectual disability
• Methylation
• Neurodegeneration
• Nucleotide-binding
• Nucleus
• Phosphoprotein
• Protein biosynthesis