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Aliases for SEPSECS Gene

Aliases for SEPSECS Gene

  • Sep (O-Phosphoserine) TRNA:Sec (Selenocysteine) TRNA Synthase 2 3 5
  • Soluble Liver Antigen/Liver Pancreas Antigen 2 3
  • TRNA(Ser/Sec)-Associated Antigenic Protein 3 4
  • UGA Suppressor TRNA-Associated Protein 3 4
  • Liver-Pancreas Antigen 3 4
  • Soluble Liver Antigen 3 4
  • SLA/LP Autoantigen 3 4
  • SLA-P35 3 4
  • SLA 3 4
  • LP 3 4
  • Selenocysteinyl-TRNA(Sec) Synthase 4
  • Sep-TRNA:Sec-TRNA Synthase 4
  • Selenocysteine Synthase 4
  • Sec Synthase 4
  • EC 2.9.1.n1 63
  • EC 2.9.1.2 4
  • SepSecS 4
  • SLA/LP 3
  • TRNP48 4
  • PCH2D 3

External Ids for SEPSECS Gene

Previous GeneCards Identifiers for SEPSECS Gene

  • GC04M024730
  • GC04M024462

Summaries for SEPSECS Gene

Entrez Gene Summary for SEPSECS Gene

  • The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino acid is synthesized on its cognate tRNA in a three step process. The protein encoded by this gene catalyzes the third step in the process, the conversion of O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec).[provided by RefSeq, Mar 2011]

GeneCards Summary for SEPSECS Gene

SEPSECS (Sep (O-Phosphoserine) TRNA:Sec (Selenocysteine) TRNA Synthase) is a Protein Coding gene. Diseases associated with SEPSECS include pontocerebellar hypoplasia type 2d and pontocerebellar hypoplasia, type 2e. Among its related pathways are tRNA Aminoacylation and Selenocompound metabolism. GO annotations related to this gene include transferase activity and tRNA binding.

UniProtKB/Swiss-Prot for SEPSECS Gene

  • Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec) required for selenoprotein biosynthesis.

Gene Wiki entry for SEPSECS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEPSECS Gene

Genomics for SEPSECS Gene

Regulatory Elements for SEPSECS Gene

Enhancers for SEPSECS Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SEPSECS on UCSC Golden Path with GeneCards custom track

Promoters for SEPSECS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SEPSECS on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SEPSECS gene promoter:

Genomic Location for SEPSECS Gene

Chromosome:
4
Start:
25,120,005 bp from pter
End:
25,160,582 bp from pter
Size:
40,578 bases
Orientation:
Minus strand

Genomic View for SEPSECS Gene

Genes around SEPSECS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPSECS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPSECS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPSECS Gene

Proteins for SEPSECS Gene

  • Protein details for SEPSECS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HD40-SPCS_HUMAN
    Recommended name:
    O-phosphoseryl-tRNA(Sec) selenium transferase
    Protein Accession:
    Q9HD40
    Secondary Accessions:
    • A8K8W1
    • Q0D2P3
    • Q17RT1
    • Q9NXZ5
    • Q9UGM9
    • Q9Y353

    Protein attributes for SEPSECS Gene

    Size:
    501 amino acids
    Molecular mass:
    55726 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homotetramer formed by a catalytic dimer and a non-catalytic dimer serving as a binding platform that orients tRNASec for catalysis. Each tetramer binds the CCA ends of two tRNAs which point to the active sites of the catalytic dimer.
    Miscellaneous:
    • Possible diagnostic marker for autoimmune hepatitis (AIH).
    SequenceCaution:
    • Sequence=AAD33963.2; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=AAH23539.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=CAB62209.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAB89517.1; Type=Frameshift; Positions=39; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SEPSECS Gene

    Alternative splice isoforms for SEPSECS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPSECS Gene

Proteomics data for SEPSECS Gene at MOPED

Post-translational modifications for SEPSECS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SEPSECS Gene

Antibody Products

Domains & Families for SEPSECS Gene

Suggested Antigen Peptide Sequences for SEPSECS Gene

Graphical View of Domain Structure for InterPro Entry

Q9HD40

UniProtKB/Swiss-Prot:

SPCS_HUMAN :
  • Belongs to the SepSecS family.
Family:
  • Belongs to the SepSecS family.
genes like me logo Genes that share domains with SEPSECS: view

No data available for Gene Families for SEPSECS Gene

Function for SEPSECS Gene

Molecular function for SEPSECS Gene

UniProtKB/Swiss-Prot CatalyticActivity:
O-phospho-L-seryl-tRNA(Sec) + selenophosphate + H(2)O = L-selenocysteinyl-tRNA(Sec) + 2 phosphate.
UniProtKB/Swiss-Prot Function:
Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec) required for selenoprotein biosynthesis.

Enzyme Numbers (IUBMB) for SEPSECS Gene

Gene Ontology (GO) - Molecular Function for SEPSECS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22190034
GO:0098621 phosphoseryl-selenocysteinyl-tRNA selenium transferase activity TAS --
genes like me logo Genes that share ontologies with SEPSECS: view

Phenotypes for SEPSECS Gene

GenomeRNAi human phenotypes for SEPSECS:
genes like me logo Genes that share phenotypes with SEPSECS: view

Human Phenotype Ontology for SEPSECS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for SEPSECS Gene

Localization for SEPSECS Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPSECS Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SEPSECS Gene COMPARTMENTS Subcellular localization image for SEPSECS gene
Compartment Confidence
cytosol 5
nucleus 4
mitochondrion 3
endoplasmic reticulum 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for SEPSECS Gene

Pathways & Interactions for SEPSECS Gene

genes like me logo Genes that share pathways with SEPSECS: view

Pathways by source for SEPSECS Gene

UniProtKB/Swiss-Prot Q9HD40-SPCS_HUMAN

  • Pathway: Aminoacyl-tRNA biosynthesis; selenocysteinyl-tRNA(Sec) biosynthesis; selenocysteinyl-tRNA(Sec) from L-seryl-tRNA(Sec) (archaeal/eukaryal route): step 2/2.

Gene Ontology (GO) - Biological Process for SEPSECS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with SEPSECS: view

No data available for SIGNOR curated interactions for SEPSECS Gene

Drugs & Compounds for SEPSECS Gene

(7) Drugs for SEPSECS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Selenocysteine Experimental Pharma 0
Pyridoxal Phosphate Nutra Target, cofactor 14
Selenium Pharma 168

(6) Additional Compounds for SEPSECS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Selenophosphate
  • Dihydroxy-oxido-selanylidenephosphorane
  • Phosphorus monoselenide
  • Phosphorus selenide (PSe)
  • Selenoxo-phosphino
289702-60-9
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Phosphoroselenoic acid
  • Monoselenophosphoric acid
  • Selenophosphoric acid
  • SePO3
  • Trihydroxidoselenidophosphorus
  • [P(OH)3Se]
25758-66-1
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with SEPSECS: view

Transcripts for SEPSECS Gene

Unigene Clusters for SEPSECS Gene

Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SEPSECS Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - - - -
SP5: -
SP6:

Relevant External Links for SEPSECS Gene

GeneLoc Exon Structure for
SEPSECS
ECgene alternative splicing isoforms for
SEPSECS

Expression for SEPSECS Gene

mRNA expression in normal human tissues for SEPSECS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SEPSECS Gene

This gene is overexpressed in Liver (x4.1).

Protein differential expression in normal tissues from HIPED for SEPSECS Gene

This gene is overexpressed in Testis (21.8), Peripheral blood mononuclear cells (10.9), and Liver (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SEPSECS Gene



SOURCE GeneReport for Unigene cluster for SEPSECS Gene Hs.253305

mRNA Expression by UniProt/SwissProt for SEPSECS Gene

Q9HD40-SPCS_HUMAN
Tissue specificity: Primarily expressed in liver, pancreas, kidney and lung. Overexpressed in PHA-stimulated T-cells.
genes like me logo Genes that share expression patterns with SEPSECS: view

Protein tissue co-expression partners for SEPSECS Gene

Primer Products

In Situ Assay Products

Orthologs for SEPSECS Gene

This gene was present in the common ancestor of animals.

Orthologs for SEPSECS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SEPSECS 35
  • 94 (n)
  • 94.8 (a)
SEPSECS 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEPSECS 35
  • 92.47 (n)
  • 93.2 (a)
SEPSECS 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sepsecs 35
  • 86.65 (n)
  • 88.33 (a)
Sepsecs 16
Sepsecs 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SEPSECS 35
  • 99.73 (n)
  • 99.6 (a)
SEPSECS 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sepsecs 35
  • 87.47 (n)
  • 88.82 (a)
oppossum
(Monodelphis domestica)
Mammalia SEPSECS 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 72 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
chicken
(Gallus gallus)
Aves SEPSECS 35
  • 80.08 (n)
  • 84.02 (a)
SEPSECS 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEPSECS 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sepsecs 35
  • 72.36 (n)
  • 78.66 (a)
zebrafish
(Danio rerio)
Actinopterygii sepsecs 35
  • 70.49 (n)
  • 75.83 (a)
zgc55980 35
sepsecs 36
  • 74 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003527 35
  • 51.28 (n)
  • 47.26 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1427 35
  • 52.92 (n)
  • 47.22 (a)
CG1427 36
  • 46 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea secs-1 35
  • 50.79 (n)
  • 45.12 (a)
secs-1 36
  • 39 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.930 35
Species with no ortholog for SEPSECS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SEPSECS Gene

ENSEMBL:
Gene Tree for SEPSECS (if available)
TreeFam:
Gene Tree for SEPSECS (if available)

Paralogs for SEPSECS Gene

genes like me logo Genes that share paralogs with SEPSECS: view

No data available for Paralogs for SEPSECS Gene

Variants for SEPSECS Gene

Sequence variations from dbSNP and Humsavar for SEPSECS Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_065585 Pontocerebellar hypoplasia 2D (PCH2D)
VAR_065586 Pontocerebellar hypoplasia 2D (PCH2D)
VAR_074163 Pontocerebellar hypoplasia 2D (PCH2D)
rs956925 -- 25,121,237(-) CTCGC(A/G)GTTTG utr-variant-3-prime
rs1035091 -- 25,150,252(-) GTGAT(A/T)TGTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SEPSECS Gene

Variant ID Type Subtype PubMed ID
nsv819375 CNV Loss 19587683
nsv4277 CNV Loss 18451855

Variation tolerance for SEPSECS Gene

Residual Variation Intolerance Score: 26.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.12; 75.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SEPSECS Gene

HapMap Linkage Disequilibrium report
SEPSECS
Human Gene Mutation Database (HGMD)
SEPSECS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPSECS Gene

Disorders for SEPSECS Gene

MalaCards: The human disease database

(10) MalaCards diseases for SEPSECS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pontocerebellar hypoplasia type 2d
  • progressive cerebello-cerebral atrophy
pontocerebellar hypoplasia, type 2e
  • pontocerebellar hypoplasia type 2a
autoimmune hepatitis
  • autoimmune chronic active hepatitis
hepatitis
  • hepatitis a
pontocerebellar hypoplasia
  • pch
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SPCS_HUMAN
  • Pontocerebellar hypoplasia 2D (PCH2D) [MIM:613811]: A disorder characterized by postnatal onset of progressive atrophy of the cerebrum and cerebellum, microcephaly, profound mental retardation, spasticity, and variable seizures. {ECO:0000269 PubMed:20920667, ECO:0000269 PubMed:26115735}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SEPSECS

Human Genome Epidemiology (HuGE) Navigator
SEPSECS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEPSECS
genes like me logo Genes that share disorders with SEPSECS: view

No data available for Genatlas for SEPSECS Gene

Publications for SEPSECS Gene

  1. Isolation and characterization of cDNA encoding the antigenic protein of the human tRNP(Ser)Sec complex recognized by autoantibodies from patients withtype-1 autoimmune hepatitis. (PMID: 10931155) Costa M. … Gelpi C. (Clin. Exp. Immunol. 2000) 2 3 4 23 67
  2. Biosynthesis of selenocysteine on its tRNA in eukaryotes. (PMID: 17194211) Xu X.M. … Hatfield D.L. (PLoS Biol. 2007) 2 3 23 25
  3. Evidence for direct roles of two additional factors, SECp43 and soluble liver antigen, in the selenoprotein synthesis machinery. (PMID: 16230358) Xu X.M. … Hatfield D.L. (J. Biol. Chem. 2005) 2 3 23
  4. RNA-dependent conversion of phosphoserine forms selenocysteine in eukaryotes and archaea. (PMID: 17142313) Yuan J. … Soell D. (Proc. Natl. Acad. Sci. U.S.A. 2006) 2 3
  5. Fine specificity of autoantibodies to soluble liver antigen and liver/pancreas. (PMID: 11826415) Herkel J. … Lohse A.W. (Hepatology 2002) 3 23

Products for SEPSECS Gene

Sources for SEPSECS Gene

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