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Aliases for SEPSECS Gene

Aliases for SEPSECS Gene

  • Sep (O-Phosphoserine) TRNA:Sec (Selenocysteine) TRNA Synthase 2 3
  • SLA 3 4 6
  • LP 3 4 6
  • 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
  • PCH2D 3 6
  • O-Phosphoseryl-TRNA(Sec) Selenium Transferase 3
  • Selenocysteinyl-TRNA(Sec) Synthase 4
  • Sep-TRNA:Sec-TRNA Synthase 4
  • Selenocysteine Synthase 4
  • Sec Synthase 4
  • EC 2.9.1.n1 64
  • EC 2.9.1.2 4
  • SepSecS 4
  • SLA/LP 3
  • TRNP48 4

External Ids for SEPSECS Gene

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 acute liver failure. Among its related pathways are PDGFR-beta signaling pathway and Selenium Metabolism and Selenoproteins. GO annotations related to this gene include pyridoxal phosphate binding and transferase activity, transferring selenium-containing groups.

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

Genomic Location for SEPSECS Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SEPSECS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPSECS Gene

Regulatory Elements for SEPSECS Gene

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

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

Domains for SEPSECS Gene

UniProtKB/Swiss-Prot:

SPCS_HUMAN
Family:
  • Belongs to the SepSecS family.:
    • Q9HD40
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:0000049 tRNA binding ISS --
GO:0005515 protein binding IPI 22190034
GO:0016740 transferase activity --
GO:0016785 transferase activity, transferring selenium-containing groups IEA --
GO:0030170 pyridoxal phosphate binding IEA --
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

miRNA for SEPSECS Gene

miRTarBase miRNAs that target SEPSECS

No data available for Animal Models , Transcription Factor Targeting 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
nucleus 3
cytosol 2
mitochondrion 2
endoplasmic reticulum 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SEPSECS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with SEPSECS: view

Pathways for SEPSECS Gene

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

Pathways by source for SEPSECS Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for SEPSECS Gene
2 KEGG pathways 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:0001514 selenocysteine incorporation ISS --
GO:0008152 metabolic process --
GO:0097056 selenocysteinyl-tRNA(Sec) biosynthetic process IEA --
genes like me logo Genes that share ontologies with SEPSECS: view

Compounds for SEPSECS Gene

(4) HMDB Compounds for SEPSECS Gene

Compound Synonyms Cas Number PubMed IDs
Pyridoxal 5'-phosphate
  • Apolon B6
54-47-7
Selenium
  • selenium
7782-49-2
Selenocysteine
  • (2R)-2-amino-3-selanylpropanoate
3614-08-2
Selenophosphate
  • Phosphorus selenide (PSe)
289702-60-9

(1) Drugbank Compounds for SEPSECS Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Pyridoxal Phosphate
  • Codecarboxylase
54-47-7 target cofactor

(8) Novoseek inferred chemical compound relationships for SEPSECS Gene

Compound -log(P) Hits PubMed IDs
selenophosphate 80.3 1
selenocysteine 70.2 8
mycophenolate mofetil 52.1 1
ivig 23.2 2
cyclosporin a 21.3 1
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 (4.1).

Integrated Proteomics: protein expression 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 expressions with SEPSECS: view

Orthologs for SEPSECS Gene

This gene was present in the common ancestor of animals.

Orthologs for SEPSECS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEPSECS 36
  • 99.73 (n)
  • 99.6 (a)
SEPSECS 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SEPSECS 36
  • 94 (n)
  • 94.8 (a)
SEPSECS 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEPSECS 36
  • 92.47 (n)
  • 93.2 (a)
SEPSECS 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sepsecs 36
  • 86.65 (n)
  • 88.33 (a)
Sepsecs 16
Sepsecs 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SEPSECS 37
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 72 (a)
OneToMany
-- 37
  • 76 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Sepsecs 36
  • 87.47 (n)
  • 88.82 (a)
chicken
(Gallus gallus)
Aves SEPSECS 36
  • 80.08 (n)
  • 84.02 (a)
SEPSECS 37
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEPSECS 37
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sepsecs 36
  • 72.36 (n)
  • 78.66 (a)
zebrafish
(Danio rerio)
Actinopterygii sepsecs 36
  • 70.49 (n)
  • 75.83 (a)
sepsecs 37
  • 74 (a)
OneToOne
zgc55980 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003527 36
  • 51.28 (n)
  • 47.26 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1427 36
  • 52.92 (n)
  • 47.22 (a)
CG1427 37
  • 46 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea secs-1 36
  • 50.79 (n)
  • 45.12 (a)
secs-1 37
  • 39 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.930 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 53 (a)
OneToOne
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 MAF
rs956925 -- 25,121,237(-) CTCGC(A/G)GTTTG utr-variant-3-prime
rs1035091 -- 25,150,252(-) GTGAT(A/T)TGTGT intron-variant
rs1553153 -- 25,147,343(-) AATCC(A/G)ACAAA intron-variant
rs2192447 -- 25,137,390(-) ttttt(A/T)atggg intron-variant
rs2286987 -- 25,121,012(-) taata(C/T)tatGA utr-variant-3-prime

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

Relevant External Links for SEPSECS Gene

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

Disorders for SEPSECS Gene

(1) OMIM Diseases for SEPSECS Gene (613009)

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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for SEPSECS Gene

(16) Novoseek inferred disease relationships for SEPSECS Gene

Disease -log(P) Hits PubMed IDs
hepatitis autoimmune 94.1 36
biliary cirrhosis primary 71.8 4
other liver diseases 69.3 1
liver diseases 69.2 5
hepatitis 60.6 5

Relevant External Links for SEPSECS

Human Genome Epidemiology (HuGE) Navigator
SEPSECS
genes like me logo Genes that share disorders with SEPSECS: view

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
  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. 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 4
  4. 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
  5. Soluble liver antigen: isolation of a 35-kd recombinant protein (SLA- p35) specifically recognizing sera from patients with autoimmune hepatitis. (PMID: 11230739) Volkmann M. … Manns M.P. (Hepatology 2001) 3 4 23

Products for SEPSECS Gene

Sources for SEPSECS Gene

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