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Gene Model: Gss

NomenclatureGenomic Location
SymbolGssChromosome2
NameGlutathione synthetaseLinkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesChr2: 69 Mbp

Molecular Function

ATP + gamma-L-glutamyl-L-cysteine + glycine = ADP + phosphate + glutathione.

Molecular Function Terms:

binding
   amine binding
         amino acid binding
            glycine binding
            modified amino acid binding
               glutathione binding
   carboxylic acid binding
         amino acid binding
            glycine binding
            modified amino acid binding
               glutathione binding
   ion binding
      cation binding
         metal ion binding
   nucleotide binding
      purine nucleotide binding
         adenyl nucleotide binding
            adenyl ribonucleotide binding
               ATP binding
   peptide binding
         glutathione binding

catalytic activity
   ligase activity
      ligase activity, forming carbon-nitrogen bonds

Human Disease Association

Defects in GSS are the cause of glutathione synthetase deficiency (GSS deficiency) [MIM:266130]; also known as 5-oxoprolinuria or pyroglutamic aciduria. It is a severe form characterized by an increased rate of hemolysis and defective function of the central nervous system.

Defects in GSS are the cause of glutathione synthetase deficiency of erythrocytes (GLUSYNDE) [MIM:231900]. Glutathione synthetase deficiency of erythrocytes is a mild form causing hemolytic anemia.

Predicted Transcript
     1 ATGACTACTCTTTGGAAAGACATTTTGCGTAATGTCCAGCTTATTCAGTATGTGGCTCCA
    61 ATTGCCGTGGATGCAGCACTCCTTGAAGGGGTTCTAATGAGAACCAAAGATGACCCAAAT
   121 GCATCTGATGCGGTGAATTATGCCCCTTTTACCCTCCTCCCATCTGCAGTCCCAAGTGAT
   181 CTGCTTGAGCAAGCCTATTCCGTTCAGCAAAATTTTAATCTGCTGGTGGATAGAGTTAGT
   241 CAGGATACAGAATTTCTGGAACGCACTCTTGCAAGCACAGTCAAAGTGGATGAATTTACT
   301 GCTCAACTTTTTAATATTTACAAACAAGTTTTGAAAGAAGGAGTGACTCAGACAGTATTT
   361 TTAGGAATCAATCGCTCTGATTACATGTTTGACTATGGTACAGGTGGCTCTCCAGCTCTA
   421 AAACAAATTGAAATAAACACCATTGCTGCCAGCTTTGGAGGCCTCACATCTCGAACCACT
   481 GCAGTGCATCGGCTTGTGTTGAATGTTTTGGGAAAGTCAAAAGAAGCCTCAAAATTACTG
   541 ACTAATAACCCATCCAAAGGGATTGCCATGGGCATCGCAAAGGCTTGGGAACTCTATGGC
   601 TCAGACAGAGCAGTGGTTATGTTCCTGGTTGAAGAGGTGCAGAGAAATATTTTTGACCAA
   661 CGCTGCATAGAAAATGAACTTTGGAGGAGGAATATCCGGGTGATTCGAAGAAGATTTAAA
   721 GATGTGTTTGAAAAAGCGTCTCTGGACAATGACAAACGACTGTACATAGATGGAGATGAG
   781 GTTGCAGTGGTATATTATAGAGAAGGTTATGTTCCAAAGAATTATAATAAACAGAACTGG
   841 GAGGCCCGGTTGTTGCTGGAACGGTCTAGAGCAGTCAAGTGTCCAGATATTGCCACTCAA
   901 CTTGCTGGAACCAAAAAAGTCCAGCAGGAGTTGAGCAGACCAGGAAGTCTAGAAAGATTT
   961 CTGCCAAATAAACCAGAAGCTGTGGATCAGTTAAGAGCAACATTCACAGGGCTGTATTCT
  1021 CTAGAGATGGATGAAGAAGGTGATAAGATGGTTGCCATGGCTATTGCTGACCCAGATCGG
  1081 TTTGTTTTAAAACCACAAAGGGAGGGAGGAGGGAACAATCTCTACAGTGATGAACTGAAG
  1141 CAAGTTTTGGAGAAAATTAAGGACAGTCCTGAGAGGACCTCCTACATTCTTATGGACAAG
  1201 ATAAAACCTCTTCCTGCAATGAATTACTTACTGAGGGCTCACAGTGAATTGAAAATATCA
  1261 GAATGTGTATCTGAATTAGGAATTTTTGGAGTCTACGTCAGCAGACAAGGTCAGGATCTT
  1321 GTGGTGAACAAGCATGTGGGCCATTTGTTGCGAACAAAAGCAGTAGAACATGCGGATGGT
  1381 GGAGTAGCAGCTGGAGTAGCAGTTCTAGATACTCCCTACGTGACATGA

Predicted Protein Product
MTTLWKDILRNVQLIQYVAPIAVDAALLEGVLMRTKDDPNASDAVNYAPFTLLPSAVPSD
LLEQAYSVQQNFNLLVDRVSQDTEFLERTLASTVKVDEFTAQLFNIYKQVLKEGVTQTVF
LGINRSDYMFDYGTGGSPALKQIEINTIAASFGGLTSRTTAVHRLVLNVLGKSKEASKLL
TNNPSKGIAMGIAKAWELYGSDRAVVMFLVEEVQRNIFDQRCIENELWRRNIRVIRRRFK
DVFEKASLDNDKRLYIDGDEVAVVYYREGYVPKNYNKQNWEARLLLERSRAVKCPDIATQ
LAGTKKVQQELSRPGSLERFLPNKPEAVDQLRATFTGLYSLEMDEEGDKMVAMAIADPDR
FVLKPQREGGGNNLYSDELKQVLEKIKDSPERTSYILMDKIKPLPAMNYLLRAHSELKIS
ECVSELGIFGVYVSRQGQDLVVNKHVGHLLRTKAVEHADGGVAAGVAVLDTPYVT
Protein Alignment to Mouse
sp|P51855|GSHB_MOUSE Glutathione synthetase OS=Mus musculus GN=Gss PE=2 SV=1
      MGI:95852 Gss glutathione synthetase (Chr 2)
        Length = 474

 Score = 1585 (563.0 bits), Expect = 1.6e-163, P = 1.6e-163
 Identities = 310/473 (65%), Positives = 372/473 (78%)

Query:     1 MTTLWKDILRNVQLIQYVAPIAVDAALLEGVLMRTKDDPNASDAVNYAPFTLLPSAVPSD 60
             M T W  IL++ + ++ +A  A+D AL EGVL+R+   P++SD V YAPFTL PS VPS 
Sbjct:     1 MATSWGSILQDEKQLEELAKQAIDRALAEGVLLRSAQHPSSSDVVTYAPFTLFPSPVPSA 60

Query:    61 LLEQAYSVQQNFNLLVDRVSQDTEFLERTLASTVKVDEFTAQLFNIYKQVLKEGVTQTVF 120
             LLEQAY+VQ +FN+LVD VSQ+  FLE+TL+ST+K D++TA+LF+IYKQVLKEG+ QTVF
Sbjct:    61 LLEQAYAVQMDFNILVDAVSQNPAFLEQTLSSTIKKDDYTARLFDIYKQVLKEGIAQTVF 120

Query:   121 LGINRSDYMFDYGTGGSPALKQIEINTIAASFGGLTSRTTAVHRLVLNVLGKSKEASKLL 180
             LG+NRSDYMF  G  GS ALKQIEINTI+ASFGGL SRT AVHR VLNVL K+KEASK+L
Sbjct:   121 LGLNRSDYMFQCGADGSKALKQIEINTISASFGGLASRTPAVHRHVLNVLNKTKEASKIL 180

Query:   181 TNNPSKGIAMGIAKAWELYGSDRAVVMFLVEEVQRNIFDQRCIENELWXXXXXXXXXXFK 240
             +NNPSKG+A+GIAKAWELYGS  AVV+ + +E +RNIFDQR +ENEL           F+
Sbjct:   181 SNNPSKGLALGIAKAWELYGSANAVVLLIAQEKERNIFDQRAVENELLDRKIHVIRGRFE 240

Query:   241 DVFEKASLDNDKRLYIDGDEVAVVYYREGYVPKNYNKQNWEARLLLERSRAVKCPDIATQ 300
             DV E+ SLD ++RL++D  EVAVVY+R+GY+P  YN QNWEARL+LERSRA KCPDIA Q
Sbjct:   241 DVSERGSLDQNRRLFMDDQEVAVVYFRDGYMPSQYNSQNWEARLMLERSRAAKCPDIAIQ 300

Query:   301 LAGTKKVQQELSRPGSLERFLPNKPEAVDQLRATFTGLYSLEMDEEGDKMVAMAIADPDR 360
             LAGTKKVQQELSR G LE  LP +PEAV +LRATF GLYSL+M EEGD+ +A A+A P  
Sbjct:   301 LAGTKKVQQELSRVGLLEALLPGQPEAVARLRATFAGLYSLDMGEEGDQAIAEALAAPSH 360

Query:   361 FVLKPQREGGGNNLYSDELKQVLEKIKDSPERTSYILMDKIKPLPAMNYLLRAHSELKIS 420
             FVLKPQREGGGNNLY +E+ Q LE++KDS ER SYILM+KI+P P  N LLR  S  ++ 
Sbjct:   361 FVLKPQREGGGNNLYGEEMVQALEQLKDSEERASYILMEKIEPEPFRNCLLRPGSPAQVV 420

Query:   421 ECVSELGIFGVYVSRQGQDLVVNKHVGHLLRTKAVEHADXXXXXXXXXLDTPY 473
             +C+SELGIFGVYV RQG  LV+NKHVGHLLRTKAVEHAD         LD PY
Sbjct:   421 QCISELGIFGVYV-RQGTTLVMNKHVGHLLRTKAVEHADGGVAAGVAVLDNPY 472