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Gene Model: Glul

NomenclatureGenomic Location
SymbolGlulChromosome1
NameGlutamine synthetaseLinkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesChr1: 55 Mbp

Molecular Function

Essential for proliferation of fetal skin fibroblasts. This enzyme has 2 functions: it catalyzes the production of glutamine and 4-aminobutanoate (gamma-aminobutyric acid, GABA), the latter in a pyridoxal phosphate-independent manner.

Molecular Function Terms:

binding
   amine binding
      amino acid binding
   carboxylic acid binding
      amino acid binding
   ion binding
   nucleotide binding
      purine nucleotide binding
         adenyl nucleotide binding
            adenyl ribonucleotide binding
               ATP binding
   protein binding
      dynein binding

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

Human Disease Association

Defects in GLUL are the cause of congenital systemic glutamine deficiency (CSGD) [MIM:610015]. CSGD is a rare developmental disorder with severe brain malformation resulting in multi-organ failure and neonatal death. Glutamine is largely absent from affected patients serum, urine and cerebrospinal fluid.

Predicted Transcript
     1 ATGGCCACCTCTGCAAGTTCCCATTTGAGTAAAGCTATAAAGCATATGTACATGAAGTTG
    61 CCTCAGGGGGACAAGGTGCAAGCTATGTACATCTGGATAGATGGGACTGGCGAGTTTCTG
   121 CGTTGTAAGACTCGGACACTGGATCATGAGCCCAAGAACATTGAAGATCTACCAGAATGG
   181 AATTTTGATGGCTCCAGCACCTACCAGTCCGAGGGCTCCAACAGTGACATGTACCTTGTG
   241 CCTTCTGCCATGTTCCGGGACCCTTTCCGCAAAGACCCCAACAAGCTGGTTCTCTGCGAG
   301 GTCTTAAAGTACAACCGCAAGCCTGCAGAAACAAATATAAGGAACAGCTGTGAAAGAATC
   361 ATGGATATGGTGTCTAATCAGAATCCCTGGTTCGGGATGGAGCAAGAATATACTCTTCTG
   421 GGAACAGATGGACATCCCTTTGGCTGGCCTTCCAATGGTTTTCCTGGACCCCAAGGCCCA
   481 TACTACTGTGGAGTTGGAGCAGACAAGGCTTATGGGCGAGACATTGTGGAAGCCCATTAT
   541 CGAGCCTGCCTATATGCTGGTGTGAACATTGGTGGCACAAATGCAGAAGTTATGCCAGCG
   601 CAGTGGGAATTCCAGGTGGGTCCATGCGAAGGAATTGAGATGGGTGACCACCTCTGGATT
   661 GCTCGGTTCATCCTTCATAGAGTATGTGAAGACTTCGGTGTCATTGTGTCTTTTGACCCC
   721 AAGCCTATCCCAGGCAACTGGAATGGAGCTGGATGCCACACGAACTTCAGCACTAAAGCC
   781 ATGCGAGAGGAAGGAGGCCTCAAGCATATTGAAGAAGCTATTGAGAAGCTGGGCAAGCGC
   841 CATCAGTACCACATCCGTGCCTATGATCCCAAAGGGGGGCTGGATAATGCCAGGCGTCTG
   901 ACCGGGTTCCATGAGACGTCCAACATCAATGAGTTCTCTGCTGGAGTAGCCAACCGTGGT
   961 GCCAGCATCCGCATCCCAAGAAGCGTGGGCCAAGAGAAGAAAGGCTACTTTGAAGATCGC
  1021 CGGCCCTCCGCCAACTGTGACCCTTATGCCGTGACCGAAGCACTAGTCCGCACTTGTCTC
  1081 CTCAACGAAACCGGGGATGAGCCCTTTGAGTACAAGAACTAA

Predicted Protein Product
MATSASSHLSKAIKHMYMKLPQGDKVQAMYIWIDGTGEFLRCKTRTLDHEPKNIEDLPEW
NFDGSSTYQSEGSNSDMYLVPSAMFRDPFRKDPNKLVLCEVLKYNRKPAETNIRNSCERI
MDMVSNQNPWFGMEQEYTLLGTDGHPFGWPSNGFPGPQGPYYCGVGADKAYGRDIVEAHY
RACLYAGVNIGGTNAEVMPAQWEFQVGPCEGIEMGDHLWIARFILHRVCEDFGVIVSFDP
KPIPGNWNGAGCHTNFSTKAMREEGGLKHIEEAIEKLGKRHQYHIRAYDPKGGLDNARRL
TGFHETSNINEFSAGVANRGASIRIPRSVGQEKKGYFEDRRPSANCDPYAVTEALVRTCL
LNETGDEPFEYKN
Protein Alignment to Mouse
sp|P15105|GLNA_MOUSE Glutamine synthetase OS=Mus musculus GN=Glul PE=1 SV=6
      MGI:95739 Glul glutamate-ammonia ligase (glutamine synthetase) (Chr 1)
        Length = 373

 Score = 1885 (668.6 bits), Expect = 2.6e-195, P = 2.6e-195
 Identities = 338/373 (90%), Positives = 356/373 (95%)

Query:     1 MATSASSHLSKAIKHMYMKLPQGDKVQAMYIWIDGTGEFLRCKTRTLDHEPKNIEDLPEW 60
             MATSASSHL+K IK MYM LPQG+KVQAMYIW+DGTGE LRCKTRTLD EPK +E+LPEW
Sbjct:     1 MATSASSHLNKGIKQMYMSLPQGEKVQAMYIWVDGTGEGLRCKTRTLDCEPKCVEELPEW 60

Query:    61 NFDGSSTYQSEGSNSDMYLVPSAMFRDPFRKDPNKLVLCEVLKYNRKPAETNIRNSCERI 120
             NFDGSST+QSEGSNSDMYL P AMFRDPFRKDPNKLVLCEV KYNRKPAETN+R+ C+RI
Sbjct:    61 NFDGSSTFQSEGSNSDMYLHPVAMFRDPFRKDPNKLVLCEVFKYNRKPAETNLRHICKRI 120

Query:   121 MDMVSNQNPWFGMEQEYTLLGTDGHPFGWPSNGFPGPQGPYYCGVGADKAYGRDIVEAHY 180
             MDMVSNQ+PWFGMEQEYTL+GTDGHPFGWPSNGFPGPQGPYYCGVGADKAYGRDIVEAHY
Sbjct:   121 MDMVSNQHPWFGMEQEYTLMGTDGHPFGWPSNGFPGPQGPYYCGVGADKAYGRDIVEAHY 180

Query:   181 RACLYAGVNIGGTNAEVMPAQWEFQVGPCEGIEMGDHLWIARFILHRVCEDFGVIVSFDP 240
             RACLYAGV I GTNAEVMPAQWEFQ+GPCEGI MGDHLWIARFILHRVCEDFGVI +FDP
Sbjct:   181 RACLYAGVKITGTNAEVMPAQWEFQIGPCEGIRMGDHLWIARFILHRVCEDFGVIATFDP 240

Query:   241 KPIPGNWNGAGCHTNFSTKAMREEGGLKHIEEAIEKLGKRHQYHIRAYDPKGGLDNARRL 300
             KPIPGNWNGAGCHTNFSTKAMREE GLK IEEAI+KL KRHQYHIRAYDPKGGLDNARRL
Sbjct:   241 KPIPGNWNGAGCHTNFSTKAMREENGLKCIEEAIDKLSKRHQYHIRAYDPKGGLDNARRL 300

Query:   301 TGFHETSNINEFSAGVANRGASIRIPRSVGQEKKGYFEDRRPSANCDPYAVTEALVRTCL 360
             TGFHETSNIN+FSAGVANRGASIRIPR+VGQEKKGYFEDRRPSANCDPYAVTEA+VRTCL
Sbjct:   301 TGFHETSNINDFSAGVANRGASIRIPRTVGQEKKGYFEDRRPSANCDPYAVTEAIVRTCL 360

Query:   361 LNETGDEPFEYKN 373
             LNETGDEPF+YKN
Sbjct:   361 LNETGDEPFQYKN 373