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Gene Model: Plod1

NomenclatureGenomic Location
SymbolPlod1Chromosome1
NameProcollagen-lysine,
2-oxoglutarate 5-dioxygenase 1		Linkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates1: 34 Mbp

Molecular Function

Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links.

Molecular Function Terms:

binding
   carboxylic acid binding
      L-ascorbic acid binding
   cation binding
      metal ion binding
   vitamin binding
      L-ascorbic acid binding

catalytic activity
   oxidoreductase activity
      dioxygenase activity
      oxidoreductase activity, acting on paired donors,
      with incorporation or reduction of molecular oxygen,
      2-oxoglutarate as one donor, and incorporation of
      one atom each of oxygen into both donors
         peptidyl-lysine 5-dioxygenase activity
            procollagen-lysine 5-dioxygenase activity

Human Disease Association

Defects in PLOD1 are the cause of Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400]. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS6 is characterized by the presence of ocular complications, particularly retinal detachment.

Defects in PLOD1 are the cause of Nevo syndrome (NEVOS) [MIM:601451]. This is a rare, autosomal recessive disorder characterized by increased perinatal length, kyphosis, muscular hypotonia, and joint laxity. Nevo syndrome and EDS-VI have similar clinical phenotypes. Some authors consider that both syndromes are the same clinical entity.

Predicted Transcript
     1 TTCCAATTTCAGGTCTTGGGACTGGACGAAGGCGACCAGAAACCCCTTGGAGGTGGTCAG
    61 AAGGTCCGGCTGTTGAAAGCAGCCTTGGAAAACTATGCGGACAAAGAGGATTTGGTCATC
   121 CTTTTCACAGAAAGCGACAATGCCCTCTTTGCCTCCGGACCCACAGAAATCCTCAAGAAA
   181 TTCAAACAGGCCGCATCCCGGGTGGTATTTTCGTCTGAGACTCTCATCTATCCAGACCGA
   241 AGGCTGGAATCCAAATATCCTCAGGTTCGGGAAGGGAACCGCTTCCTTGGATCTGGAGAG
   301 GGTTTATTGGATTCTGCCCCGTTTCTCAGCAAAATGCTGGCGGATTGGTCCGGTCCAGAC
   361 AGCGCCAGCGACCAGCTGTTTTACACCAAGGTTTTCTTAGATCCGGAAAAGAGGGAGGGC
   421 CTCAATATCACTTTGGATCACAGGTGCCGCATCTTCCAAAACCTCAATGGAGCCCTTGAC
   481 AACGTGGTCCTGAAATTTGAAAAGGGGCGCGTGAGAGCAAGGAACCTGGCCTTCGATACG
   541 CTCCCGGTCCTGATCCAGAGCAACGAAGCCACCAAGCTGCAGCTGAACTACTTGGGCAAC
   601 TACATCCCTCAGAGCTGGACTTTCGAGACGGGATGCACTCTTTGCGGAGAAGGCCTGAAG
   661 GACCTCACAGACCTGGACGAGGGAGTCTTCCCCGTGGTCCTCCTGGGGGTCTTCATTGAG
   721 CAGCCCACCCCCTTCCTCTCCCAGTTCTTCCAACGGCTGCAGAAGCTGCGATACCCAAAG
   781 GGACGCATCCAGCTCTTCATCCATAACAGTGTGAGTCATTATATGATT

Predicted Protein Product
FQFQVLGLDEGDQKPLGGGQKVRLLKAALENYADKEDLVILFTESDNALFASGPTEILKK
FKQAASRVVFSSETLIYPDRRLESKYPQVREGNRFLGSGEGLLDSAPFLSKMLADWSGPD
SASDQLFYTKVFLDPEKREGLNITLDHRCRIFQNLNGALDNVVLKFEKGRVRARNLAFDT
LPVLIQSNEATKLQLNYLGNYIPQSWTFETGCTLCGEGLKDLTDLDEGVFPVVLLGVFIE
QPTPFLSQFFQRLQKLRYPKGRIQLFIHNSVSHYMI
Protein Alignment to Mouse
tr|Q3UE11|Q3UE11_MOUSE Putative uncharacterized protein OS=Mus musculus
            GN=Plod1 PE=2 SV=1
      MGI:2444691 Tcfcp2l1 transcription factor CP2-like 1 (Chr 1)
        Length = 728

 Score = 955 (341.2 bits), Expect = 9.5e-97, P = 9.5e-97
 Identities = 186/281 (66%), Positives = 222/281 (79%)

Query:     1 FQFQVLGLDE-----GDQKPLGGGQKVRLLKAALENYADKEDLVILFTESDNALFASGPT 55
             ++ Q LGL E     G     GGGQKVRLLK ALE +ADKEDLVILF +S + +FASGP 
Sbjct:    53 YKIQSLGLGEDWSVDGGPAAAGGGQKVRLLKKALEKHADKEDLVILFVDSYDVVFASGPR 112

Query:    56 EILKKFKQAASRVVFSSETLIYPDRRLESKYPQVREGNRFLGSGEGLLDSAPFLSKMLAD 115
             E+LKKF+QA S+VVFS+E  IYPDRRLESKYP V +G RFLGSG G +  AP LSK++A+
Sbjct:   113 ELLKKFQQAKSQVVFSAEEHIYPDRRLESKYPTVPDGKRFLGSG-GFIGYAPSLSKLVAE 171

Query:   116 WSGPDSASDQLFYTKVFLDPEKREGLNITLDHRCRIFQNLNGALDNVVLKFEKGRVRARN 175
             W G DS SDQLFYTK+FL+PEKRE +NI+LDHRCRIFQNL+GALD VVLKFE G VRARN
Sbjct:   172 WEGQDSDSDQLFYTKIFLNPEKREQINISLDHRCRIFQNLDGALDEVVLKFEMGHVRARN 231

Query:   176 LAFDTLPVLIQSNEATKLQLNYLGNYIPQSWTFETGCTLCGEGLKDLTDLDEGVFPVVLL 235
             LA+DTLPV++  N  TKLQLNYLGNYIP+ WTFETGCT+C EGL+ L  + +   P VL+
Sbjct:   232 LAYDTLPVVVHGNGPTKLQLNYLGNYIPRFWTFETGCTVCDEGLRSLKGIGDEALPTVLV 291

Query:   236 GVFIEQPTPFLSQFFQRLQKLRYPKGRIQLFIHNSVSHYMI 276
             GVFIEQPTPFLS FF RL +LRYP+ +++LFIHN   H+ +
Sbjct:   292 GVFIEQPTPFLSLFFLRLLRLRYPQKQMRLFIHNQERHHKL 332