Gene: [14q112/TGM1] transglutaminase 1 (K polypeptide epidermal type I); protein-glutamine-gamma-glutamyltransferase (transglutaminase 1); ichthyosis congenita II, non-erythromatous lamellar ichthyosis (MIM:242300); ichthyosiform erythroderma congenital, autosomal recessive (MIM:242100);
COM | van Bokhoven-1996 found that the RABGGTA (GEM:14q112/RABGGTA) and TGM1 genes are located only 2 kb apart in head-to-tail tandem arrangement: the 3-prime end of the RABGGTA gene overlaps the promoter region of TGM1." |
FUN | [1]
Systematic name: glutaminyl peptide:amine gamma-glutamyl transferase.
[2] The reaction catalyzed: protein glutamine + alkylamine = protein N5-alkylglutamine + NH(3)." |
REL | GEM:20q1/TGM2; GEM:20q1/TGM3; GEM:03p2/TGM4; GEM:06p2/F13A1; GEM:02q3/ICR2B. See also GEM:00.0/ICR1." |
REF | PAT,CAG "Arce B,
Berchmans M: Hum Hered, 19, N2, 121-125, 1969 PAT,EXP,FOG "Holbrook KA &: J Invest Derm, 91, N6, 521-531, 1988 MUT,PAT "Huber M &: Science, 267, N5197, 525-528, 1995 CLO,SEQ,GEN,LOC "Kim HC &: JBC, 267, N11, 7710-7717, 1992 CLO,SEQ,STR "Kim HC &: JBC, 266, N1, 536-539, 1991 MUT,PAT "Laiho E &: AJHG, 61, N3, 529-538, 1997 LIN,LOC,HET "Parmentier L &: Hum Mol Genet, 5, N4, 555-559, 1996 MUT,PAT "Parmentier L &: Hum Mol Genet, 4, N8, 1391-1395, 1995 MUT,PAT "Petit E &: Eur J Hum Genet, 5, N4, 218-228, 1997 CLO,SEQ,STR "Phillips MA &: PNAS, 87, N23, 9333-9337, 1990 CLO,SEQ,GEN "Polakowska R &: PNAS, 89, N10, 4476-4480, 1992 CLO "Polakowska R &: J Invest Derm, 96, N2, 285-288, 1991 LOC "Polakowska RR &: CCG, 56, N2, 105-107, 1991 REV,PAT,CAG,EXP "Rand RE, Baden HP: J Am Acad Derm, 8, N3, 285-305, 1983 MUT,PAT "Russell LJ &: Nature Genet, 9, N3, 279-283, 1995 LIN,LOC "Russell LJ &: AJHG, 55, N6, 1146-1152, 1994 CLO,SEQ,LOC "van Bokhoven H &: Genomics, 38, 133-140, 1996 CLO,SEQ,GEN,LOC "Yamanishi K &: JBC, 267, N25, 17858-17863, 1992 |
SWI | SWISSPROT: P22735 |
KEY | pep, mem, derm |
CLA | coding, basic |
LOC | 14 q11.2 |
MIM | MIM: 190195 |
EZN | ENZYME: 2.3.2.13 |
