LOCUS NP_963925 720 aa linear PRI 24-OCT-2008
DEFINITION transglutaminase 5 isoform 1 [Homo sapiens].
ACCESSION NP_963925
VERSION NP_963925.2 GI:94981556
DBSOURCE REFSEQ: accession NM_201631.2
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 720)
AUTHORS Cassidy,A.J., van Steensel,M.A., Steijlen,P.M., van Geel,M., van
der Velden,J., Morley,S.M., Terrinoni,A., Melino,G., Candi,E. and
McLean,W.H.
TITLE A homozygous missense mutation in TGM5 abolishes epidermal
transglutaminase 5 activity and causes acral peeling skin syndrome
JOURNAL Am. J. Hum. Genet. 77 (6), 909-917 (2005)
PUBMED 16380904
REMARK GeneRIF: A homozygous missense mutation in TGM5 abolishes epidermal
TGM5 activity and causes acral peeling skin syndrome.
REFERENCE 2 (residues 1 to 720)
AUTHORS Thibaut,S., Candi,E., Pietroni,V., Melino,G., Schmidt,R. and
Bernard,B.A.
TITLE Transglutaminase 5 expression in human hair follicle
JOURNAL J. Invest. Dermatol. 125 (3), 581-585 (2005)
PUBMED 16117804
REMARK GeneRIF: Transglutaminase 5 is expressed during hair follicle
homeostasis.
REFERENCE 3 (residues 1 to 720)
AUTHORS Rufini,A., Vilbois,F., Paradisi,A., Oddi,S., Tartaglione,R.,
Leta,A., Bagetta,G., Guerrieri,P., Finazzi-Agro',A., Melino,G. and
Candi,E.
TITLE Transglutaminase 5 is acetylated at the N-terminal end
JOURNAL Amino Acids 26 (4), 425-430 (2004)
PUBMED 15290349
REMARK GeneRIF: Data show that transglutaminase (TGase) 5 is acetylated at
the N-terminal end, is active upon treatment with phorbol acetate,
and co-localises with vimentin intermediate filaments.
REFERENCE 4 (residues 1 to 720)
AUTHORS Cadot,B., Rufini,A., Pietroni,V., Ramadan,S., Guerrieri,P.,
Melino,G. and Candi,E.
TITLE Overexpressed transglutaminase 5 triggers cell death
JOURNAL Amino Acids 26 (4), 405-408 (2004)
PUBMED 15290346
REMARK GeneRIF: Results demonstrate that transglutaminase 5 is able to
induce cell death when intracellularly overexpressed.
REFERENCE 5 (residues 1 to 720)
AUTHORS Dgany,O., Avidan,N., Delaunay,J., Krasnov,T., Shalmon,L.,
Shalev,H., Eidelitz-Markus,T., Kapelushnik,J., Cattan,D.,
Pariente,A., Tulliez,M., Cretien,A., Schischmanoff,P.O.,
Iolascon,A., Fibach,E., Koren,A., Rossler,J., Le Merrer,M.,
Yaniv,I., Zaizov,R., Ben-Asher,E., Olender,T., Lancet,D.,
Beckmann,J.S. and Tamary,H.
TITLE Congenital dyserythropoietic anemia type I is caused by mutations
in codanin-1
JOURNAL Am. J. Hum. Genet. 71 (6), 1467-1474 (2002)
PUBMED 12434312
REFERENCE 6 (residues 1 to 720)
AUTHORS Candi,E., Oddi,S., Paradisi,A., Terrinoni,A., Ranalli,M.,
Teofoli,P., Citro,G., Scarpato,S., Puddu,P. and Melino,G.
TITLE Expression of transglutaminase 5 in normal and pathologic human
epidermis
JOURNAL J. Invest. Dermatol. 119 (3), 670-677 (2002)
PUBMED 12230511
REMARK GeneRIF: transglutaminase 5 contributes, as a secondary effect, to
the hyperkeratotic phenotype in ichthyosis (both vulgaris and
lamellar) and in psoriasis.
REFERENCE 7 (residues 1 to 720)
AUTHORS Grenard,P., Bates,M.K. and Aeschlimann,D.
TITLE Evolution of transglutaminase genes: identification of a
transglutaminase gene cluster on human chromosome 15q15. Structure
of the gene encoding transglutaminase X and a novel gene family
member, transglutaminase Z
JOURNAL J. Biol. Chem. 276 (35), 33066-33078 (2001)
PUBMED 11390390
REFERENCE 8 (residues 1 to 720)
AUTHORS Aeschlimann,D., Koeller,M.K., Allen-Hoffmann,B.L. and Mosher,D.F.
TITLE Isolation of a cDNA encoding a novel member of the transglutaminase
gene family from human keratinocytes. Detection and identification
of transglutaminase gene products based on reverse
transcription-polymerase chain reaction with degenerate primers
JOURNAL J. Biol. Chem. 273 (6), 3452-3460 (1998)
PUBMED 9452468
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AF035960.1 and AC009852.9.
On May 9, 2006 this sequence version replaced gi:42518072.
FEATURES Location/Qualifiers
source 1..720
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q15.2"
Protein 1..720
/product="transglutaminase 5 isoform 1"
/EC_number="2.3.2.13"
/note="transglutaminase X"
/calculated_mol_wt=80647
CDS 1..720
/gene="TGM5"
/gene_synonym="TGX"
/gene_synonym="TGM6"
/gene_synonym="TGMX"
/gene_synonym="MGC141907"
/coded_by="NM_201631.2:9..2171"
/note="isoform 1 is encoded by transcript variant 1"
/db_xref="CCDS:CCDS32212.1"
/db_xref="GeneID:9333"
/db_xref="HGNC:11781"
/db_xref="HPRD:11949"
/db_xref="MIM:603805"
ORIGIN
1 maqglevalt dlqssrnnvr hhteeitvdh llvrrgqafn ltlyfrnrsf qpgldniifv
61 vetgplpdla lgtravfsla rhhspspwia wletngatst evslcappta avgryllkih
121 idsfqgsvta yqlgefillf npwcpedavy ldsepqrqey vmndygfiyq gsknwirpcp
181 wnygqfedki idiclklldk slhfqtdpat dcalrgspvy vsrvvcamin snddngvlng
241 nwsenytdga npaewtgsva ilkqwnatgc qpvrygqcwv faavmctvmr clgiptrvit
301 nfdsghdtdg nliideyydn tgrilgnkkk dtiwnfhvwn ecwmarkdlp payggwqvld
361 atpqemsngv yccgpasvra ikegevdlny dtpfvfsmvn adcmswlvqg gkeqklhqdt
421 ssvgnfistk siqsderddi tenykyeegs lqerqvflka lqklkarsfh gsqrgaelqp
481 srptslsqds prslhtpslr psdvvqvslk fklldppnmg qdicfvllal nmssqfkdlk
541 vnlsaqsllh dgsplspfwq dtafitlspk eaktypckis ysqysqylst dklirisalg
601 eeksspekil vnkiitlsyp sitinvlgaa vvnqplsiqv ifsnplseqv edcvltvegs
661 glfkkqqkvf lgvlkpqhqa siiletvpfk sgqrqiqanm rsnkfkdikg yrnvyvdfal
//