LOCUS       NM_201631               2843 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.
ACCESSION   NM_201631
VERSION     NM_201631.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2843)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2843)
  AUTHORS   Mohamad,J., Nanda,A., Pavlovsky,M., Peled,A., Malchin,N.,
            Malovitski,K., Pramanik,R., Weissglas-Volkov,D., Shomron,N.,
            McGrath,J., Sprecher,E. and Sarig,O.
  TITLE     Phenotypic suppression of acral peeling skin syndrome in a patient
            with autosomal recessive congenital ichthyosis
  JOURNAL   Exp Dermatol 29 (8), 742-748 (2020)
   PUBMED   32618001
  REMARK    GeneRIF: Phenotypic suppression of acral peeling skin syndrome in a
            patient with autosomal recessive congenital ichthyosis.
REFERENCE   3  (bases 1 to 2843)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2843)
  AUTHORS   Kharfi,M., El Fekih,N., Ammar,D., Jaafoura,H., Schwonbeck,S., van
            Steensel,M.A., Fazaa,B., Kamoun,M.R. and Fischer,J.
  TITLE     A missense mutation in TGM5 causes acral peeling skin syndrome in a
            Tunisian family
  JOURNAL   J Invest Dermatol 129 (10), 2512-2515 (2009)
   PUBMED   19440220
  REMARK    GeneRIF: A missense mutation in TGM5 causes acral peeling skin
            syndrome in a Tunisian family.
REFERENCE   5  (bases 1 to 2843)
  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   6  (bases 1 to 2843)
  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   7  (bases 1 to 2843)
  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   8  (bases 1 to 2843)
  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   9  (bases 1 to 2843)
  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
REFERENCE   10 (bases 1 to 2843)
  AUTHORS   So,J.Y. and Teng,J.
  TITLE     Epidermolysis Bullosa Simplex
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301543
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009852.9, BC119009.1,
            AK298479.1, AC068724.7, AW467571.1 and CA314704.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_201631.3.
            
            Summary: This gene encodes a member of the transglutaminase family.
            The encoded protein catalyzes formation of protein cross-links
            between glutamine and lysine residues, often resulting in
            stabilization of protein assemblies. This reaction is calcium
            dependent. Mutations in this gene have been associated with acral
            peeling skin syndrome. [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC119009.1, AF035960.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893, SAMEA2147596
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000220420.10/ ENSP00000220420.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-71                AC009852.9         100650-100720       c
            72-2270             BC119009.1         1-2199
            2271-2413           AK298479.1         1616-1758
            2414-2414           AC068724.7         172555-172555       c
            2415-2461           AK298479.1         1760-1806
            2462-2477           AC068724.7         172492-172507       c
            2478-2529           AW467571.1         315-366             c
            2530-2838           CA314704.1         19-327              c
            2839-2843           AC068724.7         172126-172130       c
FEATURES             Location/Qualifiers
     source          1..2843
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.2"
     gene            1..2843
                     /gene="TGM5"
                     /gene_synonym="PSS2; TG(X); TGASE5; TGASEX; TGM6; TGMX;
                     TGX"
                     /note="transglutaminase 5"
                     /db_xref="GeneID:9333"
                     /db_xref="HGNC:HGNC:11781"
                     /db_xref="MIM:603805"
     exon            1..89
                     /gene="TGM5"
                     /gene_synonym="PSS2; TG(X); TGASE5; TGASEX; TGM6; TGMX;
                     TGX"
                     /inference="alignment:Splign:2.1.0"
     CDS             80..2242
                     /gene="TGM5"
                     /gene_synonym="PSS2; TG(X); TGASE5; TGASEX; TGM6; TGMX;
                     TGX"
                     /EC_number="2.3.2.13"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transglutaminase X; protein-glutamine
                     gamma-glutamyltransferase 5; transglutaminase V; TGase X;
                     TGase-5"
                     /codon_start=1
                     /product="protein-glutamine gamma-glutamyltransferase 5
                     isoform 1"
                     /protein_id="NP_963925.2"
                     /db_xref="CCDS:CCDS32212.1"
                     /db_xref="GeneID:9333"
                     /db_xref="HGNC:HGNC:11781"
                     /db_xref="MIM:603805"
                     /translation="MAQGLEVALTDLQSSRNNVRHHTEEITVDHLLVRRGQAFNLTLY
                     FRNRSFQPGLDNIIFVVETGPLPDLALGTRAVFSLARHHSPSPWIAWLETNGATSTEV
                     SLCAPPTAAVGRYLLKIHIDSFQGSVTAYQLGEFILLFNPWCPEDAVYLDSEPQRQEY
                     VMNDYGFIYQGSKNWIRPCPWNYGQFEDKIIDICLKLLDKSLHFQTDPATDCALRGSP
                     VYVSRVVCAMINSNDDNGVLNGNWSENYTDGANPAEWTGSVAILKQWNATGCQPVRYG
                     QCWVFAAVMCTVMRCLGIPTRVITNFDSGHDTDGNLIIDEYYDNTGRILGNKKKDTIW
                     NFHVWNECWMARKDLPPAYGGWQVLDATPQEMSNGVYCCGPASVRAIKEGEVDLNYDT
                     PFVFSMVNADCMSWLVQGGKEQKLHQDTSSVGNFISTKSIQSDERDDITENYKYEEGS
                     LQERQVFLKALQKLKARSFHGSQRGAELQPSRPTSLSQDSPRSLHTPSLRPSDVVQVS
                     LKFKLLDPPNMGQDICFVLLALNMSSQFKDLKVNLSAQSLLHDGSPLSPFWQDTAFIT
                     LSPKEAKTYPCKISYSQYSQYLSTDKLIRISALGEEKSSPEKILVNKIITLSYPSITI
                     NVLGAAVVNQPLSIQVIFSNPLSEQVEDCVLTVEGSGLFKKQQKVFLGVLKPQHQASI
                     ILETVPFKSGQRQIQANMRSNKFKDIKGYRNVYVDFAL"
     exon            90..269
                     /gene="TGM5"
                     /gene_synonym="PSS2; TG(X); TGASE5; TGASEX; TGM6; TGMX;
                     TGX"
                     /inference="alignment:Splign:2.1.0"
     exon            270..515
                     /gene="TGM5"
                     /gene_synonym="PSS2; TG(X); TGASE5; TGASEX; TGM6; TGMX;
                     TGX"
                     /inference="alignment:Splign:2.1.0"
     exon            516..634
                     /gene="TGM5"
                     /gene_synonym="PSS2; TG(X); TGASE5; TGASEX; TGM6; TGMX;
                     TGX"
                     /inference="alignment:Splign:2.1.0"
     exon            635..763
                     /gene="TGM5"
                     /gene_synonym="PSS2; TG(X); TGASE5; TGASEX; TGM6; TGMX;
                     TGX"
                     /inference="alignment:Splign:2.1.0"
     exon            764..941
                     /gene="TGM5"
                     /gene_synonym="PSS2; TG(X); TGASE5; TGASEX; TGM6; TGMX;
                     TGX"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1080
                     /gene="TGM5"
                     /gene_synonym="PSS2; TG(X); TGASE5; TGASEX; TGM6; TGMX;
                     TGX"
                     /inference="alignment:Splign:2.1.0"
     exon            1081..1184
                     /gene="TGM5"
                     /gene_synonym="PSS2; TG(X); TGASE5; TGASEX; TGM6; TGMX;
                     TGX"
                     /inference="alignment:Splign:2.1.0"
     exon            1185..1424
                     /gene="TGM5"
                     /gene_synonym="PSS2; TG(X); TGASE5; TGASEX; TGM6; TGMX;
                     TGX"
                     /inference="alignment:Splign:2.1.0"
     exon            1425..1793
                     /gene="TGM5"
                     /gene_synonym="PSS2; TG(X); TGASE5; TGASEX; TGM6; TGMX;
                     TGX"
                     /inference="alignment:Splign:2.1.0"
     exon            1794..1954
                     /gene="TGM5"
                     /gene_synonym="PSS2; TG(X); TGASE5; TGASEX; TGM6; TGMX;
                     TGX"
                     /inference="alignment:Splign:2.1.0"
     exon            1955..2088
                     /gene="TGM5"
                     /gene_synonym="PSS2; TG(X); TGASE5; TGASEX; TGM6; TGMX;
                     TGX"
                     /inference="alignment:Splign:2.1.0"
     exon            2089..2843
                     /gene="TGM5"
                     /gene_synonym="PSS2; TG(X); TGASE5; TGASEX; TGM6; TGMX;
                     TGX"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2238..2243
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TGM5"
                     /gene_synonym="PSS2; TG(X); TGASE5; TGASEX; TGM6; TGMX;
                     TGX"
                     /note="hexamer: TATAAA"
     polyA_site      2256
                     /gene="TGM5"
                     /gene_synonym="PSS2; TG(X); TGASE5; TGASEX; TGM6; TGMX;
                     TGX"
                     /note="major polyA site"
     regulatory      2816..2821
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TGM5"
                     /gene_synonym="PSS2; TG(X); TGASE5; TGASEX; TGM6; TGMX;
                     TGX"
                     /note="hexamer: AATAAA"
     polyA_site      2843
                     /gene="TGM5"
                     /gene_synonym="PSS2; TG(X); TGASE5; TGASEX; TGM6; TGMX;
                     TGX"
ORIGIN      
        1 actctggcac cagtttgctg aagctccaga ccgcccagct gttctgtggg gagcatccca
       61 ggaaccggag gcagctacca tggcccaagg gctagaagtg gccctcacag acctccagag
      121 ctccagaaat aatgtgcggc accacacgga ggagatcact gtggaccacc tgcttgttcg
      181 ccggggccag gccttcaacc tcaccctgta cttcaggaac cggagcttcc agccaggcct
      241 ggacaacatc atcttcgtgg ttgaaactgg accgctgcca gacctggcct tggggactcg
      301 ggctgtgttc agcctggcac gccatcacag ccccagcccc tggattgcct ggctggagac
      361 caatggggcc acctccacag aggtgagctt gtgcgctcct cccacggcgg ccgtgggtcg
      421 gtacctcttg aaaatccaca tcgactcctt ccaggggtct gtgacggcct accagctagg
      481 ggagttcatc ctgcttttca atccctggtg cccagaggat gctgtctact tggacagtga
      541 accccagagg caggagtatg tcatgaatga ttatggcttc atctaccaag gcagcaagaa
      601 ctggatccgc ccatgtccct ggaactatgg acagtttgaa gacaaaatca tagacatctg
      661 cctgaagctg ctagacaaga gcctgcactt ccagactgac ccagccacag actgtgctct
      721 gcggggaagc cccgtctacg tcagcagagt ggtgtgtgcc atgatcaaca gcaatgatga
      781 taatggggtg ctcaatggaa actggagtga gaattacaca gacggcgcca accctgcgga
      841 gtggacgggc agcgtggcca tcctgaagca gtggaacgcc acaggctgcc agcccgtgcg
      901 ctacgggcaa tgctgggtct ttgctgccgt catgtgcaca gtgatgaggt gtctggggat
      961 ccctacccgt gtgatcacca acttcgactc tggccacgat acagatggaa acctgatcat
     1021 agatgagtat tatgacaaca caggcaggat tttggggaat aagaagaagg atactatctg
     1081 gaacttccat gtctggaatg agtgctggat ggcccggaag gatctgcccc ctgcatatgg
     1141 aggctggcag gtgctggacg ccacacctca ggagatgagc aacggcgtct actgctgtgg
     1201 ccctgcctct gtcagagcca tcaaagaagg agaagtggac ctgaactatg acacgccctt
     1261 tgtgttttcg atggtgaatg ctgactgcat gtcctggctc gtccagggag ggaaggagca
     1321 gaagcttcac caggacacga gttctgttgg caattttatc agcacaaaga gcatccagag
     1381 tgacgagcgg gatgacatca cagagaacta caagtatgaa gaaggatccc tccaggagag
     1441 gcaggtgttt ctgaaggctc tgcagaagct gaaggctaga agcttccatg gctcccaaag
     1501 aggagcagag ttgcaacctt ccaggcccac atcactgagc caggacagcc ctcggagcct
     1561 gcatacacct tcccttcgac ccagtgatgt ggtgcaagtc tccctgaaat tcaagctgct
     1621 cgacccgccc aacatgggcc aggatatatg ctttgtcctg ctggccctca acatgtcctc
     1681 ccagttcaag gacctcaaag tgaacctgag tgcccagtct ctgctgcacg atggcagccc
     1741 cctgtcccca ttctggcagg acacagcgtt catcacactc tctcctaaag aagcaaagac
     1801 ctacccctgc aaaatctcct attcccagta cagccagtac ctgtcaacag acaagctgat
     1861 ccgcatcagt gccctgggtg aagagaaaag cagtcctgag aaaatcctgg tgaacaagat
     1921 catcacctta tcttatccaa gcatcacgat taatgttcta ggagcagccg ttgtgaacca
     1981 gccactctcc atacaggtga tattttcaaa ccccctctcg gagcaggttg aggactgtgt
     2041 gctgactgtg gaaggaagtg gcctcttcaa gaaacagcag aaagtcttcc ttggagtcct
     2101 caaaccccaa caccaagcaa gcatcattct ggagaccgtc cccttcaaga gtggacaaag
     2161 gcagatccaa gctaatatga gaagcaacaa gtttaaggac attaagggtt acaggaatgt
     2221 ttatgtagac tttgcattat aaattctgga acaacgcgcc agacgtgtga atttcaagct
     2281 tcaggaaaag gagcaagttc aaatgcaagc tgcgccattc cccaccacaa cagaggcttc
     2341 acagggctcc agcaagagcc acagagggga tgacgtgttc attttctgtc tctcctgact
     2401 ccactagaaa tttaagctcc atgagggcaa agactttgct ttgtttacta cccctatact
     2461 cagaaccatt tctggcatat gctaggcact caacaaatat tttttgaatg aatgaatagg
     2521 agactccagc atccagagaa caggtaggaa atgtctatgg atggatattt ccctggacca
     2581 tttgcacagc tcccctggac tcttttcagg gcccagggat tccactgtgt cccatccaga
     2641 gattccagga ttccagtctc ctatccagaa gcgtgatttg gcacagaggt cagaggatac
     2701 tggtaggact tggccatgac ttaactgccc cctgccccag atatccagga aagaaaaaga
     2761 caggctgaac agctcactgt tgttttgttg ttgcgaaagc taattcccta gtatgaataa
     2821 acttcagacc ttgctctcct ttg
//
