LOCUS       NM_000359               2744 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens transglutaminase 1 (TGM1), mRNA.
ACCESSION   NM_000359
VERSION     NM_000359.3
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 2744)
  AUTHORS   Ebrahimi Samani,S., Tatsukawa,H., Hitomi,K. and Kaartinen,M.T.
  TITLE     Transglutaminase 1: Emerging Functions beyond Skin
  JOURNAL   Int J Mol Sci 25 (19), 10306 (2024)
   PUBMED   39408635
  REMARK    GeneRIF: Transglutaminase 1: Emerging Functions beyond Skin.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2744)
  AUTHORS   Hou,J., Mei,K., Wang,D., Ke,S., Chen,X., Shang,J., Li,G., Gao,Y.,
            Xiong,H., Zhang,H., Chen,L., Zhang,W., Deng,Y., Hong,X., Liu,D.A.,
            Hu,T., Guo,W. and Zhan,Y.Y.
  TITLE     TGM1/3-mediated transamidation of Exo70 promotes tumor metastasis
            upon LKB1 inactivation
  JOURNAL   Cell Rep 43 (8), 114604 (2024)
   PUBMED   39146185
  REMARK    GeneRIF: TGM1/3-mediated transamidation of Exo70 promotes tumor
            metastasis upon LKB1 inactivation.
REFERENCE   3  (bases 1 to 2744)
  AUTHORS   Wu,R., Li,D., Zhang,S., Wang,J., Chen,K., Tuo,Z., Miyamoto,A.,
            Yoo,K.H., Wei,W., Zhang,C., Feng,D. and Han,P.
  TITLE     A pan-cancer analysis of the oncogenic and immunological roles of
            transglutaminase 1 (TGM1) in human cancer
  JOURNAL   J Cancer Res Clin Oncol 150 (3), 123 (2024)
   PUBMED   38472489
  REMARK    GeneRIF: A pan-cancer analysis of the oncogenic and immunological
            roles of transglutaminase 1 (TGM1) in human cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2744)
  AUTHORS   Zhou,X., Xia,Q., Chen,M., Zhang,X., Huang,M., Zheng,X., Wang,S.,
            Wu,B. and Du,Z.
  TITLE     THBS1 promotes angiogenesis and accelerates ESCC malignant
            progression by the HIF-1/VEGF signaling pathway
  JOURNAL   Cell Biol Int 48 (3), 311-324 (2024)
   PUBMED   38233982
  REMARK    GeneRIF: THBS1 promotes angiogenesis and accelerates ESCC malignant
            progression by the HIF-1/VEGF signaling pathway.
REFERENCE   5  (bases 1 to 2744)
  AUTHORS   Chegini,M., Eslami,M., Motavaf,M., Memarsadeghi,O., Hoseini,A.,
            Torab,E., Hoseininasab,F., Amiri,H., Ramandi,S., Mostofinezhad,N.,
            Keivani,F., Ghaffari,S.R. and Rafati,M.
  TITLE     Whole exome sequencing identifies novel pathogenic variants in TGM1
            and ALOX12B in patients with hereditary ichthyosis
  JOURNAL   Arch Dermatol Res 316 (1), 24 (2023)
   PUBMED   38060040
  REMARK    GeneRIF: Whole exome sequencing identifies novel pathogenic
            variants in TGM1 and ALOX12B in patients with hereditary
            ichthyosis.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2744)
  AUTHORS   Richard,G.
  TITLE     Autosomal Recessive Congenital Ichthyosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301593
REFERENCE   7  (bases 1 to 2744)
  AUTHORS   Schroeder,W.T., Thacher,S.M., Stewart-Galetka,S., Annarella,M.,
            Chema,D., Siciliano,M.J., Davies,P.J., Tang,H.Y., Sowa,B.A. and
            Duvic,M.
  TITLE     Type I keratinocyte transglutaminase: expression in human skin and
            psoriasis
  JOURNAL   J Invest Dermatol 99 (1), 27-34 (1992)
   PUBMED   1351505
REFERENCE   8  (bases 1 to 2744)
  AUTHORS   Polakowska,R.R., Eickbush,T., Falciano,V., Razvi,F. and
            Goldsmith,L.A.
  TITLE     Organization and evolution of the human epidermal keratinocyte
            transglutaminase I gene
  JOURNAL   Proc Natl Acad Sci U S A 89 (10), 4476-4480 (1992)
   PUBMED   1350092
REFERENCE   9  (bases 1 to 2744)
  AUTHORS   Kim,I.G., McBride,O.W., Wang,M., Kim,S.Y., Idler,W.W. and
            Steinert,P.M.
  TITLE     Structure and organization of the human transglutaminase 1 gene
  JOURNAL   J Biol Chem 267 (11), 7710-7717 (1992)
   PUBMED   1348508
REFERENCE   10 (bases 1 to 2744)
  AUTHORS   Phillips,M.A., Stewart,B.E. and Rice,R.H.
  TITLE     Genomic structure of keratinocyte transglutaminase. Recruitment of
            new exon for modified function
  JOURNAL   J Biol Chem 267 (4), 2282-2286 (1992)
   PUBMED   1346394
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL096870.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000359.2.
            
            Summary: The protein encoded by this gene is a membrane protein
            that catalyzes the addition of an alkyl group from an akylamine to
            a glutamine residue of a protein, forming an alkylglutamine in the
            protein. This protein alkylation leads to crosslinking of proteins
            and catenation of polyamines to proteins. This gene contains either
            one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations
            in this gene have been associated with autosomal recessive lamellar
            ichthyosis (LI) and nonbullous congenital ichthyosiform
            erythroderma (NCIE). [provided by RefSeq, Jul 2008].
            
            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 :: BC034699.1, AK315819.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000206765.11/ ENSP00000206765.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-89                AL096870.5         126778-126866
            90-410              AL096870.5         127601-127921
            411-599             AL096870.5         128072-128260
            600-848             AL096870.5         129257-129505
            849-967             AL096870.5         129897-130015
            968-1075            AL096870.5         130144-130251
            1076-1250           AL096870.5         130706-130880
            1251-1389           AL096870.5         131282-131420
            1390-1493           AL096870.5         131567-131670
            1494-1582           AL096870.5         133878-133966
            1583-1736           AL096870.5         134438-134591
            1737-2018           AL096870.5         134702-134983
            2019-2179           AL096870.5         135131-135291
            2180-2316           AL096870.5         135667-135803
            2317-2744           AL096870.5         140414-140841
FEATURES             Location/Qualifiers
     source          1..2744
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     gene            1..2744
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /note="transglutaminase 1"
                     /db_xref="GeneID:7051"
                     /db_xref="HGNC:HGNC:11777"
                     /db_xref="MIM:190195"
     exon            1..89
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /inference="alignment:Splign:2.1.0"
     exon            90..410
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /inference="alignment:Splign:2.1.0"
     CDS             92..2545
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /EC_number="2.3.2.13"
                     /note="transglutaminase K; TGase K; epidermal TGase;
                     transglutaminase, keratinocyte; TG(K); TGase-1; K
                     polypeptide epidermal type I,
                     protein-glutamine-gamma-glutamyltransferase"
                     /codon_start=1
                     /product="protein-glutamine gamma-glutamyltransferase K"
                     /protein_id="NP_000350.1"
                     /db_xref="CCDS:CCDS9622.1"
                     /db_xref="GeneID:7051"
                     /db_xref="HGNC:HGNC:11777"
                     /db_xref="MIM:190195"
                     /translation="MMDGPRSDVGRWGGNPLQPPTTPSPEPEPEPDGRSRRGGGRSFW
                     ARCCGCCSCRNAADDDWGPEPSDSRGRGSSSGTRRPGSRGSDSRRPVSRGSGVNAAGD
                     GTIREGMLVVNGVDLLSSRSDQNRREHHTDEYEYDELIVRRGQPFHMLLLLSRTYESS
                     DRITLELLIGNNPEVGKGTHVIIPVGKGGSGGWKAQVVKASGQNLNLRVHTSPNAIIG
                     KFQFTVRTQSDAGEFQLPFDPRNEIYILFNPWCPEDIVYVDHEDWRQEYVLNESGRIY
                     YGTEAQIGERTWNYGQFDHGVLDACLYILDRRGMPYGGRGDPVNVSRVISAMVNSLDD
                     NGVLIGNWSGDYSRGTNPSAWVGSVEILLSYLRTGYSVPYGQCWVFAGVTTTVLRCLG
                     LATRTVTNFNSAHDTDTSLTMDIYFDENMKPLEHLNHDSVWNFHVWNDCWMKRPDLPS
                     GFDGWQVVDATPQETSSGIFCCGPCSVESIKNGLVYMKYDTPFIFAEVNSDKVYWQRQ
                     DDGSFKIVYVEEKAIGTLIVTKAISSNMREDITYLYKHPEGSDAERKAVETAAAHGSK
                     PNVYANRGSAEDVAMQVEAQDAVMGQDLMVSVMLINHSSSRRTVKLHLYLSVTFYTGV
                     SGTIFKETKKEVELAPGASDRVTMPVAYKEYRPHLVDQGAMLLNVSGHVKESGQVLAK
                     QHTFRLRTPDLSLTLLGAAVVGQECEVQIVFKNPLPVTLTNVVFRLEGSGLQRPKILN
                     VGDIGGNETVTLRQSFVPVRPGPRQLIASLDSPQLSQVHGVIQVDVAPAPGDGGFFSD
                     AGGDSHLGETIPMASRGGA"
     exon            411..599
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /inference="alignment:Splign:2.1.0"
     exon            600..848
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /inference="alignment:Splign:2.1.0"
     exon            849..967
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /inference="alignment:Splign:2.1.0"
     exon            968..1075
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /inference="alignment:Splign:2.1.0"
     exon            1076..1250
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /inference="alignment:Splign:2.1.0"
     exon            1251..1389
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /inference="alignment:Splign:2.1.0"
     exon            1390..1493
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /inference="alignment:Splign:2.1.0"
     exon            1494..1582
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /inference="alignment:Splign:2.1.0"
     exon            1583..1736
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /inference="alignment:Splign:2.1.0"
     exon            1737..2018
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /inference="alignment:Splign:2.1.0"
     exon            2019..2179
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /inference="alignment:Splign:2.1.0"
     exon            2180..2316
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /inference="alignment:Splign:2.1.0"
     exon            2317..2744
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2724..2729
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /note="hexamer: AATAAA"
     polyA_site      2744
                     /gene="TGM1"
                     /gene_synonym="ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK"
                     /note="major polyA site"
ORIGIN      
        1 atccagtctg tgggtcctgt cccatccatc ctgacctgtt ccatctcagc cccaggactc
       61 agtactgcgg ttgccaacac tgctgccagg catgatggat gggccacgtt ccgatgtggg
      121 ccgttggggt ggcaacccct tgcagccccc taccacgcca tctccagagc cagagccaga
      181 gccagacgga cgctctcgca gaggaggagg ccgttccttc tgggctcgct gctgtggctg
      241 ctgttcatgc cgaaatgcgg cagatgacga ctggggacct gaaccctctg actccagggg
      301 tcgagggtcc agctctggca ctcgaagacc tggctcccgg ggctcagact cccgccggcc
      361 tgtatcccgg ggcagcggtg tcaatgcagc tggagatggc accatccgag agggcatgct
      421 agtagtgaac ggtgtggact tgctgagctc gcgctcggac cagaaccgcc gagagcacca
      481 cacagacgag tatgagtacg acgagctgat agtgcgccgc gggcagcctt tccatatgct
      541 cctcctcctg tcccggacct atgaatcctc tgatcgcatc acccttgagt tactcatcgg
      601 aaacaacccc gaggtgggca agggcacgca cgtgatcatc ccagtgggca aggggggcag
      661 tggaggctgg aaagcccagg tggtcaaggc cagtgggcag aatctgaacc tgcgggtcca
      721 cacttccccc aacgccatca tcggcaagtt tcagttcaca gtccgcacac aatcagacgc
      781 tggggagttc cagttgccct ttgacccccg caatgagatc tacatcctct tcaacccctg
      841 gtgcccagag gacattgtgt acgtggacca tgaggattgg cggcaggagt atgttcttaa
      901 tgagtctggg agaatttact acgggaccga agcacagatt ggtgagcgga cctggaacta
      961 cggccagttt gaccacgggg tgctggatgc ctgcttatac atcctggacc ggcgggggat
     1021 gccatatgga ggccgtggag acccagtcaa tgtctcccgg gtcatctctg ccatggtgaa
     1081 ctccctggat gacaatggag tcctgattgg gaactggtct ggtgattact cccgaggcac
     1141 caacccatca gcgtgggtgg gcagcgtgga gatcctgctt agctacctac gcacgggata
     1201 ttccgtcccc tatggccagt gctgggtctt tgctggcgtg accaccacag tgctgcgctg
     1261 cctgggtctg gccacccgta ctgtcaccaa cttcaactcc gcccacgaca cagacacatc
     1321 ccttaccatg gacatctact tcgacgagaa catgaagccc ctggagcacc tgaaccatga
     1381 ttctgtctgg aacttccatg tgtggaacga ctgctggatg aagaggccgg atctgccctc
     1441 gggctttgat gggtggcagg tggtggatgc cacaccccaa gagactagca gtggcatctt
     1501 ctgctgcggc ccctgctctg tggagtccat caagaatggc ctggtctaca tgaagtacga
     1561 cacgcctttc atttttgctg aggtgaatag tgacaaggtg tactggcagc ggcaggatga
     1621 tggcagcttc aagattgttt atgtggagga gaaggccatc ggcacactca ttgtcacaaa
     1681 ggccatcagc tccaacatgc gggaggacat cacctacctc tataagcacc cagaaggctc
     1741 agacgcagag cggaaggcag tagagacagc agcagcccac ggcagcaaac ccaatgtgta
     1801 tgccaaccgg ggctcagcgg aggatgtggc catgcaggtg gaggcacagg acgcggtgat
     1861 ggggcaggat ctgatggtct ctgtgatgct gatcaatcac agcagcagcc gccgcacagt
     1921 gaaactgcac ctctacctct cagtcacttt ctatactggt gtcagtggta ccatcttcaa
     1981 ggagaccaag aaggaagtgg agctggcacc aggggcctcg gaccgtgtga ccatgccagt
     2041 ggcctacaag gaataccggc cccatcttgt ggaccagggg gccatgctgc tcaatgtctc
     2101 aggccacgtc aaggagagcg ggcaggtgct ggccaagcag cacaccttcc gtctgcgcac
     2161 cccagacctc tccctcacgt tactgggagc agcagtggtt ggccaggagt gtgaagtaca
     2221 gattgtcttc aagaaccccc ttcccgtcac cctcaccaat gtcgtcttcc ggctcgaagg
     2281 ctctgggtta cagaggccca agatcctcaa cgttggggac attggaggca atgaaacagt
     2341 gacactgcgc cagtcgtttg tgcctgtgcg accaggcccc cgccagctca ttgccagctt
     2401 ggacagccca cagctctccc aggtgcacgg tgtcatccag gtggatgtgg ccccagcccc
     2461 tggggatggg ggcttcttct cagacgctgg aggtgacagt cacttaggag agaccatccc
     2521 tatggcatct cgaggtggag cttagccccg tgccaggagc aatgggactg gagtcagatg
     2581 agcaaggaca ttgccccaag ataggggcac actacagagc agctccccag gagctcaggt
     2641 ggggagtcca gggctcccgg agggggagtc cagggctccc ggagagggag tcagtcttca
     2701 cttgcactgg gggaacagat gctaataaac tgttttttaa tgaa
//
