LOCUS       NM_198994               2299 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.
ACCESSION   NM_198994 XM_293156
VERSION     NM_198994.3
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 2299)
  AUTHORS   Cheng,H.L., Dong,H.L., Liu,D.S., Ni,W., Ma,Y., Yang,L., Du,Y.C.,
            Chen,D.F., Dong,Y. and Wu,Z.Y.
  TITLE     TGM6 might not be a specific causative gene for spinocerebellar
            ataxia resulting from genetic analysis and functional study
  JOURNAL   Gene 779, 145495 (2021)
   PUBMED   33588035
  REMARK    GeneRIF: TGM6 might not be a specific causative gene for
            spinocerebellar ataxia resulting from genetic analysis and
            functional study.
REFERENCE   2  (bases 1 to 2299)
  AUTHORS   Chen,K., Lu,Y., Peng,F., Yu,H.L., Wu,J.Y., Tan,Y. and Zhao,Y.X.
  TITLE     TGM6 variants in Parkinson's disease: clinical findings and
            functional evidence
  JOURNAL   J Integr Neurosci 19 (1), 51-64 (2020)
   PUBMED   32259886
  REMARK    GeneRIF: TGM6 variants in Parkinson's disease: clinical findings
            and functional evidence.
REFERENCE   3  (bases 1 to 2299)
  AUTHORS   Fung,J.L.F., Tsang,M.H.Y., Leung,G.K.C., Yeung,K.S., Mak,C.C.Y.,
            Fung,C.W., Chan,S.H.S., Yu,M.H.C. and Chung,B.H.Y.
  TITLE     A significant inflation in TGM6 genetic risk casts doubt in its
            causation in spinocerebellar ataxia type 35
  JOURNAL   Parkinsonism Relat Disord 63, 42-45 (2019)
   PUBMED   30670339
  REMARK    GeneRIF: we identified 8 families with reported TGM6 variants
            sharing no features of Spinocerebellar ataxia 35
REFERENCE   4  (bases 1 to 2299)
  AUTHORS   Zheng,R., Li,Z., He,F., Liu,H., Chen,J., Chen,J., Xie,X., Zhou,J.,
            Chen,H., Wu,X., Wu,J., Chen,B., Liu,Y., Cui,H., Fan,L., Sha,W.,
            Liu,Y., Wang,J., Huang,X., Zhang,L., Xu,F., Wang,J., Feng,Y.,
            Qin,L., Yang,H., Liu,Z., Cui,Z., Liu,F., Chen,X., Gao,S., Sun,S.,
            Shi,Y. and Ge,B.
  TITLE     Genome-wide association study identifies two risk loci for
            tuberculosis in Han Chinese
  JOURNAL   Nat Commun 9 (1), 4072 (2018)
   PUBMED   30287856
  REMARK    GeneRIF: rs6114027 risk allele related to decreased transcripts in
            peripheral blood mononuclear cells from pulmonary tuberculosis
            patients
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2299)
  AUTHORS   Nibbeling,E.A.R., Duarri,A., Verschuuren-Bemelmans,C.C.,
            Fokkens,M.R., Karjalainen,J.M., Smeets,C.J.L.M., de
            Boer-Bergsma,J.J., van der Vries,G., Dooijes,D., Bampi,G.B., van
            Diemen,C., Brunt,E., Ippel,E., Kremer,B., Vlak,M., Adir,N.,
            Wijmenga,C., van de Warrenburg,B.P.C., Franke,L., Sinke,R.J. and
            Verbeek,D.S.
  TITLE     Exome sequencing and network analysis identifies shared mechanisms
            underlying spinocerebellar ataxia
  JOURNAL   Brain 140 (11), 2860-2878 (2017)
   PUBMED   29053796
REFERENCE   6  (bases 1 to 2299)
  AUTHORS   Wang,J.L., Yang,X., Xia,K., Hu,Z.M., Weng,L., Jin,X., Jiang,H.,
            Zhang,P., Shen,L., Guo,J.F., Li,N., Li,Y.R., Lei,L.F., Zhou,J.,
            Du,J., Zhou,Y.F., Pan,Q., Wang,J., Wang,J., Li,R.Q. and Tang,B.S.
  TITLE     TGM6 identified as a novel causative gene of spinocerebellar
            ataxias using exome sequencing
  JOURNAL   Brain 133 (Pt 12), 3510-3518 (2010)
   PUBMED   21106500
  REMARK    GeneRIF: The finding of TGM6 as a novel causative gene of
            spinocerebellar ataxia illustrates whole-exome sequencing of
            affected individuals from one family
REFERENCE   7  (bases 1 to 2299)
  AUTHORS   Stamnaes,J., Dorum,S., Fleckenstein,B., Aeschlimann,D. and
            Sollid,L.M.
  TITLE     Gluten T cell epitope targeting by TG3 and TG6; implications for
            dermatitis herpetiformis and gluten ataxia
  JOURNAL   Amino Acids 39 (5), 1183-1191 (2010)
   PUBMED   20300788
  REMARK    GeneRIF: findings lend credence to the notion that TG3 and TG6 are
            involved in the gluten-induced autoimmune responses of dermatitis
            herpetiformis and gluten ataxia
REFERENCE   8  (bases 1 to 2299)
  AUTHORS   Hadjivassiliou,M., Aeschlimann,P., Strigun,A., Sanders,D.S.,
            Woodroofe,N. and Aeschlimann,D.
  TITLE     Autoantibodies in gluten ataxia recognize a novel neuronal
            transglutaminase
  JOURNAL   Ann Neurol 64 (3), 332-343 (2008)
   PUBMED   18825674
  REMARK    GeneRIF: Antibodies against transglutaminase 6 can serve as marker
            antibodies to identify a subgroup of patients with gluten
            sensitivity who may be at risk for development of neurological
            disease.
REFERENCE   9  (bases 1 to 2299)
  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   10 (bases 1 to 2299)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL031678.2 and AF540969.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_198994.2.
            
            Summary: The protein encoded by this gene belongs to the
            transglutaminase superfamily. It catalyzes the cross-linking of
            proteins and the conjugation of polyamines to proteins. Mutations
            in this gene are associated with spinocerebellar ataxia type 35
            (SCA35). Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Dec 2011].
            
            Transcript Variant: This variant (1) 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 :: AF540969.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000202625.7/ ENSP00000202625.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 AL031678.2         23801-23807         c
            8-239               AF540969.1         1-232
            240-240             AL031678.2         10092-10092         c
            241-2299            AF540969.1         234-2292
FEATURES             Location/Qualifiers
     source          1..2299
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..2299
                     /gene="TGM6"
                     /gene_synonym="dJ734P14.3; SCA35; TG6; TGM3L; TGY"
                     /note="transglutaminase 6"
                     /db_xref="GeneID:343641"
                     /db_xref="HGNC:HGNC:16255"
                     /db_xref="MIM:613900"
     exon            1..75
                     /gene="TGM6"
                     /gene_synonym="dJ734P14.3; SCA35; TG6; TGM3L; TGY"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..2189
                     /gene="TGM6"
                     /gene_synonym="dJ734P14.3; SCA35; TG6; TGM3L; TGY"
                     /EC_number="2.3.2.13"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein-glutamine gamma-glutamyltransferase 6;
                     transglutaminase y; TGase Y; TGase-6"
                     /codon_start=1
                     /product="protein-glutamine gamma-glutamyltransferase 6
                     isoform 1"
                     /protein_id="NP_945345.2"
                     /db_xref="CCDS:CCDS13025.1"
                     /db_xref="GeneID:343641"
                     /db_xref="HGNC:HGNC:16255"
                     /db_xref="MIM:613900"
                     /translation="MAGIRVTKVDWQRSRNGAAHHTQEYPCPELVVRRGQSFSLTLEL
                     SRALDCEEILIFTMETGPRASEALHTKAVFQTSELERGEGWTAAREAQMEKTLTVSLA
                     SPPSAVIGRYLLSIRLSSHRKHSNRRLGEFVLLFNPWCAEDDVFLASEEERQEYVLSD
                     SGIIFRGVEKHIRAQGWNYGQFEEDILNICLSILDRSPGHQNNPATDVSCRHNPIYVT
                     RVISAMVNSNNDRGVVQGQWQGKYGGGTSPLHWRGSVAILQKWLKGRYKPVKYGQCWV
                     FAGVLCTVLRCLGIATRVVSNFNSAHDTDQNLSVDKYVDSFGRTLEDLTEDSMWNFHV
                     WNESWFARQDLGPSYNGWQVLDATPQEESEGVFRCGPASVTAIREGDVHLAHDGPFVF
                     AEVNADYITWLWHEDESRERVYSNTKKIGRCISTKAVGSDSRVDITDLYKYPEGSRKE
                     RQVYSKAVNRLFGVEASGRRIWIRRAGGRCLWRDDLLEPATKPSIAGKFKVLEPPMLG
                     HDLRLALCLANLTSRAQRVRVNLSGATILYTRKPVAEILHESHAVRLGPQEEKRIPIT
                     ISYSKYKEDLTEDKKILLAAMCLVTKGEKLLVEKDITLEDFITIKVLGPAMVGVAVTV
                     EVTVVNPLIERVKDCALMVEGSGLLQEQLSIDVPTLEPQERASVQFDITPSKSGPRQL
                     QVDLVSPHFPDIKGFVIVHVATAK"
     exon            76..249
                     /gene="TGM6"
                     /gene_synonym="dJ734P14.3; SCA35; TG6; TGM3L; TGY"
                     /inference="alignment:Splign:2.1.0"
     exon            250..492
                     /gene="TGM6"
                     /gene_synonym="dJ734P14.3; SCA35; TG6; TGM3L; TGY"
                     /inference="alignment:Splign:2.1.0"
     exon            493..611
                     /gene="TGM6"
                     /gene_synonym="dJ734P14.3; SCA35; TG6; TGM3L; TGY"
                     /inference="alignment:Splign:2.1.0"
     exon            612..740
                     /gene="TGM6"
                     /gene_synonym="dJ734P14.3; SCA35; TG6; TGM3L; TGY"
                     /inference="alignment:Splign:2.1.0"
     exon            741..918
                     /gene="TGM6"
                     /gene_synonym="dJ734P14.3; SCA35; TG6; TGM3L; TGY"
                     /inference="alignment:Splign:2.1.0"
     exon            919..1057
                     /gene="TGM6"
                     /gene_synonym="dJ734P14.3; SCA35; TG6; TGM3L; TGY"
                     /inference="alignment:Splign:2.1.0"
     exon            1058..1161
                     /gene="TGM6"
                     /gene_synonym="dJ734P14.3; SCA35; TG6; TGM3L; TGY"
                     /inference="alignment:Splign:2.1.0"
     exon            1162..1404
                     /gene="TGM6"
                     /gene_synonym="dJ734P14.3; SCA35; TG6; TGM3L; TGY"
                     /inference="alignment:Splign:2.1.0"
     exon            1405..1746
                     /gene="TGM6"
                     /gene_synonym="dJ734P14.3; SCA35; TG6; TGM3L; TGY"
                     /inference="alignment:Splign:2.1.0"
     exon            1747..1901
                     /gene="TGM6"
                     /gene_synonym="dJ734P14.3; SCA35; TG6; TGM3L; TGY"
                     /inference="alignment:Splign:2.1.0"
     exon            1902..2035
                     /gene="TGM6"
                     /gene_synonym="dJ734P14.3; SCA35; TG6; TGM3L; TGY"
                     /inference="alignment:Splign:2.1.0"
     exon            2036..2299
                     /gene="TGM6"
                     /gene_synonym="dJ734P14.3; SCA35; TG6; TGM3L; TGY"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gcgccacact gtcctgacgg tgcacacact gctgtgtgga ggaacagagg agtccagctg
       61 gccttcacat ggcagggatc agagtcacca aggtggactg gcagcggtcg aggaatggcg
      121 ctgcccacca cacccaggag tacccctgcc ctgagctggt ggttcgcagg ggccagtcgt
      181 tcagcctcac gctggagctg agcagagccc tggactgtga ggagatcctc atcttcacga
      241 tggagacagg accccgggct tctgaggccc tccacaccaa agctgtgttc cagacatcgg
      301 agctggagcg gggtgagggc tggacagcag caagggaggc tcagatggag aaaactctga
      361 ccgtcagtct cgccagccct cccagtgctg tcattggccg ctacctgctg agcatcaggc
      421 tttcctctca ccgcaaacac agcaaccgga ggctgggcga gtttgttctc cttttcaacc
      481 catggtgtgc agaggacgat gtgtttctgg cctcagagga ggagagacag gagtacgtgc
      541 tcagcgacag cggcatcatc ttccgaggcg tggagaagca catacgagcc cagggctgga
      601 actacgggca gtttgaggag gacatcctga acatctgcct ctccatcctg gatcgaagcc
      661 ccggtcacca aaacaaccca gccaccgacg tgtcctgccg ccacaacccc atctacgtca
      721 ccagggtcat cagtgccatg gtgaacagca acaacgaccg aggtgtggtg caaggacagt
      781 ggcagggcaa gtacggcggc ggcaccagcc cgctgcactg gcgcggcagc gtggccattc
      841 tgcagaagtg gctcaagggc aggtacaagc cagtcaagta cggccagtgc tgggtcttcg
      901 ccggagtcct gtgcacagtc ctcaggtgct tggggatagc cacacgggtc gtgtccaact
      961 tcaactcagc ccacgacaca gaccagaacc tgagtgtgga caaatacgtg gactccttcg
     1021 ggcggaccct ggaggacctg acagaagaca gcatgtggaa tttccatgtc tggaatgaga
     1081 gctggtttgc ccggcaggac ctaggcccct cttacaatgg ctggcaggtt ctggatgcca
     1141 ccccccagga ggagagtgaa ggtgtgttcc ggtgcggccc agcctcagtc accgccatcc
     1201 gcgagggtga tgtgcacctg gctcacgatg gccccttcgt gtttgcggag gtcaacgccg
     1261 actacatcac ctggctgtgg cacgaggatg agagccggga gcgtgtatac tcaaacacga
     1321 agaagattgg gagatgcatc agcaccaagg cggtgggcag tgactcccgc gtggacatca
     1381 ctgacctcta caagtatccg gaagggtccc ggaaagagag gcaggtgtac agcaaggcgg
     1441 tgaacaggct gttcggcgtg gaagcctctg gaaggagaat ctggatccgc agggctgggg
     1501 gtcgctgtct ctggcgtgac gacctcctgg agcctgccac caagcccagc atcgctggca
     1561 agttcaaggt gctagagcct cccatgctgg gccacgacct gagactggcc ctgtgcttgg
     1621 ccaacctcac ctcccgggcc cagcgggtga gggtcaacct gagcggtgcc accatcctct
     1681 atacccgcaa gccagtggca gagatcctgc atgaatccca cgccgtgagg ctggggccgc
     1741 aagaagagaa gagaatccca attacaatat cttactctaa gtataaagaa gacctgacag
     1801 aggacaagaa gatcctgttg gctgccatgt gccttgtcac caaaggagag aagcttctgg
     1861 tggagaagga cattactcta gaggacttca tcaccatcaa ggttctgggc ccagccatgg
     1921 tgggagtggc agttacagtg gaagtgacag tagtcaaccc cctcatagag agagtgaagg
     1981 actgtgcgct gatggtggag ggcagcggcc ttctccagga acagctcagc atcgacgtgc
     2041 ctaccctgga gcctcaggag agggcctcag tccagtttga catcaccccc tccaaaagtg
     2101 gcccaaggca gctgcaggtg gaccttgtaa gccctcactt cccggacatc aagggctttg
     2161 tgatcgtcca tgtggccact gccaagtgat ggatcatgag ggactgagag gggtggattt
     2221 ggcccctgtc ctcctcctgc ccattctttg tctcttccac atgggagcca ggaggcctca
     2281 gttaatcctg cctcaacct
//
