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O95932

- TGM3L_HUMAN

UniProt

O95932 - TGM3L_HUMAN

Protein

Protein-glutamine gamma-glutamyltransferase 6

Gene

TGM6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 3 (16 Aug 2005)
      Previous versions | rss
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    Functioni

    Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.By similarity

    Catalytic activityi

    Protein glutamine + alkylamine = protein N(5)-alkylglutamine + NH3.PROSITE-ProRule annotation

    Cofactori

    Calcium. Binds up to 3 calcium ions per subunit By similarity.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi223 – 2231Calcium 1; via carbonyl oxygenSequence Analysis
    Metal bindingi226 – 2261Calcium 1Sequence Analysis
    Metal bindingi228 – 2281Calcium 1; via carbonyl oxygenSequence Analysis
    Active sitei274 – 2741PROSITE-ProRule annotation
    Metal bindingi303 – 3031Calcium 2By similarity
    Metal bindingi305 – 3051Calcium 2By similarity
    Metal bindingi307 – 3071Calcium 2By similarity
    Metal bindingi309 – 3091Calcium 2; via carbonyl oxygenBy similarity
    Metal bindingi327 – 3271Calcium 2By similarity
    Active sitei333 – 3331PROSITE-ProRule annotation
    Active sitei356 – 3561PROSITE-ProRule annotation
    Metal bindingi396 – 3961Calcium 3By similarity
    Metal bindingi417 – 4171Calcium 3; via carbonyl oxygenBy similarity
    Metal bindingi445 – 4451Calcium 3By similarity
    Metal bindingi450 – 4501Calcium 3By similarity

    GO - Molecular functioni

    1. metal ion binding Source: UniProtKB-KW
    2. protein-glutamine gamma-glutamyltransferase activity Source: MGI

    GO - Biological processi

    1. cell death Source: UniProtKB-KW
    2. peptide cross-linking Source: InterPro

    Keywords - Molecular functioni

    Acyltransferase, Transferase

    Keywords - Ligandi

    Calcium, Metal-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein-glutamine gamma-glutamyltransferase 6 (EC:2.3.2.13)
    Alternative name(s):
    Transglutaminase Y
    Short name:
    TGY
    Short name:
    TGase Y
    Transglutaminase-3-like
    Short name:
    TGase-3-like
    Transglutaminase-6
    Short name:
    TG6
    Short name:
    TGase-6
    Gene namesi
    Name:TGM6
    Synonyms:TGM3L
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:16255. TGM6.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: Ensembl

    Pathology & Biotechi

    Involvement in diseasei

    Spinocerebellar ataxia 35 (SCA35) [MIM:613908]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA35 patients commonly show upper limb involvement and torticollis. There is no cognitive impairment.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti327 – 3271D → G in SCA35. 1 Publication
    VAR_065360
    Natural varianti517 – 5171L → W in SCA35. 1 Publication
    VAR_065361

    Keywords - Diseasei

    Disease mutation, Neurodegeneration, Spinocerebellar ataxia

    Organism-specific databases

    MIMi613908. phenotype.
    Orphaneti276193. Spinocerebellar ataxia type 35.
    PharmGKBiPA38098.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 706706Protein-glutamine gamma-glutamyltransferase 6PRO_0000213715Add
    BLAST

    Proteomic databases

    PaxDbiO95932.
    PRIDEiO95932.

    PTM databases

    PhosphoSiteiO95932.

    Expressioni

    Gene expression databases

    BgeeiO95932.
    CleanExiHS_TGM6.
    GenevestigatoriO95932.

    Organism-specific databases

    HPAiHPA059196.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000202625.

    Structurei

    3D structure databases

    ProteinModelPortaliO95932.
    SMRiO95932. Positions 2-703.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiNOG80379.
    HOGENOMiHOG000231695.
    HOVERGENiHBG004342.
    InParanoidiO95932.
    KOiK05624.
    OMAiWRGSVAI.
    OrthoDBiEOG7WT40M.
    PhylomeDBiO95932.
    TreeFamiTF324278.

    Family and domain databases

    Gene3Di2.60.40.10. 3 hits.
    3.90.260.10. 1 hit.
    InterProiIPR023608. Gln_gamma-glutamylTfrase_euk.
    IPR013783. Ig-like_fold.
    IPR014756. Ig_E-set.
    IPR002931. Transglutaminase-like.
    IPR008958. Transglutaminase_C.
    IPR013808. Transglutaminase_CS.
    IPR001102. Transglutaminase_N.
    [Graphical view]
    PANTHERiPTHR11590. PTHR11590. 1 hit.
    PfamiPF00927. Transglut_C. 2 hits.
    PF01841. Transglut_core. 1 hit.
    PF00868. Transglut_N. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000459. TGM_EBP42. 1 hit.
    SMARTiSM00460. TGc. 1 hit.
    [Graphical view]
    SUPFAMiSSF49309. SSF49309. 2 hits.
    SSF81296. SSF81296. 1 hit.
    PROSITEiPS00547. TRANSGLUTAMINASES. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O95932-1) [UniParc]FASTAAdd to Basket

    Also known as: Long

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAGIRVTKVD WQRSRNGAAH HTQEYPCPEL VVRRGQSFSL TLELSRALDC    50
    EEILIFTMET GPRASEALHT KAVFQTSELE RGEGWTAARE AQMEKTLTVS 100
    LASPPSAVIG RYLLSIRLSS HRKHSNRRLG EFVLLFNPWC AEDDVFLASE 150
    EERQEYVLSD SGIIFRGVEK HIRAQGWNYG QFEEDILNIC LSILDRSPGH 200
    QNNPATDVSC RHNPIYVTRV ISAMVNSNND RGVVQGQWQG KYGGGTSPLH 250
    WRGSVAILQK WLKGRYKPVK YGQCWVFAGV LCTVLRCLGI ATRVVSNFNS 300
    AHDTDQNLSV DKYVDSFGRT LEDLTEDSMW NFHVWNESWF ARQDLGPSYN 350
    GWQVLDATPQ EESEGVFRCG PASVTAIREG DVHLAHDGPF VFAEVNADYI 400
    TWLWHEDESR ERVYSNTKKI GRCISTKAVG SDSRVDITDL YKYPEGSRKE 450
    RQVYSKAVNR LFGVEASGRR IWIRRAGGRC LWRDDLLEPA TKPSIAGKFK 500
    VLEPPMLGHD LRLALCLANL TSRAQRVRVN LSGATILYTR KPVAEILHES 550
    HAVRLGPQEE KRIPITISYS KYKEDLTEDK KILLAAMCLV TKGEKLLVEK 600
    DITLEDFITI KVLGPAMVGV AVTVEVTVVN PLIERVKDCA LMVEGSGLLQ 650
    EQLSIDVPTL EPQERASVQF DITPSKSGPR QLQVDLVSPH FPDIKGFVIV 700
    HVATAK 706
    Length:706
    Mass (Da):79,312
    Last modified:August 16, 2005 - v3
    Checksum:i97BBE2043C5FF834
    GO
    Isoform 2 (identifier: O95932-2) [UniParc]FASTAAdd to Basket

    Also known as: Short

    The sequence of this isoform differs from the canonical sequence as follows:
         612-625: VLGPAMVGVAVTVE → RAYPGASGEGLSPV
         626-706: Missing.

    Show »
    Length:625
    Mass (Da):70,516
    Checksum:i4E91DB6E8EFBEBAA
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti58 – 581M → V.1 Publication
    Corresponds to variant rs2076405 [ dbSNP | Ensembl ].
    VAR_013250
    Natural varianti327 – 3271D → G in SCA35. 1 Publication
    VAR_065360
    Natural varianti517 – 5171L → W in SCA35. 1 Publication
    VAR_065361

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei612 – 62514VLGPA…AVTVE → RAYPGASGEGLSPV in isoform 2. 1 PublicationVSP_015103Add
    BLAST
    Alternative sequencei626 – 70681Missing in isoform 2. 1 PublicationVSP_015104Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF540969 mRNA. Translation: AAQ10751.1.
    AF540970 mRNA. Translation: AAQ10752.1.
    AL049650, AL031678 Genomic DNA. Translation: CAI22576.1.
    AL049650, AL031678 Genomic DNA. Translation: CAI22577.1.
    AL031678, AL049650 Genomic DNA. Translation: CAI22900.1.
    AL031678, AL049650 Genomic DNA. Translation: CAI22901.1.
    CCDSiCCDS13025.1. [O95932-1]
    CCDS58761.1. [O95932-2]
    RefSeqiNP_001241663.1. NM_001254734.1. [O95932-2]
    NP_945345.2. NM_198994.2. [O95932-1]
    UniGeneiHs.452039.

    Genome annotation databases

    EnsembliENST00000202625; ENSP00000202625; ENSG00000166948. [O95932-1]
    ENST00000381423; ENSP00000370831; ENSG00000166948. [O95932-2]
    GeneIDi343641.
    KEGGihsa:343641.
    UCSCiuc002wfy.1. human. [O95932-1]
    uc010gal.1. human. [O95932-2]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF540969 mRNA. Translation: AAQ10751.1 .
    AF540970 mRNA. Translation: AAQ10752.1 .
    AL049650 , AL031678 Genomic DNA. Translation: CAI22576.1 .
    AL049650 , AL031678 Genomic DNA. Translation: CAI22577.1 .
    AL031678 , AL049650 Genomic DNA. Translation: CAI22900.1 .
    AL031678 , AL049650 Genomic DNA. Translation: CAI22901.1 .
    CCDSi CCDS13025.1. [O95932-1 ]
    CCDS58761.1. [O95932-2 ]
    RefSeqi NP_001241663.1. NM_001254734.1. [O95932-2 ]
    NP_945345.2. NM_198994.2. [O95932-1 ]
    UniGenei Hs.452039.

    3D structure databases

    ProteinModelPortali O95932.
    SMRi O95932. Positions 2-703.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000202625.

    Chemistry

    ChEMBLi CHEMBL2079852.
    DrugBanki DB00130. L-Glutamine.

    PTM databases

    PhosphoSitei O95932.

    Proteomic databases

    PaxDbi O95932.
    PRIDEi O95932.

    Protocols and materials databases

    DNASUi 343641.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000202625 ; ENSP00000202625 ; ENSG00000166948 . [O95932-1 ]
    ENST00000381423 ; ENSP00000370831 ; ENSG00000166948 . [O95932-2 ]
    GeneIDi 343641.
    KEGGi hsa:343641.
    UCSCi uc002wfy.1. human. [O95932-1 ]
    uc010gal.1. human. [O95932-2 ]

    Organism-specific databases

    CTDi 343641.
    GeneCardsi GC20P002309.
    H-InvDB HIX0040537.
    HGNCi HGNC:16255. TGM6.
    HPAi HPA059196.
    MIMi 613900. gene.
    613908. phenotype.
    neXtProti NX_O95932.
    Orphaneti 276193. Spinocerebellar ataxia type 35.
    PharmGKBi PA38098.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG80379.
    HOGENOMi HOG000231695.
    HOVERGENi HBG004342.
    InParanoidi O95932.
    KOi K05624.
    OMAi WRGSVAI.
    OrthoDBi EOG7WT40M.
    PhylomeDBi O95932.
    TreeFami TF324278.

    Miscellaneous databases

    GenomeRNAii 343641.
    NextBioi 98594.
    PROi O95932.
    SOURCEi Search...

    Gene expression databases

    Bgeei O95932.
    CleanExi HS_TGM6.
    Genevestigatori O95932.

    Family and domain databases

    Gene3Di 2.60.40.10. 3 hits.
    3.90.260.10. 1 hit.
    InterProi IPR023608. Gln_gamma-glutamylTfrase_euk.
    IPR013783. Ig-like_fold.
    IPR014756. Ig_E-set.
    IPR002931. Transglutaminase-like.
    IPR008958. Transglutaminase_C.
    IPR013808. Transglutaminase_CS.
    IPR001102. Transglutaminase_N.
    [Graphical view ]
    PANTHERi PTHR11590. PTHR11590. 1 hit.
    Pfami PF00927. Transglut_C. 2 hits.
    PF01841. Transglut_core. 1 hit.
    PF00868. Transglut_N. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000459. TGM_EBP42. 1 hit.
    SMARTi SM00460. TGc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49309. SSF49309. 2 hits.
    SSF81296. SSF81296. 1 hit.
    PROSITEi PS00547. TRANSGLUTAMINASES. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel transglutaminase expressed in the nervous system."
      Thomas H., Aeschlimann D.
      Submitted (AUG-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT VAL-58.
      Tissue: Lung.
    2. "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
      , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
      Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing."
      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., Tang B.S.
      Brain 133:3510-3518(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SCA35 GLY-327 AND TRP-517.

    Entry informationi

    Entry nameiTGM3L_HUMAN
    AccessioniPrimary (citable) accession number: O95932
    Secondary accession number(s): Q5JXU4
    , Q5JXU5, Q719M2, Q719M3, Q9Y4U8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 10, 2002
    Last sequence update: August 16, 2005
    Last modified: October 1, 2014
    This is version 126 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 20
      Human chromosome 20: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3