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O95932

- TGM3L_HUMAN

UniProt

O95932 - TGM3L_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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.
Orphaneti319465. Inherited acute myeloid leukemia.
276193. 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.
GeneTreeiENSGT00760000119108.
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

        10         20         30         40         50
MAGIRVTKVD WQRSRNGAAH HTQEYPCPEL VVRRGQSFSL TLELSRALDC
60 70 80 90 100
EEILIFTMET GPRASEALHT KAVFQTSELE RGEGWTAARE AQMEKTLTVS
110 120 130 140 150
LASPPSAVIG RYLLSIRLSS HRKHSNRRLG EFVLLFNPWC AEDDVFLASE
160 170 180 190 200
EERQEYVLSD SGIIFRGVEK HIRAQGWNYG QFEEDILNIC LSILDRSPGH
210 220 230 240 250
QNNPATDVSC RHNPIYVTRV ISAMVNSNND RGVVQGQWQG KYGGGTSPLH
260 270 280 290 300
WRGSVAILQK WLKGRYKPVK YGQCWVFAGV LCTVLRCLGI ATRVVSNFNS
310 320 330 340 350
AHDTDQNLSV DKYVDSFGRT LEDLTEDSMW NFHVWNESWF ARQDLGPSYN
360 370 380 390 400
GWQVLDATPQ EESEGVFRCG PASVTAIREG DVHLAHDGPF VFAEVNADYI
410 420 430 440 450
TWLWHEDESR ERVYSNTKKI GRCISTKAVG SDSRVDITDL YKYPEGSRKE
460 470 480 490 500
RQVYSKAVNR LFGVEASGRR IWIRRAGGRC LWRDDLLEPA TKPSIAGKFK
510 520 530 540 550
VLEPPMLGHD LRLALCLANL TSRAQRVRVN LSGATILYTR KPVAEILHES
560 570 580 590 600
HAVRLGPQEE KRIPITISYS KYKEDLTEDK KILLAAMCLV TKGEKLLVEK
610 620 630 640 650
DITLEDFITI KVLGPAMVGV AVTVEVTVVN PLIERVKDCA LMVEGSGLLQ
660 670 680 690 700
EQLSIDVPTL EPQERASVQF DITPSKSGPR QLQVDLVSPH FPDIKGFVIV

HVATAK
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 319465. Inherited acute myeloid leukemia.
276193. Spinocerebellar ataxia type 35.
PharmGKBi PA38098.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG80379.
GeneTreei ENSGT00760000119108.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 127 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