Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

O95932 (TGM3L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 123. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:TGM6
Synonyms:TGM3L
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length706 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Catalytic activity

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

Cofactor

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3

Sequence similarities

Belongs to the transglutaminase superfamily. Transglutaminase family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O95932-1)

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.
Isoform 2 (identifier: O95932-2)

Also known as: Short;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 706706Protein-glutamine gamma-glutamyltransferase 6
PRO_0000213715

Sites

Active site2741 By similarity
Active site3331 By similarity
Active site3561 By similarity
Metal binding2231Calcium 1; via carbonyl oxygen Potential
Metal binding2261Calcium 1 Potential
Metal binding2281Calcium 1; via carbonyl oxygen Potential
Metal binding3031Calcium 2 By similarity
Metal binding3051Calcium 2 By similarity
Metal binding3071Calcium 2 By similarity
Metal binding3091Calcium 2; via carbonyl oxygen By similarity
Metal binding3271Calcium 2 By similarity
Metal binding3961Calcium 3 By similarity
Metal binding4171Calcium 3; via carbonyl oxygen By similarity
Metal binding4451Calcium 3 By similarity
Metal binding4501Calcium 3 By similarity

Natural variations

Alternative sequence612 – 62514VLGPA…AVTVE → RAYPGASGEGLSPV in isoform 2.
VSP_015103
Alternative sequence626 – 70681Missing in isoform 2.
VSP_015104
Natural variant581M → V. Ref.1
Corresponds to variant rs2076405 [ dbSNP | Ensembl ].
VAR_013250
Natural variant3271D → G in SCA35. Ref.3
VAR_065360
Natural variant5171L → W in SCA35. Ref.3
VAR_065361

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Long) [UniParc].

Last modified August 16, 2005. Version 3.
Checksum: 97BBE2043C5FF834

FASTA70679,312
        10         20         30         40         50         60 
MAGIRVTKVD WQRSRNGAAH HTQEYPCPEL VVRRGQSFSL TLELSRALDC EEILIFTMET 

        70         80         90        100        110        120 
GPRASEALHT KAVFQTSELE RGEGWTAARE AQMEKTLTVS LASPPSAVIG RYLLSIRLSS 

       130        140        150        160        170        180 
HRKHSNRRLG EFVLLFNPWC AEDDVFLASE EERQEYVLSD SGIIFRGVEK HIRAQGWNYG 

       190        200        210        220        230        240 
QFEEDILNIC LSILDRSPGH QNNPATDVSC RHNPIYVTRV ISAMVNSNND RGVVQGQWQG 

       250        260        270        280        290        300 
KYGGGTSPLH WRGSVAILQK WLKGRYKPVK YGQCWVFAGV LCTVLRCLGI ATRVVSNFNS 

       310        320        330        340        350        360 
AHDTDQNLSV DKYVDSFGRT LEDLTEDSMW NFHVWNESWF ARQDLGPSYN GWQVLDATPQ 

       370        380        390        400        410        420 
EESEGVFRCG PASVTAIREG DVHLAHDGPF VFAEVNADYI TWLWHEDESR ERVYSNTKKI 

       430        440        450        460        470        480 
GRCISTKAVG SDSRVDITDL YKYPEGSRKE RQVYSKAVNR LFGVEASGRR IWIRRAGGRC 

       490        500        510        520        530        540 
LWRDDLLEPA TKPSIAGKFK VLEPPMLGHD LRLALCLANL TSRAQRVRVN LSGATILYTR 

       550        560        570        580        590        600 
KPVAEILHES HAVRLGPQEE KRIPITISYS KYKEDLTEDK KILLAAMCLV TKGEKLLVEK 

       610        620        630        640        650        660 
DITLEDFITI KVLGPAMVGV AVTVEVTVVN PLIERVKDCA LMVEGSGLLQ EQLSIDVPTL 

       670        680        690        700 
EPQERASVQF DITPSKSGPR QLQVDLVSPH FPDIKGFVIV HVATAK 

« Hide

Isoform 2 (Short) [UniParc].

Checksum: 4E91DB6E8EFBEBAA
Show »

FASTA62570,516

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001241663.1. NM_001254734.1.
NP_945345.2. NM_198994.2.
UniGeneHs.452039.

3D structure databases

ProteinModelPortalO95932.
SMRO95932. Positions 2-703.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000202625.

Chemistry

ChEMBLCHEMBL2079852.
DrugBankDB00130. L-Glutamine.

PTM databases

PhosphoSiteO95932.

Proteomic databases

PaxDbO95932.
PRIDEO95932.

Protocols and materials databases

DNASU343641.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000202625; ENSP00000202625; ENSG00000166948. [O95932-1]
ENST00000381423; ENSP00000370831; ENSG00000166948. [O95932-2]
GeneID343641.
KEGGhsa:343641.
UCSCuc002wfy.1. human. [O95932-1]
uc010gal.1. human. [O95932-2]

Organism-specific databases

CTD343641.
GeneCardsGC20P002309.
H-InvDBHIX0040537.
HGNCHGNC:16255. TGM6.
HPAHPA059196.
MIM613900. gene.
613908. phenotype.
neXtProtNX_O95932.
Orphanet276193. Spinocerebellar ataxia type 35.
PharmGKBPA38098.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG80379.
HOGENOMHOG000231695.
HOVERGENHBG004342.
InParanoidO95932.
KOK05624.
OMAWRGSVAI.
OrthoDBEOG7WT40M.
PhylomeDBO95932.
TreeFamTF324278.

Gene expression databases

BgeeO95932.
CleanExHS_TGM6.
GenevestigatorO95932.

Family and domain databases

Gene3D2.60.40.10. 3 hits.
3.90.260.10. 1 hit.
InterProIPR023608. 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]
PANTHERPTHR11590. PTHR11590. 1 hit.
PfamPF00927. Transglut_C. 2 hits.
PF01841. Transglut_core. 1 hit.
PF00868. Transglut_N. 1 hit.
[Graphical view]
PIRSFPIRSF000459. TGM_EBP42. 1 hit.
SMARTSM00460. TGc. 1 hit.
[Graphical view]
SUPFAMSSF49309. SSF49309. 2 hits.
SSF81296. SSF81296. 1 hit.
PROSITEPS00547. TRANSGLUTAMINASES. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi343641.
NextBio98594.
PROO95932.
SOURCESearch...

Entry information

Entry nameTGM3L_HUMAN
AccessionPrimary (citable) accession number: O95932
Secondary accession number(s): Q5JXU4 expand/collapse secondary AC list , Q5JXU5, Q719M2, Q719M3, Q9Y4U8
Entry history
Integrated into UniProtKB/Swiss-Prot: May 10, 2002
Last sequence update: August 16, 2005
Last modified: March 19, 2014
This is version 123 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM