Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Protein-glutamine gamma-glutamyltransferase 6

Gene

TGM6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 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

A protein-L-glutamine + a protein-L-lysine = a protein with an N6-(gamma-glutamyl)-L-lysine cross-link + NH3.PROSITE-ProRule annotation

Cofactori

Ca2+By similarityNote: Binds up to 3 Ca2+ cations per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi223Calcium 1; via carbonyl oxygenSequence analysis1
Metal bindingi226Calcium 1Sequence analysis1
Metal bindingi228Calcium 1; via carbonyl oxygenSequence analysis1
Active sitei274PROSITE-ProRule annotation1
Metal bindingi303Calcium 2By similarity1
Metal bindingi305Calcium 2By similarity1
Metal bindingi307Calcium 2By similarity1
Metal bindingi309Calcium 2; via carbonyl oxygenBy similarity1
Metal bindingi327Calcium 2By similarity1
Active sitei333PROSITE-ProRule annotation1
Active sitei356PROSITE-ProRule annotation1
Metal bindingi396Calcium 3By similarity1
Metal bindingi417Calcium 3; via carbonyl oxygenBy similarity1
Metal bindingi445Calcium 3By similarity1
Metal bindingi450Calcium 3By similarity1

GO - Molecular functioni

  • metal ion binding Source: UniProtKB-KW
  • protein-glutamine gamma-glutamyltransferase activity Source: MGI

GO - Biological processi

Keywordsi

Molecular functionAcyltransferase, Transferase
LigandCalcium, 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
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000166948.9.
HGNCiHGNC:16255. TGM6.

Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia 35 (SCA35)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613908
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072179111R → C in SCA35; impairs transglutaminase activity. 1 PublicationCorresponds to variant dbSNP:rs372250159Ensembl.1
Natural variantiVAR_065360327D → G in SCA35; decreased transglutaminase activity; decreased protein stability. 2 PublicationsCorresponds to variant dbSNP:rs387907098Ensembl.1
Natural variantiVAR_072180510D → H in SCA35; impairs transglutaminase activity. 2 PublicationsCorresponds to variant dbSNP:rs201964784Ensembl.1
Natural variantiVAR_065361517L → W in SCA35; decreased transglutaminase activity; decreased protein stability. 2 PublicationsCorresponds to variant dbSNP:rs387907097Ensembl.1
Natural variantiVAR_072181574Missing in SCA35; impairs transglutaminase activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNETi343641.
MalaCardsiTGM6.
MIMi613908. phenotype.
OpenTargetsiENSG00000166948.
Orphaneti319465. Inherited acute myeloid leukemia.
276193. Spinocerebellar ataxia type 35.
PharmGKBiPA38098.

Chemistry databases

ChEMBLiCHEMBL2079852.
DrugBankiDB00130. L-Glutamine.

Polymorphism and mutation databases

BioMutaiTGM6.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002137151 – 706Protein-glutamine gamma-glutamyltransferase 6Add BLAST706

Proteomic databases

PaxDbiO95932.
PeptideAtlasiO95932.
PRIDEiO95932.
TopDownProteomicsiO95932-1. [O95932-1]

PTM databases

iPTMnetiO95932.
PhosphoSitePlusiO95932.

Expressioni

Gene expression databases

BgeeiENSG00000166948.
CleanExiHS_TGM6.
GenevisibleiO95932. HS.

Organism-specific databases

HPAiHPA059196.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000202625.

Chemistry databases

BindingDBiO95932.

Structurei

3D structure databases

ProteinModelPortaliO95932.
SMRiO95932.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiENOG410IFMV. Eukaryota.
ENOG410XQEZ. LUCA.
GeneTreeiENSGT00760000119108.
HOGENOMiHOG000231695.
HOVERGENiHBG004342.
InParanoidiO95932.
KOiK05624.
OMAiNESWFAR.
OrthoDBiEOG091G030K.
PhylomeDBiO95932.
TreeFamiTF324278.

Family and domain databases

Gene3Di2.60.40.10. 3 hits.
3.90.260.10. 1 hit.
InterProiView protein in InterPro
IPR013783. Ig-like_fold.
IPR014756. Ig_E-set.
IPR002931. Transglutaminase-like.
IPR036985. Transglutaminase-like_sf.
IPR023608. Transglutaminase_animal.
IPR013808. Transglutaminase_AS.
IPR008958. Transglutaminase_C.
IPR036238. Transglutaminase_C_sf.
IPR001102. Transglutaminase_N.
PfamiView protein in Pfam
PF00927. Transglut_C. 2 hits.
PF01841. Transglut_core. 1 hit.
PF00868. Transglut_N. 1 hit.
PIRSFiPIRSF000459. TGM_EBP42. 1 hit.
SMARTiView protein in SMART
SM00460. TGc. 1 hit.
SUPFAMiSSF49309. SSF49309. 2 hits.
SSF81296. SSF81296. 1 hit.
PROSITEiView protein in PROSITE
PS00547. TRANSGLUTAMINASES. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_01325058M → V1 PublicationCorresponds to variant dbSNP:rs2076405Ensembl.1
Natural variantiVAR_072179111R → C in SCA35; impairs transglutaminase activity. 1 PublicationCorresponds to variant dbSNP:rs372250159Ensembl.1
Natural variantiVAR_065360327D → G in SCA35; decreased transglutaminase activity; decreased protein stability. 2 PublicationsCorresponds to variant dbSNP:rs387907098Ensembl.1
Natural variantiVAR_072180510D → H in SCA35; impairs transglutaminase activity. 2 PublicationsCorresponds to variant dbSNP:rs201964784Ensembl.1
Natural variantiVAR_065361517L → W in SCA35; decreased transglutaminase activity; decreased protein stability. 2 PublicationsCorresponds to variant dbSNP:rs387907097Ensembl.1
Natural variantiVAR_072181574Missing in SCA35; impairs transglutaminase activity. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_015103612 – 625VLGPA…AVTVE → RAYPGASGEGLSPV in isoform 2. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_015104626 – 706Missing in isoform 2. 1 PublicationAdd BLAST81

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF540969 mRNA. Translation: AAQ10751.1.
AF540970 mRNA. Translation: AAQ10752.1.
AL049650 Genomic DNA. No translation available.
AL031678 Genomic DNA. No translation available.
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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTGM3L_HUMAN
AccessioniPrimary (citable) accession number: O95932
Secondary accession number(s): Q5JXU4
, Q5JXU5, Q719M2, Q719M3, Q9Y4U8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 10, 2002
Last sequence update: August 16, 2005
Last modified: November 22, 2017
This is version 150 of the entry and version 3 of the sequence. See 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