O95932 (TGM3L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	TGM6
Synonyms:	TGM3L

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	706 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Binds 1 calcium ion 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.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Neurodegeneration Spinocerebellar ataxia
Ligand	Calcium Metal-binding
Molecular function	Acyltransferase Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell death Inferred from electronic annotation. Source: UniProtKB-KW peptide cross-linking Inferred from electronic annotation. Source: InterPro
Molecular_function	metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW protein-glutamine gamma-glutamyltransferase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 706	706	Protein-glutamine gamma-glutamyltransferase 6		PRO_0000213715
Sites
	Active site	274	1	By similarity
	Active site	333	1	By similarity
	Active site	356	1	By similarity
	Metal binding	396	1	Calcium By similarity
	Metal binding	398	1	Calcium By similarity
	Metal binding	445	1	Calcium By similarity
	Metal binding	450	1	Calcium By similarity
Natural variations
	Alternative sequence	612 – 625	14	VLGPA…AVTVE → RAYPGASGEGLSPV in isoform 2.		VSP_015103
	Alternative sequence	626 – 706	81	Missing in isoform 2.		VSP_015104
	Natural variant	58	1	M → V. Ref.1 Corresponds to variant rs2076405 [ dbSNP | Ensembl ].		VAR_013250
	Natural variant	327	1	D → G in SCA35. Ref.3		VAR_065360
	Natural variant	517	1	L → W in SCA35. Ref.3		VAR_065361

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Long) [UniParc]. Last modified August 16, 2005. Version 3. Checksum: 97BBE2043C5FF834	FASTA	706	79,312
	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
	Isoform 2 (Short) [UniParc]. Checksum: 4E91DB6E8EFBEBAA	FASTA	625	70,516
	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 DITLEDFITI KRAYPGASGE GLSPV

References

	« Hide 'large scale' referencesShow '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. , 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.
+	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.
IPI	IPI00031372. IPI00419037.
RefSeq	NP_001241663.1. NM_001254734.1. NP_945345.2. NM_198994.2.
UniGene	Hs.452039.
3D structure databases
ProteinModelPortal	O95932.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000202625.
PTM databases
PhosphoSite	O95932.
Proteomic databases
PaxDb	O95932.
PRIDE	O95932.
Protocols and materials databases
DNASU	343641.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000202625; ENSP00000202625; ENSG00000166948. ENST00000381423; ENSP00000370831; ENSG00000166948.
GeneID	343641.
KEGG	hsa:343641.
UCSC	uc002wfy.1. human. uc010gal.1. human.
Organism-specific databases
CTD	343641.
GeneCards	GC20P002309.
H-InvDB	HIX0040537.
HGNC	HGNC:16255. TGM6.
MIM	613900. gene. 613908. phenotype.
neXtProt	NX_O95932.
Orphanet	276193. Spinocerebellar ataxia type 35.
PharmGKB	PA38098.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG80379.
HOGENOM	HOG000231695.
HOVERGEN	HBG004342.
InParanoid	O95932.
KO	K05624.
OMA	EDSMWNF.
OrthoDB	EOG4RBQJ3.
PhylomeDB	O95932.
Gene expression databases
Bgee	O95932.
CleanEx	HS_TGM6.
Genevestigator	O95932.
GermOnline	ENSG00000166948. Homo sapiens.
Family and domain databases
Gene3D	2.60.40.10. 3 hits.
InterPro	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]
PANTHER	PTHR11590. PTHR11590. 1 hit.
Pfam	PF00927. Transglut_C. 2 hits. PF01841. Transglut_core. 1 hit. PF00868. Transglut_N. 1 hit. [Graphical view]
PIRSF	PIRSF000459. TGM_EBP42. 1 hit.
SMART	SM00460. TGc. 1 hit. [Graphical view]
SUPFAM	SSF81296. Ig_E-set. 1 hit. SSF49309. Transglut_C. 2 hits.
PROSITE	PS00547. TRANSGLUTAMINASES. 1 hit. [Graphical view]
ProtoNet	Search...
Other
DrugBank	DB00130. L-Glutamine.
GenomeRNAi	343641.
NextBio	98594.
SOURCE	Search...

Entry information

Entry name

TGM3L_HUMAN

Accession

Primary (citable) accession number: O95932
Secondary accession number(s): Q5JXU4 , Q5JXU5, Q719M2, Q719M3, Q9Y4U8

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 10, 2002
Last sequence update:	August 16, 2005
Last modified:	May 1, 2013
This is version 115 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.