TGM6
entrez
343641
canonical
uniprot
O95932
canonical
ensembl
ENSG00000166948
resolver
ensp
ENSP00000202625
resolver
ensp
ENSP00000370831
resolver
genesymbol
TGM6
resolver
genesymbol_syn
TGM3L
resolver
hgnc
HGNC:16255
resolver
uniprot
Q5JXU4
resolver
uniprot
Q5JXU5
resolver
uniprot
Q719M2
resolver
uniprot
Q719M3
resolver
uniprot
Q9Y4U8
resolver
uniprot_entry
TGM3L_HUMAN
resolver
uniprot_sec
Q5JXU4
resolver
uniprot_sec
Q5JXU5
resolver
uniprot_sec
Q719M2
resolver
uniprot_sec
Q719M3
resolver
uniprot_sec
Q9Y4U8
resolver
amino_acid_sequence
MAGIRVTKVDWQRSRNGAAHHTQEYPCPELVVRRGQSFSLTLELSRALDCEEILIFTMETGPRASEALHTKAVFQTSELERGEGWTAAREAQMEKTLTVSLASPPSAVIGRYLLSIRLSSHRKHSNRRLGEFVLLFNPWCAEDDVFLASEEERQEYVLSDSGIIFRGVEKHIRAQGWNYGQFEEDILNICLSILDRSPGHQNNPATDVSCRHNPIYVTRVISAMVNSNNDRGVVQGQWQGKYGGGTSPLHWRGSVAILQKWLKGRYKPVKYGQCWVFAGVLCTVLRCLGIATRVVSNFNSAHDTDQNLSVDKYVDSFGRTLEDLTEDSMWNFHVWNESWFARQDLGPSYNGWQVLDATPQEESEGVFRCGPASVTAIREGDVHLAHDGPFVFAEVNADYITWLWHEDESRERVYSNTKKIGRCISTKAVGSDSRVDITDLYKYPEGSRKERQVYSKAVNRLFGVEASGRRIWIRRAGGRCLWRDDLLEPATKPSIAGKFKVLEPPMLGHDLRLALCLANLTSRAQRVRVNLSGATILYTRKPVAEILHESHAVRLGPQEEKRIPITISYSKYKEDLTEDKKILLAAMCLVTKGEKLLVEKDITLEDFITIKVLGPAMVGVAVTVEVTVVNPLIERVKDCALMVEGSGLLQEQLSIDVPTLEPQERASVQFDITPSKSGPRQLQVDLVSPHFPDIKGFVIVHVATAK
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:21106500, ECO:0000269|PubMed:22554020, ECO:0000269|PubMed:23206699, ECO:0000269|PubMed:25253745, ECO:0000269|PubMed:29053796}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.2.13
uniprot
proteins
function
FUNCTION: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. {ECO:0000250}.
uniprot
proteins
mass_dalton
79312
uniprot
proteins
protein_family
Transglutaminase family
uniprot
proteins
protein_family
Transglutaminase superfamily
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
21106500
uniprot
proteins
pubmed
22554020
uniprot
proteins
pubmed
23206699
uniprot
proteins
pubmed
25253745
uniprot
proteins
pubmed
29053796
uniprot
proteins
sequence_length
706
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23206699, ECO:0000269|PubMed:25253745, ECO:0000269|PubMed:29053796}.
uniprot
proteins