Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7051
Gene name Gene Name - the full gene name approved by the HGNC.	Transglutaminase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TGM1
Synonyms (NCBI Gene) Gene synonyms aliases	ARCI1, ICR2, KTG, LI, LI1, TGASE, TGK
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q12
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins

Show/Hide all(94)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41295338	G>C,T	Likely-benign, pathogenic, benign-likely-benign	Coding sequence variant, missense variant
rs112419023	C>A,G,T	Pathogenic	Splice acceptor variant
rs121918716	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121918717	C>T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121918718	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs121918719	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121918720	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs121918721	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121918722	C>T	Pathogenic	Missense variant, coding sequence variant
rs121918723	C>G,T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121918725	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121918726	C>T	Pathogenic	Missense variant, coding sequence variant
rs121918727	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs121918728	G>C	Pathogenic	Missense variant, coding sequence variant
rs121918730	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs121918731	G>A,C,T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs121918732	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs139208806	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs140000324	G>A	Pathogenic	Stop gained, coding sequence variant
rs142634031	T>C	Pathogenic	Splice acceptor variant
rs143473912	C>A,T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs147916609	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs151054393	A>G	Pathogenic, likely-pathogenic	Splice donor variant
rs199678720	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs200491579	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs201432046	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs201853046	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs201868387	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs367699137	C>T	Pathogenic	Coding sequence variant, stop gained
rs397514522	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs397514523	A>T	Pathogenic	Coding sequence variant, missense variant
rs397514525	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs398122900	TGGAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs398122901	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs398122902	ACAGGCC>-	Pathogenic	Splice donor variant, coding sequence variant
rs398122903	->T	Pathogenic	Frameshift variant, coding sequence variant
rs398122904	G>A	Pathogenic	Coding sequence variant, stop gained
rs398122905	TGTGT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs531650682	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs543521135	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs587779765	T>G	Pathogenic	Coding sequence variant, missense variant
rs752349623	T>C	Likely-pathogenic	Splice acceptor variant
rs753798494	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs754922174	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs756732717	T>C	Pathogenic	Missense variant, coding sequence variant
rs760429286	G>A	Pathogenic	Stop gained, coding sequence variant
rs771820315	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs773303931	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs773777400	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs776068111	C>G,T	Likely-pathogenic	Splice acceptor variant
rs779287673	G>A,C	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs780990272	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs786205485	GA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863223405	A>G	Pathogenic	Coding sequence variant, missense variant
rs867950920	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs878853259	A>T	Pathogenic	Coding sequence variant, missense variant
rs886039654	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs886041250	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs886041950	C>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs886042116	T>C	Likely-pathogenic	Splice acceptor variant
rs904122716	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs972054392	G>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1057517836	->TACTCATACT	Pathogenic	Coding sequence variant, stop gained
rs1057517837	A>G	Pathogenic	Missense variant, coding sequence variant
rs1064794422	GCAGCAGAAG>ACAGAGC	Likely-pathogenic	Inframe indel, coding sequence variant
rs1085308001	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1156392436	C>A	Likely-pathogenic	Splice acceptor variant
rs1199770893	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1202280089	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1211601030	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs1220151696	C>A,T	Likely-pathogenic	Splice donor variant
rs1230140208	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1247223599	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1296165092	G>A	Pathogenic	Stop gained, coding sequence variant
rs1322979131	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1381998109	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs1479881544	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555305725	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555305783	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555305836	G>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1555306089	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555306102	A>G	Likely-pathogenic	Splice donor variant
rs1555306113	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555306117	CT>-	Likely-pathogenic	Splice acceptor variant
rs1555306172	->AG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555306238	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1566377068	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566378425	C>T	Pathogenic	Splice donor variant
rs1566380103	G>A	Pathogenic	Stop gained, coding sequence variant
rs1566381457	C>T	Pathogenic	Stop gained, coding sequence variant
rs1594567244	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1594568541	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1594571148	G>C	Pathogenic	Missense variant, coding sequence variant
rs1594571770	CCCGTGG>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(19)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022617	hsa-miR-124-3p	Microarray	18668037
MIRT029438	hsa-miR-26b-5p	Microarray	19088304
MIRT1421791	hsa-miR-1224-3p	CLIP-seq
MIRT1421792	hsa-miR-1233	CLIP-seq
MIRT1421793	hsa-miR-3622a-3p	CLIP-seq
MIRT1421794	hsa-miR-3622b-3p	CLIP-seq
MIRT1421795	hsa-miR-3670	CLIP-seq
MIRT1421796	hsa-miR-3690	CLIP-seq
MIRT1421797	hsa-miR-378	CLIP-seq
MIRT1421798	hsa-miR-378b	CLIP-seq
MIRT1421799	hsa-miR-378c	CLIP-seq
MIRT1421800	hsa-miR-378d	CLIP-seq
MIRT1421801	hsa-miR-378e	CLIP-seq
MIRT1421802	hsa-miR-378f	CLIP-seq
MIRT1421803	hsa-miR-378h	CLIP-seq
MIRT1421804	hsa-miR-378i	CLIP-seq
MIRT1421805	hsa-miR-422a	CLIP-seq
MIRT1421806	hsa-miR-4286	CLIP-seq
MIRT1421807	hsa-miR-4308	CLIP-seq

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	TAS	8824274
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IBA
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IDA	7961731, 9722562, 21282207
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	7592852, 9722562, 10066784, 10510474, 32296183, 32814053
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0010838	Process	Positive regulation of keratinocyte proliferation	IMP	26220141
GO:0016020	Component	Membrane	IDA	8824274
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0018149	Process	Peptide cross-linking	IDA	9722562
GO:0030216	Process	Keratinocyte differentiation	IBA
GO:0030216	Process	Keratinocyte differentiation	IDA	8824274
GO:0031424	Process	Keratinization	IEA
GO:0036211	Process	Protein modification process	NAS	1979171
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0043163	Process	Cell envelope organization	TAS	14645372
GO:0045787	Process	Positive regulation of cell cycle	IMP	26220141
GO:0046872	Function	Metal ion binding	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708

MIM	HGNC	e!Ensembl
190195	11777	ENSG00000092295

Protein

UniProt ID

P22735

Protein name

Protein-glutamine gamma-glutamyltransferase K (EC 2.3.2.13) (Epidermal TGase) (Transglutaminase K) (TG(K)) (TGK) (TGase K) (Transglutaminase-1) (TGase-1)

Protein function

Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Responsible for cross-linking epidermal proteins during formation of the stratum corneum. Involved in cell proliferation (PubMed:26220141). {ECO:0000269|PubMe

PDB

2XZZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00868	Transglut_N	109 → 227	Transglutaminase family	Domain
PF01841	Transglut_core	341 → 460	Transglutaminase-like superfamily	Family
PF00927	Transglut_C	579 → 683	Transglutaminase family, C-terminal ig like domain	Domain
PF00927	Transglut_C	691 → 788	Transglutaminase family, C-terminal ig like domain	Domain

Sequence

MMDGPRSDVGRWGGNPLQPPTTPSPEPEPEPDGRSRRGGGRSFWARCCGCCSCRNAADDD
WGPEPSDSRGRGSSSGTRRPGSRGSDSRRPVSRGSGVNAAGDGTIREGMLVVNGVDLLSS
RSDQNRREHHTDEYEYDELIVRRGQPFHMLLLLSRTYESSDRITLELLIGNNPEVGKGTH
VIIPVGKGGSGGWKAQVVKASGQNLNLRVHTSPNAIIGKFQFTVRTQSDAGEFQLPFDPR
NEIYILFNPWCPEDIVYVDHEDWRQEYVLNESGRIYYGTEAQIGERTWNYGQFDHGVLDA
CLYILDRRGMPYGGRGDPVNVSRVISAMVNSLDDNGVLIGNWSGDYSRGTNPSAWVGSVE
ILLSYLRTGYSVPYGQCWVFAGVTTTVLRCLGLATRTVTNFNSAHDTDTSLTMDIYFDEN
MKPLEHLNHDSVWNFHVWNDCWMKRPDLPSGFDGWQVVDATPQETSSGIFCCGPCSVESI
KNGLVYMKYDTPFIFAEVNSDKVYWQRQDDGSFKIVYVEEKAIGTLIVTKAISSNMREDI
TYLYKHPEGSDAERKAVETAAAHGSKPNVYANRGSAEDVAMQVEAQDAVMGQDLMVSVML
INHSSSRRTVKLHLYLSVTFYTGVSGTIFKETKKEVELAPGASDRVTMPVAYKEYRPHLV
DQGAMLLNVSGHVKESGQVLAKQHTFRLRTPDLSLTLLGAAVVGQECEVQIVFKNPLPVT
LTNVVFRLEGSGLQRPKILNVGDIGGNETVTLRQSFVPVRPGPRQLIASLDSPQLSQVHG
VIQVDVAPAPGDGGFFSDAGGDSHLGETIPMASRGGA

Sequence length

817

Interactions

View interactions

	Reactome
			Formation of the cornified envelope

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
congenital ichthyosis	Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis	rs398122902, rs1566381457, rs142634031, rs121918725, rs1555306113, rs1156392436, rs1566380103, rs201868387, rs397514522, rs398122903, rs121918718, rs112419023, rs1555306238, rs779287673, rs773303931 View all (73 more)	N/A
Lamellar ichthyosis	lamellar ichthyosis	rs121918717, rs771820315, rs142634031, rs121918725, rs121918718, rs886041250, rs779287673, rs760429286, rs587779765, rs121918720, rs200491579, rs543521135, rs397514525, rs121918722, rs1296165092 View all (9 more)	N/A
ichthyosis	Ichthyosis	rs863223405	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Uterine Fibroids	Uterine fibroids	N/A	N/A	GWAS

Show/Hide Text Mining Associations (50)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
AA amyloidosis	Associate	10722712
Alopecia	Associate	18948357, 34851365
Alzheimer Disease	Associate	10521460, 11013236
Autoimmune Diseases	Associate	34911754
Blood Coagulation Disorders Inherited	Associate	39501396
Brachydactyly	Associate	34983512
Breast Neoplasms	Associate	19403524
Cataract and congenital ichthyosis	Associate	12636018, 28403434, 30372788, 33807935, 36676727
Cholesteatoma	Associate	10642946
Corneal Injuries	Associate	37542530
Dermatitis Atopic	Associate	23189155
Dyskinesia Drug Induced	Associate	37542530
Ectropion	Associate	18948357
Esophageal Squamous Cell Carcinoma	Associate	31277149, 32546690
Eye Abnormalities	Associate	37542530
Eye Neoplasms	Associate	18948357
Gaucher Disease Perinatal Lethal	Associate	12542526
Genetic Diseases Inborn	Associate	11013236
Glomerulonephritis Membranous	Associate	18948357
Hearing Loss	Associate	34851365
Huntington Disease	Associate	18422943
Hyperkeratosis Epidermolytic	Associate	15665393
Hypohidrosis	Associate	18948357
Ichthyosiform Erythroderma Congenital	Associate	9424079
Ichthyosis	Associate	27025581, 28403434, 31073126, 33807935, 34851365, 8941665
Ichthyosis Bullosa of Siemens	Associate	12636018
Ichthyosis Lamellar	Associate	10644724, 10712205, 11348475, 11511296, 15665393, 19197536, 20167857, 23096117, 23192619, 23689228, 30600594, 31073126, 36676727, 37542530, 7977373 View all (5 more)
Ichthyosis X Linked	Associate	17468528
Immunologic Deficiency Syndromes	Associate	20167857
Inflammation	Associate	36361742
Keratoconus	Associate	36240204
Keratoderma Palmoplantar	Associate	34983512
Lamellar ichthyosis type 3	Associate	10712223, 11398099, 15665393, 18948357, 22386491, 22511925, 22622417, 25180191, 26578203, 30372788, 30600594, 30916809, 30978464, 34983512, 36980989, 9424079 View all (1 more)
Li Fraumeni Syndrome	Associate	11511296
Lichen Planus Oral	Associate	30213231
Mucocutaneous Lymph Node Syndrome	Associate	11511296
Muscular Diseases	Associate	10722712
Myositis Inclusion Body	Stimulate	10722712
Nasal Polyps	Associate	36361742
Neoplasm Metastasis	Associate	35003328
Neoplasms	Associate	19403524
Netherton Syndrome	Associate	15304086
Pachyonychia Congenita	Associate	36116508
Pemphigus	Associate	34911754
Renal cell carcinoma 1	Associate	20167857
Self Healing Collodion Baby	Associate	19890349
Skin Diseases	Associate	12542526
Stevens Johnson Syndrome	Associate	10027391
Stomach Neoplasms	Associate	27660242
Tauopathies	Associate	22009441

TGM1 (transglutaminase 1)