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Protein

Protein-glutamine gamma-glutamyltransferase K

Gene

TGM1

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. Responsible for cross-linking epidermal proteins during formation of the stratum corneum. Involved in cell proliferation (PubMed:26220141).1 Publication

Catalytic activityi

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

Cofactori

Ca2+Note: Binds 1 Ca2+ ion per subunit.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei377PROSITE-ProRule annotation1
Active sitei436PROSITE-ProRule annotation1
Active sitei459PROSITE-ProRule annotation1
Metal bindingi499CalciumBy similarity1
Metal bindingi501CalciumBy similarity1
Metal bindingi548CalciumBy similarity1
Metal bindingi553CalciumBy similarity1

GO - Molecular functioni

GO - Biological processi

  • cell envelope organization Source: UniProtKB
  • cellular protein modification process Source: UniProtKB
  • keratinization Source: UniProtKB-KW
  • keratinocyte differentiation Source: UniProtKB
  • peptide cross-linking Source: InterPro
  • positive regulation of cell cycle Source: UniProtKB
  • positive regulation of keratinocyte proliferation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Acyltransferase, Transferase

Keywords - Biological processi

Keratinization

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:HS01767-MONOMER.
ReactomeiR-HSA-6809371. Formation of the cornified envelope.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein-glutamine gamma-glutamyltransferase K (EC:2.3.2.13)
Alternative name(s):
Epidermal TGase
Transglutaminase K
Short name:
TG(K)
Short name:
TGK
Short name:
TGase K
Transglutaminase-1
Short name:
TGase-1
Gene namesi
Name:TGM1
Synonyms:KTG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:11777. TGM1.

Subcellular locationi

GO - Cellular componenti

  • cornified envelope Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • intrinsic component of membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Ichthyosis, congenital, autosomal recessive 1 (ARCI1)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.
See also OMIM:242300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01522042S → Y in ARCI1; skin phenotype consistent with lamellar ichthyosis. 2 PublicationsCorresponds to variant rs41295338dbSNPEnsembl.1
Natural variantiVAR_05863853C → S in ARCI1. 1
Natural variantiVAR_05863994G → D in ARCI1. Corresponds to variant rs121918729dbSNPEnsembl.1
Natural variantiVAR_020918102D → V in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant rs398122901dbSNPEnsembl.1
Natural variantiVAR_058640126R → C in ARCI1. Corresponds to variant rs397514524dbSNPEnsembl.1
Natural variantiVAR_058641126R → H in ARCI1. Corresponds to variant rs200491579dbSNPEnsembl.1
Natural variantiVAR_058642134Y → C in ARCI1. Corresponds to variant rs147916609dbSNPEnsembl.1
Natural variantiVAR_058643142R → C in ARCI1. Corresponds to variant rs121918716dbSNPEnsembl.1
Natural variantiVAR_007476142R → H in ARCI1; skin phenotype consistent with lamellar ichthyosis. 2 PublicationsCorresponds to variant rs121918718dbSNPEnsembl.1
Natural variantiVAR_058644142R → P in ARCI1. 1
Natural variantiVAR_007477143R → C in ARCI1; compound heterozygote with F-212; inhibits cell proliferation. 2 PublicationsCorresponds to variant rs531650682dbSNPEnsembl.1
Natural variantiVAR_007478143R → H in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant rs121918719dbSNPEnsembl.1
Natural variantiVAR_058645144G → E in ARCI1. 1
Natural variantiVAR_058646144G → R in ARCI1. Corresponds to variant rs778635368dbSNPEnsembl.1
Natural variantiVAR_058647160S → C in ARCI1. Corresponds to variant rs121918728dbSNPEnsembl.1
Natural variantiVAR_058648205L → Q in ARCI1. 1
Natural variantiVAR_058649209V → F in ARCI1. 1
Natural variantiVAR_075227212S → F in ARCI1; compound heterozygote with C-143; inhibits cell proliferation. 1 Publication1
Natural variantiVAR_007479218G → S in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant rs121918732dbSNPEnsembl.1
Natural variantiVAR_058650225R → H in ARCI1. Corresponds to variant rs549195122dbSNPEnsembl.1
Natural variantiVAR_058651225R → P in ARCI1. 1
Natural variantiVAR_058652243I → S in ARCI1. 1
Natural variantiVAR_058653249P → L in ARCI1. 1
Natural variantiVAR_058654264R → Q in ARCI1. Corresponds to variant rs781006633dbSNPEnsembl.1
Natural variantiVAR_058655264R → W in ARCI1. Corresponds to variant rs201868387dbSNPEnsembl.1
Natural variantiVAR_058656272S → P in ARCI1. Corresponds to variant rs764040146dbSNPEnsembl.1
Natural variantiVAR_058657276Y → N in ARCI1. Corresponds to variant rs397514523dbSNPEnsembl.1
Natural variantiVAR_058658278G → R in ARCI1. Corresponds to variant rs121918725dbSNPEnsembl.1
Natural variantiVAR_058659285E → K in ARCI1. Corresponds to variant rs749721551dbSNPEnsembl.1
Natural variantiVAR_058660286R → Q in ARCI1. Corresponds to variant rs121918727dbSNPEnsembl.1
Natural variantiVAR_020919289N → T in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant rs121918730dbSNPEnsembl.1
Natural variantiVAR_058661293F → V in ARCI1. 1
Natural variantiVAR_058662304I → F in ARCI1. Corresponds to variant rs753798494dbSNPEnsembl.1
Natural variantiVAR_058663307R → G in ARCI1. 1 PublicationCorresponds to variant rs121918731dbSNPEnsembl.1
Natural variantiVAR_020920307R → W in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant rs121918731dbSNPEnsembl.1
Natural variantiVAR_058664315R → C in ARCI1. Corresponds to variant rs397514525dbSNPEnsembl.1
Natural variantiVAR_058665315R → H in ARCI1. Corresponds to variant rs143473912dbSNPEnsembl.1
Natural variantiVAR_058666315R → L in ARCI1. Corresponds to variant rs143473912dbSNPEnsembl.1
Natural variantiVAR_015221323R → Q in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant rs121918717dbSNPEnsembl.1
Natural variantiVAR_058667323R → W in ARCI1. Corresponds to variant rs771820315dbSNPEnsembl.1
Natural variantiVAR_058668330N → H in ARCI1. 1
Natural variantiVAR_058669331S → P in ARCI1. 1
Natural variantiVAR_058670342W → R in ARCI1. 1
Natural variantiVAR_058671358S → R in ARCI1. Corresponds to variant rs779287673dbSNPEnsembl.1
Natural variantiVAR_058672359V → M in ARCI1. Corresponds to variant rs202037016dbSNPEnsembl.1
Natural variantiVAR_058673365Y → D in ARCI1. 1
Natural variantiVAR_058674366L → P in ARCI1. 1
Natural variantiVAR_007480379V → L in ARCI1. 1 PublicationCorresponds to variant rs121918720dbSNPEnsembl.1
Natural variantiVAR_058675382G → R in ARCI1. 1
Natural variantiVAR_058676383V → M in ARCI1. Corresponds to variant rs121918722dbSNPEnsembl.1
Natural variantiVAR_015222389R → H in ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant rs121918723dbSNPEnsembl.1
Natural variantiVAR_058677389R → P in ARCI1. Corresponds to variant rs121918723dbSNPEnsembl.1
Natural variantiVAR_058678392G → D in ARCI1. Corresponds to variant rs121918726dbSNPEnsembl.1
Natural variantiVAR_058679396R → H in ARCI1. Corresponds to variant rs121918721dbSNPEnsembl.1
Natural variantiVAR_007481396R → L in ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant rs121918721dbSNPEnsembl.1
Natural variantiVAR_058680396R → S in ARCI1. 1
Natural variantiVAR_058681401F → V in ARCI1. 1
Natural variantiVAR_058682430D → V in ARCI1. 1
Natural variantiVAR_058683473G → S in ARCI1. 1
Natural variantiVAR_058684490D → G in ARCI1. Corresponds to variant rs121918724dbSNPEnsembl.1
Natural variantiVAR_058685520E → G in ARCI1. Corresponds to variant rs142404759dbSNPEnsembl.1
Natural variantiVAR_058686544Y → C in ARCI1. 1
Natural variantiVAR_058687687R → C in ARCI1. Corresponds to variant rs147516124dbSNPEnsembl.1
Natural variantiVAR_058688687R → H in ARCI1. 1
Natural variantiVAR_058689764R → C in ARCI1. Corresponds to variant rs201853046dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Ichthyosis

Organism-specific databases

DisGeNETi7051.
MalaCardsiTGM1.
MIMi242300. phenotype.
OpenTargetsiENSG00000092295.
Orphaneti281127. Acral self-healing collodion baby.
100976. Bathing suit ichthyosis.
79394. Congenital non-bullous ichthyosiform erythroderma.
313. Lamellar ichthyosis.
281122. Self-healing collodion baby.
PharmGKBiPA36490.

Chemistry databases

ChEMBLiCHEMBL2810.
DrugBankiDB00130. L-Glutamine.

Polymorphism and mutation databases

BioMutaiTGM1.
DMDMi57015359.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002137011 – 817Protein-glutamine gamma-glutamyltransferase KAdd BLAST817

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei22PhosphothreonineBy similarity1
Modified residuei24Phosphoserine1 Publication1
Modified residuei68PhosphoserineBy similarity1
Modified residuei82Phosphoserine1 Publication1
Modified residuei85Phosphoserine1 Publication1
Modified residuei92Phosphoserine1 Publication1
Modified residuei95PhosphoserineBy similarity1

Post-translational modificationi

The membrane anchorage region possesses a cluster of five cysteines within which fatty acid(s) may become thioester-linked. It is subject to phorbol ester-stimulated phosphorylation and is hypersensitive to proteolysis, which releases the enzyme in a soluble form.1 Publication

Keywords - PTMi

Lipoprotein, Phosphoprotein

Proteomic databases

EPDiP22735.
MaxQBiP22735.
PaxDbiP22735.
PeptideAtlasiP22735.
PRIDEiP22735.

PTM databases

iPTMnetiP22735.
PhosphoSitePlusiP22735.
SwissPalmiP22735.

Expressioni

Gene expression databases

BgeeiENSG00000092295.
CleanExiHS_TGM1.
ExpressionAtlasiP22735. baseline and differential.
GenevisibleiP22735. HS.

Organism-specific databases

HPAiCAB015159.
HPA040171.
HPA058875.

Interactioni

Protein-protein interaction databases

BioGridi112909. 30 interactors.
IntActiP22735. 29 interactors.
STRINGi9606.ENSP00000206765.

Chemistry databases

BindingDBiP22735.

Structurei

Secondary structure

1817
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi693 – 699Combined sources7
Beta strandi703 – 705Combined sources3
Beta strandi707 – 714Combined sources8
Beta strandi717 – 719Combined sources3
Beta strandi723 – 730Combined sources8
Turni731 – 733Combined sources3
Beta strandi734 – 741Combined sources8
Beta strandi749 – 756Combined sources8
Beta strandi767 – 771Combined sources5
Helixi773 – 776Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2XZZX-ray2.30A693-787[»]
ProteinModelPortaliP22735.
SMRiP22735.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 100Membrane anchorage regionAdd BLAST100

Sequence similaritiesi

Phylogenomic databases

eggNOGiENOG410IFMV. Eukaryota.
ENOG410XQEZ. LUCA.
GeneTreeiENSGT00760000119108.
HOGENOMiHOG000231695.
HOVERGENiHBG004342.
InParanoidiP22735.
KOiK05619.
OMAiCGCCSCR.
OrthoDBiEOG091G030K.
PhylomeDBiP22735.
TreeFamiTF324278.

Family and domain databases

Gene3Di2.60.40.10. 3 hits.
3.90.260.10. 1 hit.
InterProiIPR023608. Gln_gamma-glutamylTfrase_euk.
IPR013783. Ig-like_fold.
IPR014756. Ig_E-set.
IPR002931. Transglutaminase-like.
IPR013808. Transglutaminase_AS.
IPR008958. Transglutaminase_C.
IPR001102. Transglutaminase_N.
[Graphical view]
PANTHERiPTHR11590. PTHR11590. 1 hit.
PfamiPF00927. Transglut_C. 2 hits.
PF01841. Transglut_core. 1 hit.
PF00868. Transglut_N. 1 hit.
[Graphical view]
PIRSFiPIRSF000459. TGM_EBP42. 1 hit.
SMARTiSM00460. TGc. 1 hit.
[Graphical view]
SUPFAMiSSF49309. SSF49309. 2 hits.
SSF81296. SSF81296. 1 hit.
PROSITEiPS00547. TRANSGLUTAMINASES. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: P22735-1) [UniParc]FASTAAdd to basket

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
MMDGPRSDVG RWGGNPLQPP TTPSPEPEPE PDGRSRRGGG RSFWARCCGC
60 70 80 90 100
CSCRNAADDD WGPEPSDSRG RGSSSGTRRP GSRGSDSRRP VSRGSGVNAA
110 120 130 140 150
GDGTIREGML VVNGVDLLSS RSDQNRREHH TDEYEYDELI VRRGQPFHML
160 170 180 190 200
LLLSRTYESS DRITLELLIG NNPEVGKGTH VIIPVGKGGS GGWKAQVVKA
210 220 230 240 250
SGQNLNLRVH TSPNAIIGKF QFTVRTQSDA GEFQLPFDPR NEIYILFNPW
260 270 280 290 300
CPEDIVYVDH EDWRQEYVLN ESGRIYYGTE AQIGERTWNY GQFDHGVLDA
310 320 330 340 350
CLYILDRRGM PYGGRGDPVN VSRVISAMVN SLDDNGVLIG NWSGDYSRGT
360 370 380 390 400
NPSAWVGSVE ILLSYLRTGY SVPYGQCWVF AGVTTTVLRC LGLATRTVTN
410 420 430 440 450
FNSAHDTDTS LTMDIYFDEN MKPLEHLNHD SVWNFHVWND CWMKRPDLPS
460 470 480 490 500
GFDGWQVVDA TPQETSSGIF CCGPCSVESI KNGLVYMKYD TPFIFAEVNS
510 520 530 540 550
DKVYWQRQDD GSFKIVYVEE KAIGTLIVTK AISSNMREDI TYLYKHPEGS
560 570 580 590 600
DAERKAVETA AAHGSKPNVY ANRGSAEDVA MQVEAQDAVM GQDLMVSVML
610 620 630 640 650
INHSSSRRTV KLHLYLSVTF YTGVSGTIFK ETKKEVELAP GASDRVTMPV
660 670 680 690 700
AYKEYRPHLV DQGAMLLNVS GHVKESGQVL AKQHTFRLRT PDLSLTLLGA
710 720 730 740 750
AVVGQECEVQ IVFKNPLPVT LTNVVFRLEG SGLQRPKILN VGDIGGNETV
760 770 780 790 800
TLRQSFVPVR PGPRQLIASL DSPQLSQVHG VIQVDVAPAP GDGGFFSDAG
810
GDSHLGETIP MASRGGA
Length:817
Mass (Da):89,787
Last modified:January 4, 2005 - v4
Checksum:i4732F28234F5D5F1
GO
Isoform 2 (identifier: P22735-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-442: Missing.

Note: No experimental confirmation available.
Show »
Length:375
Mass (Da):40,628
Checksum:i8155D17B2CF94BA7
GO

Sequence cautioni

The sequence AAA61166 differs from that shown. Reason: Frameshift at position 16.Curated
The sequence M86360 differs from that shown. Reason: Frameshift at positions 16, 421 and 651.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti119 – 120Missing in M86360 (PubMed:1348508).Curated2
Sequence conflicti301C → A in AAA61156 (PubMed:1346394).Curated1
Sequence conflicti508Q → H in M86360 (PubMed:1348508).Curated1
Sequence conflicti551D → E in M86360 (PubMed:1348508).Curated1
Sequence conflicti554R → A in AAA61166 (PubMed:1670769).Curated1
Sequence conflicti669V → I in AAA61166 (PubMed:1670769).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01522042S → Y in ARCI1; skin phenotype consistent with lamellar ichthyosis. 2 PublicationsCorresponds to variant rs41295338dbSNPEnsembl.1
Natural variantiVAR_05863853C → S in ARCI1. 1
Natural variantiVAR_05863994G → D in ARCI1. Corresponds to variant rs121918729dbSNPEnsembl.1
Natural variantiVAR_020918102D → V in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant rs398122901dbSNPEnsembl.1
Natural variantiVAR_058640126R → C in ARCI1. Corresponds to variant rs397514524dbSNPEnsembl.1
Natural variantiVAR_058641126R → H in ARCI1. Corresponds to variant rs200491579dbSNPEnsembl.1
Natural variantiVAR_029268132D → N.Corresponds to variant rs2229462dbSNPEnsembl.1
Natural variantiVAR_058642134Y → C in ARCI1. Corresponds to variant rs147916609dbSNPEnsembl.1
Natural variantiVAR_058643142R → C in ARCI1. Corresponds to variant rs121918716dbSNPEnsembl.1
Natural variantiVAR_007476142R → H in ARCI1; skin phenotype consistent with lamellar ichthyosis. 2 PublicationsCorresponds to variant rs121918718dbSNPEnsembl.1
Natural variantiVAR_058644142R → P in ARCI1. 1
Natural variantiVAR_007477143R → C in ARCI1; compound heterozygote with F-212; inhibits cell proliferation. 2 PublicationsCorresponds to variant rs531650682dbSNPEnsembl.1
Natural variantiVAR_007478143R → H in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant rs121918719dbSNPEnsembl.1
Natural variantiVAR_058645144G → E in ARCI1. 1
Natural variantiVAR_058646144G → R in ARCI1. Corresponds to variant rs778635368dbSNPEnsembl.1
Natural variantiVAR_058647160S → C in ARCI1. Corresponds to variant rs121918728dbSNPEnsembl.1
Natural variantiVAR_058648205L → Q in ARCI1. 1
Natural variantiVAR_058649209V → F in ARCI1. 1
Natural variantiVAR_075227212S → F in ARCI1; compound heterozygote with C-143; inhibits cell proliferation. 1 Publication1
Natural variantiVAR_007479218G → S in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant rs121918732dbSNPEnsembl.1
Natural variantiVAR_058650225R → H in ARCI1. Corresponds to variant rs549195122dbSNPEnsembl.1
Natural variantiVAR_058651225R → P in ARCI1. 1
Natural variantiVAR_058652243I → S in ARCI1. 1
Natural variantiVAR_058653249P → L in ARCI1. 1
Natural variantiVAR_058654264R → Q in ARCI1. Corresponds to variant rs781006633dbSNPEnsembl.1
Natural variantiVAR_058655264R → W in ARCI1. Corresponds to variant rs201868387dbSNPEnsembl.1
Natural variantiVAR_058656272S → P in ARCI1. Corresponds to variant rs764040146dbSNPEnsembl.1
Natural variantiVAR_058657276Y → N in ARCI1. Corresponds to variant rs397514523dbSNPEnsembl.1
Natural variantiVAR_058658278G → R in ARCI1. Corresponds to variant rs121918725dbSNPEnsembl.1
Natural variantiVAR_058659285E → K in ARCI1. Corresponds to variant rs749721551dbSNPEnsembl.1
Natural variantiVAR_058660286R → Q in ARCI1. Corresponds to variant rs121918727dbSNPEnsembl.1
Natural variantiVAR_020919289N → T in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant rs121918730dbSNPEnsembl.1
Natural variantiVAR_058661293F → V in ARCI1. 1
Natural variantiVAR_058662304I → F in ARCI1. Corresponds to variant rs753798494dbSNPEnsembl.1
Natural variantiVAR_058663307R → G in ARCI1. 1 PublicationCorresponds to variant rs121918731dbSNPEnsembl.1
Natural variantiVAR_020920307R → W in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant rs121918731dbSNPEnsembl.1
Natural variantiVAR_058664315R → C in ARCI1. Corresponds to variant rs397514525dbSNPEnsembl.1
Natural variantiVAR_058665315R → H in ARCI1. Corresponds to variant rs143473912dbSNPEnsembl.1
Natural variantiVAR_058666315R → L in ARCI1. Corresponds to variant rs143473912dbSNPEnsembl.1
Natural variantiVAR_015221323R → Q in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant rs121918717dbSNPEnsembl.1
Natural variantiVAR_058667323R → W in ARCI1. Corresponds to variant rs771820315dbSNPEnsembl.1
Natural variantiVAR_058668330N → H in ARCI1. 1
Natural variantiVAR_058669331S → P in ARCI1. 1
Natural variantiVAR_058670342W → R in ARCI1. 1
Natural variantiVAR_058671358S → R in ARCI1. Corresponds to variant rs779287673dbSNPEnsembl.1
Natural variantiVAR_058672359V → M in ARCI1. Corresponds to variant rs202037016dbSNPEnsembl.1
Natural variantiVAR_058673365Y → D in ARCI1. 1
Natural variantiVAR_058674366L → P in ARCI1. 1
Natural variantiVAR_055374372V → I.1 PublicationCorresponds to variant rs41293794dbSNPEnsembl.1
Natural variantiVAR_007480379V → L in ARCI1. 1 PublicationCorresponds to variant rs121918720dbSNPEnsembl.1
Natural variantiVAR_058675382G → R in ARCI1. 1
Natural variantiVAR_058676383V → M in ARCI1. Corresponds to variant rs121918722dbSNPEnsembl.1
Natural variantiVAR_015222389R → H in ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant rs121918723dbSNPEnsembl.1
Natural variantiVAR_058677389R → P in ARCI1. Corresponds to variant rs121918723dbSNPEnsembl.1
Natural variantiVAR_058678392G → D in ARCI1. Corresponds to variant rs121918726dbSNPEnsembl.1
Natural variantiVAR_058679396R → H in ARCI1. Corresponds to variant rs121918721dbSNPEnsembl.1
Natural variantiVAR_007481396R → L in ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant rs121918721dbSNPEnsembl.1
Natural variantiVAR_058680396R → S in ARCI1. 1
Natural variantiVAR_058681401F → V in ARCI1. 1
Natural variantiVAR_058682430D → V in ARCI1. 1
Natural variantiVAR_058683473G → S in ARCI1. 1
Natural variantiVAR_058684490D → G in ARCI1. Corresponds to variant rs121918724dbSNPEnsembl.1
Natural variantiVAR_052550518V → M.1 PublicationCorresponds to variant rs35312232dbSNPEnsembl.1
Natural variantiVAR_058685520E → G in ARCI1. Corresponds to variant rs142404759dbSNPEnsembl.1
Natural variantiVAR_058686544Y → C in ARCI1. 1
Natural variantiVAR_052551607R → C.1 PublicationCorresponds to variant rs2229464dbSNPEnsembl.1
Natural variantiVAR_058687687R → C in ARCI1. Corresponds to variant rs147516124dbSNPEnsembl.1
Natural variantiVAR_058688687R → H in ARCI1. 1
Natural variantiVAR_052552755S → L.1 PublicationCorresponds to variant rs35926651dbSNPEnsembl.1
Natural variantiVAR_058689764R → C in ARCI1. Corresponds to variant rs201853046dbSNPEnsembl.1
Natural variantiVAR_024660802D → V.1 PublicationCorresponds to variant rs2228337dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0568401 – 442Missing in isoform 2. 1 PublicationAdd BLAST442

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M55183 mRNA. Translation: AAA59474.1.
D90287 mRNA. Translation: BAA14329.1.
M62925 mRNA. Translation: AAA61166.1. Frameshift.
M83230
, M83227, M83228, M83229 Genomic DNA. Translation: AAA61156.1.
M86360 Genomic DNA. No translation available.
D10353 Genomic DNA. Translation: BAA34203.1.
M98447 Genomic DNA. Translation: AAA96667.1.
AK301652 mRNA. Translation: BAG63129.1.
AK315843 mRNA. Translation: BAF98734.1.
DQ640500 Genomic DNA. Translation: ABF70204.1.
AL096870 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW66047.1.
BC034699 mRNA. Translation: AAH34699.1.
X57974 mRNA. Translation: CAA41040.1.
CCDSiCCDS9622.1. [P22735-1]
PIRiA43401. TGHUM1.
RefSeqiNP_000350.1. NM_000359.2. [P22735-1]
UniGeneiHs.508950.

Genome annotation databases

EnsembliENST00000206765; ENSP00000206765; ENSG00000092295. [P22735-1]
ENST00000544573; ENSP00000439446; ENSG00000092295. [P22735-2]
GeneIDi7051.
KEGGihsa:7051.
UCSCiuc001wod.3. human. [P22735-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M55183 mRNA. Translation: AAA59474.1.
D90287 mRNA. Translation: BAA14329.1.
M62925 mRNA. Translation: AAA61166.1. Frameshift.
M83230
, M83227, M83228, M83229 Genomic DNA. Translation: AAA61156.1.
M86360 Genomic DNA. No translation available.
D10353 Genomic DNA. Translation: BAA34203.1.
M98447 Genomic DNA. Translation: AAA96667.1.
AK301652 mRNA. Translation: BAG63129.1.
AK315843 mRNA. Translation: BAF98734.1.
DQ640500 Genomic DNA. Translation: ABF70204.1.
AL096870 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW66047.1.
BC034699 mRNA. Translation: AAH34699.1.
X57974 mRNA. Translation: CAA41040.1.
CCDSiCCDS9622.1. [P22735-1]
PIRiA43401. TGHUM1.
RefSeqiNP_000350.1. NM_000359.2. [P22735-1]
UniGeneiHs.508950.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2XZZX-ray2.30A693-787[»]
ProteinModelPortaliP22735.
SMRiP22735.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112909. 30 interactors.
IntActiP22735. 29 interactors.
STRINGi9606.ENSP00000206765.

Chemistry databases

BindingDBiP22735.
ChEMBLiCHEMBL2810.
DrugBankiDB00130. L-Glutamine.

PTM databases

iPTMnetiP22735.
PhosphoSitePlusiP22735.
SwissPalmiP22735.

Polymorphism and mutation databases

BioMutaiTGM1.
DMDMi57015359.

Proteomic databases

EPDiP22735.
MaxQBiP22735.
PaxDbiP22735.
PeptideAtlasiP22735.
PRIDEiP22735.

Protocols and materials databases

DNASUi7051.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000206765; ENSP00000206765; ENSG00000092295. [P22735-1]
ENST00000544573; ENSP00000439446; ENSG00000092295. [P22735-2]
GeneIDi7051.
KEGGihsa:7051.
UCSCiuc001wod.3. human. [P22735-1]

Organism-specific databases

CTDi7051.
DisGeNETi7051.
GeneCardsiTGM1.
GeneReviewsiTGM1.
HGNCiHGNC:11777. TGM1.
HPAiCAB015159.
HPA040171.
HPA058875.
MalaCardsiTGM1.
MIMi190195. gene.
242300. phenotype.
neXtProtiNX_P22735.
OpenTargetsiENSG00000092295.
Orphaneti281127. Acral self-healing collodion baby.
100976. Bathing suit ichthyosis.
79394. Congenital non-bullous ichthyosiform erythroderma.
313. Lamellar ichthyosis.
281122. Self-healing collodion baby.
PharmGKBiPA36490.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFMV. Eukaryota.
ENOG410XQEZ. LUCA.
GeneTreeiENSGT00760000119108.
HOGENOMiHOG000231695.
HOVERGENiHBG004342.
InParanoidiP22735.
KOiK05619.
OMAiCGCCSCR.
OrthoDBiEOG091G030K.
PhylomeDBiP22735.
TreeFamiTF324278.

Enzyme and pathway databases

BioCyciZFISH:HS01767-MONOMER.
ReactomeiR-HSA-6809371. Formation of the cornified envelope.

Miscellaneous databases

GeneWikiiKeratinocyte_transglutaminase.
GenomeRNAii7051.
PROiP22735.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000092295.
CleanExiHS_TGM1.
ExpressionAtlasiP22735. baseline and differential.
GenevisibleiP22735. HS.

Family and domain databases

Gene3Di2.60.40.10. 3 hits.
3.90.260.10. 1 hit.
InterProiIPR023608. Gln_gamma-glutamylTfrase_euk.
IPR013783. Ig-like_fold.
IPR014756. Ig_E-set.
IPR002931. Transglutaminase-like.
IPR013808. Transglutaminase_AS.
IPR008958. Transglutaminase_C.
IPR001102. Transglutaminase_N.
[Graphical view]
PANTHERiPTHR11590. PTHR11590. 1 hit.
PfamiPF00927. Transglut_C. 2 hits.
PF01841. Transglut_core. 1 hit.
PF00868. Transglut_N. 1 hit.
[Graphical view]
PIRSFiPIRSF000459. TGM_EBP42. 1 hit.
SMARTiSM00460. TGc. 1 hit.
[Graphical view]
SUPFAMiSSF49309. SSF49309. 2 hits.
SSF81296. SSF81296. 1 hit.
PROSITEiPS00547. TRANSGLUTAMINASES. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTGM1_HUMAN
AccessioniPrimary (citable) accession number: P22735
Secondary accession number(s): B4DWR7, Q197M4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1991
Last sequence update: January 4, 2005
Last modified: November 30, 2016
This is version 178 of the entry and version 4 of the sequence. [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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.