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P22735

- TGM1_HUMAN

UniProt

P22735 - TGM1_HUMAN

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Protein
Protein-glutamine gamma-glutamyltransferase K
Gene
TGM1, KTG
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

Catalytic activityi

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

Cofactori

Binds 1 calcium ion per subunit.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei377 – 3771 By similarity
Active sitei436 – 4361 By similarity
Active sitei459 – 4591 By similarity
Metal bindingi499 – 4991Calcium By similarity
Metal bindingi501 – 5011Calcium By similarity
Metal bindingi548 – 5481Calcium By similarity
Metal bindingi553 – 5531Calcium By similarity

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW
  2. protein binding Source: UniProtKB
  3. protein-glutamine gamma-glutamyltransferase activity Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. cell envelope organization Source: UniProtKB
  2. cellular protein modification process Source: UniProtKB
  3. keratinization Source: UniProtKB-KW
  4. keratinocyte differentiation Source: UniProtKB
  5. organ morphogenesis Source: Ensembl
  6. peptide cross-linking Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Acyltransferase, Transferase

Keywords - Biological processi

Keratinization

Keywords - Ligandi

Calcium, Metal-binding

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
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:11777. TGM1.

Subcellular locationi

GO - Cellular componenti

  1. cell-cell adherens junction Source: Ensembl
  2. cornified envelope Source: UniProtKB
  3. extracellular vesicular exosome Source: UniProt
  4. intrinsic component of membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.6 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti42 – 421S → Y in ARCI1; skin phenotype consistent with lamellar ichthyosis. 2 Publications
Corresponds to variant rs41295338 [ dbSNP | Ensembl ].
VAR_015220
Natural varianti53 – 531C → S in ARCI1.
VAR_058638
Natural varianti94 – 941G → D in ARCI1.
Corresponds to variant rs121918729 [ dbSNP | Ensembl ].
VAR_058639
Natural varianti102 – 1021D → V in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
VAR_020918
Natural varianti126 – 1261R → C in ARCI1.
VAR_058640
Natural varianti126 – 1261R → H in ARCI1.
VAR_058641
Natural varianti134 – 1341Y → C in ARCI1.
VAR_058642
Natural varianti142 – 1421R → C in ARCI1.
VAR_058643
Natural varianti142 – 1421R → H in ARCI1; skin phenotype consistent with lamellar ichthyosis. 2 Publications
VAR_007476
Natural varianti142 – 1421R → P in ARCI1.
VAR_058644
Natural varianti143 – 1431R → C in ARCI1. 1 Publication
VAR_007477
Natural varianti143 – 1431R → H in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
VAR_007478
Natural varianti144 – 1441G → E in ARCI1.
VAR_058645
Natural varianti144 – 1441G → R in ARCI1.
VAR_058646
Natural varianti160 – 1601S → C in ARCI1.
VAR_058647
Natural varianti205 – 2051L → Q in ARCI1.
VAR_058648
Natural varianti209 – 2091V → F in ARCI1.
VAR_058649
Natural varianti218 – 2181G → S in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
VAR_007479
Natural varianti225 – 2251R → H in ARCI1.
VAR_058650
Natural varianti225 – 2251R → P in ARCI1.
VAR_058651
Natural varianti243 – 2431I → S in ARCI1.
VAR_058652
Natural varianti249 – 2491P → L in ARCI1.
VAR_058653
Natural varianti264 – 2641R → Q in ARCI1.
VAR_058654
Natural varianti264 – 2641R → W in ARCI1.
VAR_058655
Natural varianti272 – 2721S → P in ARCI1.
VAR_058656
Natural varianti276 – 2761Y → N in ARCI1.
VAR_058657
Natural varianti278 – 2781G → R in ARCI1.
VAR_058658
Natural varianti285 – 2851E → K in ARCI1.
VAR_058659
Natural varianti286 – 2861R → Q in ARCI1.
VAR_058660
Natural varianti289 – 2891N → T in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
VAR_020919
Natural varianti293 – 2931F → V in ARCI1.
VAR_058661
Natural varianti304 – 3041I → F in ARCI1.
VAR_058662
Natural varianti307 – 3071R → G in ARCI1. 1 Publication
Corresponds to variant rs121918731 [ dbSNP | Ensembl ].
VAR_058663
Natural varianti307 – 3071R → W in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
VAR_020920
Natural varianti315 – 3151R → C in ARCI1.
VAR_058664
Natural varianti315 – 3151R → H in ARCI1.
VAR_058665
Natural varianti315 – 3151R → L in ARCI1.
VAR_058666
Natural varianti323 – 3231R → Q in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
VAR_015221
Natural varianti323 – 3231R → W in ARCI1.
VAR_058667
Natural varianti330 – 3301N → H in ARCI1.
VAR_058668
Natural varianti331 – 3311S → P in ARCI1.
VAR_058669
Natural varianti342 – 3421W → R in ARCI1.
VAR_058670
Natural varianti358 – 3581S → R in ARCI1.
VAR_058671
Natural varianti359 – 3591V → M in ARCI1.
VAR_058672
Natural varianti365 – 3651Y → D in ARCI1.
VAR_058673
Natural varianti366 – 3661L → P in ARCI1.
VAR_058674
Natural varianti379 – 3791V → L in ARCI1. 1 Publication
VAR_007480
Natural varianti382 – 3821G → R in ARCI1.
VAR_058675
Natural varianti383 – 3831V → M in ARCI1.
VAR_058676
Natural varianti389 – 3891R → H in ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
VAR_015222
Natural varianti389 – 3891R → P in ARCI1.
VAR_058677
Natural varianti392 – 3921G → D in ARCI1.
VAR_058678
Natural varianti396 – 3961R → H in ARCI1.
VAR_058679
Natural varianti396 – 3961R → L in ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
Corresponds to variant rs121918721 [ dbSNP | Ensembl ].
VAR_007481
Natural varianti396 – 3961R → S in ARCI1.
VAR_058680
Natural varianti401 – 4011F → V in ARCI1.
VAR_058681
Natural varianti430 – 4301D → V in ARCI1.
VAR_058682
Natural varianti473 – 4731G → S in ARCI1.
VAR_058683
Natural varianti490 – 4901D → G in ARCI1.
VAR_058684
Natural varianti520 – 5201E → G in ARCI1.
Corresponds to variant rs142404759 [ dbSNP | Ensembl ].
VAR_058685
Natural varianti544 – 5441Y → C in ARCI1.
VAR_058686
Natural varianti687 – 6871R → C in ARCI1.
VAR_058687
Natural varianti687 – 6871R → H in ARCI1.
VAR_058688
Natural varianti764 – 7641R → C in ARCI1.
VAR_058689

Keywords - Diseasei

Disease mutation, Ichthyosis

Organism-specific databases

MIMi242300. phenotype.
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 817817Protein-glutamine gamma-glutamyltransferase K
PRO_0000213701Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei24 – 241Phosphoserine1 Publication
Modified residuei82 – 821Phosphoserine1 Publication
Modified residuei85 – 851Phosphoserine1 Publication
Modified residuei92 – 921Phosphoserine1 Publication
Modified residuei95 – 951Phosphoserine By similarity

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.

Keywords - PTMi

Lipoprotein, Phosphoprotein

Proteomic databases

MaxQBiP22735.
PaxDbiP22735.
PeptideAtlasiP22735.
PRIDEiP22735.

PTM databases

PhosphoSiteiP22735.

Expressioni

Gene expression databases

ArrayExpressiP22735.
BgeeiP22735.
CleanExiHS_TGM1.
GenevestigatoriP22735.

Organism-specific databases

HPAiCAB015159.
HPA040171.

Interactioni

Protein-protein interaction databases

BioGridi112909. 4 interactions.
IntActiP22735. 5 interactions.
STRINGi9606.ENSP00000206765.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi693 – 6997
Beta strandi703 – 7053
Beta strandi707 – 7148
Beta strandi717 – 7193
Beta strandi723 – 7308
Turni731 – 7333
Beta strandi734 – 7418
Beta strandi749 – 7568
Beta strandi767 – 7715
Helixi773 – 7764

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2XZZX-ray2.30A693-787[»]
ProteinModelPortaliP22735.
SMRiP22735. Positions 110-787.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 100100Membrane anchorage region
Add
BLAST

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG80379.
HOGENOMiHOG000231695.
HOVERGENiHBG004342.
InParanoidiP22735.
KOiK05619.
OMAiGRWGGNP.
OrthoDBiEOG7WT40M.
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.
IPR008958. Transglutaminase_C.
IPR013808. Transglutaminase_CS.
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]

Sequencei

Sequence statusi: Complete.

P22735-1 [UniParc]FASTAAdd to Basket

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MMDGPRSDVG RWGGNPLQPP TTPSPEPEPE PDGRSRRGGG RSFWARCCGC    50
CSCRNAADDD WGPEPSDSRG RGSSSGTRRP GSRGSDSRRP VSRGSGVNAA 100
GDGTIREGML VVNGVDLLSS RSDQNRREHH TDEYEYDELI VRRGQPFHML 150
LLLSRTYESS DRITLELLIG NNPEVGKGTH VIIPVGKGGS GGWKAQVVKA 200
SGQNLNLRVH TSPNAIIGKF QFTVRTQSDA GEFQLPFDPR NEIYILFNPW 250
CPEDIVYVDH EDWRQEYVLN ESGRIYYGTE AQIGERTWNY GQFDHGVLDA 300
CLYILDRRGM PYGGRGDPVN VSRVISAMVN SLDDNGVLIG NWSGDYSRGT 350
NPSAWVGSVE ILLSYLRTGY SVPYGQCWVF AGVTTTVLRC LGLATRTVTN 400
FNSAHDTDTS LTMDIYFDEN MKPLEHLNHD SVWNFHVWND CWMKRPDLPS 450
GFDGWQVVDA TPQETSSGIF CCGPCSVESI KNGLVYMKYD TPFIFAEVNS 500
DKVYWQRQDD GSFKIVYVEE KAIGTLIVTK AISSNMREDI TYLYKHPEGS 550
DAERKAVETA AAHGSKPNVY ANRGSAEDVA MQVEAQDAVM GQDLMVSVML 600
INHSSSRRTV KLHLYLSVTF YTGVSGTIFK ETKKEVELAP GASDRVTMPV 650
AYKEYRPHLV DQGAMLLNVS GHVKESGQVL AKQHTFRLRT PDLSLTLLGA 700
AVVGQECEVQ IVFKNPLPVT LTNVVFRLEG SGLQRPKILN VGDIGGNETV 750
TLRQSFVPVR PGPRQLIASL DSPQLSQVHG VIQVDVAPAP GDGGFFSDAG 800
GDSHLGETIP MASRGGA 817
Length:817
Mass (Da):89,787
Last modified:January 4, 2005 - v4
Checksum:i4732F28234F5D5F1
GO

Sequence cautioni

The sequence AAA61166.1 differs from that shown. Reason: Frameshift at position 16.
The sequence M86360 differs from that shown. Reason: Frameshift at positions 16, 421 and 651.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti42 – 421S → Y in ARCI1; skin phenotype consistent with lamellar ichthyosis. 2 Publications
Corresponds to variant rs41295338 [ dbSNP | Ensembl ].
VAR_015220
Natural varianti53 – 531C → S in ARCI1.
VAR_058638
Natural varianti94 – 941G → D in ARCI1.
Corresponds to variant rs121918729 [ dbSNP | Ensembl ].
VAR_058639
Natural varianti102 – 1021D → V in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
VAR_020918
Natural varianti126 – 1261R → C in ARCI1.
VAR_058640
Natural varianti126 – 1261R → H in ARCI1.
VAR_058641
Natural varianti132 – 1321D → N.
Corresponds to variant rs2229462 [ dbSNP | Ensembl ].
VAR_029268
Natural varianti134 – 1341Y → C in ARCI1.
VAR_058642
Natural varianti142 – 1421R → C in ARCI1.
VAR_058643
Natural varianti142 – 1421R → H in ARCI1; skin phenotype consistent with lamellar ichthyosis. 2 Publications
VAR_007476
Natural varianti142 – 1421R → P in ARCI1.
VAR_058644
Natural varianti143 – 1431R → C in ARCI1. 1 Publication
VAR_007477
Natural varianti143 – 1431R → H in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
VAR_007478
Natural varianti144 – 1441G → E in ARCI1.
VAR_058645
Natural varianti144 – 1441G → R in ARCI1.
VAR_058646
Natural varianti160 – 1601S → C in ARCI1.
VAR_058647
Natural varianti205 – 2051L → Q in ARCI1.
VAR_058648
Natural varianti209 – 2091V → F in ARCI1.
VAR_058649
Natural varianti218 – 2181G → S in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
VAR_007479
Natural varianti225 – 2251R → H in ARCI1.
VAR_058650
Natural varianti225 – 2251R → P in ARCI1.
VAR_058651
Natural varianti243 – 2431I → S in ARCI1.
VAR_058652
Natural varianti249 – 2491P → L in ARCI1.
VAR_058653
Natural varianti264 – 2641R → Q in ARCI1.
VAR_058654
Natural varianti264 – 2641R → W in ARCI1.
VAR_058655
Natural varianti272 – 2721S → P in ARCI1.
VAR_058656
Natural varianti276 – 2761Y → N in ARCI1.
VAR_058657
Natural varianti278 – 2781G → R in ARCI1.
VAR_058658
Natural varianti285 – 2851E → K in ARCI1.
VAR_058659
Natural varianti286 – 2861R → Q in ARCI1.
VAR_058660
Natural varianti289 – 2891N → T in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
VAR_020919
Natural varianti293 – 2931F → V in ARCI1.
VAR_058661
Natural varianti304 – 3041I → F in ARCI1.
VAR_058662
Natural varianti307 – 3071R → G in ARCI1. 1 Publication
Corresponds to variant rs121918731 [ dbSNP | Ensembl ].
VAR_058663
Natural varianti307 – 3071R → W in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
VAR_020920
Natural varianti315 – 3151R → C in ARCI1.
VAR_058664
Natural varianti315 – 3151R → H in ARCI1.
VAR_058665
Natural varianti315 – 3151R → L in ARCI1.
VAR_058666
Natural varianti323 – 3231R → Q in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
VAR_015221
Natural varianti323 – 3231R → W in ARCI1.
VAR_058667
Natural varianti330 – 3301N → H in ARCI1.
VAR_058668
Natural varianti331 – 3311S → P in ARCI1.
VAR_058669
Natural varianti342 – 3421W → R in ARCI1.
VAR_058670
Natural varianti358 – 3581S → R in ARCI1.
VAR_058671
Natural varianti359 – 3591V → M in ARCI1.
VAR_058672
Natural varianti365 – 3651Y → D in ARCI1.
VAR_058673
Natural varianti366 – 3661L → P in ARCI1.
VAR_058674
Natural varianti372 – 3721V → I.1 Publication
Corresponds to variant rs41293794 [ dbSNP | Ensembl ].
VAR_055374
Natural varianti379 – 3791V → L in ARCI1. 1 Publication
VAR_007480
Natural varianti382 – 3821G → R in ARCI1.
VAR_058675
Natural varianti383 – 3831V → M in ARCI1.
VAR_058676
Natural varianti389 – 3891R → H in ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
VAR_015222
Natural varianti389 – 3891R → P in ARCI1.
VAR_058677
Natural varianti392 – 3921G → D in ARCI1.
VAR_058678
Natural varianti396 – 3961R → H in ARCI1.
VAR_058679
Natural varianti396 – 3961R → L in ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
Corresponds to variant rs121918721 [ dbSNP | Ensembl ].
VAR_007481
Natural varianti396 – 3961R → S in ARCI1.
VAR_058680
Natural varianti401 – 4011F → V in ARCI1.
VAR_058681
Natural varianti430 – 4301D → V in ARCI1.
VAR_058682
Natural varianti473 – 4731G → S in ARCI1.
VAR_058683
Natural varianti490 – 4901D → G in ARCI1.
VAR_058684
Natural varianti518 – 5181V → M.1 Publication
Corresponds to variant rs35312232 [ dbSNP | Ensembl ].
VAR_052550
Natural varianti520 – 5201E → G in ARCI1.
Corresponds to variant rs142404759 [ dbSNP | Ensembl ].
VAR_058685
Natural varianti544 – 5441Y → C in ARCI1.
VAR_058686
Natural varianti607 – 6071R → C.1 Publication
Corresponds to variant rs2229464 [ dbSNP | Ensembl ].
VAR_052551
Natural varianti687 – 6871R → C in ARCI1.
VAR_058687
Natural varianti687 – 6871R → H in ARCI1.
VAR_058688
Natural varianti755 – 7551S → L.1 Publication
Corresponds to variant rs35926651 [ dbSNP | Ensembl ].
VAR_052552
Natural varianti764 – 7641R → C in ARCI1.
VAR_058689
Natural varianti802 – 8021D → V.1 Publication
Corresponds to variant rs2228337 [ dbSNP | Ensembl ].
VAR_024660

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti119 – 1202Missing in M86360. 1 Publication
Sequence conflicti301 – 3011C → A in AAA61156. 1 Publication
Sequence conflicti508 – 5081Q → H in M86360. 1 Publication
Sequence conflicti551 – 5511D → E in M86360. 1 Publication
Sequence conflicti554 – 5541R → A in AAA61166. 1 Publication
Sequence conflicti669 – 6691V → I in AAA61166. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
AK315843 mRNA. Translation: BAF98734.1.
DQ640500 Genomic DNA. Translation: ABF70204.1.
CH471078 Genomic DNA. Translation: EAW66047.1.
BC034699 mRNA. Translation: AAH34699.1.
X57974 mRNA. Translation: CAA41040.1.
CCDSiCCDS9622.1.
PIRiA43401. TGHUM1.
RefSeqiNP_000350.1. NM_000359.2.
UniGeneiHs.508950.

Genome annotation databases

EnsembliENST00000206765; ENSP00000206765; ENSG00000092295.
GeneIDi7051.
KEGGihsa:7051.
UCSCiuc001wod.3. human.

Polymorphism databases

DMDMi57015359.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
AK315843 mRNA. Translation: BAF98734.1 .
DQ640500 Genomic DNA. Translation: ABF70204.1 .
CH471078 Genomic DNA. Translation: EAW66047.1 .
BC034699 mRNA. Translation: AAH34699.1 .
X57974 mRNA. Translation: CAA41040.1 .
CCDSi CCDS9622.1.
PIRi A43401. TGHUM1.
RefSeqi NP_000350.1. NM_000359.2.
UniGenei Hs.508950.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2XZZ X-ray 2.30 A 693-787 [» ]
ProteinModelPortali P22735.
SMRi P22735. Positions 110-787.
ModBasei Search...

Protein-protein interaction databases

BioGridi 112909. 4 interactions.
IntActi P22735. 5 interactions.
STRINGi 9606.ENSP00000206765.

Chemistry

BindingDBi P22735.
ChEMBLi CHEMBL2810.
DrugBanki DB00130. L-Glutamine.

PTM databases

PhosphoSitei P22735.

Polymorphism databases

DMDMi 57015359.

Proteomic databases

MaxQBi P22735.
PaxDbi P22735.
PeptideAtlasi P22735.
PRIDEi P22735.

Protocols and materials databases

DNASUi 7051.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000206765 ; ENSP00000206765 ; ENSG00000092295 .
GeneIDi 7051.
KEGGi hsa:7051.
UCSCi uc001wod.3. human.

Organism-specific databases

CTDi 7051.
GeneCardsi GC14M024718.
GeneReviewsi TGM1.
HGNCi HGNC:11777. TGM1.
HPAi CAB015159.
HPA040171.
MIMi 190195. gene.
242300. phenotype.
neXtProti NX_P22735.
Orphaneti 281127. Acral self-healing collodion baby.
100976. Bathing suit ichthyosis.
79394. Congenital non-bullous ichthyosiform erythroderma.
313. Lamellar ichthyosis.
281122. Self-healing collodion baby.
PharmGKBi PA36490.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG80379.
HOGENOMi HOG000231695.
HOVERGENi HBG004342.
InParanoidi P22735.
KOi K05619.
OMAi GRWGGNP.
OrthoDBi EOG7WT40M.
PhylomeDBi P22735.
TreeFami TF324278.

Miscellaneous databases

GeneWikii Keratinocyte_transglutaminase.
GenomeRNAii 7051.
NextBioi 27569.
PROi P22735.
SOURCEi Search...

Gene expression databases

ArrayExpressi P22735.
Bgeei P22735.
CleanExi HS_TGM1.
Genevestigatori P22735.

Family and domain databases

Gene3Di 2.60.40.10. 3 hits.
3.90.260.10. 1 hit.
InterProi 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 ]
PANTHERi PTHR11590. PTHR11590. 1 hit.
Pfami PF00927. Transglut_C. 2 hits.
PF01841. Transglut_core. 1 hit.
PF00868. Transglut_N. 1 hit.
[Graphical view ]
PIRSFi PIRSF000459. TGM_EBP42. 1 hit.
SMARTi SM00460. TGc. 1 hit.
[Graphical view ]
SUPFAMi SSF49309. SSF49309. 2 hits.
SSF81296. SSF81296. 1 hit.
PROSITEi PS00547. TRANSGLUTAMINASES. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Molecular cloning of human epidermal transglutaminase cDNA from keratinocytes in culture."
    Yamanishi K., Liew F.M., Konishi K., Yasuno H., Doi H., Hirano J., Fukushima S.
    Biochem. Biophys. Res. Commun. 175:906-913(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Keratinocyte.
  3. "The complete amino acid sequence of the human transglutaminase K enzyme deduced from the nucleic acid sequences of cDNA clones."
    Kim H.C., Idler W.W., Kim I.-G., Han J.H., Chung S.-I., Steinert P.M.
    J. Biol. Chem. 266:536-539(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  4. "Genomic structure of keratinocyte transglutaminase. Recruitment of new exon for modified function."
    Phillips M.A., Stewart B.E., Rice R.H.
    J. Biol. Chem. 267:2282-2286(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Placenta.
  5. "Structure and organization of the human transglutaminase 1 gene."
    Kim I.-G., McBride O.W., Wang M., Kim S.-Y., Idler W.W., Steinert P.M.
    J. Biol. Chem. 267:7710-7717(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  6. "Structure of the gene for human transglutaminase 1."
    Yamanishi K., Inazawa J., Liew F., Nonomura K., Ariyama T., Yasuno H., Abe T., Doi H., Hirano J., Fukushima S.
    J. Biol. Chem. 267:17858-17863(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Placenta.
  7. "Organization and evolution of the human epidermal keratinocyte transglutaminase I gene."
    Polakowska R.R., Eickbush T., Falciano V., Razvi F., Goldsmith L.A.
    Proc. Natl. Acad. Sci. U.S.A. 89:4476-4480(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Placenta.
  8. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Esophagus.
  9. NIEHS SNPs program
    Submitted (MAY-2006) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS TYR-42; ILE-372; MET-518; CYS-607; LEU-755 AND VAL-802.
  10. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  11. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Skin.
  12. "Isolation of cDNA for human epidermal type I transglutaminase."
    Polakowska R., Herting E., Goldsmith L.A.
    J. Invest. Dermatol. 96:285-288(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 6-551.
  13. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 375-817.
    Tissue: Skin.
  14. "Identification of phosphorylation sites in keratinocyte transglutaminase."
    Rice R.H., Mehrpouyan M., Quin Q., Phillips M.A., Lee Y.M.
    Biochem. J. 320:547-550(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-24; SER-82; SER-85 AND SER-92.
  15. "Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1."
    Herman M.L., Farasat S., Steinbach P.J., Wei M.H., Toure O., Fleckman P., Blake P., Bale S.J., Toro J.R.
    Hum. Mutat. 30:537-547(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON VARIANTS.
  16. "Crystal structure of the human transglutaminase 1 beta-barrel domain."
    Structural genomics consortium (SGC)
    Submitted (JAN-2011) to the PDB data bank
    Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 693-787.
  17. Cited for: VARIANTS ARCI1 TYR-42 AND GLN-323.
  18. "Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis."
    Russell L.J., Digiovanna J.J., Rogers G.R., Steinert P.M., Hashem N., Compton J.G., Bale S.J.
    Nat. Genet. 9:279-283(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARCI1 HIS-142 AND HIS-143.
  19. "Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population."
    Laiho E., Ignatius J., Mikkola H., Yee V.C., Teller D.C., Niemi K.-M., Saarialho-Kere U., Kere J., Palotie A.
    Am. J. Hum. Genet. 61:529-538(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARCI1 HIS-142; CYS-143; SER-218; LEU-379 AND LEU-396.
  20. "Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma."
    Akiyama M., Takizawa Y., Kokaji T., Shimizu H.
    Br. J. Dermatol. 144:401-407(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARCI1 HIS-389.
  21. Cited for: VARIANTS ARCI1 VAL-102; THR-289 AND TRP-307.
  22. "Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients."
    Vahlquist A., Bygum A., Gaanemo A., Virtanen M., Hellstroem-Pigg M., Strauss G., Brandrup F., Fischer J.
    J. Invest. Dermatol. 130:438-443(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARCI1 GLY-307.

Entry informationi

Entry nameiTGM1_HUMAN
AccessioniPrimary (citable) accession number: P22735
Secondary accession number(s): Q197M4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1991
Last sequence update: January 4, 2005
Last modified: July 9, 2014
This is version 155 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

External Data

Dasty 3

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