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Protein

Protein-glutamine gamma-glutamyltransferase K

Gene

TGM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Caution

Catalytic activityi

A protein-L-glutamine + a protein-L-lysine = a protein with an N6-(gamma-glutamyl)-L-lysine cross-link + 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
  • cornification Source: Reactome
  • keratinocyte differentiation Source: UniProtKB
  • peptide cross-linking Source: CAFA
  • positive regulation of cell cycle Source: UniProtKB
  • positive regulation of keratinocyte proliferation Source: UniProtKB

Keywordsi

Molecular functionAcyltransferase, Transferase
Biological processKeratinization
LigandCalcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-6809371 Formation of the cornified envelope
SIGNORiP22735

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

EuPathDBiHostDB:ENSG00000092295.11
HGNCiHGNC:11777 TGM1
MIMi190195 gene
neXtProtiNX_P22735

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs41295338Ensembl.1
Natural variantiVAR_05863853C → S in ARCI1. 1
Natural variantiVAR_05863994G → D in ARCI1. Corresponds to variant dbSNP:rs121918729Ensembl.1
Natural variantiVAR_020918102D → V in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs398122901Ensembl.1
Natural variantiVAR_058640126R → C in ARCI1. Corresponds to variant dbSNP:rs397514524Ensembl.1
Natural variantiVAR_058641126R → H in ARCI1. Corresponds to variant dbSNP:rs200491579Ensembl.1
Natural variantiVAR_058642134Y → C in ARCI1. Corresponds to variant dbSNP:rs147916609Ensembl.1
Natural variantiVAR_058643142R → C in ARCI1. Corresponds to variant dbSNP:rs121918716Ensembl.1
Natural variantiVAR_007476142R → H in ARCI1; skin phenotype consistent with lamellar ichthyosis. 2 PublicationsCorresponds to variant dbSNP:rs121918718Ensembl.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 dbSNP:rs531650682Ensembl.1
Natural variantiVAR_007478143R → H in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs121918719Ensembl.1
Natural variantiVAR_058645144G → E in ARCI1. 1
Natural variantiVAR_058646144G → R in ARCI1. Corresponds to variant dbSNP:rs778635368Ensembl.1
Natural variantiVAR_058647160S → C in ARCI1. Corresponds to variant dbSNP:rs121918728Ensembl.1
Natural variantiVAR_058648205L → Q in ARCI1. Corresponds to variant dbSNP:rs878853259Ensembl.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 dbSNP:rs121918732Ensembl.1
Natural variantiVAR_058650225R → H in ARCI1. Corresponds to variant dbSNP:rs549195122Ensembl.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 dbSNP:rs781006633Ensembl.1
Natural variantiVAR_058655264R → W in ARCI1. Corresponds to variant dbSNP:rs201868387Ensembl.1
Natural variantiVAR_058656272S → P in ARCI1. Corresponds to variant dbSNP:rs764040146Ensembl.1
Natural variantiVAR_058657276Y → N in ARCI1. Corresponds to variant dbSNP:rs397514523Ensembl.1
Natural variantiVAR_058658278G → R in ARCI1. Corresponds to variant dbSNP:rs121918725Ensembl.1
Natural variantiVAR_058659285E → K in ARCI1. Corresponds to variant dbSNP:rs749721551Ensembl.1
Natural variantiVAR_058660286R → Q in ARCI1. Corresponds to variant dbSNP:rs121918727Ensembl.1
Natural variantiVAR_020919289N → T in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs121918730Ensembl.1
Natural variantiVAR_058661293F → V in ARCI1. 1
Natural variantiVAR_058662304I → F in ARCI1. Corresponds to variant dbSNP:rs753798494Ensembl.1
Natural variantiVAR_058663307R → G in ARCI1. 1 PublicationCorresponds to variant dbSNP:rs121918731Ensembl.1
Natural variantiVAR_020920307R → W in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs121918731Ensembl.1
Natural variantiVAR_058664315R → C in ARCI1. Corresponds to variant dbSNP:rs397514525Ensembl.1
Natural variantiVAR_058665315R → H in ARCI1. Corresponds to variant dbSNP:rs143473912Ensembl.1
Natural variantiVAR_058666315R → L in ARCI1. Corresponds to variant dbSNP:rs143473912Ensembl.1
Natural variantiVAR_015221323R → Q in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs121918717Ensembl.1
Natural variantiVAR_058667323R → W in ARCI1. Corresponds to variant dbSNP:rs771820315Ensembl.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 dbSNP:rs779287673Ensembl.1
Natural variantiVAR_058672359V → M in ARCI1. Corresponds to variant dbSNP:rs202037016Ensembl.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 dbSNP:rs121918720Ensembl.1
Natural variantiVAR_058675382G → R in ARCI1. 1
Natural variantiVAR_058676383V → M in ARCI1. Corresponds to variant dbSNP:rs121918722Ensembl.1
Natural variantiVAR_015222389R → H in ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant dbSNP:rs121918723Ensembl.1
Natural variantiVAR_058677389R → P in ARCI1. Corresponds to variant dbSNP:rs121918723Ensembl.1
Natural variantiVAR_058678392G → D in ARCI1. Corresponds to variant dbSNP:rs121918726Ensembl.1
Natural variantiVAR_058679396R → H in ARCI1. Corresponds to variant dbSNP:rs121918721Ensembl.1
Natural variantiVAR_007481396R → L in ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant dbSNP:rs121918721Ensembl.1
Natural variantiVAR_058680396R → S in ARCI1. 1
Natural variantiVAR_058681401F → V in ARCI1. Corresponds to variant dbSNP:rs991194429Ensembl.1
Natural variantiVAR_058682430D → V in ARCI1. 1
Natural variantiVAR_058683473G → S in ARCI1. Corresponds to variants dbSNP:rs904122716 and dbSNP:rs1057517838EnsemblEnsembl.1
Natural variantiVAR_058684490D → G in ARCI1. Corresponds to variant dbSNP:rs121918724Ensembl.1
Natural variantiVAR_058685520E → G in ARCI1. Corresponds to variant dbSNP:rs142404759Ensembl.1
Natural variantiVAR_058686544Y → C in ARCI1. Corresponds to variant dbSNP:rs1044429462Ensembl.1
Natural variantiVAR_058687687R → C in ARCI1. Corresponds to variant dbSNP:rs147516124Ensembl.1
Natural variantiVAR_058688687R → H in ARCI1. 1
Natural variantiVAR_058689764R → C in ARCI1. Corresponds to variant dbSNP:rs201853046Ensembl.1

Keywords - Diseasei

Disease mutation, Ichthyosis

Organism-specific databases

DisGeNETi7051
GeneReviewsiTGM1
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

CarbonylDBiP22735
iPTMnetiP22735
PhosphoSitePlusiP22735
SwissPalmiP22735

Expressioni

Gene expression databases

BgeeiENSG00000092295
CleanExiHS_TGM1
ExpressionAtlasiP22735 baseline and differential
GenevisibleiP22735 HS

Organism-specific databases

HPAiCAB015159
HPA040171

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
B2R4U64EBI-2562368,EBI-10175477

Protein-protein interaction databases

BioGridi11290945 interactors.
IntActiP22735 34 interactors.
MINTiP22735
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
OMAiNMREDIT
OrthoDBiEOG091G030K
PhylomeDBiP22735
TreeFamiTF324278

Family and domain databases

Gene3Di2.60.40.103 hits
3.90.260.101 hit
InterProiView protein in InterPro
IPR013783 Ig-like_fold
IPR014756 Ig_E-set
IPR002931 Transglutaminase-like
IPR036985 Transglutaminase-like_sf
IPR023608 Transglutaminase_animal
IPR013808 Transglutaminase_AS
IPR008958 Transglutaminase_C
IPR036238 Transglutaminase_C_sf
IPR001102 Transglutaminase_N
PfamiView protein in Pfam
PF00927 Transglut_C, 2 hits
PF01841 Transglut_core, 1 hit
PF00868 Transglut_N, 1 hit
PIRSFiPIRSF000459 TGM_EBP42, 1 hit
SMARTiView protein in SMART
SM00460 TGc, 1 hit
SUPFAMiSSF49309 SSF49309, 2 hits
SSF81296 SSF81296, 1 hit
PROSITEiView protein in PROSITE
PS00547 TRANSGLUTAMINASES, 1 hit

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 dbSNP:rs41295338Ensembl.1
Natural variantiVAR_05863853C → S in ARCI1. 1
Natural variantiVAR_05863994G → D in ARCI1. Corresponds to variant dbSNP:rs121918729Ensembl.1
Natural variantiVAR_020918102D → V in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs398122901Ensembl.1
Natural variantiVAR_058640126R → C in ARCI1. Corresponds to variant dbSNP:rs397514524Ensembl.1
Natural variantiVAR_058641126R → H in ARCI1. Corresponds to variant dbSNP:rs200491579Ensembl.1
Natural variantiVAR_029268132D → N. Corresponds to variant dbSNP:rs2229462Ensembl.1
Natural variantiVAR_058642134Y → C in ARCI1. Corresponds to variant dbSNP:rs147916609Ensembl.1
Natural variantiVAR_058643142R → C in ARCI1. Corresponds to variant dbSNP:rs121918716Ensembl.1
Natural variantiVAR_007476142R → H in ARCI1; skin phenotype consistent with lamellar ichthyosis. 2 PublicationsCorresponds to variant dbSNP:rs121918718Ensembl.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 dbSNP:rs531650682Ensembl.1
Natural variantiVAR_007478143R → H in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs121918719Ensembl.1
Natural variantiVAR_058645144G → E in ARCI1. 1
Natural variantiVAR_058646144G → R in ARCI1. Corresponds to variant dbSNP:rs778635368Ensembl.1
Natural variantiVAR_058647160S → C in ARCI1. Corresponds to variant dbSNP:rs121918728Ensembl.1
Natural variantiVAR_058648205L → Q in ARCI1. Corresponds to variant dbSNP:rs878853259Ensembl.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 dbSNP:rs121918732Ensembl.1
Natural variantiVAR_058650225R → H in ARCI1. Corresponds to variant dbSNP:rs549195122Ensembl.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 dbSNP:rs781006633Ensembl.1
Natural variantiVAR_058655264R → W in ARCI1. Corresponds to variant dbSNP:rs201868387Ensembl.1
Natural variantiVAR_058656272S → P in ARCI1. Corresponds to variant dbSNP:rs764040146Ensembl.1
Natural variantiVAR_058657276Y → N in ARCI1. Corresponds to variant dbSNP:rs397514523Ensembl.1
Natural variantiVAR_058658278G → R in ARCI1. Corresponds to variant dbSNP:rs121918725Ensembl.1
Natural variantiVAR_058659285E → K in ARCI1. Corresponds to variant dbSNP:rs749721551Ensembl.1
Natural variantiVAR_058660286R → Q in ARCI1. Corresponds to variant dbSNP:rs121918727Ensembl.1
Natural variantiVAR_020919289N → T in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs121918730Ensembl.1
Natural variantiVAR_058661293F → V in ARCI1. 1
Natural variantiVAR_058662304I → F in ARCI1. Corresponds to variant dbSNP:rs753798494Ensembl.1
Natural variantiVAR_058663307R → G in ARCI1. 1 PublicationCorresponds to variant dbSNP:rs121918731Ensembl.1
Natural variantiVAR_020920307R → W in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs121918731Ensembl.1
Natural variantiVAR_058664315R → C in ARCI1. Corresponds to variant dbSNP:rs397514525Ensembl.1
Natural variantiVAR_058665315R → H in ARCI1. Corresponds to variant dbSNP:rs143473912Ensembl.1
Natural variantiVAR_058666315R → L in ARCI1. Corresponds to variant dbSNP:rs143473912Ensembl.1
Natural variantiVAR_015221323R → Q in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs121918717Ensembl.1
Natural variantiVAR_058667323R → W in ARCI1. Corresponds to variant dbSNP:rs771820315Ensembl.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 dbSNP:rs779287673Ensembl.1
Natural variantiVAR_058672359V → M in ARCI1. Corresponds to variant dbSNP:rs202037016Ensembl.1
Natural variantiVAR_058673365Y → D in ARCI1. 1
Natural variantiVAR_058674366L → P in ARCI1. 1
Natural variantiVAR_055374372V → I1 PublicationCorresponds to variant dbSNP:rs41293794Ensembl.1
Natural variantiVAR_007480379V → L in ARCI1. 1 PublicationCorresponds to variant dbSNP:rs121918720Ensembl.1
Natural variantiVAR_058675382G → R in ARCI1. 1
Natural variantiVAR_058676383V → M in ARCI1. Corresponds to variant dbSNP:rs121918722Ensembl.1
Natural variantiVAR_015222389R → H in ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant dbSNP:rs121918723Ensembl.1
Natural variantiVAR_058677389R → P in ARCI1. Corresponds to variant dbSNP:rs121918723Ensembl.1
Natural variantiVAR_058678392G → D in ARCI1. Corresponds to variant dbSNP:rs121918726Ensembl.1
Natural variantiVAR_058679396R → H in ARCI1. Corresponds to variant dbSNP:rs121918721Ensembl.1
Natural variantiVAR_007481396R → L in ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant dbSNP:rs121918721Ensembl.1
Natural variantiVAR_058680396R → S in ARCI1. 1
Natural variantiVAR_058681401F → V in ARCI1. Corresponds to variant dbSNP:rs991194429Ensembl.1
Natural variantiVAR_058682430D → V in ARCI1. 1
Natural variantiVAR_058683473G → S in ARCI1. Corresponds to variants dbSNP:rs904122716 and dbSNP:rs1057517838EnsemblEnsembl.1
Natural variantiVAR_058684490D → G in ARCI1. Corresponds to variant dbSNP:rs121918724Ensembl.1
Natural variantiVAR_052550518V → M1 PublicationCorresponds to variant dbSNP:rs35312232Ensembl.1
Natural variantiVAR_058685520E → G in ARCI1. Corresponds to variant dbSNP:rs142404759Ensembl.1
Natural variantiVAR_058686544Y → C in ARCI1. Corresponds to variant dbSNP:rs1044429462Ensembl.1
Natural variantiVAR_052551607R → C1 PublicationCorresponds to variant dbSNP:rs2229464Ensembl.1
Natural variantiVAR_058687687R → C in ARCI1. Corresponds to variant dbSNP:rs147516124Ensembl.1
Natural variantiVAR_058688687R → H in ARCI1. 1
Natural variantiVAR_052552755S → L1 PublicationCorresponds to variant dbSNP:rs35926651Ensembl.1
Natural variantiVAR_058689764R → C in ARCI1. Corresponds to variant dbSNP:rs201853046Ensembl.1
Natural variantiVAR_024660802D → V1 PublicationCorresponds to variant dbSNP:rs2228337Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiTGM1_HUMAN
AccessioniPrimary (citable) accession number: P22735
Secondary accession number(s): B4DWR7, Q197M4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1991
Last sequence update: January 4, 2005
Last modified: March 28, 2018
This is version 190 of the entry and version 4 of the sequence. See 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