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P01266

- THYG_HUMAN

UniProt

P01266 - THYG_HUMAN

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Protein
Thyroglobulin
Gene
TG
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Precursor of the iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3).

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei110 – 1101Not glycosylated (PubMed:8615697)
Sitei496 – 4961Not glycosylated (PubMed:8615697)
Sitei1869 – 18691Not glycosylated (PubMed:8615697)
Sitei2122 – 21221Not glycosylated (PubMed:8615697)

GO - Biological processi

  1. hormone biosynthetic process Source: UniProtKB-KW
  2. iodide transport Source: Ensembl
  3. regulation of myelination Source: Ensembl
  4. signal transduction Source: ProtInc
  5. thyroid gland development Source: UniProtKB
  6. thyroid hormone generation Source: RefGenome
Complete GO annotation...

Keywords - Molecular functioni

Hormone, Thyroid hormone

Keywords - Biological processi

Thyroid hormones biosynthesis

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000042832-MONOMER.

Protein family/group databases

MEROPSiI31.950.

Names & Taxonomyi

Protein namesi
Recommended name:
Thyroglobulin
Short name:
Tg
Gene namesi
Name:TG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:11764. TG.

Subcellular locationi

GO - Cellular componenti

  1. extracellular region Source: UniProtKB
  2. extracellular space Source: RefGenome
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Thyroid dyshormonogenesis 3 (TDH3) [MIM:274700]: A disorder due to thyroid dyshormonogenesis, causing large goiters of elastic and soft consistency in the majority of patients. Although the degree of thyroid dysfunction varies considerably among patients with defective thyroglobulin synthesis, patients usually have a relatively high serum free triiodothyronine (T3) concentration with disproportionately low free tetraiodothyronine (T4) level. The maintenance of relatively high free T3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti183 – 1831C → Y in TDH3. 1 Publication
VAR_063034
Natural varianti1264 – 12641C → R in TDH3; autosomal recessive. 1 Publication
Corresponds to variant rs2076738 [ dbSNP | Ensembl ].
VAR_010216
Natural varianti1897 – 18971C → Y in TDH3. 1 Publication
VAR_063035
Natural varianti1996 – 19961C → S in TDH3; autosomal recessive. 1 Publication
Corresponds to variant rs2076739 [ dbSNP | Ensembl ].
VAR_010219
Natural varianti2234 – 22341A → D in TDH3; reduces thyroglobulin synthesis and secretion; promotes thyroglobulin retention within the endoplasmic reticulum. 2 Publications
VAR_063036
Natural varianti2336 – 23361R → Q in TDH3. 1 Publication
VAR_063037
Natural varianti2375 – 23751G → R in TDH3. 1 Publication
VAR_063038
Autoimmune thyroid disease 3 (AITD3) [MIM:608175]: A complex autoimmune disorder comprising two related diseases affecting the thyroid: Graves disease and Hashimoto thyroiditis. In both disorders, thyroid-reactive T-cells are formed and infiltrate the thyroid gland. In Graves disease, the majority of the T-cells undergo a Th2 differentiation and activate B-cells to produce antibodies against the TSH receptor, which stimulate the thyroid and cause clinical hyperthyroidism. In contrast, Hashimoto thyroiditis is characterized by Th1 switching of the thyroid-infiltrating T-cells, which induces apoptosis of thyroid follicular cells and clinical hypothyroidism.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti734 – 7341S → A Polymorphism associated with AITD3. 3 Publications
Corresponds to variant rs180223 [ dbSNP | Ensembl ].
VAR_010213
Natural varianti1028 – 10281M → V Polymorphism associated with AITD3. 2 Publications
Corresponds to variant rs853326 [ dbSNP | Ensembl ].
VAR_010215
Natural varianti1979 – 19791R → W Polymorphism associated with AITD3. 1 Publication
VAR_032013

Keywords - Diseasei

Congenital hypothyroidism, Disease mutation

Organism-specific databases

MIMi274700. phenotype.
608175. phenotype.
Orphaneti95716. Familial thyroid dyshormonogenesis.
PharmGKBiPA36479.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1919
Add
BLAST
Chaini20 – 27682749Thyroglobulin
PRO_0000008636Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei24 – 241Sulfotyrosine; alternate By similarity
Modified residuei24 – 241Thyroxine; alternate
Disulfide bondi34 ↔ 52 By similarity
Disulfide bondi63 ↔ 70 By similarity
Disulfide bondi72 ↔ 92 By similarity
Glycosylationi76 – 761N-linked (GlcNAc...)1 Publication
Disulfide bondi96 ↔ 120 By similarity
Disulfide bondi131 ↔ 138 By similarity
Disulfide bondi140 ↔ 160 By similarity
Disulfide bondi164 ↔ 183 By similarity
Disulfide bondi194 ↔ 235 By similarity
Glycosylationi198 – 1981N-linked (GlcNAc...)1 Publication
Disulfide bondi301 ↔ 319 By similarity
Disulfide bondi330 ↔ 336 By similarity
Disulfide bondi338 ↔ 358 By similarity
Glycosylationi484 – 4841N-linked (GlcNAc...)1 Publication
Glycosylationi529 – 5291N-linked (GlcNAc...)1 Publication
Disulfide bondi608 ↔ 620 By similarity
Disulfide bondi631 ↔ 636 By similarity
Disulfide bondi638 ↔ 658 By similarity
Disulfide bondi662 ↔ 687 By similarity
Disulfide bondi698 ↔ 703 By similarity
Disulfide bondi705 ↔ 726 By similarity
Disulfide bondi730 ↔ 763 By similarity
Glycosylationi748 – 7481N-linked (GlcNAc...)1 Publication
Disulfide bondi774 ↔ 898 By similarity
Glycosylationi816 – 8161N-linked (GlcNAc...)1 Publication
Disulfide bondi900 ↔ 921 By similarity
Glycosylationi947 – 9471N-linked (GlcNAc...)1 Publication
Disulfide bondi1042 ↔ 1049 By similarity
Disulfide bondi1051 ↔ 1073 By similarity
Disulfide bondi1077 ↔ 1108 By similarity
Disulfide bondi1126 ↔ 1145 By similarity
Disulfide bondi1149 ↔ 1169 By similarity
Disulfide bondi1181 ↔ 1188 By similarity
Disulfide bondi1190 ↔ 1210 By similarity
Glycosylationi1220 – 12201N-linked (GlcNAc...)1 Publication
Modified residuei1310 – 13101Thyroxine
Glycosylationi1348 – 13481N-linked (GlcNAc...) Inferred
Glycosylationi1349 – 13491N-linked (GlcNAc...)1 Publication
Glycosylationi1365 – 13651N-linked (GlcNAc...)1 Publication
Disulfide bondi1514 ↔ 1523 By similarity
Disulfide bondi1543 ↔ 1565 By similarity
Glycosylationi1716 – 17161N-linked (GlcNAc...)1 Publication
Glycosylationi1774 – 17741N-linked (GlcNAc...)1 Publication
Glycosylationi2013 – 20131N-linked (GlcNAc...)1 Publication
Glycosylationi2250 – 22501N-linked (GlcNAc...)1 Publication
Disulfide bondi2264 ↔ 2281 Reviewed prediction
Glycosylationi2295 – 22951N-linked (GlcNAc...)1 Publication
Modified residuei2573 – 25731Thyroxine
Glycosylationi2582 – 25821N-linked (GlcNAc...)1 Publication
Modified residuei2587 – 25871Thyroxine
Glycosylationi2749 – 27491O-linked (Xyl...) (chondroitin sulfate)1 Publication
Modified residuei2766 – 27661Triiodothyronine

Post-translational modificationi

Sulfated tyrosines are desulfated during iodination.

Keywords - PTMi

Disulfide bond, Glycoprotein, Iodination, Sulfation

Proteomic databases

PaxDbiP01266.
PRIDEiP01266.

PTM databases

PhosphoSiteiP01266.

Expressioni

Tissue specificityi

Thyroid gland specific.

Gene expression databases

ArrayExpressiP01266.
BgeeiP01266.
GenevestigatoriP01266.

Organism-specific databases

HPAiCAB000077.
CAB056155.
HPA002740.

Interactioni

Subunit structurei

Homodimer.

Protein-protein interaction databases

BioGridi112896. 3 interactions.
IntActiP01266. 2 interactions.

Structurei

3D structure databases

ProteinModelPortaliP01266.
SMRiP01266. Positions 2204-2728.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini31 – 9262Thyroglobulin type-1 1
Add
BLAST
Domaini93 – 16068Thyroglobulin type-1 2
Add
BLAST
Domaini161 – 297137Thyroglobulin type-1 3
Add
BLAST
Domaini298 – 35861Thyroglobulin type-1 4
Add
BLAST
Domaini605 – 65854Thyroglobulin type-1 5
Add
BLAST
Domaini659 – 72668Thyroglobulin type-1 6
Add
BLAST
Domaini727 – 921195Thyroglobulin type-1 7
Add
BLAST
Domaini922 – 1073152Thyroglobulin type-1 8
Add
BLAST
Domaini1074 – 114572Thyroglobulin type-1 9
Add
BLAST
Domaini1146 – 121065Thyroglobulin type-1 10
Add
BLAST
Repeati1456 – 146914Type II
Add
BLAST
Repeati1470 – 148617Type II
Add
BLAST
Repeati1487 – 150317Type II
Add
BLAST
Domaini1511 – 156555Thyroglobulin type-1 11
Add
BLAST
Repeati1603 – 1723121Type IIIA
Add
BLAST
Repeati1724 – 1892169Type IIIB
Add
BLAST
Repeati1893 – 1995103Type IIIA
Add
BLAST
Repeati1996 – 2129134Type IIIB
Add
BLAST
Repeati2130 – 218758Type IIIA
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiCOG2272.
HOVERGENiHBG017929.
InParanoidiP01266.
KOiK10809.
OMAiLRSCWCV.
OrthoDBiEOG77M8MP.
PhylomeDBiP01266.
TreeFamiTF351833.

Family and domain databases

Gene3Di3.40.50.1820. 1 hit.
4.10.800.10. 13 hits.
InterProiIPR029058. AB_hydrolase.
IPR002018. CarbesteraseB.
IPR019819. Carboxylesterase_B_CS.
IPR016324. Thyroglobulin.
IPR000716. Thyroglobulin_1.
IPR011641. Tyr-kin_ephrin_A/B_rcpt-like.
[Graphical view]
PfamiPF00135. COesterase. 1 hit.
PF07699. GCC2_GCC3. 1 hit.
PF00086. Thyroglobulin_1. 8 hits.
[Graphical view]
PIRSFiPIRSF001831. Thyroglobulin. 1 hit.
SMARTiSM00211. TY. 10 hits.
[Graphical view]
SUPFAMiSSF53474. SSF53474. 1 hit.
SSF57610. SSF57610. 13 hits.
PROSITEiPS00941. CARBOXYLESTERASE_B_2. 1 hit.
PS00484. THYROGLOBULIN_1_1. 9 hits.
PS51162. THYROGLOBULIN_1_2. 11 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P01266-1) [UniParc]FASTAAdd to Basket

Also known as: Major

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

MALVLEIFTL LASICWVSAN IFEYQVDAQP LRPCELQRET AFLKQADYVP     50
QCAEDGSFQT VQCQNDGRSC WCVGANGSEV LGSRQPGRPV ACLSFCQLQK 100
QQILLSGYIN STDTSYLPQC QDSGDYAPVQ CDVQQVQCWC VDAEGMEVYG 150
TRQLGRPKRC PRSCEIRNRR LLHGVGDKSP PQCSAEGEFM PVQCKFVNTT 200
DMMIFDLVHS YNRFPDAFVT FSSFQRRFPE VSGYCHCADS QGRELAETGL 250
ELLLDEIYDT IFAGLDLPST FTETTLYRIL QRRFLAVQSV ISGRFRCPTK 300
CEVERFTATS FGHPYVPSCR RNGDYQAVQC QTEGPCWCVD AQGKEMHGTR 350
QQGEPPSCAE GQSCASERQQ ALSRLYFGTS GYFSQHDLFS SPEKRWASPR 400
VARFATSCPP TIKELFVDSG LLRPMVEGQS QQFSVSENLL KEAIRAIFPS 450
RGLARLALQF TTNPKRLQQN LFGGKFLVNV GQFNLSGALG TRGTFNFSQF 500
FQQLGLASFL NGGRQEDLAK PLSVGLDSNS STGTPEAAKK DGTMNKPTVG 550
SFGFEINLQE NQNALKFLAS LLELPEFLLF LQHAISVPED VARDLGDVME 600
TVLSSQTCEQ TPERLFVPSC TTEGSYEDVQ CFSGECWCVN SWGKELPGSR 650
VRGGQPRCPT DCEKQRARMQ SLMGSQPAGS TLFVPACTSE GHFLPVQCFN 700
SECYCVDAEG QAIPGTRSAI GKPKKCPTPC QLQSEQAFLR TVQALLSNSS 750
MLPTLSDTYI PQCSTDGQWR QVQCNGPPEQ VFELYQRWEA QNKGQDLTPA 800
KLLVKIMSYR EAASGNFSLF IQSLYEAGQQ DVFPVLSQYP SLQDVPLAAL 850
EGKRPQPREN ILLEPYLFWQ ILNGQLSQYP GSYSDFSTPL AHFDLRNCWC 900
VDEAGQELEG MRSEPSKLPT CPGSCEEAKL RVLQFIRETE EIVSASNSSR 950
FPLGESFLVA KGIRLRNEDL GLPPLFPPRE AFAEQFLRGS DYAIRLAAQS 1000
TLSFYQRRRF SPDDSAGASA LLRSGPYMPQ CDAFGSWEPV QCHAGTGHCW 1050
CVDEKGGFIP GSLTARSLQI PQCPTTCEKS RTSGLLSSWK QARSQENPSP 1100
KDLFVPACLE TGEYARLQAS GAGTWCVDPA SGEELRPGSS SSAQCPSLCN 1150
VLKSGVLSRR VSPGYVPACR AEDGGFSPVQ CDQAQGSCWC VMDSGEEVPG 1200
TRVTGGQPAC ESPRCPLPFN ASEVVGGTIL CETISGPTGS AMQQCQLLCR 1250
QGSWSVFPPG PLICSLESGR WESQLPQPRA CQRPQLWQTI QTQGHFQLQL 1300
PPGKMCSADY ADLLQTFQVF ILDELTARGF CQIQVKTFGT LVSIPVCNNS 1350
SVQVGCLTRE RLGVNVTWKS RLEDIPVASL PDLHDIERAL VGKDLLGRFT 1400
DLIQSGSFQL HLDSKTFPAE TIRFLQGDHF GTSPRTWFGC SEGFYQVLTS 1450
EASQDGLGCV KCPEGSYSQD EECIPCPVGF YQEQAGSLAC VPCPVGRTTI 1500
SAGAFSQTHC VTDCQRNEAG LQCDQNGQYR ASQKDRGSGK AFCVDGEGRR 1550
LPWWETEAPL EDSQCLMMQK FEKVPESKVI FDANAPVAVR SKVPDSEFPV 1600
MQCLTDCTED EACSFFTVST TEPEISCDFY AWTSDNVACM TSDQKRDALG 1650
NSKATSFGSL RCQVKVRSHG QDSPAVYLKK GQGSTTTLQK RFEPTGFQNM 1700
LSGLYNPIVF SASGANLTDA HLFCLLACDR DLCCDGFVLT QVQGGAIICG 1750
LLSSPSVLLC NVKDWMDPSE AWANATCPGV TYDQESHQVI LRLGDQEFIK 1800
SLTPLEGTQD TFTNFQQVYL WKDSDMGSRP ESMGCRKDTV PRPASPTEAG 1850
LTTELFSPVD LNQVIVNGNQ SLSSQKHWLF KHLFSAQQAN LWCLSRCVQE 1900
HSFCQLAEIT ESASLYFTCT LYPEAQVCDD IMESNAQGCR LILPQMPKAL 1950
FRKKVILEDK VKNFYTRLPF QKLMGISIRN KVPMSEKSIS NGFFECERRC 2000
DADPCCTGFG FLNVSQLKGG EVTCLTLNSL GIQMCSEENG GAWRILDCGS 2050
PDIEVHTYPF GWYQKPIAQN NAPSFCPLVV LPSLTEKVSL DSWQSLALSS 2100
VVVDPSIRHF DVAHVSTAAT SNFSAVRDLC LSECSQHEAC LITTLQTQPG 2150
AVRCMFYADT QSCTHSLQGQ NCRLLLREEA THIYRKPGIS LLSYEASVPS 2200
VPISTHGRLL GRSQAIQVGT SWKQVDQFLG VPYAAPPLAE RRFQAPEPLN 2250
WTGSWDASKP RASCWQPGTR TSTSPGVSED CLYLNVFIPQ NVAPNASVLV 2300
FFHNTMDREE SEGWPAIDGS FLAAVGNLIV VTASYRVGVF GFLSSGSGEV 2350
SGNWGLLDQV AALTWVQTHI RGFGGDPRRV SLAADRGGAD VASIHLLTAR 2400
ATNSQLFRRA VLMGGSALSP AAVISHERAQ QQAIALAKEV SCPMSSSQEV 2450
VSCLRQKPAN VLNDAQTKLL AVSGPFHYWG PVIDGHFLRE PPARALKRSL 2500
WVEVDLLIGS SQDDGLINRA KAVKQFEESR GRTSSKTAFY QALQNSLGGE 2550
DSDARVEAAA TWYYSLEHST DDYASFSRAL ENATRDYFII CPIIDMASAW 2600
AKRARGNVFM YHAPENYGHG SLELLADVQF ALGLPFYPAY EGQFSLEEKS 2650
LSLKIMQYFS HFIRSGNPNY PYEFSRKVPT FATPWPDFVP RAGGENYKEF 2700
SELLPNRQGL KKADCSFWSK YISSLKTSAD GAKGGQSAES EEEELTAGSG 2750
LREDLLSLQE PGSKTYSK 2768
Length:2,768
Mass (Da):304,790
Last modified:February 20, 2007 - v5
Checksum:i69A87D935F1BAA72
GO
Isoform 2 (identifier: P01266-2) [UniParc]FASTAAdd to Basket

Also known as: Minor

The sequence of this isoform differs from the canonical sequence as follows:
     1510-1567: CVTDCQRNEAGLQCDQNGQYRASQKDRGSGKAFCVDGEGRRLPWWETEAPLEDSQCLM → L

Show »
Length:2,711
Mass (Da):298,383
Checksum:iEEC6895F22D55EE0
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti135 – 1351Q → H.1 Publication
Corresponds to variant rs2069546 [ dbSNP | Ensembl ].
VAR_010212
Natural varianti183 – 1831C → Y in TDH3. 1 Publication
VAR_063034
Natural varianti515 – 5151Q → E.1 Publication
Corresponds to variant rs180222 [ dbSNP | Ensembl ].
VAR_016190
Natural varianti604 – 6041S → D Requires 2 nucleotide substitutions. 3 Publications
Corresponds to variant rs2069547 [ dbSNP | Ensembl ].
VAR_016852
Natural varianti653 – 6531G → D.3 Publications
Corresponds to variant rs2069548 [ dbSNP | Ensembl ].
VAR_016853
Natural varianti734 – 7341S → A Polymorphism associated with AITD3. 3 Publications
Corresponds to variant rs180223 [ dbSNP | Ensembl ].
VAR_010213
Natural varianti777 – 7771P → L.
Corresponds to variant rs3739274 [ dbSNP | Ensembl ].
VAR_049077
Natural varianti815 – 8151G → R.
Corresponds to variant rs16904774 [ dbSNP | Ensembl ].
VAR_049078
Natural varianti830 – 8301Q → E.1 Publication
Corresponds to variant rs2076737 [ dbSNP | Ensembl ].
VAR_010214
Natural varianti870 – 8701Q → H.1 Publication
Corresponds to variant rs2229843 [ dbSNP | Ensembl ].
VAR_002365
Natural varianti985 – 9851Missing.2 Publications
VAR_016854
Natural varianti988 – 9881R → P.
Corresponds to variant rs16893332 [ dbSNP | Ensembl ].
VAR_049079
Natural varianti1028 – 10281M → V Polymorphism associated with AITD3. 2 Publications
Corresponds to variant rs853326 [ dbSNP | Ensembl ].
VAR_010215
Natural varianti1043 – 10431H → Y.2 Publications
VAR_016855
Natural varianti1059 – 10591I → T.2 Publications
VAR_016856
Natural varianti1063 – 10631L → M.
Corresponds to variant rs11992497 [ dbSNP | Ensembl ].
VAR_049080
Natural varianti1222 – 12221S → L.
Corresponds to variant rs12549018 [ dbSNP | Ensembl ].
VAR_049081
Natural varianti1264 – 12641C → R in TDH3; autosomal recessive. 1 Publication
Corresponds to variant rs2076738 [ dbSNP | Ensembl ].
VAR_010216
Natural varianti1312 – 13121D → G.3 Publications
Corresponds to variant rs2069556 [ dbSNP | Ensembl ].
VAR_010217
Natural varianti1437 – 14371W → R.2 Publications
Corresponds to variant rs2069558 [ dbSNP | Ensembl ].
VAR_016857
Natural varianti1463 – 14631P → H.2 Publications
VAR_016858
Natural varianti1740 – 17401T → K.
Corresponds to variant rs16904791 [ dbSNP | Ensembl ].
VAR_049082
Natural varianti1838 – 18381D → N.1 Publication
Corresponds to variant rs2069561 [ dbSNP | Ensembl ].
VAR_010218
Natural varianti1897 – 18971C → Y in TDH3. 1 Publication
VAR_063035
Natural varianti1936 – 19361A → T.2 Publications
Corresponds to variant rs2069562 [ dbSNP | Ensembl ].
VAR_016859
Natural varianti1974 – 19741M → T.
Corresponds to variant rs56230101 [ dbSNP | Ensembl ].
VAR_061173
Natural varianti1979 – 19791R → W Polymorphism associated with AITD3. 1 Publication
VAR_032013
Natural varianti1996 – 19961C → S in TDH3; autosomal recessive. 1 Publication
Corresponds to variant rs2076739 [ dbSNP | Ensembl ].
VAR_010219
Natural varianti1999 – 19991R → W.1 Publication
Corresponds to variant rs2076740 [ dbSNP | Ensembl ].
VAR_010220
Natural varianti2091 – 20911D → E.2 Publications
VAR_016860
Natural varianti2149 – 21491P → L.3 Publications
Corresponds to variant rs2069564 [ dbSNP | Ensembl ].
VAR_016861
Natural varianti2170 – 21701Q → R.3 Publications
Corresponds to variant rs2069565 [ dbSNP | Ensembl ].
VAR_016862
Natural varianti2234 – 22341A → D in TDH3; reduces thyroglobulin synthesis and secretion; promotes thyroglobulin retention within the endoplasmic reticulum. 2 Publications
VAR_063036
Natural varianti2242 – 22421R → H.2 Publications
Corresponds to variant rs2069566 [ dbSNP | Ensembl ].
VAR_016863
Natural varianti2336 – 23361R → Q in TDH3. 1 Publication
VAR_063037
Natural varianti2375 – 23751G → R in TDH3. 1 Publication
VAR_063038
Natural varianti2455 – 24551R → H.
Corresponds to variant rs2272707 [ dbSNP | Ensembl ].
VAR_049083
Natural varianti2469 – 24691L → P.
Corresponds to variant rs2069568 [ dbSNP | Ensembl ].
VAR_049084
Natural varianti2501 – 25011W → R.1 Publication
Corresponds to variant rs2069569 [ dbSNP | Ensembl ].
VAR_010221
Natural varianti2526 – 25261F → L.
Corresponds to variant rs12114109 [ dbSNP | Ensembl ].
VAR_049085
Natural varianti2530 – 25301R → Q.1 Publication
Corresponds to variant rs1133076 [ dbSNP | Ensembl ].
VAR_010222
Natural varianti2616 – 26161N → S.
Corresponds to variant rs10091530 [ dbSNP | Ensembl ].
VAR_049086

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1510 – 156758CVTDC…SQCLM → L in isoform 2.
VSP_012655Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti23 – 253EYQ → GKF in CAA26527. 1 Publication
Sequence conflicti848 – 8481Missing AA sequence 1 Publication
Sequence conflicti984 – 9852EQ → DR in CAA29456. 1 Publication
Sequence conflicti1359 – 13602Missing AA sequence 1 Publication
Sequence conflicti1717 – 17171L → A AA sequence 1 Publication
Sequence conflicti1776 – 17761T → S AA sequence 1 Publication
Sequence conflicti2019 – 20191G → H AA sequence 1 Publication
Sequence conflicti2287 – 22871F → P AA sequence 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X05615 mRNA. Translation: CAA29104.1.
U93033 mRNA. Translation: AAC51924.1.
AF230667 Genomic DNA. No translation available.
AF235100 Genomic DNA. No translation available.
AF230666 Genomic DNA. No translation available.
AF305872 Genomic DNA. No translation available.
X02154 mRNA. Translation: CAA26089.1.
X06059
, X06060, X06061, X06062, X06063, X06064, X06065, X06066 Genomic DNA. Translation: CAA29454.1.
X06067, X06068 Genomic DNA. Translation: CAA29455.1.
X06069, X06070 Genomic DNA. Translation: CAA29456.1.
X02749 Genomic DNA. Translation: CAA26527.1.
AH008122 Genomic DNA. Translation: AAD51647.1.
AH007064 Genomic DNA. Translation: AAC95473.1.
AF080484
, AF169654, AF169655, AF169656, AF169657, AF169658, AF169659, AF169661, AF169662, AF169663, AF169664, AF080472, AF080473, AF080474, AF080475, AF080476, AF080477, AF080478, AF080479, AF080480, AF080481, AF080482, AF080483 Genomic DNA. Translation: AAD50912.2.
S40807 mRNA. Translation: AAB22685.1.
CCDSiCCDS34944.1. [P01266-1]
PIRiA59110. UIHU.
RefSeqiNP_003226.4. NM_003235.4. [P01266-1]
UniGeneiHs.654591.

Genome annotation databases

EnsembliENST00000220616; ENSP00000220616; ENSG00000042832. [P01266-1]
ENST00000377869; ENSP00000367100; ENSG00000042832. [P01266-2]
GeneIDi7038.
KEGGihsa:7038.
UCSCiuc003ytw.3. human. [P01266-1]

Polymorphism databases

DMDMi126302607.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Thyroglobulin entry

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X05615 mRNA. Translation: CAA29104.1 .
U93033 mRNA. Translation: AAC51924.1 .
AF230667 Genomic DNA. No translation available.
AF235100 Genomic DNA. No translation available.
AF230666 Genomic DNA. No translation available.
AF305872 Genomic DNA. No translation available.
X02154 mRNA. Translation: CAA26089.1 .
X06059
, X06060 , X06061 , X06062 , X06063 , X06064 , X06065 , X06066 Genomic DNA. Translation: CAA29454.1 .
X06067 , X06068 Genomic DNA. Translation: CAA29455.1 .
X06069 , X06070 Genomic DNA. Translation: CAA29456.1 .
X02749 Genomic DNA. Translation: CAA26527.1 .
AH008122 Genomic DNA. Translation: AAD51647.1 .
AH007064 Genomic DNA. Translation: AAC95473.1 .
AF080484
, AF169654 , AF169655 , AF169656 , AF169657 , AF169658 , AF169659 , AF169661 , AF169662 , AF169663 , AF169664 , AF080472 , AF080473 , AF080474 , AF080475 , AF080476 , AF080477 , AF080478 , AF080479 , AF080480 , AF080481 , AF080482 , AF080483 Genomic DNA. Translation: AAD50912.2 .
S40807 mRNA. Translation: AAB22685.1 .
CCDSi CCDS34944.1. [P01266-1 ]
PIRi A59110. UIHU.
RefSeqi NP_003226.4. NM_003235.4. [P01266-1 ]
UniGenei Hs.654591.

3D structure databases

ProteinModelPortali P01266.
SMRi P01266. Positions 2204-2728.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112896. 3 interactions.
IntActi P01266. 2 interactions.

Protein family/group databases

MEROPSi I31.950.

PTM databases

PhosphoSitei P01266.

Polymorphism databases

DMDMi 126302607.

Proteomic databases

PaxDbi P01266.
PRIDEi P01266.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000220616 ; ENSP00000220616 ; ENSG00000042832 . [P01266-1 ]
ENST00000377869 ; ENSP00000367100 ; ENSG00000042832 . [P01266-2 ]
GeneIDi 7038.
KEGGi hsa:7038.
UCSCi uc003ytw.3. human. [P01266-1 ]

Organism-specific databases

CTDi 7038.
GeneCardsi GC08P133879.
H-InvDB HIX0034371.
HGNCi HGNC:11764. TG.
HPAi CAB000077.
CAB056155.
HPA002740.
MIMi 188450. gene.
274700. phenotype.
608175. phenotype.
neXtProti NX_P01266.
Orphaneti 95716. Familial thyroid dyshormonogenesis.
PharmGKBi PA36479.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2272.
HOVERGENi HBG017929.
InParanoidi P01266.
KOi K10809.
OMAi LRSCWCV.
OrthoDBi EOG77M8MP.
PhylomeDBi P01266.
TreeFami TF351833.

Enzyme and pathway databases

BioCyci MetaCyc:ENSG00000042832-MONOMER.

Miscellaneous databases

ChiTaRSi TG. human.
GeneWikii Thyroglobulin.
GenomeRNAii 7038.
NextBioi 27497.
PROi P01266.
SOURCEi Search...

Gene expression databases

ArrayExpressi P01266.
Bgeei P01266.
Genevestigatori P01266.

Family and domain databases

Gene3Di 3.40.50.1820. 1 hit.
4.10.800.10. 13 hits.
InterProi IPR029058. AB_hydrolase.
IPR002018. CarbesteraseB.
IPR019819. Carboxylesterase_B_CS.
IPR016324. Thyroglobulin.
IPR000716. Thyroglobulin_1.
IPR011641. Tyr-kin_ephrin_A/B_rcpt-like.
[Graphical view ]
Pfami PF00135. COesterase. 1 hit.
PF07699. GCC2_GCC3. 1 hit.
PF00086. Thyroglobulin_1. 8 hits.
[Graphical view ]
PIRSFi PIRSF001831. Thyroglobulin. 1 hit.
SMARTi SM00211. TY. 10 hits.
[Graphical view ]
SUPFAMi SSF53474. SSF53474. 1 hit.
SSF57610. SSF57610. 13 hits.
PROSITEi PS00941. CARBOXYLESTERASE_B_2. 1 hit.
PS00484. THYROGLOBULIN_1_1. 9 hits.
PS51162. THYROGLOBULIN_1_2. 11 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Primary structure of human thyroglobulin deduced from the sequence of its 8448-base complementary DNA."
    Malthiery Y., Lissitzky S.
    Eur. J. Biochem. 165:491-498(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ASP-604; ASP-653; GLN-985 DEL; TYR-1043; THR-1059; GLY-1312; ARG-1437; HIS-1463; THR-1936; GLU-2091; LEU-2149; ARG-2170 AND HIS-2242.
  2. "The revised 8307 base pair coding sequence of human thyroglobulin transiently expressed in eukaryotic cells."
    van de Graaf S.A.R., Pauws E., de Vijlder J.J.M., Ris-Stalpers C.
    Eur. J. Endocrinol. 136:508-515(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLY-1312.
    Tissue: Thyroid.
  3. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLU-515.
  4. "Sequence of the 5'-end quarter of the human-thyroglobulin messenger ribonucleic acid and of its deduced amino-acid sequence."
    Malthiery Y., Lissitzky S.
    Eur. J. Biochem. 147:53-58(1985) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-730, VARIANTS ASP-604 AND ASP-653.
  5. "Structural organization of the 5' region of the thyroglobulin gene. Evidence for intron loss and 'exonization' during evolution."
    Parma J., Christophe D., Pohl V., Vassart G.
    J. Mol. Biol. 196:769-779(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-415; 640-737 AND 880-1000, VARIANT ALA-734.
  6. "An unusually long poly(purine)-poly(pyrimidine) sequence is located upstream from the human thyroglobulin gene."
    Christophe D., Cabrer B., Bacolla A., Targovnik H.M., Pohl V., Vassart G.
    Nucleic Acids Res. 13:5127-5144(1985) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-25.
  7. "Genomic organization of the 5' region of the human thyroglobulin gene."
    Moya C.M., Mendive F.M., Rivolta C.M., Vassart G., Targovnik H.M.
    Eur. J. Endocrinol. 143:789-798(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1002-1566 (ISOFORM 1), VARIANT GLY-1312.
  8. "Genomic organization of the 3' region of the human thyroglobulin gene."
    Mendive F.M., Rivolta C.M., Vassart G., Targovnik H.M.
    Thyroid 9:903-912(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1645-2768, VARIANTS LEU-2149 AND ARG-2170.
  9. "Identification of a minor Tg mRNA transcript in RNA from normal and goitrous thyroids."
    Targovnik H.M., Cochaux P., Corach D., Vassart G.
    Mol. Cell. Endocrinol. 84:R23-R26(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1504-1602 (ISOFORM 2).
  10. "Hormone synthesis in human thyroglobulin: possible cleavage of the polypeptide chain at the tyrosine donor site."
    Marriq C., Lejeune P.J., Venot N., Vinet L.
    FEBS Lett. 242:414-418(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL PROTEIN SEQUENCE.
  11. "Preferential sites of proteolytic cleavage of bovine, human and rat thyroglobulin. The use of limited proteolysis to detect solvent-exposed regions of the primary structure."
    Gentile F., Salvatore G.
    Eur. J. Biochem. 218:603-621(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL PROTEIN SEQUENCE.
  12. "Characterization of hormonogenic sites in an N-terminal, cyanogen bromide fragment of human thyroglobulin."
    Xiao S., Pollock H.G., Taurog A., Rawitch A.B.
    Arch. Biochem. Biophys. 320:96-105(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL PROTEIN SEQUENCE.
  13. "Glycosylation in human thyroglobulin: location of the N-linked oligosaccharide units and comparison with bovine thyroglobulin."
    Yang S.X., Pollock H.G., Rawitch A.B.
    Arch. Biochem. Biophys. 327:61-70(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL PROTEIN SEQUENCE, GLYCOSYLATION AT ASN-76; ASN-198; ASN-484; ASN-529; ASN-748; ASN-816; ASN-947; ASN-1220; ASN-1348; ASN-1349; ASN-1365; ASN-1716; ASN-1774; ASN-2013; ASN-2250; ASN-2295 AND ASN-2582, ABSENCE OF GLYCOSYLATION AT ASN-110; ASN-496; ASN-1869 AND ASN-2122.
  14. "Characterization of the type-1 repeat from thyroglobulin, a cysteine-rich module found in proteins from different families."
    Molina F., Bouanani M., Pau B., Granier C.
    Eur. J. Biochem. 240:125-133(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: PRESENCE OF A 11TH TYROGLOBULIN TYPE-1 REPEAT.
  15. "Consensus sequences for early iodination and hormonogenesis in human thyroglobulin."
    Lamas L., Anderson P.C., Fox J.W., Dunn J.T.
    J. Biol. Chem. 264:13541-13545(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: IODINATION AT TYR-24; TYR-1310; TYR-2573; TYR-2587 AND TYR-2766.
  16. "Sulfated tyrosines of thyroglobulin are involved in thyroid hormone synthesis."
    Nlend M.-C., Cauvi D., Venot N., Chabaud O.
    Biochem. Biophys. Res. Commun. 262:193-197(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: SULFATION.
  17. "The hormonogenic tyrosine 5 of porcine thyroglobulin is sulfated."
    Venot N., Nlend M.-C., Cauvi D., Chabaud O.
    Biochem. Biophys. Res. Commun. 298:193-197(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SULFATION AT TYR-24.
  18. "A single chondroitin 6-sulfate oligosaccharide unit at Ser-2730 of human thyroglobulin enhances hormone formation and limits proteolytic accessibility at the carboxyl terminus. Potential insights into thyroid homeostasis and autoimmunity."
    Conte M., Arcaro A., D'Angelo D., Gnata A., Mamone G., Ferranti P., Formisano S., Gentile F.
    J. Biol. Chem. 281:22200-22211(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION AT SER-2749.
  19. "Thyroglobulin gene point mutation associated with non-endemic simple goitre."
    Corral J., Martin C., Perez R., Sanchez I., Mories M.T., San Millan J.L., Miralles J.M., Gonzalez-Sarmiento R.
    Lancet 341:462-464(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HIS-870.
  20. "Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter."
    Hishinuma A., Takamatsu J., Ohyama Y., Yokozawa T., Kanno Y., Kuma K., Yoshida S., Matsuura N., Ieiri T.
    J. Clin. Endocrinol. Metab. 84:1438-1444(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TDH3 ARG-1264 AND SER-1996, VARIANTS HIS-135; ASP-604; ASP-653; ALA-734; GLU-830; GLN-985 DEL; VAL-1028; TYR-1043; THR-1059; ARG-1437; HIS-1463; ASN-1838; THR-1936; TRP-1999; GLU-2091; LEU-2149; ARG-2170; HIS-2242; ARG-2501 AND GLN-2530.
  21. "Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease."
    Ban Y., Greenberg D.A., Concepcion E., Skrabanek L., Villanueva R., Tomer Y.
    Proc. Natl. Acad. Sci. U.S.A. 100:15119-15124(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ALA-734; VAL-1028 AND TRP-1979, INVOLVEMENT IN AITD3.
  22. "A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels."
    Kitanaka S., Takeda A., Sato U., Miki Y., Hishinuma A., Ieiri T., Igarashi T.
    J. Hum. Genet. 51:379-382(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS TDH3 TYR-1897 AND GLN-2336.
  23. Cited for: VARIANTS TDH3 TYR-183 AND ASP-2234.
  24. "Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity."
    Kanou Y., Hishinuma A., Tsunekawa K., Seki K., Mizuno Y., Fujisawa H., Imai T., Miura Y., Nagasaka T., Yamada C., Ieiri T., Murakami M., Murata Y.
    J. Clin. Endocrinol. Metab. 92:1451-1457(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TDH3 ARG-2375.
  25. "The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation."
    Pardo V., Vono-Toniolo J., Rubio I.G., Knobel M., Possato R.F., Targovnik H.M., Kopp P., Medeiros-Neto G.
    J. Clin. Endocrinol. Metab. 94:2938-2944(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TDH3 ASP-2234, CHARACTERIZATION OF VARIANT TDH3 ASP-2234.

Entry informationi

Entry nameiTHYG_HUMAN
AccessioniPrimary (citable) accession number: P01266
Secondary accession number(s): O15274
, O43899, Q15593, Q15948, Q9NYR1, Q9NYR2, Q9UMZ0, Q9UNY3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: February 20, 2007
Last modified: September 3, 2014
This is version 166 of the entry and version 5 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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