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P01266

- THYG_HUMAN

UniProt

P01266 - THYG_HUMAN

Protein

Thyroglobulin

Gene

TG

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 167 (01 Oct 2014)
      Sequence version 5 (20 Feb 2007)
      Previous versions | rss
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    Functioni

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

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei110 – 1101Not glycosylated (PubMed:8615697)1 Publication
    Sitei496 – 4961Not glycosylated (PubMed:8615697)1 Publication
    Sitei1869 – 18691Not glycosylated (PubMed:8615697)1 Publication
    Sitei2122 – 21221Not glycosylated (PubMed:8615697)1 Publication

    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

    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

    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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    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 – 1919Add
    BLAST
    Chaini20 – 27682749ThyroglobulinPRO_0000008636Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei24 – 241Sulfotyrosine; alternateBy similarity
    Modified residuei24 – 241Thyroxine; alternate
    Disulfide bondi34 ↔ 52PROSITE-ProRule annotation
    Disulfide bondi63 ↔ 70PROSITE-ProRule annotation
    Disulfide bondi72 ↔ 92PROSITE-ProRule annotation
    Glycosylationi76 – 761N-linked (GlcNAc...)1 Publication
    Disulfide bondi96 ↔ 120PROSITE-ProRule annotation
    Disulfide bondi131 ↔ 138PROSITE-ProRule annotation
    Disulfide bondi140 ↔ 160PROSITE-ProRule annotation
    Disulfide bondi164 ↔ 183PROSITE-ProRule annotation
    Disulfide bondi194 ↔ 235PROSITE-ProRule annotation
    Glycosylationi198 – 1981N-linked (GlcNAc...)1 Publication
    Disulfide bondi301 ↔ 319PROSITE-ProRule annotation
    Disulfide bondi330 ↔ 336PROSITE-ProRule annotation
    Disulfide bondi338 ↔ 358PROSITE-ProRule annotation
    Glycosylationi484 – 4841N-linked (GlcNAc...)1 Publication
    Glycosylationi529 – 5291N-linked (GlcNAc...)1 Publication
    Disulfide bondi608 ↔ 620PROSITE-ProRule annotation
    Disulfide bondi631 ↔ 636PROSITE-ProRule annotation
    Disulfide bondi638 ↔ 658PROSITE-ProRule annotation
    Disulfide bondi662 ↔ 687PROSITE-ProRule annotation
    Disulfide bondi698 ↔ 703PROSITE-ProRule annotation
    Disulfide bondi705 ↔ 726PROSITE-ProRule annotation
    Disulfide bondi730 ↔ 763PROSITE-ProRule annotation
    Glycosylationi748 – 7481N-linked (GlcNAc...)1 Publication
    Disulfide bondi774 ↔ 898PROSITE-ProRule annotation
    Glycosylationi816 – 8161N-linked (GlcNAc...)1 Publication
    Disulfide bondi900 ↔ 921PROSITE-ProRule annotation
    Glycosylationi947 – 9471N-linked (GlcNAc...)1 Publication
    Disulfide bondi1042 ↔ 1049PROSITE-ProRule annotation
    Disulfide bondi1051 ↔ 1073PROSITE-ProRule annotation
    Disulfide bondi1077 ↔ 1108PROSITE-ProRule annotation
    Disulfide bondi1126 ↔ 1145PROSITE-ProRule annotation
    Disulfide bondi1149 ↔ 1169PROSITE-ProRule annotation
    Disulfide bondi1181 ↔ 1188PROSITE-ProRule annotation
    Disulfide bondi1190 ↔ 1210PROSITE-ProRule annotation
    Glycosylationi1220 – 12201N-linked (GlcNAc...)1 Publication
    Modified residuei1310 – 13101Thyroxine
    Glycosylationi1348 – 13481N-linked (GlcNAc...)1 Publication
    Glycosylationi1349 – 13491N-linked (GlcNAc...)1 Publication
    Glycosylationi1365 – 13651N-linked (GlcNAc...)1 Publication
    Disulfide bondi1514 ↔ 1523PROSITE-ProRule annotation
    Disulfide bondi1543 ↔ 1565PROSITE-ProRule annotation
    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 ↔ 2281PROSITE-ProRule annotation
    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.2 Publications

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini31 – 9262Thyroglobulin type-1 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini93 – 16068Thyroglobulin type-1 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini161 – 297137Thyroglobulin type-1 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini298 – 35861Thyroglobulin type-1 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini605 – 65854Thyroglobulin type-1 5PROSITE-ProRule annotationAdd
    BLAST
    Domaini659 – 72668Thyroglobulin type-1 6PROSITE-ProRule annotationAdd
    BLAST
    Domaini727 – 921195Thyroglobulin type-1 7PROSITE-ProRule annotationAdd
    BLAST
    Domaini922 – 1073152Thyroglobulin type-1 8PROSITE-ProRule annotationAdd
    BLAST
    Domaini1074 – 114572Thyroglobulin type-1 9PROSITE-ProRule annotationAdd
    BLAST
    Domaini1146 – 121065Thyroglobulin type-1 10PROSITE-ProRule annotationAdd
    BLAST
    Repeati1456 – 146914Type II1 PublicationAdd
    BLAST
    Repeati1470 – 148617Type II1 PublicationAdd
    BLAST
    Repeati1487 – 150317Type II1 PublicationAdd
    BLAST
    Domaini1511 – 156555Thyroglobulin type-1 11PROSITE-ProRule annotationAdd
    BLAST
    Repeati1603 – 1723121Type IIIA1 PublicationAdd
    BLAST
    Repeati1724 – 1892169Type IIIB1 PublicationAdd
    BLAST
    Repeati1893 – 1995103Type IIIA1 PublicationAdd
    BLAST
    Repeati1996 – 2129134Type IIIB1 PublicationAdd
    BLAST
    Repeati2130 – 218758Type IIIA1 PublicationAdd
    BLAST

    Sequence similaritiesi

    Contains 11 thyroglobulin type-1 domains.PROSITE-ProRule annotation

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti23 – 253EYQ → GKF in CAA26527. (PubMed:2991855)Curated
    Sequence conflicti848 – 8481Missing AA sequence (PubMed:8615697)Curated
    Sequence conflicti984 – 9852EQ → DR in CAA29456. (PubMed:3681978)Curated
    Sequence conflicti1359 – 13602Missing AA sequence (PubMed:8615697)Curated
    Sequence conflicti1717 – 17171L → A AA sequence (PubMed:8615697)Curated
    Sequence conflicti1776 – 17761T → S AA sequence (PubMed:8615697)Curated
    Sequence conflicti2019 – 20191G → H AA sequence (PubMed:8615697)Curated
    Sequence conflicti2287 – 22871F → P AA sequence (PubMed:8615697)Curated

    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. 1 PublicationVSP_012655Add
    BLAST

    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]
    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 ]
    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

    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: October 1, 2014
    This is version 167 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