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Q06710

- PAX8_HUMAN

UniProt

Q06710 - PAX8_HUMAN

Protein

Paired box protein Pax-8

Gene

PAX8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 148 (01 Oct 2014)
      Sequence version 2 (25 Nov 2008)
      Previous versions | rss
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    Functioni

    Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB
    2. protein binding Source: UniProtKB
    3. RNA polymerase II core promoter sequence-specific DNA binding Source: UniProtKB
    4. sequence-specific DNA binding transcription factor activity Source: UniProtKB
    5. thyroid-stimulating hormone receptor activity Source: ProtInc
    6. transcription regulatory region DNA binding Source: UniProtKB

    GO - Biological processi

    1. anatomical structure morphogenesis Source: ProtInc
    2. branching involved in ureteric bud morphogenesis Source: UniProtKB
    3. cellular response to gonadotropin stimulus Source: UniProtKB
    4. central nervous system development Source: UniProtKB
    5. inner ear morphogenesis Source: UniProtKB
    6. kidney development Source: UniProtKB
    7. mesenchymal to epithelial transition involved in metanephros morphogenesis Source: UniProtKB
    8. mesonephric tubule development Source: Ensembl
    9. mesonephros development Source: UniProtKB
    10. metanephric comma-shaped body morphogenesis Source: UniProtKB
    11. metanephric distal convoluted tubule development Source: UniProtKB
    12. metanephric epithelium development Source: UniProtKB
    13. metanephric nephron tubule formation Source: UniProtKB
    14. metanephric S-shaped body morphogenesis Source: UniProtKB
    15. negative regulation of apoptotic process involved in metanephric collecting duct development Source: UniProtKB
    16. negative regulation of apoptotic process involved in metanephric nephron tubule development Source: UniProtKB
    17. negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis Source: UniProtKB
    18. negative regulation of mesenchymal cell apoptotic process involved in metanephros development Source: UniProtKB
    19. otic vesicle development Source: UniProtKB
    20. positive regulation of branching involved in ureteric bud morphogenesis Source: UniProtKB
    21. positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis Source: UniProtKB
    22. positive regulation of metanephric DCT cell differentiation Source: UniProtKB
    23. positive regulation of thyroid hormone generation Source: UniProtKB
    24. positive regulation of transcription, DNA-templated Source: UniProtKB
    25. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    26. pronephric field specification Source: UniProtKB
    27. pronephros development Source: UniProtKB
    28. regulation of apoptotic process Source: UniProtKB
    29. regulation of metanephric nephron tubule epithelial cell differentiation Source: UniProtKB
    30. regulation of thyroid-stimulating hormone secretion Source: UniProtKB
    31. thyroid gland development Source: UniProtKB
    32. thyroid-stimulating hormone signaling pathway Source: GOC
    33. transcription, DNA-templated Source: UniProtKB
    34. urogenital system development Source: UniProtKB

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Paired box protein Pax-8
    Gene namesi
    Name:PAX8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:8622. PAX8.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleoplasm Source: UniProtKB
    2. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700]: A disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti31 – 311R → H in CHNG2; loss of activity. 1 Publication
    VAR_012769
    Natural varianti40 – 401Q → P in CHNG2; loss of activity. 1 Publication
    VAR_012770
    Natural varianti57 – 571C → Y in CHNG2; loss of activity. 1 Publication
    VAR_012771
    Natural varianti62 – 621L → R in CHNG2; loss of activity. 1 Publication
    VAR_012772

    Keywords - Diseasei

    Congenital hypothyroidism, Disease mutation

    Organism-specific databases

    MIMi218700. phenotype.
    Orphaneti95713. Athyreosis.
    95720. Thyroid hypoplasia.
    PharmGKBiPA32962.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 450450Paired box protein Pax-8PRO_0000050197Add
    BLAST

    Proteomic databases

    PaxDbiQ06710.
    PRIDEiQ06710.

    PTM databases

    PhosphoSiteiQ06710.

    Expressioni

    Tissue specificityi

    Expressed in the excretory system, thyroid gland and Wilms tumors.

    Developmental stagei

    In developing excretory system, during thyroid differentiation and in adult thyroid.

    Gene expression databases

    ArrayExpressiQ06710.
    BgeeiQ06710.
    CleanExiHS_PAX8.
    GenevestigatoriQ06710.

    Organism-specific databases

    HPAiHPA030062.

    Interactioni

    Subunit structurei

    Interacts with WWTR1.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    NCLP193382EBI-2683132,EBI-346967
    SERINC1Q9NRX52EBI-2683132,EBI-2683145

    Protein-protein interaction databases

    BioGridi113604. 7 interactions.
    IntActiQ06710. 13 interactions.
    STRINGi9606.ENSP00000395498.

    Structurei

    Secondary structure

    1
    450
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi21 – 233
    Helixi28 – 4013
    Helixi44 – 518
    Helixi56 – 627
    Helixi88 – 9811
    Beta strandi100 – 1023
    Helixi104 – 11411
    Turni119 – 1213
    Helixi125 – 13511

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2K27NMR-A1-143[»]
    ProteinModelPortaliQ06710.
    SMRiQ06710. Positions 1-146.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ06710.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini9 – 135127PairedPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi315 – 32713Ser-richAdd
    BLAST

    Sequence similaritiesi

    Contains 1 paired domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Paired box

    Phylogenomic databases

    eggNOGiNOG326044.
    HOVERGENiHBG009115.
    InParanoidiQ06710.
    KOiK09293.
    OMAiDTFSQHH.
    OrthoDBiEOG7WT431.
    PhylomeDBiQ06710.
    TreeFamiTF315397.

    Family and domain databases

    Gene3Di1.10.10.10. 2 hits.
    InterProiIPR009057. Homeodomain-like.
    IPR001523. Paired_dom.
    IPR022130. Pax2_C.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view]
    PfamiPF00292. PAX. 1 hit.
    PF12403. Pax2_C. 1 hit.
    [Graphical view]
    PRINTSiPR00027. PAIREDBOX.
    SMARTiSM00351. PAX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00034. PAIRED_1. 1 hit.
    PS51057. PAIRED_2. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q06710-1) [UniParc]FASTAAdd to Basket

    Also known as: Pax8a

    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

    MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ GVRPCDISRQ    50
    LRVSHGCVSK ILGRYYETGS IRPGVIGGSK PKVATPKVVE KIGDYKRQNP 100
    TMFAWEIRDR LLAEGVCDND TVPSVSSINR IIRTKVQQPF NLPMDSCVAT 150
    KSLSPGHTLI PSSAVTPPES PQSDSLGSTY SINGLLGIAQ PGSDKRKMDD 200
    SDQDSCRLSI DSQSSSSGPR KHLRTDAFSQ HHLEPLECPF ERQHYPEAYA 250
    SPSHTKGEQG LYPLPLLNST LDDGKATLTP SNTPLGRNLS THQTYPVVAD 300
    PHSPFAIKQE TPEVSSSSST PSSLSSSAFL DLQQVGSGVP PFNAFPHAAS 350
    VYGQFTGQAL LSGREMVGPT LPGYPPHIPT SGQGSYASSA IAGMVAGSEY 400
    SGNAYGHTPY SSYSEAWRFP NSSLLSSPYY YSSTSRPSAP PTTATAFDHL 450
    Length:450
    Mass (Da):48,218
    Last modified:November 25, 2008 - v2
    Checksum:i7FDAFA8CEAF20A0E
    GO
    Isoform 2 (identifier: Q06710-2) [UniParc]FASTAAdd to Basket

    Also known as: Pax8b

    The sequence of this isoform differs from the canonical sequence as follows:
         300-362: Missing.

    Show »
    Length:387
    Mass (Da):41,741
    Checksum:i8618767656E83C39
    GO
    Isoform 3 (identifier: Q06710-3) [UniParc]FASTAAdd to Basket

    Also known as: Pax8c

    The sequence of this isoform differs from the canonical sequence as follows:
         300-450: DPHSPFAIKQ...PTTATAFDHL → APPFWICSKS...RPGASPTPAC

    Show »
    Length:398
    Mass (Da):43,028
    Checksum:iB8A48B2C8916723C
    GO
    Isoform 4 (identifier: Q06710-4) [UniParc]FASTAAdd to Basket

    Also known as: Pax8d

    The sequence of this isoform differs from the canonical sequence as follows:
         260-450: GLYPLPLLNS...PTTATAFDHL → GERWWGPRCP...RPGASPTPAC

    Show »
    Length:321
    Mass (Da):34,909
    Checksum:iDE1BC715C6C75532
    GO
    Isoform 5 (identifier: Q06710-5) [UniParc]FASTAAdd to Basket

    Also known as: Pax8e

    The sequence of this isoform differs from the canonical sequence as follows:
         260-450: GLYPLPLLNS...PTTATAFDHL → EVNTLAMPMATPPTPPTARPGASPTPAC

    Show »
    Length:287
    Mass (Da):31,044
    Checksum:i418320AD43B1237E
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti305 – 3051F → L in X69699. (PubMed:1337742)Curated
    Sequence conflicti322 – 3221S → C in X69699. (PubMed:1337742)Curated
    Sequence conflicti418 – 4181R → G in X69699. (PubMed:1337742)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti31 – 311R → H in CHNG2; loss of activity. 1 Publication
    VAR_012769
    Natural varianti40 – 401Q → P in CHNG2; loss of activity. 1 Publication
    VAR_012770
    Natural varianti57 – 571C → Y in CHNG2; loss of activity. 1 Publication
    VAR_012771
    Natural varianti62 – 621L → R in CHNG2; loss of activity. 1 Publication
    VAR_012772
    Natural varianti329 – 3291F → L.1 Publication
    Corresponds to variant rs3188996 [ dbSNP | Ensembl ].
    VAR_012773

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei260 – 450191GLYPL…AFDHL → GERWWGPRCPDTHPTSPPAD RAAMPPLPSQAWWQEVNTLA MPMATPPTPPTARPGASPTP AC in isoform 4. 1 PublicationVSP_002374Add
    BLAST
    Alternative sequencei260 – 450191GLYPL…AFDHL → EVNTLAMPMATPPTPPTARP GASPTPAC in isoform 5. 1 PublicationVSP_002375Add
    BLAST
    Alternative sequencei300 – 450151DPHSP…AFDHL → APPFWICSKSAPGSRPSMPF PMLPPCTGSSRARPSSQGER WWGPRCPDTHPTSPPADRAA MPPLPSQAWWQEVNTLAMPM ATPPTPPTARPGASPTPAC in isoform 3. 1 PublicationVSP_002373Add
    BLAST
    Alternative sequencei300 – 36263Missing in isoform 2. 1 PublicationVSP_002372Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X69699 mRNA. No translation available.
    L19606 mRNA. Translation: AAA03539.1.
    S77904 mRNA. Translation: AAB34216.1.
    S77905 mRNA. Translation: AAB34217.2.
    S77906 mRNA. Translation: AAB34218.2.
    AK292191 mRNA. Translation: BAF84880.1.
    AC016683 Genomic DNA. Translation: AAX88880.1.
    CH471217 Genomic DNA. Translation: EAW73629.1.
    BC001060 mRNA. Translation: AAH01060.1.
    CCDSiCCDS42735.1. [Q06710-5]
    CCDS42736.1. [Q06710-4]
    CCDS46398.1. [Q06710-1]
    CCDS46399.1. [Q06710-3]
    PIRiA54429.
    I53340.
    RefSeqiNP_003457.1. NM_003466.3. [Q06710-1]
    NP_039246.1. NM_013952.3. [Q06710-3]
    NP_039247.1. NM_013953.3. [Q06710-4]
    NP_054698.1. NM_013992.3. [Q06710-5]
    UniGeneiHs.469728.

    Genome annotation databases

    EnsembliENST00000263334; ENSP00000263334; ENSG00000125618. [Q06710-3]
    ENST00000263335; ENSP00000263335; ENSG00000125618. [Q06710-4]
    ENST00000348715; ENSP00000314750; ENSG00000125618. [Q06710-3]
    ENST00000397647; ENSP00000380768; ENSG00000125618. [Q06710-5]
    ENST00000429538; ENSP00000395498; ENSG00000125618. [Q06710-1]
    GeneIDi7849.
    KEGGihsa:7849.
    UCSCiuc002tjm.3. human. [Q06710-4]
    uc002tjn.3. human. [Q06710-5]
    uc010fku.1. human. [Q06710-1]
    uc010yxu.2. human. [Q06710-3]

    Polymorphism databases

    DMDMi215273928.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X69699 mRNA. No translation available.
    L19606 mRNA. Translation: AAA03539.1 .
    S77904 mRNA. Translation: AAB34216.1 .
    S77905 mRNA. Translation: AAB34217.2 .
    S77906 mRNA. Translation: AAB34218.2 .
    AK292191 mRNA. Translation: BAF84880.1 .
    AC016683 Genomic DNA. Translation: AAX88880.1 .
    CH471217 Genomic DNA. Translation: EAW73629.1 .
    BC001060 mRNA. Translation: AAH01060.1 .
    CCDSi CCDS42735.1. [Q06710-5 ]
    CCDS42736.1. [Q06710-4 ]
    CCDS46398.1. [Q06710-1 ]
    CCDS46399.1. [Q06710-3 ]
    PIRi A54429.
    I53340.
    RefSeqi NP_003457.1. NM_003466.3. [Q06710-1 ]
    NP_039246.1. NM_013952.3. [Q06710-3 ]
    NP_039247.1. NM_013953.3. [Q06710-4 ]
    NP_054698.1. NM_013992.3. [Q06710-5 ]
    UniGenei Hs.469728.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2K27 NMR - A 1-143 [» ]
    ProteinModelPortali Q06710.
    SMRi Q06710. Positions 1-146.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113604. 7 interactions.
    IntActi Q06710. 13 interactions.
    STRINGi 9606.ENSP00000395498.

    Chemistry

    ChEMBLi CHEMBL2362980.

    PTM databases

    PhosphoSitei Q06710.

    Polymorphism databases

    DMDMi 215273928.

    Proteomic databases

    PaxDbi Q06710.
    PRIDEi Q06710.

    Protocols and materials databases

    DNASUi 7849.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000263334 ; ENSP00000263334 ; ENSG00000125618 . [Q06710-3 ]
    ENST00000263335 ; ENSP00000263335 ; ENSG00000125618 . [Q06710-4 ]
    ENST00000348715 ; ENSP00000314750 ; ENSG00000125618 . [Q06710-3 ]
    ENST00000397647 ; ENSP00000380768 ; ENSG00000125618 . [Q06710-5 ]
    ENST00000429538 ; ENSP00000395498 ; ENSG00000125618 . [Q06710-1 ]
    GeneIDi 7849.
    KEGGi hsa:7849.
    UCSCi uc002tjm.3. human. [Q06710-4 ]
    uc002tjn.3. human. [Q06710-5 ]
    uc010fku.1. human. [Q06710-1 ]
    uc010yxu.2. human. [Q06710-3 ]

    Organism-specific databases

    CTDi 7849.
    GeneCardsi GC02M113973.
    HGNCi HGNC:8622. PAX8.
    HPAi HPA030062.
    MIMi 167415. gene.
    218700. phenotype.
    neXtProti NX_Q06710.
    Orphaneti 95713. Athyreosis.
    95720. Thyroid hypoplasia.
    PharmGKBi PA32962.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG326044.
    HOVERGENi HBG009115.
    InParanoidi Q06710.
    KOi K09293.
    OMAi DTFSQHH.
    OrthoDBi EOG7WT431.
    PhylomeDBi Q06710.
    TreeFami TF315397.

    Miscellaneous databases

    ChiTaRSi PAX8. human.
    EvolutionaryTracei Q06710.
    GeneWikii PAX8.
    GenomeRNAii 7849.
    NextBioi 30264.
    PROi Q06710.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q06710.
    Bgeei Q06710.
    CleanExi HS_PAX8.
    Genevestigatori Q06710.

    Family and domain databases

    Gene3Di 1.10.10.10. 2 hits.
    InterProi IPR009057. Homeodomain-like.
    IPR001523. Paired_dom.
    IPR022130. Pax2_C.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view ]
    Pfami PF00292. PAX. 1 hit.
    PF12403. Pax2_C. 1 hit.
    [Graphical view ]
    PRINTSi PR00027. PAIREDBOX.
    SMARTi SM00351. PAX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00034. PAIRED_1. 1 hit.
    PS51057. PAIRED_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors."
      Poleev A., Fickenscher H., Mundlos S., Winterpacht A., Zabel B., Fidler A., Gruss P., Plachov D.
      Development 116:611-623(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT LEU-329.
      Tissue: Kidney.
    2. "Alternative splicing of Pax-8 gene transcripts is developmentally regulated and generates isoforms with different transactivation properties."
      Kozmik Z., Kurzbauer R., Doerfler P., Busslinger M.
      Mol. Cell. Biol. 13:6024-6035(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING.
      Tissue: Kidney.
    3. "Distinct functional properties of three human paired-box-protein, PAX8, isoforms generated by alternative splicing in thyroid, kidney and Wilms' tumors."
      Poleev A., Wendler F., Fickenscher H., Zannini M.S., Yaginuma K., Abbott C., Plachov D.
      Eur. J. Biochem. 228:899-911(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 3; 4 AND 5).
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Cervix.
    5. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Kidney.
    8. "TAZ is a coactivator for Pax8 and TTF-1, two transcription factors involved in thyroid differentiation."
      Di Palma T., D'Andrea B., Liguori G.L., Liguoro A., de Cristofaro T., Del Prete D., Pappalardo A., Mascia A., Zannini M.
      Exp. Cell Res. 315:162-175(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH WWTR1.
    9. Cited for: VARIANTS CHNG2 HIS-31 AND ARG-62.
    10. "Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8."
      Vilain C., Rydlewski C., Duprez L., Heinrichs C., Abramowicz M., Malvaux P., Renneboog B., Parma J., Costagliola S., Vassart G.
      J. Clin. Endocrinol. Metab. 86:234-238(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CHNG2 TYR-57.
    11. "A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child."
      Congdon T., Nguyen L.Q., Nogueira C.R., Habiby R.L., Medeiros-Neto G., Kopp P.
      J. Clin. Endocrinol. Metab. 86:3962-3967(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CHNG2 PRO-40.

    Entry informationi

    Entry nameiPAX8_HUMAN
    AccessioniPrimary (citable) accession number: Q06710
    Secondary accession number(s): Q09155
    , Q16337, Q16338, Q16339, Q4ZG35, Q96J49
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: November 25, 2008
    Last modified: October 1, 2014
    This is version 148 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3