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Q06710

- PAX8_HUMAN

UniProt

Q06710 - PAX8_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
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.

Miscellaneous databases

EvolutionaryTraceiQ06710.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini9 – 135127PairedAdd
BLAST

Compositional bias

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

Sequence similaritiesi

Contains 1 paired domain.

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

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. VSP_002374Add
BLAST
Alternative sequencei260 – 450191GLYPL…AFDHL → EVNTLAMPMATPPTPPTARP GASPTPAC in isoform 5. VSP_002375Add
BLAST
Alternative sequencei300 – 450151DPHSP…AFDHL → APPFWICSKSAPGSRPSMPF PMLPPCTGSSRARPSSQGER WWGPRCPDTHPTSPPADRAA MPPLPSQAWWQEVNTLAMPM ATPPTPPTARPGASPTPAC in isoform 3. VSP_002373Add
BLAST
Alternative sequencei300 – 36263Missing in isoform 2. VSP_002372Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti305 – 3051F → L in X69699. 1 Publication
Sequence conflicti322 – 3221S → C in X69699. 1 Publication
Sequence conflicti418 – 4181R → G in X69699. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 147 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

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