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Protein

Paired box protein Pax-8

Gene

PAX8

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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000125618-MONOMER.
SIGNORiQ06710.

Names & Taxonomyi

Protein namesi
Recommended name:
Paired box protein Pax-8
Gene namesi
Name:PAX8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:8622. PAX8.

Subcellular locationi

GO - Cellular componenti

  • nucleoplasm Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Hypothyroidism, congenital, non-goitrous, 2 (CHNG2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:218700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01276931R → H in CHNG2; loss of activity. 1 PublicationCorresponds to variant rs104893657dbSNPEnsembl.1
Natural variantiVAR_01277040Q → P in CHNG2; loss of activity. 1 PublicationCorresponds to variant rs104893656dbSNPEnsembl.1
Natural variantiVAR_01277157C → Y in CHNG2; loss of activity. 1 PublicationCorresponds to variant rs104893659dbSNPEnsembl.1
Natural variantiVAR_01277262L → R in CHNG2; loss of activity. 1 PublicationCorresponds to variant rs104893658dbSNPEnsembl.1

Keywords - Diseasei

Congenital hypothyroidism, Disease mutation

Organism-specific databases

DisGeNETi7849.
MalaCardsiPAX8.
MIMi218700. phenotype.
OpenTargetsiENSG00000125618.
Orphaneti95713. Athyreosis.
95720. Thyroid hypoplasia.
PharmGKBiPA32962.

Chemistry databases

ChEMBLiCHEMBL2362980.

Polymorphism and mutation databases

BioMutaiPAX8.
DMDMi215273928.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000501971 – 450Paired box protein Pax-8Add BLAST450

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei303PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ06710.
PeptideAtlasiQ06710.
PRIDEiQ06710.

PTM databases

iPTMnetiQ06710.
PhosphoSitePlusiQ06710.

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

BgeeiENSG00000125618.
CleanExiHS_PAX8.
ExpressionAtlasiQ06710. baseline and differential.
GenevisibleiQ06710. HS.

Organism-specific databases

HPAiHPA030062.
HPA064554.

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. 9 interactors.
IntActiQ06710. 18 interactors.
STRINGi9606.ENSP00000395498.

Structurei

Secondary structure

1450
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi21 – 23Combined sources3
Helixi28 – 40Combined sources13
Helixi44 – 51Combined sources8
Helixi56 – 62Combined sources7
Helixi88 – 98Combined sources11
Beta strandi100 – 102Combined sources3
Helixi104 – 114Combined sources11
Turni119 – 121Combined sources3
Helixi125 – 135Combined sources11

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2K27NMR-A1-143[»]
ProteinModelPortaliQ06710.
SMRiQ06710.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ06710.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini9 – 135PairedPROSITE-ProRule annotationAdd BLAST127

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi315 – 327Ser-richAdd BLAST13

Sequence similaritiesi

Contains 1 paired domain.PROSITE-ProRule annotation

Keywords - Domaini

Paired box

Phylogenomic databases

eggNOGiKOG3862. Eukaryota.
ENOG410ZT0S. LUCA.
GeneTreeiENSGT00680000099553.
HOVERGENiHBG009115.
InParanoidiQ06710.
KOiK09293.
OMAiDTFSQHH.
OrthoDBiEOG091G0S4E.
PhylomeDBiQ06710.
TreeFamiTF315397.

Family and domain databases

CDDicd00131. PAX. 1 hit.
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. AlignAdd to basket

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

        10         20         30         40         50
MPHNSIRSGH GGLNQLGGAF VNGRPLPEVV RQRIVDLAHQ GVRPCDISRQ
60 70 80 90 100
LRVSHGCVSK ILGRYYETGS IRPGVIGGSK PKVATPKVVE KIGDYKRQNP
110 120 130 140 150
TMFAWEIRDR LLAEGVCDND TVPSVSSINR IIRTKVQQPF NLPMDSCVAT
160 170 180 190 200
KSLSPGHTLI PSSAVTPPES PQSDSLGSTY SINGLLGIAQ PGSDKRKMDD
210 220 230 240 250
SDQDSCRLSI DSQSSSSGPR KHLRTDAFSQ HHLEPLECPF ERQHYPEAYA
260 270 280 290 300
SPSHTKGEQG LYPLPLLNST LDDGKATLTP SNTPLGRNLS THQTYPVVAD
310 320 330 340 350
PHSPFAIKQE TPEVSSSSST PSSLSSSAFL DLQQVGSGVP PFNAFPHAAS
360 370 380 390 400
VYGQFTGQAL LSGREMVGPT LPGYPPHIPT SGQGSYASSA IAGMVAGSEY
410 420 430 440 450
SGNAYGHTPY SSYSEAWRFP NSSLLSSPYY YSSTSRPSAP PTTATAFDHL
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)DescriptionActionsGraphical viewLength
Sequence conflicti305F → L in X69699 (PubMed:1337742).Curated1
Sequence conflicti322S → C in X69699 (PubMed:1337742).Curated1
Sequence conflicti418R → G in X69699 (PubMed:1337742).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01276931R → H in CHNG2; loss of activity. 1 PublicationCorresponds to variant rs104893657dbSNPEnsembl.1
Natural variantiVAR_01277040Q → P in CHNG2; loss of activity. 1 PublicationCorresponds to variant rs104893656dbSNPEnsembl.1
Natural variantiVAR_01277157C → Y in CHNG2; loss of activity. 1 PublicationCorresponds to variant rs104893659dbSNPEnsembl.1
Natural variantiVAR_01277262L → R in CHNG2; loss of activity. 1 PublicationCorresponds to variant rs104893658dbSNPEnsembl.1
Natural variantiVAR_012773329F → L.1 PublicationCorresponds to variant rs3188996dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_002374260 – 450GLYPL…AFDHL → GERWWGPRCPDTHPTSPPAD RAAMPPLPSQAWWQEVNTLA MPMATPPTPPTARPGASPTP AC in isoform 4. 1 PublicationAdd BLAST191
Alternative sequenceiVSP_002375260 – 450GLYPL…AFDHL → EVNTLAMPMATPPTPPTARP GASPTPAC in isoform 5. 1 PublicationAdd BLAST191
Alternative sequenceiVSP_002373300 – 450DPHSP…AFDHL → APPFWICSKSAPGSRPSMPF PMLPPCTGSSRARPSSQGER WWGPRCPDTHPTSPPADRAA MPPLPSQAWWQEVNTLAMPM ATPPTPPTARPGASPTPAC in isoform 3. 1 PublicationAdd BLAST151
Alternative sequenceiVSP_002372300 – 362Missing in isoform 2. 1 PublicationAdd BLAST63

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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. [Q06710-1]
ENST00000263335; ENSP00000263335; ENSG00000125618. [Q06710-4]
ENST00000348715; ENSP00000314750; ENSG00000125618. [Q06710-3]
ENST00000397647; ENSP00000380768; ENSG00000125618. [Q06710-5]
ENST00000429538; ENSP00000395498; ENSG00000125618. [Q06710-1]
GeneIDi7849.
KEGGihsa:7849.
UCSCiuc002tjm.4. human. [Q06710-1]

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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2K27NMR-A1-143[»]
ProteinModelPortaliQ06710.
SMRiQ06710.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113604. 9 interactors.
IntActiQ06710. 18 interactors.
STRINGi9606.ENSP00000395498.

Chemistry databases

ChEMBLiCHEMBL2362980.

PTM databases

iPTMnetiQ06710.
PhosphoSitePlusiQ06710.

Polymorphism and mutation databases

BioMutaiPAX8.
DMDMi215273928.

Proteomic databases

PaxDbiQ06710.
PeptideAtlasiQ06710.
PRIDEiQ06710.

Protocols and materials databases

DNASUi7849.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi7849.
DisGeNETi7849.
GeneCardsiPAX8.
HGNCiHGNC:8622. PAX8.
HPAiHPA030062.
HPA064554.
MalaCardsiPAX8.
MIMi167415. gene.
218700. phenotype.
neXtProtiNX_Q06710.
OpenTargetsiENSG00000125618.
Orphaneti95713. Athyreosis.
95720. Thyroid hypoplasia.
PharmGKBiPA32962.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3862. Eukaryota.
ENOG410ZT0S. LUCA.
GeneTreeiENSGT00680000099553.
HOVERGENiHBG009115.
InParanoidiQ06710.
KOiK09293.
OMAiDTFSQHH.
OrthoDBiEOG091G0S4E.
PhylomeDBiQ06710.
TreeFamiTF315397.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000125618-MONOMER.
SIGNORiQ06710.

Miscellaneous databases

ChiTaRSiPAX8. human.
EvolutionaryTraceiQ06710.
GeneWikiiPAX8.
GenomeRNAii7849.
PROiQ06710.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125618.
CleanExiHS_PAX8.
ExpressionAtlasiQ06710. baseline and differential.
GenevisibleiQ06710. HS.

Family and domain databases

CDDicd00131. PAX. 1 hit.
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]
ProtoNetiSearch...

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: November 30, 2016
This is version 166 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.