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Protein

Paired box protein Pax-8

Gene

PAX8

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

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Transcription, Transcription regulation

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000125618.16
HGNCiHGNC:8622 PAX8
MIMi167415 gene
neXtProtiNX_Q06710

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs104893657EnsemblClinVar.1
Natural variantiVAR_01277040Q → P in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893656EnsemblClinVar.1
Natural variantiVAR_01277157C → Y in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893659EnsemblClinVar.1
Natural variantiVAR_01277262L → R in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893658EnsemblClinVar.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
ProteomicsDBi58470
58471 [Q06710-2]
58472 [Q06710-3]
58473 [Q06710-4]
58474 [Q06710-5]

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

HPAiCAB055097
CAB061888
HPA030062
HPA064554

Interactioni

Subunit structurei

Interacts with WWTR1.1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi113604, 9 interactors
IntActiQ06710, 23 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

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
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR001523 Paired_dom
IPR022130 Pax2_C
IPR036388 WH-like_DNA-bd_sf
PfamiView protein in Pfam
PF00292 PAX, 1 hit
PF12403 Pax2_C, 1 hit
PRINTSiPR00027 PAIREDBOX
SMARTiView protein in SMART
SM00351 PAX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00034 PAIRED_1, 1 hit
PS51057 PAIRED_2, 1 hit

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 dbSNP:rs104893657EnsemblClinVar.1
Natural variantiVAR_01277040Q → P in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893656EnsemblClinVar.1
Natural variantiVAR_01277157C → Y in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893659EnsemblClinVar.1
Natural variantiVAR_01277262L → R in CHNG2; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104893658EnsemblClinVar.1
Natural variantiVAR_012773329F → L1 PublicationCorresponds to variant dbSNP:rs3188996EnsemblClinVar.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

Similar proteinsi

Entry informationi

Entry nameiPAX8_HUMAN
AccessioniPrimary (citable) accession number: Q06710
Secondary accession number(s): Q09155
, Q16337, Q16338, Q16339, Q4ZG35, Q96J49
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: November 25, 2008
Last modified: June 20, 2018
This is version 177 of the entry and version 2 of the sequence. See 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

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