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Protein

Paired box protein Pax-1

Gene

PAX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiP15863

Names & Taxonomyi

Protein namesi
Recommended name:
Paired box protein Pax-1
Alternative name(s):
HuP48
Gene namesi
Name:PAX1
Synonyms:HUP48
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000125813.13
HGNCiHGNC:8615 PAX1
MIMi167411 gene
neXtProtiNX_P15863

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

Otofaciocervical syndrome 2 (OTFCS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability.
See also OMIM:615560
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070922166G → V in OTFCS2; significantly reduced transactivation of the regulatory sequence of NKX3-2 in cells over-expressing the mutant sequence compared to cells over-expressing wild-type sequence. 1 PublicationCorresponds to variant dbSNP:rs540296842EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi5075
MalaCardsiPAX1
MIMi615560 phenotype
OpenTargetsiENSG00000125813
Orphaneti2792 Otofaciocervical syndrome
PharmGKBiPA32955

Polymorphism and mutation databases

BioMutaiPAX1
DMDMi296439493

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000501721 – 534Paired box protein Pax-1Add BLAST534

Proteomic databases

PaxDbiP15863
PeptideAtlasiP15863
PRIDEiP15863
ProteomicsDBi53230
53231 [P15863-2]
53232 [P15863-3]

PTM databases

iPTMnetiP15863
PhosphoSitePlusiP15863

Expressioni

Gene expression databases

BgeeiENSG00000125813 Expressed in 47 organ(s), highest expression level in tonsil
CleanExiHS_PAX1
ExpressionAtlasiP15863 baseline and differential
GenevisibleiP15863 HS

Interactioni

Protein-protein interaction databases

BioGridi111109, 2 interactors
MINTiP15863
STRINGi9606.ENSP00000381499

Structurei

3D structure databases

ProteinModelPortaliP15863
SMRiP15863
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini98 – 224PairedPROSITE-ProRule annotationAdd BLAST127

Keywords - Domaini

Paired box

Phylogenomic databases

eggNOGiKOG3517 Eukaryota
ENOG4111FI9 LUCA
GeneTreeiENSGT00680000099553
HOGENOMiHOG000230938
HOVERGENiHBG009115
InParanoidiP15863
KOiK09382
OMAiKMGSHHG
OrthoDBiEOG091G0S4E
PhylomeDBiP15863
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
IPR033206 PAX1
IPR036388 WH-like_DNA-bd_sf
PANTHERiPTHR24329:SF262 PTHR24329:SF262, 1 hit
PfamiView protein in Pfam
PF00292 PAX, 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 (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P15863-1) [UniParc]FASTAAdd to basket

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
MKFTLGLGSR AWRVSWEGAA AAAAGPGAGG SALRCRAQRV SSPRLGRRGS
60 70 80 90 100
RLSGALPLCL SRGGGGAQAL PDCAGPSPGH PGHPGARQLA GPLAMEQTYG
110 120 130 140 150
EVNQLGGVFV NGRPLPNAIR LRIVELAQLG IRPCDISRQL RVSHGCVSKI
160 170 180 190 200
LARYNETGSI LPGAIGGSKP RVTTPNVVKH IRDYKQGDPG IFAWEIRDRL
210 220 230 240 250
LADGVCDKYN VPSVSSISRI LRNKIGSLAQ PGPYEASKQP PSQPTLPYNH
260 270 280 290 300
IYQYPYPSPV SPTGAKMGSH PGVPGTAGHV SIPRSWPSAH SVSNILGIRT
310 320 330 340 350
FMEQTGALAG SEGTAYSPKM EDWAGVNRTA FPATPAVNGL EKPALEADIK
360 370 380 390 400
YTQSASTLSA VGGFLPACAY PASNQHGVYS APGGGYLAPG PPWPPAQGPP
410 420 430 440 450
LAPPGAGVAV HGGELAAAMT FKHPSREGSL PAPAARPRTP SVAYTDCPSR
460 470 480 490 500
PRPPRGSSPR TRARRERQAD PGAQVCAAAP AIGTGRIGGL AEEEASAGPR
510 520 530
GARPASPQAQ PCLWPDPPHF LYWSGFLGFS ELGF
Length:534
Mass (Da):55,499
Last modified:May 18, 2010 - v4
Checksum:i6B06A2AD302FDEEA
GO
Isoform 2 (identifier: P15863-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: MKFTLGLGSR...ARQLAGPLAM → MRRAPLRGSS...SGSLLSGASA
     428-534: GSLPAPAARP...GFLGFSELGF → VADRKPPSSGSKAPDALSSLHGLPIPASTS

Show »
Length:433
Mass (Da):45,118
Checksum:i0C7B15EABE3BC79E
GO
Isoform 3 (identifier: P15863-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: MKFTLGLGSR...ARQLAGPLAM → MRRAPLRGSS...SGSLLSGASA

Note: No experimental confirmation available.
Show »
Length:510
Mass (Da):53,393
Checksum:i0EB46FE06D86D72E
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WXV5A0A087WXV5_HUMAN
Paired box protein Pax-1
PAX1
457Annotation score:

Sequence cautioni

The sequence AAH69134 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAU21037 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003787139Q → H Found in a patient with neural tube defects; unknown pathological significance. 1 Publication1
Natural variantiVAR_070922166G → V in OTFCS2; significantly reduced transactivation of the regulatory sequence of NKX3-2 in cells over-expressing the mutant sequence compared to cells over-expressing wild-type sequence. 1 PublicationCorresponds to variant dbSNP:rs540296842EnsemblClinVar.1
Natural variantiVAR_055369439T → R1 PublicationCorresponds to variant dbSNP:rs17861058Ensembl.1
Natural variantiVAR_055370453P → L1 PublicationCorresponds to variant dbSNP:rs17861059Ensembl.1
Natural variantiVAR_055371504P → L1 PublicationCorresponds to variant dbSNP:rs17861061Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0390951 – 95MKFTL…GPLAM → MRRAPLRGSSAPLPTPSQTQ AVCPWTPSCLGTHRSPLEVR LGAVPRSAWGPLANPPGVFS PSGSLLSGASA in isoform 2 and isoform 3. 1 PublicationAdd BLAST95
Alternative sequenceiVSP_039096428 – 534GSLPA…SELGF → VADRKPPSSGSKAPDALSSL HGLPIPASTS in isoform 2. 1 PublicationAdd BLAST107

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK303335 mRNA Translation: BAG64398.1
AY740018 Genomic DNA Translation: AAU21037.1 Different initiation.
AL035562 Genomic DNA No translation available.
BC069134 mRNA Translation: AAH69134.1 Different initiation.
X15044 Genomic DNA Translation: CAA33146.1
CCDSiCCDS13146.2 [P15863-1]
PIRiS06961
RefSeqiNP_006183.2, NM_006192.4 [P15863-1]
UniGeneiHs.122310

Genome annotation databases

EnsembliENST00000398485; ENSP00000381499; ENSG00000125813 [P15863-1]
ENST00000444366; ENSP00000410355; ENSG00000125813 [P15863-2]
GeneIDi5075
KEGGihsa:5075
UCSCiuc002wsj.4 human [P15863-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK303335 mRNA Translation: BAG64398.1
AY740018 Genomic DNA Translation: AAU21037.1 Different initiation.
AL035562 Genomic DNA No translation available.
BC069134 mRNA Translation: AAH69134.1 Different initiation.
X15044 Genomic DNA Translation: CAA33146.1
CCDSiCCDS13146.2 [P15863-1]
PIRiS06961
RefSeqiNP_006183.2, NM_006192.4 [P15863-1]
UniGeneiHs.122310

3D structure databases

ProteinModelPortaliP15863
SMRiP15863
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111109, 2 interactors
MINTiP15863
STRINGi9606.ENSP00000381499

PTM databases

iPTMnetiP15863
PhosphoSitePlusiP15863

Polymorphism and mutation databases

BioMutaiPAX1
DMDMi296439493

Proteomic databases

PaxDbiP15863
PeptideAtlasiP15863
PRIDEiP15863
ProteomicsDBi53230
53231 [P15863-2]
53232 [P15863-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000398485; ENSP00000381499; ENSG00000125813 [P15863-1]
ENST00000444366; ENSP00000410355; ENSG00000125813 [P15863-2]
GeneIDi5075
KEGGihsa:5075
UCSCiuc002wsj.4 human [P15863-1]

Organism-specific databases

CTDi5075
DisGeNETi5075
EuPathDBiHostDB:ENSG00000125813.13
GeneCardsiPAX1
H-InvDBiHIX0040597
HGNCiHGNC:8615 PAX1
MalaCardsiPAX1
MIMi167411 gene
615560 phenotype
neXtProtiNX_P15863
OpenTargetsiENSG00000125813
Orphaneti2792 Otofaciocervical syndrome
PharmGKBiPA32955
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3517 Eukaryota
ENOG4111FI9 LUCA
GeneTreeiENSGT00680000099553
HOGENOMiHOG000230938
HOVERGENiHBG009115
InParanoidiP15863
KOiK09382
OMAiKMGSHHG
OrthoDBiEOG091G0S4E
PhylomeDBiP15863
TreeFamiTF315397

Enzyme and pathway databases

SIGNORiP15863

Miscellaneous databases

ChiTaRSiPAX1 human
GeneWikiiPAX1
GenomeRNAii5075
PROiPR:P15863
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125813 Expressed in 47 organ(s), highest expression level in tonsil
CleanExiHS_PAX1
ExpressionAtlasiP15863 baseline and differential
GenevisibleiP15863 HS

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
IPR033206 PAX1
IPR036388 WH-like_DNA-bd_sf
PANTHERiPTHR24329:SF262 PTHR24329:SF262, 1 hit
PfamiView protein in Pfam
PF00292 PAX, 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
ProtoNetiSearch...

Entry informationi

Entry nameiPAX1_HUMAN
AccessioniPrimary (citable) accession number: P15863
Secondary accession number(s): B4E0D6
, Q642X9, Q6NTC0, Q9Y558
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 171 of the entry and version 4 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

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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