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P15863 (PAX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 134. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Paired box protein Pax-1
Alternative name(s):
HuP48
Gene names
Name:PAX1
Synonyms:HUP48
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length534 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Nucleus.

Involvement in disease

Otofaciocervical syndrome 2 (OFC2) [MIM:615560]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Sequence similarities

Contains 1 paired domain.

Sequence caution

The sequence AAH69134.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence AAU21037.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDeafness
Disease mutation
Mental retardation
   DomainPaired box
   LigandDNA-binding
   Molecular functionActivator
Developmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processCD4-positive, alpha-beta T cell differentiation

Inferred from electronic annotation. Source: Ensembl

CD8-positive, alpha-beta T cell differentiation

Inferred from electronic annotation. Source: Ensembl

bone morphogenesis

Inferred from electronic annotation. Source: Ensembl

cell proliferation

Inferred from electronic annotation. Source: Ensembl

parathyroid gland development

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

sclerotome development

Inferred from electronic annotation. Source: Ensembl

skeletal system development

Traceable author statement PubMed 9671740. Source: ProtInc

somitogenesis

Inferred from electronic annotation. Source: Ensembl

thymus development

Inferred from electronic annotation. Source: Ensembl

transcription from RNA polymerase II promoter

Traceable author statement PubMed 1358810. Source: ProtInc

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P15863-1)

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.
Isoform 2 (identifier: P15863-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: MKFTLGLGSR...ARQLAGPLAM → MRRAPLRGSS...SGSLLSGASA
     428-534: GSLPAPAARP...GFLGFSELGF → VADRKPPSSGSKAPDALSSLHGLPIPASTS
Isoform 3 (identifier: P15863-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: MKFTLGLGSR...ARQLAGPLAM → MRRAPLRGSS...SGSLLSGASA
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 534534Paired box protein Pax-1
PRO_0000050172

Regions

Domain98 – 224127Paired

Natural variations

Alternative sequence1 – 9595MKFTL…GPLAM → MRRAPLRGSSAPLPTPSQTQ AVCPWTPSCLGTHRSPLEVR LGAVPRSAWGPLANPPGVFS PSGSLLSGASA in isoform 2 and isoform 3.
VSP_039095
Alternative sequence428 – 534107GSLPA…SELGF → VADRKPPSSGSKAPDALSSL HGLPIPASTS in isoform 2.
VSP_039096
Natural variant1391Q → H in a patient with neural tube defects, but not clearly linked to the disease. Ref.7
VAR_003787
Natural variant1661G → V in OFC2; 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. Ref.8
VAR_070922
Natural variant4391T → R. Ref.2
Corresponds to variant rs17861058 [ dbSNP | Ensembl ].
VAR_055369
Natural variant4531P → L. Ref.2
Corresponds to variant rs17861059 [ dbSNP | Ensembl ].
VAR_055370
Natural variant5041P → L. Ref.2
Corresponds to variant rs17861061 [ dbSNP | Ensembl ].
VAR_055371

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 4.
Checksum: 6B06A2AD302FDEEA

FASTA53455,499
        10         20         30         40         50         60 
MKFTLGLGSR AWRVSWEGAA AAAAGPGAGG SALRCRAQRV SSPRLGRRGS RLSGALPLCL 

        70         80         90        100        110        120 
SRGGGGAQAL PDCAGPSPGH PGHPGARQLA GPLAMEQTYG EVNQLGGVFV NGRPLPNAIR 

       130        140        150        160        170        180 
LRIVELAQLG IRPCDISRQL RVSHGCVSKI LARYNETGSI LPGAIGGSKP RVTTPNVVKH 

       190        200        210        220        230        240 
IRDYKQGDPG IFAWEIRDRL LADGVCDKYN VPSVSSISRI LRNKIGSLAQ PGPYEASKQP 

       250        260        270        280        290        300 
PSQPTLPYNH IYQYPYPSPV SPTGAKMGSH PGVPGTAGHV SIPRSWPSAH SVSNILGIRT 

       310        320        330        340        350        360 
FMEQTGALAG SEGTAYSPKM EDWAGVNRTA FPATPAVNGL EKPALEADIK YTQSASTLSA 

       370        380        390        400        410        420 
VGGFLPACAY PASNQHGVYS APGGGYLAPG PPWPPAQGPP LAPPGAGVAV HGGELAAAMT 

       430        440        450        460        470        480 
FKHPSREGSL PAPAARPRTP SVAYTDCPSR PRPPRGSSPR TRARRERQAD PGAQVCAAAP 

       490        500        510        520        530 
AIGTGRIGGL AEEEASAGPR GARPASPQAQ PCLWPDPPHF LYWSGFLGFS ELGF 

« Hide

Isoform 2 [UniParc].

Checksum: 0C7B15EABE3BC79E
Show »

FASTA43345,118
Isoform 3 [UniParc].

Checksum: 0EB46FE06D86D72E
Show »

FASTA51053,393

References

« Hide 'large scale' references
[1]"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. expand/collapse author list , 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 2).
Tissue: Thymus.
[2]NIEHS SNPs program
Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3), VARIANTS ARG-439; LEU-453 AND LEU-504.
[3]"The DNA sequence and comparative analysis of human chromosome 20."
Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. expand/collapse author list , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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] OF 95-534 (ISOFORM 1).
[5]"Conservation of the paired domain in metazoans and its structure in three isolated human genes."
Burri M., Tromvoukis Y., Bopp D., Frigerio G., Noll M.
EMBO J. 8:1183-1190(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2/3).
[6]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[7]"PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida."
Hol F.A., Geurds M.P.A., Chatkupt S., Shugart Y.Y., Balling R., Schrander-Stumpel C.T.R.M., Johnson W.G., Hamel B.C.J., Mariman E.C.M.
J. Med. Genet. 33:655-660(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HIS-139.
[8]"A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome."
Pohl E., Aykut A., Beleggia F., Karaca E., Durmaz B., Keupp K., Arslan E., Palamar M., Onay M.P., Yigit G., Ozkinay F., Wollnik B.
Hum. Genet. 132:1311-1320(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT OFC2 VAL-166, CHARACTERIZATION OF VARIANT OFC2 VAL-166.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK303335 mRNA. Translation: BAG64398.1.
AY740018 Genomic DNA. Translation: AAU21037.1. Different initiation.
AL035562 Genomic DNA. Translation: CAX12115.1.
AL035562 Genomic DNA. Translation: CAB46996.2.
BC069134 mRNA. Translation: AAH69134.1. Different initiation.
X15044 Genomic DNA. Translation: CAA33146.1.
CCDSCCDS13146.2. [P15863-1]
PIRS06961.
RefSeqNP_006183.2. NM_006192.4. [P15863-1]
UniGeneHs.122310.

3D structure databases

ProteinModelPortalP15863.
SMRP15863. Positions 102-224.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111109. 2 interactions.
MINTMINT-202824.
STRING9606.ENSP00000381499.

PTM databases

PhosphoSiteP15863.

Polymorphism databases

DMDM296439493.

Proteomic databases

PaxDbP15863.
PRIDEP15863.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000398485; ENSP00000381499; ENSG00000125813. [P15863-1]
ENST00000444366; ENSP00000410355; ENSG00000125813. [P15863-2]
GeneID5075.
KEGGhsa:5075.
UCSCuc002wsj.3. human. [P15863-1]
uc010zsm.3. human. [P15863-2]

Organism-specific databases

CTD5075.
GeneCardsGC20P021634.
H-InvDBHIX0040597.
HGNCHGNC:8615. PAX1.
MIM167411. gene.
615560. phenotype.
neXtProtNX_P15863.
Orphanet2792. Otofaciocervical syndrome.
PharmGKBPA32955.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG252808.
HOGENOMHOG000230938.
HOVERGENHBG009115.
InParanoidP15863.
KOK09382.
OMACITWGED.
OrthoDBEOG79KPH3.
PhylomeDBP15863.
TreeFamTF315397.

Gene expression databases

BgeeP15863.
CleanExHS_PAX1.
GenevestigatorP15863.

Family and domain databases

Gene3D1.10.10.10. 2 hits.
InterProIPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF00292. PAX. 1 hit.
[Graphical view]
PRINTSPR00027. PAIREDBOX.
SMARTSM00351. PAX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPAX1. human.
GeneWikiPAX1.
GenomeRNAi5075.
NextBio19556.
PROP15863.
SOURCESearch...

Entry information

Entry namePAX1_HUMAN
AccessionPrimary (citable) accession number: P15863
Secondary accession number(s): B4E0D6 expand/collapse secondary AC list , Q642X9, Q6NTC0, Q9Y558
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 134 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM