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Protein

Paired box protein Pax-1

Gene

PAX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  1. DNA binding Source: UniProtKB-KW

GO - Biological processi

  1. bone morphogenesis Source: Ensembl
  2. CD4-positive, alpha-beta T cell differentiation Source: Ensembl
  3. CD8-positive, alpha-beta T cell differentiation Source: Ensembl
  4. cell proliferation Source: Ensembl
  5. parathyroid gland development Source: Ensembl
  6. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  7. sclerotome development Source: Ensembl
  8. skeletal system development Source: ProtInc
  9. somitogenesis Source: Ensembl
  10. thymus development Source: Ensembl
  11. transcription from RNA polymerase II promoter Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:8615. PAX1.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Otofaciocervical syndrome 2 (OFC2)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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti166 – 1661G → 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. 1 Publication
VAR_070922

Keywords - Diseasei

Deafness, Disease mutation, Mental retardation

Organism-specific databases

MIMi615560. phenotype.
Orphaneti2792. Otofaciocervical syndrome.
PharmGKBiPA32955.

Polymorphism and mutation databases

BioMutaiPAX1.
DMDMi296439493.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 534534Paired box protein Pax-1PRO_0000050172Add
BLAST

Proteomic databases

PaxDbiP15863.
PRIDEiP15863.

PTM databases

PhosphoSiteiP15863.

Expressioni

Gene expression databases

BgeeiP15863.
CleanExiHS_PAX1.
GenevestigatoriP15863.

Interactioni

Protein-protein interaction databases

BioGridi111109. 2 interactions.
MINTiMINT-202824.
STRINGi9606.ENSP00000381499.

Structurei

3D structure databases

ProteinModelPortaliP15863.
SMRiP15863. Positions 102-224.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini98 – 224127PairedPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 paired domain.PROSITE-ProRule annotation

Keywords - Domaini

Paired box

Phylogenomic databases

eggNOGiNOG252808.
GeneTreeiENSGT00680000099553.
HOGENOMiHOG000230938.
HOVERGENiHBG009115.
InParanoidiP15863.
KOiK09382.
OMAiKMGSHHG.
OrthoDBiEOG79KPH3.
PhylomeDBiP15863.
TreeFamiTF315397.

Family and domain databases

Gene3Di1.10.10.10. 2 hits.
InterProiIPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00292. PAX. 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 (3)i

Sequence statusi: Complete.

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

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

Sequence cautioni

The sequence AAH69134.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAU21037.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti139 – 1391Q → H Found in a patient with neural tube defects; unknown pathological significance. 1 Publication
VAR_003787
Natural varianti166 – 1661G → 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. 1 Publication
VAR_070922
Natural varianti439 – 4391T → R.1 Publication
Corresponds to variant rs17861058 [ dbSNP | Ensembl ].
VAR_055369
Natural varianti453 – 4531P → L.1 Publication
Corresponds to variant rs17861059 [ dbSNP | Ensembl ].
VAR_055370
Natural varianti504 – 5041P → L.1 Publication
Corresponds to variant rs17861061 [ dbSNP | Ensembl ].
VAR_055371

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 9595MKFTL…GPLAM → MRRAPLRGSSAPLPTPSQTQ AVCPWTPSCLGTHRSPLEVR LGAVPRSAWGPLANPPGVFS PSGSLLSGASA in isoform 2 and isoform 3. 1 PublicationVSP_039095Add
BLAST
Alternative sequencei428 – 534107GSLPA…SELGF → VADRKPPSSGSKAPDALSSL HGLPIPASTS in isoform 2. 1 PublicationVSP_039096Add
BLAST

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. Translation: CAX12115.1.
AL035562 Genomic DNA. Translation: CAB46996.2.
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.3. human. [P15863-1]
uc010zsm.3. human. [P15863-2]

Polymorphism and mutation databases

BioMutaiPAX1.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. Translation: CAX12115.1.
AL035562 Genomic DNA. Translation: CAB46996.2.
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. Positions 102-224.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111109. 2 interactions.
MINTiMINT-202824.
STRINGi9606.ENSP00000381499.

PTM databases

PhosphoSiteiP15863.

Polymorphism and mutation databases

BioMutaiPAX1.
DMDMi296439493.

Proteomic databases

PaxDbiP15863.
PRIDEiP15863.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000398485; ENSP00000381499; ENSG00000125813. [P15863-1]
ENST00000444366; ENSP00000410355; ENSG00000125813. [P15863-2]
GeneIDi5075.
KEGGihsa:5075.
UCSCiuc002wsj.3. human. [P15863-1]
uc010zsm.3. human. [P15863-2]

Organism-specific databases

CTDi5075.
GeneCardsiGC20P021634.
H-InvDBHIX0040597.
HGNCiHGNC:8615. PAX1.
MIMi167411. gene.
615560. phenotype.
neXtProtiNX_P15863.
Orphaneti2792. Otofaciocervical syndrome.
PharmGKBiPA32955.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG252808.
GeneTreeiENSGT00680000099553.
HOGENOMiHOG000230938.
HOVERGENiHBG009115.
InParanoidiP15863.
KOiK09382.
OMAiKMGSHHG.
OrthoDBiEOG79KPH3.
PhylomeDBiP15863.
TreeFamiTF315397.

Miscellaneous databases

ChiTaRSiPAX1. human.
GeneWikiiPAX1.
GenomeRNAii5075.
NextBioi19556.
PROiP15863.
SOURCEiSearch...

Gene expression databases

BgeeiP15863.
CleanExiHS_PAX1.
GenevestigatoriP15863.

Family and domain databases

Gene3Di1.10.10.10. 2 hits.
InterProiIPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00292. PAX. 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...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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.

Entry informationi

Entry nameiPAX1_HUMAN
AccessioniPrimary (citable) accession number: P15863
Secondary accession number(s): B4E0D6
, Q642X9, Q6NTC0, Q9Y558
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: May 18, 2010
Last modified: April 29, 2015
This is version 139 of the entry and version 4 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.