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P15863

- PAX1_HUMAN

UniProt

P15863 - PAX1_HUMAN

Protein

Paired box protein Pax-1

Gene

PAX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 135 (01 Oct 2014)
      Sequence version 4 (18 May 2010)
      Previous versions | rss
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    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

    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: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:8615. PAX1.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.

    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.
    HOGENOMiHOG000230938.
    HOVERGENiHBG009115.
    InParanoidiP15863.
    KOiK09382.
    OMAiCITWGED.
    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. Align

    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

    MKFTLGLGSR AWRVSWEGAA AAAAGPGAGG SALRCRAQRV SSPRLGRRGS    50
    RLSGALPLCL SRGGGGAQAL PDCAGPSPGH PGHPGARQLA GPLAMEQTYG 100
    EVNQLGGVFV NGRPLPNAIR LRIVELAQLG IRPCDISRQL RVSHGCVSKI 150
    LARYNETGSI LPGAIGGSKP RVTTPNVVKH IRDYKQGDPG IFAWEIRDRL 200
    LADGVCDKYN VPSVSSISRI LRNKIGSLAQ PGPYEASKQP PSQPTLPYNH 250
    IYQYPYPSPV SPTGAKMGSH PGVPGTAGHV SIPRSWPSAH SVSNILGIRT 300
    FMEQTGALAG SEGTAYSPKM EDWAGVNRTA FPATPAVNGL EKPALEADIK 350
    YTQSASTLSA VGGFLPACAY PASNQHGVYS APGGGYLAPG PPWPPAQGPP 400
    LAPPGAGVAV HGGELAAAMT FKHPSREGSL PAPAARPRTP SVAYTDCPSR 450
    PRPPRGSSPR TRARRERQAD PGAQVCAAAP AIGTGRIGGL AEEEASAGPR 500
    GARPASPQAQ PCLWPDPPHF LYWSGFLGFS ELGF 534
    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.
    The sequence AAU21037.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti139 – 1391Q → H in a patient with neural tube defects, but not clearly linked to the disease. 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:
    EMBL
    GenBank
    DDBJ
    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 databases

    DMDMi296439493.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS13146.2. [P15863-1 ]
    PIRi S06961.
    RefSeqi NP_006183.2. NM_006192.4. [P15863-1 ]
    UniGenei Hs.122310.

    3D structure databases

    ProteinModelPortali P15863.
    SMRi P15863. Positions 102-224.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111109. 2 interactions.
    MINTi MINT-202824.
    STRINGi 9606.ENSP00000381499.

    PTM databases

    PhosphoSitei P15863.

    Polymorphism databases

    DMDMi 296439493.

    Proteomic databases

    PaxDbi P15863.
    PRIDEi P15863.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000398485 ; ENSP00000381499 ; ENSG00000125813 . [P15863-1 ]
    ENST00000444366 ; ENSP00000410355 ; ENSG00000125813 . [P15863-2 ]
    GeneIDi 5075.
    KEGGi hsa:5075.
    UCSCi uc002wsj.3. human. [P15863-1 ]
    uc010zsm.3. human. [P15863-2 ]

    Organism-specific databases

    CTDi 5075.
    GeneCardsi GC20P021634.
    H-InvDB HIX0040597.
    HGNCi HGNC:8615. PAX1.
    MIMi 167411. gene.
    615560. phenotype.
    neXtProti NX_P15863.
    Orphaneti 2792. Otofaciocervical syndrome.
    PharmGKBi PA32955.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG252808.
    HOGENOMi HOG000230938.
    HOVERGENi HBG009115.
    InParanoidi P15863.
    KOi K09382.
    OMAi CITWGED.
    OrthoDBi EOG79KPH3.
    PhylomeDBi P15863.
    TreeFami TF315397.

    Miscellaneous databases

    ChiTaRSi PAX1. human.
    GeneWikii PAX1.
    GenomeRNAii 5075.
    NextBioi 19556.
    PROi P15863.
    SOURCEi Search...

    Gene expression databases

    Bgeei P15863.
    CleanExi HS_PAX1.
    Genevestigatori P15863.

    Family and domain databases

    Gene3Di 1.10.10.10. 2 hits.
    InterProi IPR009057. Homeodomain-like.
    IPR001523. Paired_dom.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view ]
    Pfami PF00292. PAX. 1 hit.
    [Graphical view ]
    PRINTSi PR00027. PAIREDBOX.
    SMARTi SM00351. PAX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00034. PAIRED_1. 1 hit.
    PS51057. PAIRED_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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: October 1, 2014
    This is version 135 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