P15863 (PAX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
December 14, 2011.
Version 112.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Paired box protein Pax-1 Alternative name(s): HuP48 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 534 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript 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 | |
| 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 process | Transcription Transcription regulation |
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Paired box |
| Ligand | DNA-binding |
| Molecular function | Activator Developmental protein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | transcription from RNA polymerase II promoter Traceable author statement. Source: ProtInc |
| Cellular component | nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | DNA 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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 534 | 534 | Paired box protein Pax-1 | PRO_0000050172 | |||||
Regions | |||||||||
| Domain | 98 – 224 | 127 | Paired | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 95 | 95 | MKFTL…GPLAM → MRRAPLRGSSAPLPTPSQTQ AVCPWTPSCLGTHRSPLEVR LGAVPRSAWGPLANPPGVFS PSGSLLSGASA in isoform 2 and isoform 3. | VSP_039095 | |||||
| Alternative sequence | 428 – 534 | 107 | GSLPA…SELGF → VADRKPPSSGSKAPDALSSL HGLPIPASTS in isoform 2. | VSP_039096 | |||||
| Natural variant | 139 | 1 | Q → H in a patient with neural tube defects, but not clearly linked to the disease. Ref.6 | VAR_003787 | |||||
| Natural variant | 439 | 1 | T → R. Ref.2 Corresponds to variant rs17861058 [ dbSNP | Ensembl ]. | VAR_055369 | |||||
| Natural variant | 453 | 1 | P → L. Ref.2 Corresponds to variant rs17861059 [ dbSNP | Ensembl ]. | VAR_055370 | |||||
| Natural variant | 504 | 1 | P → L. Ref.2 Corresponds to variant rs17861061 [ dbSNP | Ensembl ]. | VAR_055371 | |||||
Sequences
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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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [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. Rogers J.Nature 414:865-871(2001) [PubMed: 11780052] [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: 15489334] [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: 2501086] [Abstract] Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2/3). |
| [6] | "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: 8863157] [Abstract] Cited for: VARIANT HIS-139. |
| + | 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. |
| IPI | IPI00013473. IPI00419577. IPI00963849. |
| PIR | S06961. |
| RefSeq | NP_006183.2. NM_006192.3. |
| UniGene | Hs.349082. |
3D structure databases | |
| ProteinModelPortal | P15863. |
| SMR | P15863. Positions 102-224. |
| ModBase | Search... |
Protein-protein interaction databases | |
| MINT | MINT-202824. |
| STRING | P15863. |
Polymorphism databases | |
| DMDM | 296439493. |
Proteomic databases | |
| PRIDE | P15863. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000377123; ENSP00000366327; ENSG00000125813. ENST00000398485; ENSP00000381499; ENSG00000125813. |
| GeneID | 5075. |
| KEGG | hsa:5075. |
| UCSC | uc002wsj.2. human. |
Organism-specific databases | |
| CTD | 5075. |
| GeneCards | GC20P021634. |
| H-InvDB | HIX0040597. |
| HGNC | HGNC:8615. PAX1. |
| MIM | 167411. gene. |
| neXtProt | NX_P15863. |
| PharmGKB | PA32955. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG05518. |
| GeneTree | ENSGT00600000084204. |
| HOGENOM | HBG716959. |
| HOVERGEN | HBG009115. |
| InParanoid | P15863. |
| OMA | AMAFKHP. |
| OrthoDB | EOG4W6NW9. |
| PhylomeDB | P15863. |
Gene expression databases | |
| ArrayExpress | P15863. |
| Bgee | P15863. |
| CleanEx | HS_PAX1. |
| Genevestigator | P15863. |
| GermOnline | ENSG00000125813. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR009057. Homeodomain-like. IPR001523. Paired_box_N. IPR011991. WHTH_trsnscrt_rep_DNA-bd. [Graphical view] |
| Gene3D | G3DSA:1.10.10.10. Wing_hlx_DNA_bd. 2 hits. |
| KO | K09382. |
| Pfam | PF00292. PAX. 1 hit. [Graphical view] |
| PRINTS | PR00027. PAIREDBOX. |
| SMART | SM00351. PAX. 1 hit. [Graphical view] |
| SUPFAM | SSF46689. Homeodomain_like. 1 hit. |
| PROSITE | PS00034. PAIRED_1. 1 hit. PS51057. PAIRED_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 19556. |
| SOURCE | Search... |
Entry information
| Entry name | PAX1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P15863 Secondary accession number(s): B4E0D6 Q9Y558 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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
| Human chromosome 20 Human chromosome 20: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with