Reviewed,
UniProtKB/Swiss-Prot P23760 (PAX3_HUMAN)
Last modified
October 13, 2009.
Version 118.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Paired box protein Pax-3 Alternative name(s): HUP2 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 479 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Probable transcription factor associated with development of alveolar rhabdomyosarcoma. |
| Subunit structure | Can bind to DNA as a heterodimer with PAX7. Interacts with DAXX. Ref.9 |
| Subcellular location | |
| Involvement in disease | Defects in PAX3 are the cause of Waardenburg syndrome type 1 (WS1) [MIM:193500]. WS1 is an autosomal dominant disorder characterized by wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum), pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma and sensorineural deafness. The syndrome shows variable clinical expression and some affected individuals do not manifest hearing impairment. Ref.3 Ref.6 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.17 Ref.18 Ref.19 Ref.22 Ref.23 Ref.24 Ref.26 Ref.28 Ref.29 Defects in PAX3 are the cause of Waardenburg syndrome type 3 (WS3) [MIM:148820]; also known as Klein-Waardenburg syndrome or Waardenburg syndrome with upper limb anomalies or white forelock with malformations. WS3 is a very rare autosomal dominant disorder, which shares many of the characteristics of WS1. Patients additionally present with musculoskeletal abnormalities. Defects in PAX3 are the cause of craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]. CDHS is thought to be an autosomal dominant disease which comprises absence or hypoplasia of the nasal bones, hypoplastic maxilla, small and short nose with thin nares, limited movement of the wrist, short palpebral fissures, ulnar deviation of the fingers, hypertelorism and profound sensory-neural deafness. Ref.20 A chromosomal aberration involving PAX3 is a cause of rhabdomyosarcoma 2 (RMS2) [MIM:268220]; also known as alveolar rhabdomyosarcoma. Translocation (2;13)(q35;q14) with FOXO1. The resulting protein is a transcriptional activator. A chromosomal aberration involving PAX3 is a cause of rhabdomyosarcoma. Translocation t(2;2)(q35;p23) with NCOA1 generates the NCOA1-PAX3 oncogene consisting of the N-terminus part of PAX3 and the C-terminus part of NCOA1. The fusion protein acts as a transcriptional activator. Rhabdomyosarcoma is the most common soft tissue carcinoma in childhood, representing 5-8% of all malignancies in children. |
| Sequence similarities | Belongs to the paired homeobox family. Contains 1 homeobox DNA-binding domain. Contains 1 paired domain. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| ABL1 | P00519 | 1 | EBI-1167564,EBI-375543 | |
| FYN | P06241 | 1 | EBI-1167564,EBI-515315 | |
| GRB2 | P62993 | 1 | EBI-1167564,EBI-401755 | |
| NCK1 | P16333 | 1 | EBI-1167564,EBI-389883 | |
| POU3F2 | P20265 | 1 | EBI-1167564,EBI-1167176 | |
| SOX10 | P56693 | 1 | EBI-1167564,EBI-1167533 | |
| SRC | P12931 | 1 | EBI-1167564,EBI-621482 |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform Pax3 (identifier: P23760-1) 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 Pax3A (identifier: P23760-2) The sequence of this isoform differs from the canonical sequence as follows: 196-215: ASAPQSDEGSDIDSEPDLPL → GKRWRLGRRTCWVTWRASAS 216-479: Missing. | ||||||
| Isoform Pax3B (identifier: P23760-3) The sequence of this isoform differs from the canonical sequence as follows: 196-206: ASAPQSDEGSD → GKALVSGVSSH 207-479: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||
Molecule processing | |||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 479 | 479 | Paired box protein Pax-3 | PRO_0000050178 | |||||||||||
Regions | |||||||||||||||
| Domain | 34 – 161 | 128 | Paired | ||||||||||||
| DNA binding | 219 – 278 | 60 | Homeobox | ||||||||||||
Sites | |||||||||||||||
| Site | 319 – 320 | 2 | Breakpoint for translocation to form PAX3-NCOA1 oncogene | ||||||||||||
Natural variations | |||||||||||||||
| Alternative sequence | 196 – 215 | 20 | ASAPQ…PDLPL → GKRWRLGRRTCWVTWRASAS in isoform Pax3A. | VSP_002355 | |||||||||||
| Alternative sequence | 196 – 206 | 11 | ASAPQSDEGSD → GKALVSGVSSH in isoform Pax3B. | VSP_002357 | |||||||||||
| Alternative sequence | 207 – 479 | 273 | Missing in isoform Pax3B. | VSP_002358 | |||||||||||
| Alternative sequence | 216 – 479 | 264 | Missing in isoform Pax3A. | VSP_002356 | |||||||||||
| Natural variant | 45 | 1 | F → L in WS1. Ref.3 | VAR_003790 | |||||||||||
| Natural variant | 47 | 1 | N → H in WS3. Ref.13 | VAR_003791 | |||||||||||
| Natural variant | 47 | 1 | N → K in CDHS. Ref.20 | VAR_003792 | |||||||||||
| Natural variant | 48 | 1 | G → R in WS1. Ref.19 | VAR_017533 | |||||||||||
| Natural variant | 50 | 1 | P → L in WS1; important hearing loss. Ref.11 | VAR_003793 | |||||||||||
| Natural variant | 56 | 1 | R → L in WS1; associated with meningomyelocele. Ref.13 | VAR_003794 | |||||||||||
| Natural variant | 59 | 1 | I → F in WS1. Ref.22 | VAR_003795 | |||||||||||
| Natural variant | 59 | 1 | I → N in WS1. Ref.26 | VAR_003796 | |||||||||||
| Natural variant | 60 | 1 | V → M in WS1. Ref.17 Ref.29 | VAR_003797 | |||||||||||
| Natural variant | 62 | 1 | M → V in WS1. Ref.14 Ref.23 | VAR_003798 | |||||||||||
| Natural variant | 63 – 67 | 5 | Missing in WS1. | VAR_003799 | |||||||||||
| Natural variant | 73 | 1 | S → L in WS1. Ref.28 | VAR_013640 | |||||||||||
| Natural variant | 78 | 1 | V → M in WS1. Ref.18 | VAR_017534 | |||||||||||
| Natural variant | 81 | 1 | G → A in WS1; originally classified as Waardenburg syndrome type 2. Ref.12 Ref.18 | VAR_003800 | |||||||||||
| Natural variant | 84 | 1 | S → F in WS3. Ref.16 | VAR_003801 | |||||||||||
| Natural variant | 85 | 1 | K → E in WS1. Ref.17 | VAR_003802 | |||||||||||
| Natural variant | 90 | 1 | Y → H in WS3. Ref.29 | VAR_017535 | |||||||||||
| Natural variant | 99 | 1 | G → D in WS1. Ref.3 Ref.18 | VAR_003803 | |||||||||||
| Natural variant | 238 | 1 | F → S in WS1. Ref.17 | VAR_003804 | |||||||||||
| Natural variant | 265 | 1 | V → F in WS1. Ref.15 | VAR_003805 | |||||||||||
| Natural variant | 266 | 1 | W → C in WS1. Ref.18 | VAR_017536 | |||||||||||
| Natural variant | 270 | 1 | R → C in WS1 and WS3. Ref.18 Ref.19 Ref.27 | VAR_013619 | |||||||||||
| Natural variant | 271 | 1 | R → C in WS1. Ref.18 | VAR_017537 | |||||||||||
| Natural variant | 271 | 1 | R → G in WS1. Ref.15 | VAR_003806 | |||||||||||
| Natural variant | 271 | 1 | R → H in WS1; associated with Lys-273 in one family. Ref.18 Ref.19 | VAR_017538 | |||||||||||
| Natural variant | 273 | 1 | R → K Associated with His-271 in one Waardenburg syndrome type I family. Ref.19 | VAR_017539 | |||||||||||
| Natural variant | 315 | 1 | T → K: dbSNP rs2234675. Ref.18 Ref.19 Ref.21 Ref.25 | VAR_003807 | |||||||||||
| Natural variant | 391 | 1 | Q → H in WS1. Ref.24 | VAR_013641 | |||||||||||
Experimental info | |||||||||||||||
| Sequence conflict | 108 | 1 | Missing Ref.5 | ||||||||||||
Secondary structure | |||||||||||||||
Helix Strand Turn | |||||||||||||||
| Helix | 228 – 240 | 13 | |||||||||||||
| Helix | 246 – 256 | 11 | |||||||||||||
| Helix | 260 – 276 | 17 | |||||||||||||
Sequences
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References
| [1] | "Genomic organization of the human PAX3 gene: DNA sequence analysis of the region disrupted in alveolar rhabdomyosarcoma." Macina R.A., Barr F.G., Galili N., Riethman H.C. Genomics 26:1-8(1995) [PubMed: 7782066] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-29 AND 197-479. |
| [2] | "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: NUCLEOTIDE SEQUENCE OF 30-195. |
| [3] | "PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse." Tassabehji M., Newton V.E., Leverton K., Turnbull K., Seemanova E., Kunze J., Sperling K., Strachan T., Read A.P. Hum. Mol. Genet. 3:1069-1074(1994) [PubMed: 7981674] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 196-392, VARIANTS WS1 LEU-45 AND ASP-99. |
| [4] | "Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues." Tsukamoto K., Nakamura Y., Niikawa N. Hum. Genet. 93:270-274(1994) [PubMed: 7545913] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (PAX3A AND PAX3B). |
| [5] | "Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1." Wachtel M., Dettling M., Koscielniak E., Stegmaier S., Treuner J., Simon-Klingenstein K., Buehlmann P., Niggli F.K., Schaefer B.W. Cancer Res. 64:5539-5545(2004) [PubMed: 15313887] [Abstract] Cited for: NUCLEOTIDE SEQUENCE OF 1-319, CHROMOSOMAL TRANSLOCATION WITH NCOA1. |
| [6] | "Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene." Tassabehji M., Read A.P., Newton V.E., Harris R., Balling R., Gruss P., Strachan T. Nature 355:635-636(1992) [PubMed: 1347148] [Abstract] Cited for: NUCLEOTIDE SEQUENCE OF 56-74, VARIANT WS1 63-ALA--ILE-67 DEL. |
| [7] | Lalwani A.K., Ploplis B., Fex J., Grundfast K.M., San Agustin T.B., Wilcox E.R. Submitted (MAR-1996) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE OF 265-319. |
| [8] | "Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma." Galili N., Davis R.J., Fredericks W.J., Mukhopadhyay S., Rauscher F.J. III, Emanuel B.S., Rovera G., Barr F.G. Nat. Genet. 5:230-235(1993) [PubMed: 8275086] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION WITH FOXO1. |
| [9] | "The Pax3-FKHR oncoprotein is unresponsive to the Pax3-associated repressor hDaxx." Hollenbach A.D., Sublett J.E., McPherson C.J., Grosveld G. EMBO J. 18:3702-3711(1999) [PubMed: 10393185] [Abstract] Cited for: INTERACTION WITH DAXX. |
| [10] | "A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family." Morell R., Friedman T.B., Moeljopawiro S., Hartono S., Asher J.H. Jr. Hum. Mol. Genet. 1:243-247(1992) [PubMed: 1303193] [Abstract] Cited for: INVOLVEMENT IN WS1. |
| [11] | "An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome." Baldwin C.T., Hoth C.F., Amos J.A., Da-Silva E.O., Milunsky A. Nature 355:637-638(1992) [PubMed: 1347149] [Abstract] Cited for: VARIANT WS1 LEU-50. |
| [12] | "Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2." Tassabehji M., Read A.P., Newton V.E., Patton M., Gruss P., Harris R., Strachan T. Nat. Genet. 3:26-30(1993) [PubMed: 8490648] [Abstract] Cited for: VARIANT WS1 ALA-81. |
| [13] | "Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)." Hoth C.F., Milunsky A., Lipsky N., Sheffer R., Clarren S.K., Baldwin C.T. Am. J. Hum. Genet. 52:455-462(1993) [PubMed: 8447316] [Abstract] Cited for: VARIANTS WS3 HIS-47 AND WS1 LEU-56. |
| [14] | "A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1)." Pierpont J.W., Doolan L.D., Amann K., Snead G.R., Erickson R.P. Hum. Mutat. 4:227-228(1994) [PubMed: 7833953] [Abstract] Cited for: VARIANT WS1 VAL-62. |
| [15] | "Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families." Lalwani A.K., Brister J.R., Fex J., Grundfast K.M., Ploplis B., San Agustin T.B., Wilcox E.R. Am. J. Hum. Genet. 56:75-83(1995) [PubMed: 7825605] [Abstract] Cited for: VARIANTS WS1 PHE-265 AND GLY-271. |
| [16] | "Homozygosity for Waardenburg syndrome." Zlotogora J., Lerer I., Bar-David S., Ergaz Z., Abeliovich D. Am. J. Hum. Genet. 56:1173-1178(1995) [PubMed: 7726174] [Abstract] Cited for: VARIANT WS3 PHE-84. |
| [17] | "Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature." Baldwin C.T., Hoth C.F., Macina R.A., Milunsky A. Am. J. Med. Genet. 58:115-122(1995) [PubMed: 8533800] [Abstract] Cited for: VARIANTS WS1 MET-60; GLU-85 AND SER-238. |
| [18] | "The mutational spectrum in Waardenburg syndrome." Tassabehji M., Newton V.E., Liu X.-Z., Brady A., Donnai D., Krajewska-Walasek M., Murday V., Norman A., Obersztyn E., Reardon W., Rice J.C., Trembath R., Wieacker P., Whiteford M., Winter R., Read A.P. Hum. Mol. Genet. 4:2131-2137(1995) [PubMed: 8589691] [Abstract] Cited for: VARIANTS WS1 MET-78; ALA-81; ASP-99; CYS-266; CYS-270; CYS-271 AND HIS-271, VARIANT LYS-315. |
| [19] | "Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?" Pandya A., Xia X.-J., Landa B.L., Arnos K.S., Israel J., Lloyd J., James A.L., Diehl S.R., Blanton S.H., Nance W.E. Hum. Mol. Genet. 5:497-502(1996) [PubMed: 8845842] [Abstract] Cited for: VARIANTS WS1 ARG-48; CYS-270 AND HIS-271, VARIANTS LYS-273 AND LYS-315. |
| [20] | "Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome." Asher J.H. Jr., Sommer A., Morell R., Friedman T.B. Hum. Mutat. 7:30-35(1996) [PubMed: 8664898] [Abstract] Cited for: VARIANT CDHS LYS-47. |
| [21] | "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 LYS-315. |
| [22] | "Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1." Soejima H., Fujimoto M., Tsukamoto K., Matsumoto N., Yoshiura K., Fukushima Y., Jinno Y., Niikawa N. Hum. Mutat. 9:177-180(1997) [PubMed: 9067759] [Abstract] Cited for: VARIANT WS1 PHE-59. |
| [23] | "Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X)." Hol F.A., Geurds M.P.A., Cremers C.W.R.J., Hamel B.C.J., Mariman E.C.M. Hum. Mutat. Suppl. 1:S145-S147(1998) [PubMed: 9452070] [Abstract] Cited for: VARIANT WS1 VAL-62. |
| [24] | "Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7." Carey M.L., Friedman T.B., Asher J.H. Jr., Innis J.W. J. Med. Genet. 35:248-250(1998) [PubMed: 9541113] [Abstract] Cited for: VARIANT WS1 HIS-391. |
| [25] | "A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg syndrome type 2." Wang C., Kim E., Attaie A., Smith T.N., Wilcox E.R., Lalwani A.K. Mol. Cell. Probes 12:55-57(1998) [PubMed: 9584079] [Abstract] Cited for: VARIANT LYS-315. |
| [26] | "A novel missense mutation Ile59Asn in the PAX3 gene in a family with Waardenburg syndrome type I." Markova T.G., Shevtsov S.P., Moskolenko L.N., Lantsov A.A., Schwartz E.I. Hum. Mutat. 13:85-85(1999) Cited for: VARIANT WS1 ASN-59. |
| [27] | Bottani A., Antonarakis S.E., Blouin J.-L. Unpublished observations (MAY-1999) Cited for: VARIANT WS3 CYS-270. |
| [28] | "Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I." Sotirova V.N., Rezaie T.M., Khoshsorour M.M., Sarfarazi M. Ophthalmic Genet. 21:25-28(2000) [PubMed: 10779847] [Abstract] Cited for: VARIANT WS1 LEU-73. |
| [29] | "Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome." Wollnik B., Tukel T., Uyguner O., Ghanbari A., Kayserili H., Emiroglu M., Yuksel-Apak M. Am. J. Med. Genet. A 122:42-45(2003) [PubMed: 12949970] [Abstract] Cited for: VARIANT WS1 MET-60, VARIANT WS3 HIS-90. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| U12263 Genomic DNA. Translation: AAA80573.1. U12259 U12262 Genomic DNA. Translation: AAA80574.1. X15043, X15252, X15253 Genomic DNA. Translation: CAA33145.1. Z29972 Genomic DNA. No translation available. Z29973 Genomic DNA. No translation available. Z29974 Genomic DNA. No translation available. S69369 mRNA. Translation: AAB30167.1. S69370 mRNA. Translation: AAB30168.1. S83614 Genomic DNA. Translation: AAB21476.1. L10614 Genomic DNA. Translation: AAA91849.1. | |||||||||||||
| IPI | IPI00012896. IPI00219092. IPI00219093. | ||||||||||||
| PIR | I54276. I68547. S06960. | ||||||||||||
| RefSeq | NP_000429.2. NP_039230.1. NP_852122.1. | ||||||||||||
| UniGene | Hs.42146 | ||||||||||||
3D structure databases | |||||||||||||
| |||||||||||||
| SMR | P23760. Positions 38-161, 218-277. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | P23760. 7 interactions. | ||||||||||||
| STRING | P23760. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | P23760. | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000258387; ENSP00000258387; ENSG00000135903; Homo sapiens. [Genome view] ENST00000336840; ENSP00000338767; ENSG00000135903; Homo sapiens. [Genome view] ENST00000344493; ENSP00000342092; ENSG00000135903; Homo sapiens. [Genome view] ENST00000350526; ENSP00000343052; ENSG00000135903; Homo sapiens. [Genome view] ENST00000392069; ENSP00000375921; ENSG00000135903; Homo sapiens. [Genome view] ENST00000392070; ENSP00000375922; ENSG00000135903; Homo sapiens. [Genome view] ENST00000409551; ENSP00000386750; ENSG00000135903; Homo sapiens. [Genome view] ENST00000409828; ENSP00000386817; ENSG00000135903; Homo sapiens. [Genome view] | ||||||||||||
| GeneID | 5077. | ||||||||||||
| KEGG | hsa:5077. | ||||||||||||
| UCSC | uc010fwo.1. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 5077. | ||||||||||||
| GeneCards | GC02M222772. | ||||||||||||
| HGNC | HGNC:8617. PAX3. | ||||||||||||
| HPA | CAB013466. | ||||||||||||
| MIM | 122880. phenotype. 148820. phenotype. 193500. phenotype. 268220. phenotype. 606597. gene. | ||||||||||||
| Orphanet | 99756. Alveolar rhabdomyosarcoma. 1529. Craniofacial-deafness-hand syndrome. 780. Rhabdomyosarcoma. 894. Waardenburg syndrome type 1. 896. Waardenburg syndrome type 3. | ||||||||||||
| PharmGKB | PA32957. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| HOVERGEN | P23760. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | P23760. | ||||||||||||
| Bgee | P23760. | ||||||||||||
| CleanEx | HS_PAX3. | ||||||||||||
| Genevestigator | P23760. | ||||||||||||
| GermOnline | ENSG00000135903. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR001356. Homeobox. IPR017970. Homeobox_CS. IPR012287. Homeodomain-rel. IPR001523. Paired_box_N. IPR011991. Wing_hlx_DNA_bd. [Graphical view] | ||||||||||||
| Gene3D | G3DSA:1.10.10.60. Homeodomain-rel. 1 hit. G3DSA:1.10.10.10. Wing_hlx_DNA_bd. 2 hits. | ||||||||||||
| Pfam | PF00046. Homeobox. 1 hit. PF00292. PAX. 1 hit. [Graphical view] | ||||||||||||
| PRINTS | PR00027. PAIREDBOX. | ||||||||||||
| ProDom | PD000010. Homeobox. 1 hit. [Graphical view] [Entries sharing at least one domain] | ||||||||||||
| SMART | SM00389. HOX. 1 hit. SM00351. PAX. 1 hit. [Graphical view] | ||||||||||||
| PROSITE | PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. PS00034. PAIRED_1. 1 hit. PS51057. PAIRED_2. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other Resources | |||||||||||||
| NextBio | 19572. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | PAX3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P23760 Secondary accession number(s): Q16448 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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 2 Human chromosome 2: 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 |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


