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UniProtKB - P23760 (PAX3_HUMAN)

Entry version 211 (08 May 2019)
Sequence version 2 (01 Nov 1995)
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Protein

Paired box protein Pax-3

Gene

PAX3

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10 (PubMed:21965087).2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi219 – 278HomeoboxPROSITE-ProRule annotationAdd BLAST60

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processMyogenesis, Neurogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-3214847 HATs acetylate histones

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P23760

SIGNOR Signaling Network Open Resource

More...SIGNORi		P23760

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Paired box protein Pax-3
Alternative name(s):
HuP2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PAX3
Synonyms:HUP2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:8617 PAX3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606597 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P23760

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Waardenburg syndrome 1 (WS1)20 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionWS1 is an autosomal dominant disorder characterized by non-progressive sensorineural deafness, pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma, and wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum). WS1 shows variable clinical expression and some affected individuals do not manifest hearing impairment or iris pigmentation disturbances. Dystopia canthorum is the most consistent sign and is found in 98% of the patients.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00379045F → L in WS1. 1 Publication1
Natural variantiVAR_01753348G → R in WS1. 1 Publication1
Natural variantiVAR_00379350P → L in WS1; important hearing loss. 1 PublicationCorresponds to variant dbSNP:rs104893650EnsemblClinVar.1
Natural variantiVAR_00379456R → L in WS1; associated with meningomyelocele. 1 PublicationCorresponds to variant dbSNP:rs267606931EnsemblClinVar.1
Natural variantiVAR_00379559I → F in WS1. 1 Publication1
Natural variantiVAR_00379659I → N in WS1. 1 Publication1
Natural variantiVAR_00379760V → M in WS1. 2 Publications1
Natural variantiVAR_00379862M → V in WS1. 2 Publications1
Natural variantiVAR_00379963 – 67Missing in WS1. 1 Publication5
Natural variantiVAR_01364073S → L in WS1. 1 Publication1
Natural variantiVAR_01753478V → M in WS1. 1 Publication1
Natural variantiVAR_07961980H → D in WS1; results in decreased transcriptional activation of MITF; no effect on localization to nucleus; no effect on interaction with SOX10. 2 PublicationsCorresponds to variant dbSNP:rs387906947EnsemblClinVar.1
Natural variantiVAR_00380081G → A in WS1; originally classified as Waardenburg syndrome type 2. 2 PublicationsCorresponds to variant dbSNP:rs587776586EnsemblClinVar.1
Natural variantiVAR_00380285K → E in WS1. 1 Publication1
Natural variantiVAR_00380399G → D in WS1. 2 PublicationsCorresponds to variant dbSNP:rs1189463428Ensembl.1
Natural variantiVAR_079620223 – 479Missing in WS1. 2 PublicationsAdd BLAST257
Natural variantiVAR_079621234L → P in WS1. 2 Publications1
Natural variantiVAR_003804238F → S in WS1. 1 Publication1
Natural variantiVAR_003805265V → F in WS1. 1 Publication1
Natural variantiVAR_017536266W → C in WS1. 1 Publication1
Natural variantiVAR_013619270R → C in WS1 and WS3. 3 PublicationsCorresponds to variant dbSNP:rs1228590199EnsemblClinVar.1
Natural variantiVAR_017537271R → C in WS1. 1 PublicationCorresponds to variant dbSNP:rs1380858784EnsemblClinVar.1
Natural variantiVAR_003806271R → G in WS1. 1 Publication1
Natural variantiVAR_017538271R → H in WS1; associated with K-273 in one family. 3 PublicationsCorresponds to variant dbSNP:rs774528745EnsemblClinVar.1
Natural variantiVAR_017539273R → K in WS1; associated with H-271 in one family; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1020175890EnsemblClinVar.1
Natural variantiVAR_013641391Q → H in WS1. 1 Publication1
Waardenburg syndrome 3 (WS3)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionWS3 is an autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, dystopia canthorum and limb anomalies such as hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, syndactylies.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00379147N → H in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893653EnsemblClinVar.1
Natural variantiVAR_00380184S → F in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893651EnsemblClinVar.1
Natural variantiVAR_01753590Y → H in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893654EnsemblClinVar.1
Natural variantiVAR_013619270R → C in WS1 and WS3. 3 PublicationsCorresponds to variant dbSNP:rs1228590199EnsemblClinVar.1
Craniofacial-deafness-hand syndrome (CDHS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThought 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00379247N → K in CDHS. 1 PublicationCorresponds to variant dbSNP:rs104893652EnsemblClinVar.1
Rhabdomyosarcoma 2 (RMS2)1 Publication
The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving PAX3 is found in rhabdomyosarcoma. Translocation (2;13)(q35;q14) with FOXO1. The resulting protein is a transcriptional activator.1 Publication
Disease descriptionA form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas.
Related information in OMIM
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.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei319 – 320Breakpoint for translocation to form PAX3-NCOA1 oncogene2

Keywords - Diseasei

Deafness, Disease mutation, Proto-oncogene, Waardenburg syndrome

Organism-specific databases

DisGeNET

More...DisGeNETi		5077

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		PAX3

MalaCards human disease database

More...MalaCardsi		PAX3
MIMi122880 phenotype
148820 phenotype
193500 phenotype
268220 phenotype

Open Targets

More...OpenTargetsi		ENSG00000135903

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		99756 Alveolar rhabdomyosarcoma
1529 Craniofacial-deafness-hand syndrome
894 Waardenburg syndrome type 1
896 Waardenburg syndrome type 3

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA32957

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PAX3

Domain mapping of disease mutations (DMDM)

More...DMDMi		1172022

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000501781 – 479Paired box protein Pax-3Add BLAST479

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei201Phosphoserine1 Publication1
Modified residuei205Phosphoserine1 Publication1
Modified residuei209Phosphoserine1 Publication1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P23760

MaxQB - The MaxQuant DataBase

More...MaxQBi		P23760

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P23760

PeptideAtlas

More...PeptideAtlasi		P23760

PRoteomics IDEntifications database

More...PRIDEi		P23760

ProteomicsDB human proteome resource

More...ProteomicsDBi		54150
54151 [P23760-2]
54152 [P23760-3]
54153 [P23760-4]
54154 [P23760-5]
54155 [P23760-6]
54156 [P23760-7]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P23760

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P23760

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000135903 Expressed in 66 organ(s), highest expression level in nasal cavity mucosa

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P23760 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P23760 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA063659
HPA069000

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Can bind to DNA as a homodimer or a heterodimer with PAX7. Interacts with PAXBP1; the interaction links PAX3 to a WDR5-containing histone methyltransferase complex. Interacts with DAXX. Interacts with TBX18. Interacts with SOX10 (PubMed:21965087).By similarity3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		111111, 22 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P23760

Protein interaction database and analysis system

More...IntActi		P23760, 11 interactors

Molecular INTeraction database

More...MINTi		P23760

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000375921

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1479
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P23760

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P23760

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini34 – 161PairedPROSITE-ProRule annotationAdd BLAST128

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the paired homeobox family.Curated

Keywords - Domaini

Homeobox, Paired box

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0849 Eukaryota
ENOG410XS01 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156504

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000230939

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P23760

KEGG Orthology (KO)

More...KOi		K09381

Identification of Orthologs from Complete Genome Data

More...OMAi		VHQSTLP

Database of Orthologous Groups

More...OrthoDBi		1126858at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P23760

TreeFam database of animal gene trees

More...TreeFami		TF351610

Family and domain databases

Conserved Domains Database

More...CDDi		cd00086 homeodomain, 1 hit
cd00131 PAX, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR001523 Paired_dom
IPR022106 Pax7_C
IPR036388 WH-like_DNA-bd_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00046 Homeodomain, 1 hit
PF00292 PAX, 1 hit
PF12360 Pax7, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00027 PAIREDBOX

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00389 HOX, 1 hit
SM00351 PAX, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46689 SSF46689, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
PS00034 PAIRED_1, 1 hit
PS51057 PAIRED_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (8)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 8 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform Pax3 (identifier: P23760-1) [UniParc]FASTAAdd to basket
Also known as: Pax3C

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
MTTLAGAVPR MMRPGPGQNY PRSGFPLEVS TPLGQGRVNQ LGGVFINGRP 
        60         70         80         90        100
LPNHIRHKIV EMAHHGIRPC VISRQLRVSH GCVSKILCRY QETGSIRPGA 
       110        120        130        140        150
IGGSKPKQVT TPDVEKKIEE YKRENPGMFS WEIRDKLLKD AVCDRNTVPS 
       160        170        180        190        200
VSSISRILRS KFGKGEEEEA DLERKEAEES EKKAKHSIDG ILSERASAPQ 
       210        220        230        240        250
SDEGSDIDSE PDLPLKRKQR RSRTTFTAEQ LEELERAFER THYPDIYTRE 
       260        270        280        290        300
ELAQRAKLTE ARVQVWFSNR RARWRKQAGA NQLMAFNHLI PGGFPPTAMP 
       310        320        330        340        350
TLPTYQLSET SYQPTSIPQA VSDPSSTVHR PQPLPPSTVH QSTIPSNPDS 
       360        370        380        390        400
SSAYCLPSTR HGFSSYTDSF VPPSGPSNPM NPTIGNGLSP QVMGLLTNHG 
       410        420        430        440        450
GVPHQPQTDY ALSPLTGGLE PTTTVSASCS QRLDHMKSLD SLPTSQSYCP 
       460        470 
PTYSTTGYSM DPVTGYQYGQ YGQSKPWTF
Length:479
Mass (Da):52,968
Last modified:November 1, 1995 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8AFCA674E3ACB4FE
GO
Isoform Pax3A (identifier: P23760-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     196-215: ASAPQSDEGSDIDSEPDLPL → GKRWRLGRRTCWVTWRASAS
     216-479: Missing.

Show »
Length:215
Mass (Da):24,136
Checksum:i3D91C2A5ED028A3A
GO
Isoform Pax3B (identifier: P23760-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     196-206: ASAPQSDEGSD → GKALVSGVSSH
     207-479: Missing.

Show »
Length:206
Mass (Da):22,743
Checksum:i01F6B51388572EE5
GO
Isoform Pax3G (identifier: P23760-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     393-479: MGLLTNHGGV...QYGQSKPWTF → PFIISSQISRK

Show »
Length:403
Mass (Da):44,822
Checksum:i60AF2F51DA96982B
GO
Isoform Pax3H (identifier: P23760-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     393-479: MGLLTNHGGV...QYGQSKPWTF → PFIISSQISLGFKSF

Show »
Length:407
Mass (Da):45,217
Checksum:iC8F3DD809BFC0F51
GO
Isoform 6 (identifier: P23760-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     108-108: Missing.
     475-479: KPWTF → AFHYLKPDIA

Note: No experimental confirmation available.
Show »
Length:483
Mass (Da):53,336
Checksum:i31DAA0369ECC4610
GO
Isoform 7 (identifier: P23760-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     475-479: KPWTF → AFHYLKPDIA

Show »
Length:484
Mass (Da):53,464
Checksum:iFA56CD0432F41644
GO
Isoform Pax3E (identifier: P23760-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     475-479: KPWTF → AFHYLKPDIAWFQILLNTFDKSSGEEEDLEQ

Show »
Length:505
Mass (Da):55,975
Checksum:iE06973C26D9803C3
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti358S → R in AAP13872 (PubMed:14639621).Curated1
Sequence conflicti358S → R in AAP13873 (PubMed:14639621).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00379045F → L in WS1. 1 Publication1
Natural variantiVAR_00379147N → H in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893653EnsemblClinVar.1
Natural variantiVAR_00379247N → K in CDHS. 1 PublicationCorresponds to variant dbSNP:rs104893652EnsemblClinVar.1
Natural variantiVAR_01753348G → R in WS1. 1 Publication1
Natural variantiVAR_00379350P → L in WS1; important hearing loss. 1 PublicationCorresponds to variant dbSNP:rs104893650EnsemblClinVar.1
Natural variantiVAR_00379456R → L in WS1; associated with meningomyelocele. 1 PublicationCorresponds to variant dbSNP:rs267606931EnsemblClinVar.1
Natural variantiVAR_00379559I → F in WS1. 1 Publication1
Natural variantiVAR_00379659I → N in WS1. 1 Publication1
Natural variantiVAR_00379760V → M in WS1. 2 Publications1
Natural variantiVAR_00379862M → V in WS1. 2 Publications1
Natural variantiVAR_00379963 – 67Missing in WS1. 1 Publication5
Natural variantiVAR_01364073S → L in WS1. 1 Publication1
Natural variantiVAR_01753478V → M in WS1. 1 Publication1
Natural variantiVAR_07961980H → D in WS1; results in decreased transcriptional activation of MITF; no effect on localization to nucleus; no effect on interaction with SOX10. 2 PublicationsCorresponds to variant dbSNP:rs387906947EnsemblClinVar.1
Natural variantiVAR_00380081G → A in WS1; originally classified as Waardenburg syndrome type 2. 2 PublicationsCorresponds to variant dbSNP:rs587776586EnsemblClinVar.1
Natural variantiVAR_00380184S → F in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893651EnsemblClinVar.1
Natural variantiVAR_00380285K → E in WS1. 1 Publication1
Natural variantiVAR_01753590Y → H in WS3. 1 PublicationCorresponds to variant dbSNP:rs104893654EnsemblClinVar.1
Natural variantiVAR_00380399G → D in WS1. 2 PublicationsCorresponds to variant dbSNP:rs1189463428Ensembl.1
Natural variantiVAR_079620223 – 479Missing in WS1. 2 PublicationsAdd BLAST257
Natural variantiVAR_079621234L → P in WS1. 2 Publications1
Natural variantiVAR_003804238F → S in WS1. 1 Publication1
Natural variantiVAR_003805265V → F in WS1. 1 Publication1
Natural variantiVAR_017536266W → C in WS1. 1 Publication1
Natural variantiVAR_013619270R → C in WS1 and WS3. 3 PublicationsCorresponds to variant dbSNP:rs1228590199EnsemblClinVar.1
Natural variantiVAR_017537271R → C in WS1. 1 PublicationCorresponds to variant dbSNP:rs1380858784EnsemblClinVar.1
Natural variantiVAR_003806271R → G in WS1. 1 Publication1
Natural variantiVAR_017538271R → H in WS1; associated with K-273 in one family. 3 PublicationsCorresponds to variant dbSNP:rs774528745EnsemblClinVar.1
Natural variantiVAR_017539273R → K in WS1; associated with H-271 in one family; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1020175890EnsemblClinVar.1
Natural variantiVAR_003807315T → K4 PublicationsCorresponds to variant dbSNP:rs2234675EnsemblClinVar.1
Natural variantiVAR_013641391Q → H in WS1. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_043634108Missing in isoform 6. 1 Publication1
Alternative sequenceiVSP_002355196 – 215ASAPQ…PDLPL → GKRWRLGRRTCWVTWRASAS in isoform Pax3A. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_002357196 – 206ASAPQSDEGSD → GKALVSGVSSH in isoform Pax3B. 2 PublicationsAdd BLAST11
Alternative sequenceiVSP_002358207 – 479Missing in isoform Pax3B. 2 PublicationsAdd BLAST273
Alternative sequenceiVSP_002356216 – 479Missing in isoform Pax3A. 1 PublicationAdd BLAST264
Alternative sequenceiVSP_042004393 – 479MGLLT…KPWTF → PFIISSQISRK in isoform Pax3G. 1 PublicationAdd BLAST87
Alternative sequenceiVSP_042005393 – 479MGLLT…KPWTF → PFIISSQISLGFKSF in isoform Pax3H. 1 PublicationAdd BLAST87
Alternative sequenceiVSP_043635475 – 479KPWTF → AFHYLKPDIA in isoform 6 and isoform 7. 2 Publications5
Alternative sequenceiVSP_044915475 – 479KPWTF → AFHYLKPDIAWFQILLNTFD KSSGEEEDLEQ in isoform Pax3E. Curated5

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AY251279 mRNA Translation: AAP13872.1
AY251280 mRNA Translation: AAP13873.1
AK291278 mRNA Translation: BAF83967.1
AC010980 Genomic DNA Translation: AAY14900.1
AC012591 Genomic DNA No translation available.
CH471063 Genomic DNA Translation: EAW70789.1
CH471063 Genomic DNA Translation: EAW70791.1
CH471063 Genomic DNA Translation: EAW70794.1
CH471063 Genomic DNA Translation: EAW70796.1
BC063547 mRNA Translation: AAH63547.1
BC101299 mRNA Translation: AAI01300.1
BC101300 mRNA Translation: AAI01301.1
BC101301 mRNA Translation: AAI01302.1
BC101302 mRNA Translation: AAI01303.1
BC114363 mRNA Translation: AAI14364.1
U12263 Genomic DNA Translation: AAA80573.1
U12259
, U12258, U12260, 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
AY633656 mRNA Translation: AAT47737.1
S83614 Genomic DNA Translation: AAB21476.1
L10614 Genomic DNA Translation: AAA91849.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2448.1 [P23760-8]
CCDS2449.1 [P23760-5]
CCDS2450.1 [P23760-4]
CCDS2451.1 [P23760-3]
CCDS42825.1 [P23760-7]
CCDS42826.1 [P23760-1]
CCDS46522.1 [P23760-6]
CCDS46523.1 [P23760-2]

Protein sequence database of the Protein Information Resource

More...PIRi		I54276
I68547
S06960

NCBI Reference Sequences

More...RefSeqi		NP_000429.2, NM_000438.5 [P23760-2]
NP_001120838.1, NM_001127366.2 [P23760-6]
NP_039230.1, NM_013942.4 [P23760-3]
NP_852122.1, NM_181457.3 [P23760-1]
NP_852123.1, NM_181458.3 [P23760-7]
NP_852124.1, NM_181459.3 [P23760-8]
NP_852125.1, NM_181460.3 [P23760-5]
NP_852126.1, NM_181461.3 [P23760-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000258387; ENSP00000258387; ENSG00000135903 [P23760-3]
ENST00000336840; ENSP00000338767; ENSG00000135903 [P23760-5]
ENST00000344493; ENSP00000342092; ENSG00000135903 [P23760-4]
ENST00000350526; ENSP00000343052; ENSG00000135903 [P23760-1]
ENST00000392069; ENSP00000375921; ENSG00000135903 [P23760-8]
ENST00000392070; ENSP00000375922; ENSG00000135903 [P23760-7]
ENST00000409551; ENSP00000386750; ENSG00000135903 [P23760-6]
ENST00000409828; ENSP00000386817; ENSG00000135903 [P23760-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5077

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5077

UCSC genome browser

More...UCSCi		uc002vmt.3 human [P23760-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY251279 mRNA Translation: AAP13872.1
AY251280 mRNA Translation: AAP13873.1
AK291278 mRNA Translation: BAF83967.1
AC010980 Genomic DNA Translation: AAY14900.1
AC012591 Genomic DNA No translation available.
CH471063 Genomic DNA Translation: EAW70789.1
CH471063 Genomic DNA Translation: EAW70791.1
CH471063 Genomic DNA Translation: EAW70794.1
CH471063 Genomic DNA Translation: EAW70796.1
BC063547 mRNA Translation: AAH63547.1
BC101299 mRNA Translation: AAI01300.1
BC101300 mRNA Translation: AAI01301.1
BC101301 mRNA Translation: AAI01302.1
BC101302 mRNA Translation: AAI01303.1
BC114363 mRNA Translation: AAI14364.1
U12263 Genomic DNA Translation: AAA80573.1
U12259
, U12258, U12260, 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
AY633656 mRNA Translation: AAT47737.1
S83614 Genomic DNA Translation: AAB21476.1
L10614 Genomic DNA Translation: AAA91849.1
CCDSiCCDS2448.1 [P23760-8]
CCDS2449.1 [P23760-5]
CCDS2450.1 [P23760-4]
CCDS2451.1 [P23760-3]
CCDS42825.1 [P23760-7]
CCDS42826.1 [P23760-1]
CCDS46522.1 [P23760-6]
CCDS46523.1 [P23760-2]
PIRiI54276
I68547
S06960
RefSeqiNP_000429.2, NM_000438.5 [P23760-2]
NP_001120838.1, NM_001127366.2 [P23760-6]
NP_039230.1, NM_013942.4 [P23760-3]
NP_852122.1, NM_181457.3 [P23760-1]
NP_852123.1, NM_181458.3 [P23760-7]
NP_852124.1, NM_181459.3 [P23760-8]
NP_852125.1, NM_181460.3 [P23760-5]
NP_852126.1, NM_181461.3 [P23760-4]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3CMYX-ray1.95A219-278[»]
SMRiP23760
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111111, 22 interactors
CORUMiP23760
IntActiP23760, 11 interactors
MINTiP23760
STRINGi9606.ENSP00000375921

PTM databases

iPTMnetiP23760
PhosphoSitePlusiP23760

Polymorphism and mutation databases

BioMutaiPAX3
DMDMi1172022

Proteomic databases

jPOSTiP23760
MaxQBiP23760
PaxDbiP23760
PeptideAtlasiP23760
PRIDEiP23760
ProteomicsDBi54150
54151 [P23760-2]
54152 [P23760-3]
54153 [P23760-4]
54154 [P23760-5]
54155 [P23760-6]
54156 [P23760-7]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		5077
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000258387; ENSP00000258387; ENSG00000135903 [P23760-3]
ENST00000336840; ENSP00000338767; ENSG00000135903 [P23760-5]
ENST00000344493; ENSP00000342092; ENSG00000135903 [P23760-4]
ENST00000350526; ENSP00000343052; ENSG00000135903 [P23760-1]
ENST00000392069; ENSP00000375921; ENSG00000135903 [P23760-8]
ENST00000392070; ENSP00000375922; ENSG00000135903 [P23760-7]
ENST00000409551; ENSP00000386750; ENSG00000135903 [P23760-6]
ENST00000409828; ENSP00000386817; ENSG00000135903 [P23760-2]
GeneIDi5077
KEGGihsa:5077
UCSCiuc002vmt.3 human [P23760-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5077
DisGeNETi5077

GeneCards: human genes, protein and diseases

More...GeneCardsi		PAX3
GeneReviewsiPAX3
HGNCiHGNC:8617 PAX3
HPAiHPA063659
HPA069000
MalaCardsiPAX3
MIMi122880 phenotype
148820 phenotype
193500 phenotype
268220 phenotype
606597 gene
neXtProtiNX_P23760
OpenTargetsiENSG00000135903
Orphaneti99756 Alveolar rhabdomyosarcoma
1529 Craniofacial-deafness-hand syndrome
894 Waardenburg syndrome type 1
896 Waardenburg syndrome type 3
PharmGKBiPA32957

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0849 Eukaryota
ENOG410XS01 LUCA
GeneTreeiENSGT00940000156504
HOGENOMiHOG000230939
InParanoidiP23760
KOiK09381
OMAiVHQSTLP
OrthoDBi1126858at2759
PhylomeDBiP23760
TreeFamiTF351610

Enzyme and pathway databases

ReactomeiR-HSA-3214847 HATs acetylate histones
SignaLinkiP23760
SIGNORiP23760

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		PAX3 human
EvolutionaryTraceiP23760

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PAX3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		5077

Protein Ontology

More...PROi		PR:P23760

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000135903 Expressed in 66 organ(s), highest expression level in nasal cavity mucosa
ExpressionAtlasiP23760 baseline and differential
GenevisibleiP23760 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
cd00131 PAX, 1 hit
Gene3Di1.10.10.10, 2 hits
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR001523 Paired_dom
IPR022106 Pax7_C
IPR036388 WH-like_DNA-bd_sf
PfamiView protein in Pfam
PF00046 Homeodomain, 1 hit
PF00292 PAX, 1 hit
PF12360 Pax7, 1 hit
PRINTSiPR00027 PAIREDBOX
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SM00351 PAX, 1 hit
SUPFAMiSSF46689 SSF46689, 2 hits
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
PS00034 PAIRED_1, 1 hit
PS51057 PAIRED_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPAX3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P23760
Secondary accession number(s): G5E9C1
, Q16448, Q494Z3, Q494Z4, Q53T90, Q6GSJ9, Q86UQ2, Q86UQ3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: November 1, 1995
Last modified: May 8, 2019
This is version 211 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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