Reviewed,
UniProtKB/Swiss-Prot O95389 (WISP3_HUMAN)
Last modified
February 9, 2010.
Version 82.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: WNT1-inducible-signaling pathway protein 3 Short name=WISP-3 Alternative name(s): CCN family member 6 | ||||||
| Gene names |
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| 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 | 354 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Appears to be required for normal postnatal skeletal growth and cartilage homeostasis. |
| Subcellular location | Secreted Probable. |
| Tissue specificity | Predominant expression in adult kidney and testis and fetal kidney. Weaker expression found in placenta, ovary, prostate and small intestine. Also expressed in skeletally-derived cells such as synoviocytes and articular cartilage chondrocytes. |
| Involvement in disease | Defects in WISP3 are the cause of progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]. PPAC is an autosomal recessive disorder characterized by stiffness and swelling of joints, motor weakness and joint contractures. Signs and symptoms of the disease develop typically between three and eight years of age. This progressive disease is a primary disorder of articular cartilage with continued cartilage loss and destructive bone changes with aging. Ref.6 |
| Sequence similarities | Belongs to the CCN family. Contains 1 CTCK (C-terminal cystine knot-like) domain. Contains 1 IGFBP N-terminal domain. Contains 1 TSP type-1 domain. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Secreted |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation |
| Domain | Signal |
| Molecular function | Growth factor |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | cell-cell signaling Ref.1 Traceable author statement. Source: ProtInc regulation of cell growthInferred from electronic annotation. Source: InterPro signal transduction Ref.1Traceable author statement. Source: ProtInc |
| Cellular component | extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell soluble fraction Ref.1Traceable author statement. Source: ProtInc |
| Molecular function | growth factor activity Inferred from electronic annotation. Source: UniProtKB-KW insulin-like growth factor bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O95389-1) 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: O95389-2) The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MNKRRLLYPSGWLHGPSDM |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 23 | 23 | Potential | ||||||||
| Chain | 24 – 354 | 331 | WNT1-inducible-signaling pathway protein 3 | PRO_0000014412 | |||||||
Regions | |||||||||||
| Domain | 44 – 117 | 74 | IGFBP N-terminal | ||||||||
| Domain | 208 – 253 | 46 | TSP type-1 | ||||||||
| Domain | 268 – 342 | 75 | CTCK | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 178 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 308 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 268 ↔ 305 | By similarity | |||||||||
| Disulfide bond | 285 ↔ 319 | By similarity | |||||||||
| Disulfide bond | 296 ↔ 335 | By similarity | |||||||||
| Disulfide bond | 299 ↔ 337 | By similarity | |||||||||
| Disulfide bond | 304 ↔ 341 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 1 | 1 | M → MNKRRLLYPSGWLHGPSDM in isoform 2. | VSP_037803 | |||||||
| Natural variant | 56 | 1 | Q → H Common polymorphism. dbSNP rs1230345. Ref.6 | VAR_016224 | |||||||
| Natural variant | 60 | 1 | R → C: dbSNP rs17073260. | VAR_049567 | |||||||
| Natural variant | 78 | 1 | C → R in PPAC. Ref.6 | VAR_016225 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 200 | 1 | N → D in AAQ88715. Ref.2 | ||||||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF100781 mRNA. Translation: AAC96323.1. AY358349 mRNA. Translation: AAQ88715.1. AY358350 mRNA. Translation: AAQ88716.1. Z99289, AL512299 Genomic DNA. Translation: CAI42331.1. AL512299, Z99289 Genomic DNA. Translation: CAI19998.1. CH471051 Genomic DNA. Translation: EAW48273.1. CH471051 Genomic DNA. Translation: EAW48275.1. BC105941 mRNA. Translation: AAI05942.1. |
| IPI | IPI00022051. IPI00419732. |
| RefSeq | NP_003871.1. NP_937882.1. |
| UniGene | Hs.558428 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | O95389. |
Proteomic databases | |
| PRIDE | O95389. |
Genome annotation databases | |
| Ensembl | ENST00000230529; ENSP00000230529; ENSG00000112761; Homo sapiens. [Genome view] ENST00000361714; ENSP00000354734; ENSG00000112761; Homo sapiens. [Genome view] ENST00000368666; ENSP00000357655; ENSG00000112761; Homo sapiens. [Genome view] |
| GeneID | 8838. |
| KEGG | hsa:8838. |
| UCSC | uc003pvm.1. human. |
Organism-specific databases | |
| CTD | 8838. |
| GeneCards | GC06P112481. |
| HGNC | HGNC:12771. WISP3. |
| MIM | 208230. phenotype. 603400. gene. |
| Orphanet | 1159. Arthropathy progressive pseudorheumatoid of childhood. 252. Spondyloepimetaphyseal dysplasia. |
| PharmGKB | PA37374. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG04716. |
| HOVERGEN | O95389. |
| InParanoid | O95389. |
| OMA | DRPRYET. |
Gene expression databases | |
| ArrayExpress | O95389. |
| Bgee | O95389. |
| CleanEx | HS_WISP3. |
| Genevestigator | O95389. |
| GermOnline | ENSG00000112761. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR006208. Cys_knot. IPR006207. Cys_knot_C. IPR000867. IGFBP-like. IPR012395. IGFBP_CNN. IPR017891. Insulin_GF-bd_Cys-rich_CS. IPR000884. Thrombospondin_1_rpt. [Graphical view] |
| Pfam | PF00007. Cys_knot. 1 hit. PF00219. IGFBP. 1 hit. PF00090. TSP_1. 1 hit. [Graphical view] |
| PIRSF | PIRSF036495. IGFBP_rP_CNN. 1 hit. |
| SMART | SM00041. CT. 1 hit. SM00121. IB. 1 hit. SM00209. TSP1. 1 hit. [Graphical view] |
| PROSITE | PS01185. CTCK_1. False negative. PS01225. CTCK_2. 1 hit. PS00222. IGFBP_N_1. 1 hit. PS51323. IGFBP_N_2. 1 hit. PS50092. TSP1. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 33172. |
| SOURCE | Search... |
Entry information
| Entry name | WISP3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O95389 Secondary accession number(s): Q3KR29, Q5H8W4, Q6UXH6 | ||||||||
| Entry history |
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| 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 6 Human chromosome 6: 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


