PSTPIP1 wt Allele

Preferred Label : PSTPIP1 wt Allele;

NCIt synonyms : PAPAS; H-PIP; CD2BP1; CD2BP1L; CD2BP1S; Proline-Serine-Threonine Phosphatase Interacting Protein 1 wt Allele; PSTPIP;

NCIt definition : Human PSTPIP1 wild-type allele is located in the vicinity of 15q24.3 and is approximately 44 kb in length. This allele, which encodes proline-serine-threonine phosphatase-interacting protein 1, plays a role in immunoregulation and actin polymerization. Mutation of the gene is associated with pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome (PAPAS).;

NCI Metathesaurus CUI : CL1642522;

GenBank Accession Number : U94778;

Details

Origin ID

C176459;

UMLS CUI

C5442653;

Automatic exact mappings (from CISMeF team)
- PSTPIP1 protein, human [MeSH Supplementary Concept]
- Pregnancy associated plasma protein A [LOINC component]
- Proline/serine/threonine phosphatase-interacting protein 1 [OMIM gene]
- Pyogenic sterile arthritis, pyoderma gangrenosum, and acne [OMIM Phenotype]
- pregnancy-associated plasma protein-a [MeSH Descriptor]
- proline-serine-threonine phosphatase interacting protein 1 [ORDO Gene]
OMIM relation
- Proline/serine/threonine phosphatase-interacting protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- NOD-Like Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Movement Process [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Immune System Process [NCIt concept]
- Inflammatory Response [NCIt concept]
- Protein Dephosphorylation [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients