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Gene: PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1) Homo sapiens
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Symbol: PSTPIP1
Name: proline-serine-threonine phosphatase interacting protein 1
Description: This gene encodes a cytoskeletal protein that is highly expressed in hemopoietic tissues. This protein functions via its interaction with several different proteins involved in cytoskeletal organization and inflammatory processes. It binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, downregulating CD2-triggered adhesion. It binds PEST-type protein tyrosine phosphatases (PTP) and directs them to c-Abl kinase to mediate c-Abl dephosphorylation, thereby, regulating c-Abl activity. It also interacts with pyrin, which is found in association with the cytoskeleton in myeloid/monocytic cells and modulates immunoregulatory functions. Mutations in this gene are associated with PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) syndrome. It is hypothesized that the disease-causing mutations compromise physiologic signaling necessary for the maintenance of a proper inflammatory response. [provided by RefSeq, Mar 2016]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CD2 antigen-binding protein 1; CD2 cytoplasmic tail-binding protein; CD2-binding protein 1; CD2BP1; CD2BP1L; CD2BP1S; H-PIP; PAPAS; PEST phosphatase-interacting protein 1; proline-serine-threonine phosphatase-interacting protein 1; PSTPIP; truncated proline-serine-threonine phosphatase interacting protein 1
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381576,994,680 - 77,037,475 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371577,287,021 - 77,329,673 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361575,074,609 - 75,116,726 (+)NCBINCBI36hg18NCBI36
Build 341575,074,608 - 75,116,726NCBI
Celera1554,218,936 - 54,261,238 (+)NCBI
Cytogenetic Map15q24.3NCBI
HuRef1554,044,332 - 54,086,467 (+)NCBIHuRef
CHM1_11577,405,190 - 77,447,980 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
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References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on PSTPIP1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1316821
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.