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PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 [ Homo sapiens (human) ]

Gene ID: 9051, updated on 3-Apr-2024

Summary

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Official Symbol
PSTPIP1provided by HGNC
Official Full Name
proline-serine-threonine phosphatase interacting protein 1provided by HGNC
Primary source
HGNC:HGNC:9580
See related
Ensembl:ENSG00000140368 MIM:606347; AllianceGenome:HGNC:9580
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
H-PIP; PAPAS; CD2BP1; PSTPIP; CD2BP1L; CD2BP1S
Summary
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]
Expression
Biased expression in bone marrow (RPKM 17.6), spleen (RPKM 10.0) and 9 other tissues See more
Orthologs
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Genomic context

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See PSTPIP1 in Genome Data Viewer
Location:
15q24.3
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (76994680..77037475)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (74853833..74896621)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (77287021..77329816)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9884 Neighboring gene RNA, 7SL, cytoplasmic 278, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9885 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6694 Neighboring gene keratin 8 pseudogene 23 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:77306630-77307130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:77311440-77312012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9888 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:77325558-77326195 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:77326833-77327470 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:77327471-77328106 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:77335480-77336679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6695 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6696 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9889 Neighboring gene tetraspanin 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:77376319-77376819 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:77406591-77406779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:77429442-77429992 Neighboring gene pseudopodium enriched atypical kinase 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:77448039-77448540 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:77448541-77449040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9893 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 27

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa. Morales-Heil DJ, et al. HGG Adv, 2023 Apr 13. PMID 37013170, Free PMC Article
  2. Strong inflammatory signatures in the neutrophils of PAMI syndrome. Zheng W, et al. Front Immunol, 2022. PMID 36203570, Free PMC Article
  3. Clinical and genetic characteristics of PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome. Zhang D, et al. Pediatr Rheumatol Online J, 2021 Oct 7. PMID 34620178, Free PMC Article
  4. Excess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1. Stone DL, et al. Arthritis Rheumatol, 2022 Feb. PMID 34492165, Free PMC Article
  5. PAMI syndrome: A rare cause that can be easily misdiagnosed. Xu XM, et al. Am J Med Genet A, 2021 Oct. PMID 34047005

See all (75) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.
    Title: Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.
  2. PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review.
    Title: PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review.
  3. Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa.
    Title: Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa.
  4. Strong inflammatory signatures in the neutrophils of PAMI syndrome.
    Title: Strong inflammatory signatures in the neutrophils of PAMI syndrome.
  5. Clinical and genetic characteristics of PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome.
    Title: Clinical and genetic characteristics of PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome.
  6. Excess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1.
    Title: Excess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1.
  7. A reciprocal feedback loop between HIF-1alpha and HPIP controls phenotypic plasticity in breast cancer cells.
    Title: A reciprocal feedback loop between HIF-1α and HPIP controls phenotypic plasticity in breast cancer cells.
  8. PAMI syndrome: A rare cause that can be easily misdiagnosed.
    Title: PAMI syndrome: A rare cause that can be easily misdiagnosed.
  9. Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases.
    Title: Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases.
  10. HPIP protooncogene differentially regulates metabolic adaptation and cell fate in breast cancer cells under glucose stress via AMPK and RNF2 dependent pathways.
    Title: HPIP protooncogene differentially regulates metabolic adaptation and cell fate in breast cancer cells under glucose stress via AMPK and RNF2 dependent pathways.
Submit: New GeneRIF Correction See all GeneRIFs (42)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
MedGen: C1858361 OMIM: 604416 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin filament polymerization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in endocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in inflammatory response IEA
Inferred from Electronic Annotation
more info
  
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in actin filament IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cleavage furrow IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in lamellipodium IEA
Inferred from Electronic Annotation
more info
  
located_in membrane HDA PubMed 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in uropod IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
proline-serine-threonine phosphatase-interacting protein 1
Names
CD2 antigen-binding protein 1
CD2 cytoplasmic tail-binding protein
CD2-binding protein 1
PEST phosphatase-interacting protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007526.1 RefSeqGene

    Range
    5001..47207
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_172

mRNA and Protein(s)

  1. NM_001321135.2 → NP_001308064.1  proline-serine-threonine phosphatase-interacting protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AF038602, BI028090, DA952061
    Consensus CDS
    CCDS81910.1
    UniProtKB/Swiss-Prot
    O43586
    Related
    ENSP00000452743.1, ENST00000559295.5
    Conserved Domains (2) summary
    cd11824
    Location:344 → 396
    SH3_PSTPIP1; Src homology 3 domain of Proline-Serine-Threonine Phosphatase-Interacting Protein 1
    cl12013
    Location:16 → 257
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  2. NM_001321136.2 → NP_001308065.1  proline-serine-threonine phosphatase-interacting protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK309856, BI028090
    Conserved Domains (2) summary
    cd11824
    Location:354 → 406
    SH3_PSTPIP1; Src homology 3 domain of Proline-Serine-Threonine Phosphatase-Interacting Protein 1
    cl12013
    Location:7 → 248
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  3. NM_001321137.1 → NP_001308066.1  proline-serine-threonine phosphatase-interacting protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AK308462, BC008602, BI028090
    UniProtKB/Swiss-Prot
    O43586
    Related
    ENSP00000452986.1, ENST00000559785.5
    Conserved Domains (2) summary
    cd07671
    Location:81 → 322
    F-BAR_PSTPIP1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Proline-Serine-Threonine Phosphatase-Interacting Protein 1
    cd11824
    Location:428 → 480
    SH3_PSTPIP1; Src homology 3 domain of Proline-Serine-Threonine Phosphatase-Interacting Protein 1

  4. NM_001411086.1 → NP_001398015.1  proline-serine-threonine phosphatase-interacting protein 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC090181
    Consensus CDS
    CCDS92045.1
    UniProtKB/TrEMBL
    J3KPG6
    Related
    ENSP00000368914.3, ENST00000379595.7

  5. NM_003978.5 → NP_003969.2  proline-serine-threonine phosphatase-interacting protein 1 isoform 1

    See identical proteins and their annotated locations for NP_003969.2

    Status: REVIEWED

    Source sequence(s)
    BC008602, BI028090, DA952061
    Consensus CDS
    CCDS45312.1
    UniProtKB/Swiss-Prot
    B5BU74, B5BUK4, O43585, O43586, O95657
    UniProtKB/TrEMBL
    A0A0S2Z5P3
    Related
    ENSP00000452746.1, ENST00000558012.6
    Conserved Domains (2) summary
    cd11824
    Location:363 → 415
    SH3_PSTPIP1; Src homology 3 domain of Proline-Serine-Threonine Phosphatase-Interacting Protein 1
    cl12013
    Location:16 → 257
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

RNA

  1. NR_135552.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    BI028090, DA952061, KU178459

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    76994680..77037475
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522168.4 → XP_011520470.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X1

    Conserved Domains (2) summary
    cd11824
    Location:382 → 434
    SH3_PSTPIP1; Src homology 3 domain of Proline-Serine-Threonine Phosphatase-Interacting Protein 1
    cl12013
    Location:16 → 276
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  2. XM_011522163.3 → XP_011520465.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X2

    Conserved Domains (2) summary
    cd11824
    Location:379 → 431
    SH3_PSTPIP1; Src homology 3 domain of Proline-Serine-Threonine Phosphatase-Interacting Protein 1
    cl12013
    Location:16 → 276
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  3. XM_047433276.1 → XP_047289232.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X3

  4. XM_047433281.1 → XP_047289237.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X10

  5. XM_047433277.1 → XP_047289233.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X6

  6. XM_047433280.1 → XP_047289236.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X8

  7. XM_011522166.2 → XP_011520468.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X5

    UniProtKB/TrEMBL
    H0YKY3
    Conserved Domains (1) summary
    cl12013
    Location:16 → 276
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  8. XM_011522167.2 → XP_011520469.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X9

    Conserved Domains (1) summary
    cl12013
    Location:16 → 276
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  9. XM_011522169.2 → XP_011520471.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X12

    Conserved Domains (1) summary
    cl12013
    Location:16 → 266
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  10. XM_011522165.3 → XP_011520467.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X4

    Conserved Domains (2) summary
    cd11824
    Location:314 → 366
    SH3_PSTPIP1; Src homology 3 domain of Proline-Serine-Threonine Phosphatase-Interacting Protein 1
    cl12013
    Location:4 → 208
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  11. XM_047433278.1 → XP_047289234.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X7

  12. XM_006720737.4 → XP_006720800.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X11

    See identical proteins and their annotated locations for XP_006720800.1

    Conserved Domains (2) summary
    cd11824
    Location:241 → 293
    SH3_PSTPIP1; Src homology 3 domain of Proline-Serine-Threonine Phosphatase-Interacting Protein 1
    cl12013
    Location:1 → 135
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    74853833..74896621
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379111.1 → XP_054235086.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X1

  2. XM_054379112.1 → XP_054235087.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X2

  3. XM_054379113.1 → XP_054235088.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X3

  4. XM_054379120.1 → XP_054235095.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X10

  5. XM_054379116.1 → XP_054235091.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X6

  6. XM_054379118.1 → XP_054235093.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X8

  7. XM_054379115.1 → XP_054235090.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X5

  8. XM_054379119.1 → XP_054235094.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X9

  9. XM_054379122.1 → XP_054235097.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X12

  10. XM_054379114.1 → XP_054235089.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X4

  11. XM_054379117.1 → XP_054235092.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X7

  12. XM_054379121.1 → XP_054235096.1  proline-serine-threonine phosphatase-interacting protein 1 isoform X11

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43586.1 GenPept UniProtKB/Swiss-Prot:O43586

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