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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
    mouse all
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    Genomic context

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    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
    		Compare labs

    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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