LOCUS       NM_003978               1998 bp    mRNA    linear   PRI 25-SEP-2024
DEFINITION  Homo sapiens proline-serine-threonine phosphatase interacting
            protein 1 (PSTPIP1), transcript variant 1, mRNA.
ACCESSION   NM_003978
VERSION     NM_003978.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1998)
  AUTHORS   Ozkilinc Onen,M., Onat,U.I., Ugurlu,S., Timucin,A.C., Oz Arslan,D.,
            Everest,E., Ozdogan,H. and Tahir Turanli,E.
  TITLE     Detection of a rare variant in PSTPIP1 through three generations in
            a family with an initial diagnosis of FMF/MKD-overlapping phenotype
  JOURNAL   Rheumatology (Oxford) 62 (9), 3188-3196 (2023)
   PUBMED   36692132
  REMARK    GeneRIF: Detection of a rare variant in PSTPIP1 through three
            generations in a family with an initial diagnosis of
            FMF/MKD-overlapping phenotype.
REFERENCE   2  (bases 1 to 1998)
  AUTHORS   Mejbri,M., Renella,R., Candotti,F., Jaques,C., Holzinger,D.,
            Hofer,M. and Theodoropoulou,K.
  TITLE     PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI)
            Syndrome: A Systematic Review
  JOURNAL   Genes (Basel) 14 (8), 1655 (2023)
   PUBMED   37628706
  REMARK    GeneRIF: PSTPIP1-Associated Myeloid-Related Proteinemia
            Inflammatory (PAMI) Syndrome: A Systematic Review.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1998)
  AUTHORS   Morales-Heil,D.J., Cao,L., Sweeney,C., Malara,A., Brown,F.,
            Milam,P., Anadkat,M., Kaffenberger,J., Kaffenberger,B., Nagele,P.,
            Kirby,B. and Roberson,E.D.O.
  TITLE     Rare missense variants in the SH3 domain of PSTPIP1 are associated
            with hidradenitis suppurativa
  JOURNAL   HGG Adv 4 (2), 100187 (2023)
   PUBMED   37013170
  REMARK    GeneRIF: Rare missense variants in the SH3 domain of PSTPIP1 are
            associated with hidradenitis suppurativa.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1998)
  AUTHORS   Zheng,W., Fan,X., Yang,Z., Shangguan,Y., Jin,T., Liu,Y., Huang,J.,
            Ye,X., Zhou,Q. and Li,X.
  TITLE     Strong inflammatory signatures in the neutrophils of PAMI syndrome
  JOURNAL   Front Immunol 13, 926087 (2022)
   PUBMED   36203570
  REMARK    GeneRIF: Strong inflammatory signatures in the neutrophils of PAMI
            syndrome.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1998)
  AUTHORS   Manso,J.A., Marcos,T., Ruiz-Martin,V., Casas,J., Alcon,P., Sanchez
            Crespo,M., Bayon,Y., de Pereda,J.M. and Alonso,A.
  TITLE     PSTPIP1-LYP phosphatase interaction: structural basis and
            implications for autoinflammatory disorders
  JOURNAL   Cell Mol Life Sci 79 (2), 131 (2022)
   PUBMED   35152348
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1998)
  AUTHORS   Wise,C.A., Gillum,J.D., Seidman,C.E., Lindor,N.M., Veile,R.,
            Bashiardes,S. and Lovett,M.
  TITLE     Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible
            for PAPA syndrome, an autoinflammatory disorder
  JOURNAL   Hum Mol Genet 11 (8), 961-969 (2002)
   PUBMED   11971877
  REMARK    GeneRIF: CD2BP1-mediated biochemical pathway(s) may function in
            common inflammatory disorders with apparent etiological overlap,
            such as rheumatoid arthritis and inflammatory bowel disease
REFERENCE   7  (bases 1 to 1998)
  AUTHORS   Wu,Y., Dowbenko,D. and Lasky,L.A.
  TITLE     PSTPIP 2, a second tyrosine phosphorylated, cytoskeletal-associated
            protein that binds a PEST-type protein-tyrosine phosphatase
  JOURNAL   J Biol Chem 273 (46), 30487-30496 (1998)
   PUBMED   9804817
REFERENCE   8  (bases 1 to 1998)
  AUTHORS   Wu,Y., Spencer,S.D. and Lasky,L.A.
  TITLE     Tyrosine phosphorylation regulates the SH3-mediated binding of the
            Wiskott-Aldrich syndrome protein to PSTPIP, a
            cytoskeletal-associated protein
  JOURNAL   J Biol Chem 273 (10), 5765-5770 (1998)
   PUBMED   9488710
REFERENCE   9  (bases 1 to 1998)
  AUTHORS   Dowbenko,D., Spencer,S., Quan,C. and Lasky,L.A.
  TITLE     Identification of a novel polyproline recognition site in the
            cytoskeletal associated protein, proline serine threonine
            phosphatase interacting protein
  JOURNAL   J Biol Chem 273 (2), 989-996 (1998)
   PUBMED   9422760
REFERENCE   10 (bases 1 to 1998)
  AUTHORS   Spencer,S., Dowbenko,D., Cheng,J., Li,W., Brush,J., Utzig,S.,
            Simanis,V. and Lasky,L.A.
  TITLE     PSTPIP: a tyrosine phosphorylated cleavage furrow-associated
            protein that is a substrate for a PEST tyrosine phosphatase
  JOURNAL   J Cell Biol 138 (4), 845-860 (1997)
   PUBMED   9265651
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA952061.1, BC008602.1 and
            BI028090.1.
            
            On May 17, 2019 this sequence version replaced NM_003978.4.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC008602.1, U94778.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000558012.6/ ENSP00000452746.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-87                DA952061.1         42-128
            88-1853             BC008602.1         1-1766
            1854-1998           BI028090.1         328-472
FEATURES             Location/Qualifiers
     source          1..1998
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.3"
     gene            1..1998
                     /gene="PSTPIP1"
                     /gene_synonym="AICZC; CD2BP1; CD2BP1L; CD2BP1S; H-PIP;
                     PAPA; PAPAS; PSTPIP"
                     /note="proline-serine-threonine phosphatase interacting
                     protein 1"
                     /db_xref="GeneID:9051"
                     /db_xref="HGNC:HGNC:9580"
                     /db_xref="MIM:606347"
     exon            1..484
                     /gene="PSTPIP1"
                     /gene_synonym="AICZC; CD2BP1; CD2BP1L; CD2BP1S; H-PIP;
                     PAPA; PAPAS; PSTPIP"
                     /inference="alignment:Splign:2.1.0"
     CDS             449..1699
                     /gene="PSTPIP1"
                     /gene_synonym="AICZC; CD2BP1; CD2BP1L; CD2BP1S; H-PIP;
                     PAPA; PAPAS; PSTPIP"
                     /note="isoform 1 is encoded by transcript variant 1; CD2
                     cytoplasmic tail-binding protein; CD2 antigen-binding
                     protein 1; PEST phosphatase-interacting protein 1;
                     CD2-binding protein 1"
                     /codon_start=1
                     /product="proline-serine-threonine phosphatase-interacting
                     protein 1 isoform 1"
                     /protein_id="NP_003969.2"
                     /db_xref="CCDS:CCDS45312.1"
                     /db_xref="GeneID:9051"
                     /db_xref="HGNC:HGNC:9580"
                     /db_xref="MIM:606347"
                     /translation="MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLR
                     QRAQAEERYGKELVQIARKAGGQTEINSLRASFDSLKQQMENVGSSHIQLALTLREEL
                     RSLEEFRERQKEQRKKYEAVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFER
                     ISANGHQKQVEKSQNKARQCKDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQL
                     QEFDRLTILRNALWVHSNQLSMQCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGT
                     EPPAPVPYQNYYDREVTPLTSSPGIQPSCGMIKRFSGLLHGSPKTTSLAASAASTETL
                     TPTPERNEGVYTAIAVQEIQGNPASPAQEYRALYDYTAQNPDELDLSAGDILEVILEG
                     EDGWWTVERNGQRGFVPGSYLEKL"
     exon            485..585
                     /gene="PSTPIP1"
                     /gene_synonym="AICZC; CD2BP1; CD2BP1L; CD2BP1S; H-PIP;
                     PAPA; PAPAS; PSTPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            586..660
                     /gene="PSTPIP1"
                     /gene_synonym="AICZC; CD2BP1; CD2BP1L; CD2BP1S; H-PIP;
                     PAPA; PAPAS; PSTPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            661..695
                     /gene="PSTPIP1"
                     /gene_synonym="AICZC; CD2BP1; CD2BP1L; CD2BP1S; H-PIP;
                     PAPA; PAPAS; PSTPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            696..802
                     /gene="PSTPIP1"
                     /gene_synonym="AICZC; CD2BP1; CD2BP1L; CD2BP1S; H-PIP;
                     PAPA; PAPAS; PSTPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            803..865
                     /gene="PSTPIP1"
                     /gene_synonym="AICZC; CD2BP1; CD2BP1L; CD2BP1S; H-PIP;
                     PAPA; PAPAS; PSTPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            866..964
                     /gene="PSTPIP1"
                     /gene_synonym="AICZC; CD2BP1; CD2BP1L; CD2BP1S; H-PIP;
                     PAPA; PAPAS; PSTPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            965..1010
                     /gene="PSTPIP1"
                     /gene_synonym="AICZC; CD2BP1; CD2BP1L; CD2BP1S; H-PIP;
                     PAPA; PAPAS; PSTPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1011..1090
                     /gene="PSTPIP1"
                     /gene_synonym="AICZC; CD2BP1; CD2BP1L; CD2BP1S; H-PIP;
                     PAPA; PAPAS; PSTPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1091..1189
                     /gene="PSTPIP1"
                     /gene_synonym="AICZC; CD2BP1; CD2BP1L; CD2BP1S; H-PIP;
                     PAPA; PAPAS; PSTPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1190..1286
                     /gene="PSTPIP1"
                     /gene_synonym="AICZC; CD2BP1; CD2BP1L; CD2BP1S; H-PIP;
                     PAPA; PAPAS; PSTPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1287..1377
                     /gene="PSTPIP1"
                     /gene_synonym="AICZC; CD2BP1; CD2BP1L; CD2BP1S; H-PIP;
                     PAPA; PAPAS; PSTPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1378..1433
                     /gene="PSTPIP1"
                     /gene_synonym="AICZC; CD2BP1; CD2BP1L; CD2BP1S; H-PIP;
                     PAPA; PAPAS; PSTPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1567
                     /gene="PSTPIP1"
                     /gene_synonym="AICZC; CD2BP1; CD2BP1L; CD2BP1S; H-PIP;
                     PAPA; PAPAS; PSTPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1568..1998
                     /gene="PSTPIP1"
                     /gene_synonym="AICZC; CD2BP1; CD2BP1L; CD2BP1S; H-PIP;
                     PAPA; PAPAS; PSTPIP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1832..1837
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSTPIP1"
                     /gene_synonym="AICZC; CD2BP1; CD2BP1L; CD2BP1S; H-PIP;
                     PAPA; PAPAS; PSTPIP"
                     /note="hexamer: AATAAA"
     polyA_site      1855
                     /gene="PSTPIP1"
                     /gene_synonym="AICZC; CD2BP1; CD2BP1L; CD2BP1S; H-PIP;
                     PAPA; PAPAS; PSTPIP"
                     /note="major polyA site"
ORIGIN      
        1 aaaccttcct gcgcaggcct cgggctgcct gcctgcctgc ctgcctggcc cggcccgagc
       61 tccagcctgc ctcttccact ggccactgcc tcccacccag ggctggcatc cctgctccct
      121 gccctgggtc ccagactgtg tcctccatca ccgcagggtc ggtgaggggc tgggctggac
      181 accagggccc gccctcccat cactgagctc cactccttcc tcattttgct gctgattcta
      241 gccccaaaca aaacaggttg agctttttcc tcccctcaga agctcctctc tggctcgtgg
      301 ctgccttctg agtgttgcag acggcgccgg ccgggaaggg gggcctgggc cagccctgcc
      361 aggactggga cgctgctgct ggcgcctggc cctccatcag gccagcctgt ggcaggagag
      421 tgagctttgc cgcggcagac gcctgaggat gatgccccag ctgcagttca aagatgcctt
      481 ttggtgcagg gacttcacag cccacacggg ctacgaggtg ctgctgcagc ggcttctgga
      541 tggcaggaag atgtgcaaag acatggagga gctactgagg cagagggccc aggcggagga
      601 gcggtacggg aaggagctgg tgcagatcgc acggaaggca ggtggccaga cggagatcaa
      661 ctccctgagg gcctcctttg actccttgaa gcagcaaatg gagaatgtgg gcagctcaca
      721 catccagctg gccctgaccc tgcgtgagga gctgcggagt ctcgaggagt ttcgtgagag
      781 gcagaaggag cagaggaaga agtatgaggc cgtcatggac cgggtccaga agagcaagct
      841 gtcgctctac aagaaggcca tggagtccaa gaagacatac gagcagaagt gccgggacgc
      901 ggacgacgcg gagcaggcct tcgagcgcat tagcgccaac ggccaccaga agcaggtgga
      961 gaagagtcag aacaaagcca ggcagtgcaa ggactcggcc accgaggcag agcgggtata
     1021 caggcagagc attgcgcagc tggagaaggt ccgggctgag tgggagcagg agcaccggac
     1081 cacctgtgag gcctttcagc tgcaagagtt tgaccggctg accattctcc gcaacgccct
     1141 gtgggtgcac agcaaccagc tctccatgca gtgtgtcaag gatgatgagc tctacgagga
     1201 agtgcggctg acgctggaag gctgcagcat agacgccgac atcgacagtt tcatccaggc
     1261 caagagcacg ggcacagagc cccccgctcc ggtgccctac cagaactatt acgatcggga
     1321 ggtcaccccg ctgaccagca gccctggcat acagccgtcc tgcggcatga taaagaggtt
     1381 ctctggactg ctgcacggaa gtcccaagac cacttcgttg gcagcttctg ctgcgtccac
     1441 agagaccctg acccccaccc ccgagcggaa tgagggtgtc tacacagcca tcgcagtgca
     1501 ggagatacag ggaaacccgg cctcaccagc ccaggagtac cgggcgctct acgattatac
     1561 agcgcagaac ccagatgagc tggacctgtc cgcgggagac atcctggagg tgatcctgga
     1621 aggggaggat ggctggtgga ctgtggagag gaacgggcag cgtggcttcg tccctggttc
     1681 ctacctggag aagctttgag gaagggccag gagccccttc ggacctgccc tgccagtgga
     1741 gccagcagtg cccccagcac tgtccccacc ttgctagggc ccagaaccaa gcgtccccca
     1801 gccccgagag ggagcctgtc gtctcccagg gaataaagga gtgcgttctg ttctccttgg
     1861 tgtgctgggg tcccgttctc tttttctcct gctccagtgt ccgagtgctc agttcagagg
     1921 aggcaaagga acaagggaag gagcctggat gtggagctcc ccaactcagc cgaggcttca
     1981 gctatagttg gagaagag
//
