LOCUS       NP_003651               1194 aa            linear   PRI 14-MAR-2025
DEFINITION  liprin-alpha-3 [Homo sapiens].
ACCESSION   NP_003651
VERSION     NP_003651.1
DBSOURCE    REFSEQ: accession NM_003660.4
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  (residues 1 to 1194)
  AUTHORS   Paul,M.S., Michener,S.L., Pan,H., Chan,H., Pfliger,J.M.,
            Rosenfeld,J.A., Lerma,V.C., Tran,A., Longley,M.A., Lewis,R.A.,
            Weisz-Hubshman,M., Bekheirnia,M.R., Bekheirnia,N., Massingham,L.,
            Zech,M., Wagner,M., Engels,H., Cremer,K., Mangold,E., Peters,S.,
            Trautmann,J., Mester,J.L., Guillen Sacoto,M.J., Person,R.,
            McDonnell,P.P., Cohen,S.R., Lusk,L., Cohen,A.S.A., Le Pichon,J.B.,
            Pastinen,T., Zhou,D., Engleman,K., Racine,C., Faivre,L.,
            Moutton,S., Denomme-Pichon,A.S., Koh,H.Y., Poduri,A., Bolton,J.,
            Knopp,C., Julia Suh,D.S., Maier,A., Toosi,M.B., Karimiani,E.G.,
            Maroofian,R., Schaefer,G.B., Ramakumaran,V., Vasudevan,P.,
            Prasad,C., Osmond,M., Schuhmann,S., Vasileiou,G., Russ-Hall,S.,
            Scheffer,I.E., Carvill,G.L., Mefford,H., Bacino,C.A., Lee,B.H. and
            Chao,H.T.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     A syndromic neurodevelopmental disorder caused by rare variants in
            PPFIA3
  JOURNAL   Am J Hum Genet 111 (1), 96-118 (2024)
   PUBMED   38181735
  REMARK    GeneRIF: A syndromic neurodevelopmental disorder caused by rare
            variants in PPFIA3.
            Erratum:[Am J Hum Genet. 2024 Apr 4;111(4):805. doi:
            10.1016/j.ajhg.2024.03.009. PMID: 38508193]
REFERENCE   2  (residues 1 to 1194)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (residues 1 to 1194)
  AUTHORS   Li,W.H., Zhou,Z.J., Huang,T.H., Guo,K., Chen,W., Wang,Y., Zhang,H.,
            Song,Y.C. and Chang,D.M.
  TITLE     Detection of OSR2, VAV3, and PPFIA3 Methylation in the Serum of
            Patients with Gastric Cancer
  JOURNAL   Dis Markers 2016, 5780538 (2016)
   PUBMED   27143812
  REMARK    GeneRIF: Results found that OSR2, VAV3, and PPFIA3 were
            significantly hypermethylated in gastric cancer (GC) patients
            offering a good alternative in a simple, promising, and noninvasive
            detection of GC.
REFERENCE   4  (residues 1 to 1194)
  AUTHORS   Joshi,C.S., Suryawanshi,A.R., Khan,S.A., Balasinor,N.H. and
            Khole,V.V.
  TITLE     Liprin alpha3: a putative estrogen regulated acrosomal protein
  JOURNAL   Histochem Cell Biol 139 (4), 535-548 (2013)
   PUBMED   23124857
REFERENCE   5  (residues 1 to 1194)
  AUTHORS   Wu,C., Ma,M.H., Brown,K.R., Geisler,M., Li,L., Tzeng,E., Jia,C.Y.,
            Jurisica,I. and Li,S.S.
  TITLE     Systematic identification of SH3 domain-mediated human
            protein-protein interactions by peptide array target screening
  JOURNAL   Proteomics 7 (11), 1775-1785 (2007)
   PUBMED   17474147
REFERENCE   6  (residues 1 to 1194)
  AUTHORS   Sudhof,T.C.
  TITLE     The synaptic vesicle cycle
  JOURNAL   Annu Rev Neurosci 27, 509-547 (2004)
   PUBMED   15217342
  REMARK    Review article
REFERENCE   7  (residues 1 to 1194)
  AUTHORS   Ko,J., Na,M., Kim,S., Lee,J.R. and Kim,E.
  TITLE     Interaction of the ERC family of RIM-binding proteins with the
            liprin-alpha family of multidomain proteins
  JOURNAL   J Biol Chem 278 (43), 42377-42385 (2003)
   PUBMED   12923177
REFERENCE   8  (residues 1 to 1194)
  AUTHORS   Serra-Pages,C., Medley,Q.G., Tang,M., Hart,A. and Streuli,M.
  TITLE     Liprins, a family of LAR transmembrane protein-tyrosine
            phosphatase-interacting proteins
  JOURNAL   J Biol Chem 273 (25), 15611-15620 (1998)
   PUBMED   9624153
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA236900.1, AB014554.2,
            AI346749.1 and BX111585.1.
            
            Summary: The protein encoded by this gene is a member of the LAR
            protein-tyrosine phosphatase-interacting protein (liprin) family.
            Liprins interact with members of LAR family of transmembrane
            protein tyrosine phosphatases, which are known to be important for
            axon guidance and mammary gland development. Liprin family protein
            has been shown to localize phosphatase LAR to cell focal adhesions
            and may be involved in the molecular organization of presynaptic
            active zones. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes a functional protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB014554.2, BC101518.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000334186.9/ ENSP00000335614.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1194
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     Protein         1..1194
                     /product="liprin-alpha-3"
                     /note="protein tyrosine phosphatase, receptor type, f
                     polypeptide, alpha 3; liprin; protein tyrosine phosphatase
                     receptor type f polypeptide-interacting protein alpha-3;
                     protein tyrosine phosphatase, receptor type, f polypeptide
                     (PTPRF), interacting protein (liprin), alpha 3"
                     /calculated_mol_wt=133366
     Region          1..23
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75145.3)"
     Site            17
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75145.3)"
     Region          39..>635
                     /region_name="Smc"
                     /note="Chromosome segregation ATPase Smc [Cell cycle
                     control, cell division, chromosome partitioning]; COG1196"
                     /db_xref="CDD:440809"
     Site            142
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75145.3)"
     Region          202..233
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75145.3)"
     Site            207
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (O75145.3)"
     Site            431
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q13136; propagated from
                     UniProtKB/Swiss-Prot (O75145.3)"
     Site            508
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P60469; propagated from
                     UniProtKB/Swiss-Prot (O75145.3)"
     Region          525..583
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75145.3)"
     Region          624..819
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75145.3)"
     Region          630..>836
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Site            640
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q13136; propagated from
                     UniProtKB/Swiss-Prot (O75145.3)"
     Site            645
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P60469; propagated from
                     UniProtKB/Swiss-Prot (O75145.3)"
     Site            668
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q13136; propagated from
                     UniProtKB/Swiss-Prot (O75145.3)"
     Site            683
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75145.3)"
     Site            714
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75145.3)"
     Site            737
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q13136; propagated from
                     UniProtKB/Swiss-Prot (O75145.3)"
     Site            792
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q91Z79; propagated from
                     UniProtKB/Swiss-Prot (O75145.3)"
     Site            794
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q91Z79; propagated from
                     UniProtKB/Swiss-Prot (O75145.3)"
     Region          835..905
                     /region_name="SAM_liprin-alpha1,2,3,4_repeat1"
                     /note="SAM domain of liprin-alpha1,2,3,4 proteins repeat
                     1; cd09562"
                     /db_xref="CDD:188961"
     Region          952..1017
                     /region_name="SAM_liprin-alpha1,2,3,4_repeat2"
                     /note="SAM domain of liprin-alpha1,2,3,4 proteins repeat
                     2; cd09565"
                     /db_xref="CDD:188964"
     Region          1037..1108
                     /region_name="SAM_liprin-alpha1,2,3,4_repeat3"
                     /note="SAM domain of liprin-alpha1,2,3,4 proteins repeat
                     3; cd09568"
                     /db_xref="CDD:188967"
     Site            1123
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q13136; propagated from
                     UniProtKB/Swiss-Prot (O75145.3)"
     Region          1157..1194
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O75145.3)"
     Site            1164
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O75145.3)"
     CDS             1..1194
                     /gene="PPFIA3"
                     /gene_synonym="LPNA3; NEDPACH"
                     /coded_by="NM_003660.4:195..3779"
                     /db_xref="CCDS:CCDS12758.1"
                     /db_xref="GeneID:8541"
                     /db_xref="HGNC:HGNC:9247"
                     /db_xref="MIM:603144"
ORIGIN      
        1 mmcevmptis edgrrgsalg pdeaggeler lmvtmltere rlletlreaq dglataqlrl
       61 relghekdsl qrqlsialpq efaaltkeln lcreqllere eeiaelkaer nntrlllehl
      121 eclvsrhers lrmtvvkrqa qspggvssev evlkalkslf ehhkaldekv rerlrmaler
      181 vavleeelel snqetlnlre qlsrrrsgle epgkdgdgqt langlgpggd snrrtaelee
      241 alerqraevc qlrerlavlc rqmsqleeel gtahrelgka eeansklqrd lkealaqred
      301 meerittlek rylsaqreat slhdandkle nelaskesly rqseeksrql aewlddakqk
      361 lqqtlqkaet lpeieaqlaq rvaalnkaee rhgnfeerlr qleaqleekn qelqrarqre
      421 kmnddhnkrl setvdkllse snerlqlhlk ermgaleekn slseeianmk klqdelllnk
      481 eqllaemerm qmeidqlrgr ppssysrslp gsalelrysq aptlpsgahl dpyvagsgra
      541 gkrgrwsgvk eepskdwers apagsipppf pgeldgsdee eaegmfgael lspsgqadvq
      601 tlaimlqeql eainkeikli qeeketteqr aeelesrvss sgldslgryr sscslppslt
      661 tstlaspspp ssghstprla ppsparegtd kanhvpkeea gaprgegpai pgdtppptpr
      721 sarlermtqa lalqagsled ggpprgsegt pdslhkapkk ksikssigrl fgkkekgrmg
      781 ppgrdsssla gtpsdetlat dplglakltg pgdkdrrnkr khelleeacr qglpfaawdg
      841 ptvvswlelw vgmpawyvaa cranvksgai manlsdteiq reigisnplh rlklrlaiqe
      901 mvsltspsap assrtstgnv wmtheemesl tattkpetke isweqilayg dmnhewvgnd
      961 wlpslglpqy rsyfmeslvd armldhlnkk elrgqlkmvd sfhrvslhyg imclkrlnyd
     1021 rkdlerrree sqtqirdvmv wsnervmgwv sglglkefat nltesgvhga llaldetfdy
     1081 sdlalllqip tqnaqarqll ekefsnlisl gtdrrldeds aksfsrspsw rkmfrekdlr
     1141 gvtpdsaeml ppnfrsaaag algspglplr klqpegqtsg ssradgvsvr tysc
//
