LOCUS       NM_002573               1054 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens platelet activating factor acetylhydrolase 1b
            catalytic subunit 3 (PAFAH1B3), transcript variant 2, mRNA.
ACCESSION   NM_002573
VERSION     NM_002573.4
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  (bases 1 to 1054)
  AUTHORS   Dong,C., Yao,J., Wu,Z., Hu,J., Sun,L., Wu,Z., Yan,J. and Yin,X.
  TITLE     PAFAH1B3 is a KLF9 target gene that promotes proliferation and
            metastasis in pancreatic cancer
  JOURNAL   Sci Rep 14 (1), 9196 (2024)
   PUBMED   38649699
  REMARK    GeneRIF: PAFAH1B3 is a KLF9 target gene that promotes proliferation
            and metastasis in pancreatic cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1054)
  AUTHORS   Jiang,W., Quan,R., Bhandari,A., Hirachan,S., Chen,C., Lv,S. and
            Zheng,C.
  TITLE     PAFAH1B3 Regulates Papillary Thyroid Carcinoma Cell Proliferation
            and Metastasis by Affecting the EMT
  JOURNAL   Curr Med Chem 31 (9), 1152-1164 (2024)
   PUBMED   37102492
  REMARK    GeneRIF: PAFAH1B3 Regulates Papillary Thyroid Carcinoma Cell
            Proliferation and Metastasis by Affecting the EMT.
REFERENCE   3  (bases 1 to 1054)
  AUTHORS   Gu,Z.Y., Tao,J., Cai,Y.F. and Wang,L.
  TITLE     [Correlation between PAFAH1B3 Expression Level and Risk of Disease
            Progression After Autologous Hematopoietic Stem Cell
            Transplantation in Multiple Myeloma Patients]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 31 (2), 448-454 (2023)
   PUBMED   37096518
  REMARK    GeneRIF: [Correlation between PAFAH1B3 Expression Level and Risk of
            Disease Progression After Autologous Hematopoietic Stem Cell
            Transplantation in Multiple Myeloma Patients].
REFERENCE   4  (bases 1 to 1054)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 1054)
  AUTHORS   Nothwang,H.G., Kim,H.G., Aoki,J., Geisterfer,M., Kubart,S.,
            Wegner,R.D., van Moers,A., Ashworth,L.K., Haaf,T., Bell,J.,
            Arai,H., Tommerup,N., Ropers,H.H. and Wirth,J.
  TITLE     Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion
            gene in a female with mental retardation, ataxia and atrophy of the
            brain
  JOURNAL   Hum Mol Genet 10 (8), 797-806 (2001)
   PUBMED   11285245
REFERENCE   6  (bases 1 to 1054)
  AUTHORS   Sweeney,K.J., Clark,G.D., Prokscha,A., Dobyns,W.B. and Eichele,G.
  TITLE     Lissencephaly associated mutations suggest a requirement for the
            PAFAH1B heterotrimeric complex in brain development
  JOURNAL   Mech Dev 92 (2), 263-271 (2000)
   PUBMED   10727864
REFERENCE   7  (bases 1 to 1054)
  AUTHORS   Manya,H., Aoki,J., Kato,H., Ishii,J., Hino,S., Arai,H. and Inoue,K.
  TITLE     Biochemical characterization of various catalytic complexes of the
            brain platelet-activating factor acetylhydrolase
  JOURNAL   J Biol Chem 274 (45), 31827-31832 (1999)
   PUBMED   10542206
REFERENCE   8  (bases 1 to 1054)
  AUTHORS   Moro,F., Arrigo,G., Fogli,A., Bernard,L. and Carrozzo,R.
  TITLE     The beta and gamma subunits of the human platelet-activating factor
            acetyl hydrolase isoform Ib (PAFAH1B2 and PAFAH1B3) map to
            chromosome 11q23 and 19q13.1, respectively
  JOURNAL   Genomics 51 (1), 157-159 (1998)
   PUBMED   9693049
REFERENCE   9  (bases 1 to 1054)
  AUTHORS   Adachi,H., Tsujimoto,M., Hattori,M., Arai,H. and Inoue,K.
  TITLE     Differential tissue distribution of the beta- and gamma-subunits of
            human cytosolic platelet-activating factor acetylhydrolase (isoform
            I)
  JOURNAL   Biochem Biophys Res Commun 233 (1), 10-13 (1997)
   PUBMED   9144386
REFERENCE   10 (bases 1 to 1054)
  AUTHORS   Adachi,H., Tsujimoto,M., Hattori,M., Arai,H. and Inoue,K.
  TITLE     cDNA cloning of human cytosolic platelet-activating factor
            acetylhydrolase gamma-subunit and its mRNA expression in human
            tissues
  JOURNAL   Biochem Biophys Res Commun 214 (1), 180-187 (1995)
   PUBMED   7669037
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB216829.1 and BC003016.1.
            
            On Jun 2, 2019 this sequence version replaced NM_002573.3.
            
            Summary: This gene encodes an acetylhydrolase that catalyzes the
            removal of an acetyl group from the glycerol backbone of
            platelet-activating factor. The encoded enzyme is a subunit of the
            platelet-activating factor acetylhydrolase isoform 1B complex,
            which consists of the catalytic beta and gamma subunits and the
            regulatory alpha subunit. This complex functions in brain
            development. A translocation between this gene on chromosome 19 and
            the CDC-like kinase 2 gene on chromosome 1 has been observed, and
            was associated with cognitive disability, ataxia, and atrophy of
            the brain. Alternatively spliced transcript variants have been
            described. [provided by RefSeq, Mar 2009].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 3 encode the same protein.
            
            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 :: BC007863.2, D63391.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262890.8/ ENSP00000262890.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-53                CB216829.1         21-73
            54-1054             BC003016.1         1-1001
FEATURES             Location/Qualifiers
     source          1..1054
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..1054
                     /gene="PAFAH1B3"
                     /gene_synonym="PAFAHG"
                     /note="platelet activating factor acetylhydrolase 1b
                     catalytic subunit 3"
                     /db_xref="GeneID:5050"
                     /db_xref="HGNC:HGNC:8576"
                     /db_xref="MIM:603074"
     exon            1..393
                     /gene="PAFAH1B3"
                     /gene_synonym="PAFAHG"
                     /inference="alignment:Splign:2.1.0"
     CDS             316..1011
                     /gene="PAFAH1B3"
                     /gene_synonym="PAFAHG"
                     /EC_number="3.1.1.47"
                     /note="PAF-AH1b alpha 1 subunit; platelet-activating
                     factor acetylhydrolase IB subunit gamma; PAFAH subunit
                     gamma; PAF-AH subunit gamma; PAF-AH 29 kDa subunit; PAF
                     acetylhydrolase 29 kDa subunit; platelet-activating factor
                     acetylhydrolase 1b, catalytic subunit 3 (29kDa);
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="platelet-activating factor acetylhydrolase IB
                     subunit alpha1"
                     /protein_id="NP_002564.1"
                     /db_xref="CCDS:CCDS12602.1"
                     /db_xref="GeneID:5050"
                     /db_xref="HGNC:HGNC:8576"
                     /db_xref="MIM:603074"
                     /translation="MSGEENPASKPTPVQDVQGDGRWMSLHHRFVADSKDKEPEVVFI
                     GDSLVQLMHQCEIWRELFSPLHALNFGIGGDGTQHVLWRLENGELEHIRPKIVVVWVG
                     TNNHGHTAEQVTGGIKAIVQLVNERQPQARVVVLGLLPRGQHPNPLREKNRQVNELVR
                     AALAGHPRAHFLDADPGFVHSDGTISHHDMYDYLHLSRLGYTPVCRALHSLLLRLLAQ
                     DQGQGAPLLEPAP"
     exon            394..483
                     /gene="PAFAH1B3"
                     /gene_synonym="PAFAHG"
                     /inference="alignment:Splign:2.1.0"
     exon            484..600
                     /gene="PAFAH1B3"
                     /gene_synonym="PAFAHG"
                     /inference="alignment:Splign:2.1.0"
     exon            601..723
                     /gene="PAFAH1B3"
                     /gene_synonym="PAFAHG"
                     /inference="alignment:Splign:2.1.0"
     exon            724..1054
                     /gene="PAFAH1B3"
                     /gene_synonym="PAFAHG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1035..1040
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAFAH1B3"
                     /gene_synonym="PAFAHG"
                     /note="hexamer: ATTAAA"
     polyA_site      1054
                     /gene="PAFAH1B3"
                     /gene_synonym="PAFAHG"
                     /note="major polyA site"
ORIGIN      
        1 ctccctcccc ccaccccgtg ccgggtgcgc ggcctgggag tcagcggccc gagcgggaag
       61 cgccgggcga gcccactgtg cggccgtcgt gggggaagcg aaggttcctg attccaccta
      121 cctcctaagt gaaggcttcc gtccctggag aggaggcggc gccctgtatc ggccttcgtc
      181 ctccgcgggt gtgctagcgt tgggacggtc ctttgttgcc gcgaggggta ggagtgggcg
      241 tggcggagcc agctccgttc ggaacactcc cgggccgacc cgactcgctc atcctgcagg
      301 agctgcggcg ccaagatgag tggagaggag aacccagcca gcaagcccac gccggtgcag
      361 gacgtacagg gcgacgggcg ctggatgtcc ctgcaccatc ggttcgtggc tgacagcaaa
      421 gataaggaac ccgaagtcgt cttcatcggg gactccttgg tccagctcat gcaccagtgc
      481 gagatctggc gcgagctctt ctctcctctg catgcactta actttggcat tggtggtgac
      541 ggcacacagc atgtactgtg gcggctggag aatggggagc tggaacacat ccggcccaag
      601 attgtggtgg tctgggtggg caccaacaac cacggacaca cagcagagca ggtgactggt
      661 ggcatcaagg ccattgtgca actggtgaat gagcgacagc cccaggcccg ggttgtggtg
      721 ctgggcctgc ttccgcgagg ccaacatccc aacccacttc gggagaagaa ccgacaggtg
      781 aacgagctgg tacgggcggc actggctggc caccctcggg cccacttcct agatgccgac
      841 cctggctttg tgcactcaga tggcaccatc agccatcatg acatgtatga ttacctgcat
      901 ctgagccgcc tgggctacac acctgtttgc cgggctctgc actccctgct tctgcgtctg
      961 ctggcccaag accagggcca aggtgctccc ctgctggagc ccgcacccta agcatcctgc
     1021 tgccttccca caacattaaa ctctccttcc tcag
//
