LOCUS       NM_000430               5589 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens platelet activating factor acetylhydrolase 1b
            regulatory subunit 1 (PAFAH1B1), mRNA.
ACCESSION   NM_000430
VERSION     NM_000430.4
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 5589)
  AUTHORS   Feng,W.X., Wang,X.F., Wu,Y., Li,X.M., Chen,S.H., Wang,X.H.,
            Wang,Z.H., Fang,F. and Chen,C.H.
  TITLE     Clinical analysis of PAFAH1B1 gene variants in pediatric patients
            with epilepsy
  JOURNAL   Seizure 117, 98-104 (2024)
   PUBMED   38364333
  REMARK    GeneRIF: Clinical analysis of PAFAH1B1 gene variants in pediatric
            patients with epilepsy.
REFERENCE   2  (bases 1 to 5589)
  AUTHORS   Singh,K., Lau,C.K., Manigrasso,G., Gama,J.B., Gassmann,R. and
            Carter,A.P.
  TITLE     Molecular mechanism of dynein-dynactin complex assembly by LIS1
  JOURNAL   Science 383 (6690), eadk8544 (2024)
   PUBMED   38547289
  REMARK    GeneRIF: Molecular mechanism of dynein-dynactin complex assembly by
            LIS1.
REFERENCE   3  (bases 1 to 5589)
  AUTHORS   Mitevska,O., Lam,P.W., Daly,L. and Auckland,P.
  TITLE     Lis1-dynein drives corona compaction and limits erroneous
            microtubule attachment at kinetochores
  JOURNAL   J Cell Sci 136 (5) (2023)
   PUBMED   36274587
  REMARK    GeneRIF: Lis1-dynein drives corona compaction and limits erroneous
            microtubule attachment at kinetochores.
REFERENCE   4  (bases 1 to 5589)
  AUTHORS   Feng,W.M., Gong,H., Wang,Y.C., Wang,Y., Xue,T., Zhang,T. and Cui,G.
  TITLE     NudCD1 as a prognostic marker in colorectal cancer and its role in
            the upregulation of cellular spindle assembly checkpoint genes and
            LIS1 pathways
  JOURNAL   BMC Cancer 22 (1), 981 (2022)
   PUBMED   36104662
  REMARK    GeneRIF: NudCD1 as a prognostic marker in colorectal cancer and its
            role in the upregulation of cellular spindle assembly checkpoint
            genes and LIS1 pathways.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5589)
  AUTHORS   Zhang,Y.L., Jing,X.Y., Zhen,L., Pan,M., Han,J. and Li,D.Z.
  TITLE     Prenatal diagnosis of Miller-Dieker syndrome/PAFAH1B1-related
            lissencephaly: Ultrasonography and genetically investigative
            results
  JOURNAL   Eur J Obstet Gynecol Reprod Biol 274, 28-32 (2022)
   PUBMED   35567955
  REMARK    GeneRIF: Prenatal diagnosis of Miller-Dieker
            syndrome/PAFAH1B1-related lissencephaly: Ultrasonography and
            genetically investigative results.
REFERENCE   6  (bases 1 to 5589)
  AUTHORS   Mizuguchi,M., Takashima,S., Kakita,A., Yamada,M. and Ikeda,K.
  TITLE     Lissencephaly gene product. Localization in the central nervous
            system and loss of immunoreactivity in Miller-Dieker syndrome
  JOURNAL   Am J Pathol 147 (4), 1142-1151 (1995)
   PUBMED   7573359
REFERENCE   7  (bases 1 to 5589)
  AUTHORS   Golsteyn,R.M., Mundt,K.E., Fry,A.M. and Nigg,E.A.
  TITLE     Cell cycle regulation of the activity and subcellular localization
            of Plk1, a human protein kinase implicated in mitotic spindle
            function
  JOURNAL   J Cell Biol 129 (6), 1617-1628 (1995)
   PUBMED   7790358
REFERENCE   8  (bases 1 to 5589)
  AUTHORS   Hattori,M., Adachi,H., Tsujimoto,M., Arai,H. and Inoue,K.
  TITLE     Miller-Dieker lissencephaly gene encodes a subunit of brain
            platelet-activating factor acetylhydrolase [corrected]
  JOURNAL   Nature 370 (6486), 216-218 (1994)
   PUBMED   8028668
  REMARK    Erratum:[Nature 1994 Aug 4;370(6488):391]
REFERENCE   9  (bases 1 to 5589)
  AUTHORS   Reiner,O., Carrozzo,R., Shen,Y., Wehnert,M., Faustinella,F.,
            Dobyns,W.B., Caskey,C.T. and Ledbetter,D.H.
  TITLE     Isolation of a Miller-Dieker lissencephaly gene containing G
            protein beta-subunit-like repeats
  JOURNAL   Nature 364 (6439), 717-721 (1993)
   PUBMED   8355785
REFERENCE   10 (bases 1 to 5589)
  AUTHORS   Brock,S., Dobyns,W.B. and Jansen,A.
  TITLE     PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301752
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC015799.23 and AC005696.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000430.3.
            
            Summary: This locus was identified as encoding a gene that when
            mutated or lost caused the lissencephaly associated with
            Miller-Dieker lissencephaly syndrome. This gene encodes the
            non-catalytic alpha subunit of the intracellular Ib isoform of
            platelet-activating factor acteylhydrolase, a heterotrimeric enzyme
            that specifically catalyzes the removal of the acetyl group at the
            SN-2 position of platelet-activating factor (identified as
            1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other
            isoforms of intracellular platelet-activating factor
            acetylhydrolase exist: one composed of multiple subunits, the
            other, a single subunit. In addition, a single-subunit isoform of
            this enzyme is found in serum. [provided by RefSeq, Apr 2009].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR1803614.179163.1,
                                           SRR1660809.209848.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000397195.10/ ENSP00000380378.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-353               AC015799.23        48129-48481         c
            354-575             AC015799.23        3815-4036           c
            576-660             AC005696.1         40697-40781
            661-735             AC005696.1         41341-41415
            736-942             AC005696.1         42317-42523
            943-1111            AC005696.1         45488-45656
            1112-1214           AC005696.1         47980-48082
            1215-1443           AC005696.1         49385-49613
            1444-1545           AC005696.1         51830-51931
            1546-1702           AC005696.1         55489-55645
            1703-5589           AC005696.1         57054-60940
FEATURES             Location/Qualifiers
     source          1..5589
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.3"
     gene            1..5589
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /note="platelet activating factor acetylhydrolase 1b
                     regulatory subunit 1"
                     /db_xref="GeneID:5048"
                     /db_xref="HGNC:HGNC:8574"
                     /db_xref="MIM:601545"
     exon            1..353
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /inference="alignment:Splign:2.1.0"
     exon            354..575
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /inference="alignment:Splign:2.1.0"
     CDS             544..1776
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /EC_number="3.1.1.47"
                     /note="lissencephaly 1 protein; platelet-activating factor
                     acetylhydrolase 1b, regulatory subunit 1 (45kDa)"
                     /codon_start=1
                     /product="platelet-activating factor acetylhydrolase IB
                     subunit beta"
                     /protein_id="NP_000421.1"
                     /db_xref="CCDS:CCDS32528.1"
                     /db_xref="GeneID:5048"
                     /db_xref="HGNC:HGNC:8574"
                     /db_xref="MIM:601545"
                     /translation="MVLSQRQRDELNRAIADYLRSNGYEEAYSVFKKEAELDVNEELD
                     KKYAGLLEKKWTSVIRLQKKVMELESKLNEAKEEFTSGGPLGQKRDPKEWIPRPPEKY
                     ALSGHRSPVTRVIFHPVFSVMVSASEDATIKVWDYETGDFERTLKGHTDSVQDISFDH
                     SGKLLASCSADMTIKLWDFQGFECIRTMHGHDHNVSSVAIMPNGDHIVSASRDKTIKM
                     WEVQTGYCVKTFTGHREWVRMVRPNQDGTLIASCSNDQTVRVWVVATKECKAELREHE
                     HVVECISWAPESSYSSISEATGSETKKSGKPGPFLLSGSRDKTIKMWDVSTGMCLMTL
                     VGHDNWVRGVLFHSGGKFILSCADDKTLRVWDYKNKRCMKTLNAHEHFVTSLDFHKTA
                     PYVVTGSVDQTVKVWECR"
     exon            576..660
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /inference="alignment:Splign:2.1.0"
     exon            661..735
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /inference="alignment:Splign:2.1.0"
     exon            736..942
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /inference="alignment:Splign:2.1.0"
     exon            943..1111
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1214
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..1443
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /inference="alignment:Splign:2.1.0"
     exon            1444..1545
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /inference="alignment:Splign:2.1.0"
     exon            1546..1702
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /inference="alignment:Splign:2.1.0"
     exon            1703..5589
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5570..5575
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /note="hexamer: ATTAAA"
     polyA_site      5589
                     /gene="PAFAH1B1"
                     /gene_synonym="LIS1; LIS2; MDCR; MDS; NudF; PAFAH"
                     /note="major polyA site"
ORIGIN      
        1 agacggagct ggagcggcgg ggcggcggcg gagtccggcg gccgggagag cgagtgagcg
       61 agcggaggag cagcgacacg ggagtctagg gagcgagaag gagaaggagg ggagcgctcg
      121 ggcgcgagcg agagaaaccg cgagcgccga gcttggactc gagccccgga acggctgagg
      181 agcccgcccg ctcccctccc ctccccctcc ccgggcccgg gcccagcgcg ccatcctccc
      241 ccctccttcc ctccctccct ccttcctccc tcccctctcc ctccccctcc cccgccggtg
      301 gatgggagtg aaggacggaa gaggccctgc ggaggcggcg gtgcagcgct ccggtggaat
      361 gaatcttact tgttgaatat cttctggtta ctagttggat tcatttgtga aagaatcatt
      421 ttcccctgtg tggaagacac ttagtggcat atttaaatta taagtccacg gatcaaaaag
      481 ctttttgatt tcccaaagga gggacatacc actatatcag ataagcttga cattacagcc
      541 aagatggtgc tgtcccagag acaacgagat gaactaaatc gagctatagc agattatctt
      601 cgttcaaatg gctatgaaga ggcatattca gtttttaaaa aggaagctga attagatgtg
      661 aatgaagaat tagataaaaa gtatgctggt cttttggaaa aaaaatggac atctgttatt
      721 agattacaaa agaaggttat ggaattagaa tcaaagctaa atgaagcaaa agaagaattt
      781 acgtcaggtg gacctcttgg tcagaaacga gacccaaaag aatggattcc ccgtccgcca
      841 gaaaaatatg cattgagtgg tcacaggagt ccagtcactc gagtcatttt ccatcctgtg
      901 ttcagtgtta tggtctctgc ttcagaggat gctacaatta aggtgtggga ttatgagact
      961 ggagattttg aacgaactct taaaggacat acagactctg tacaggacat ttcattcgac
     1021 cacagcggca agcttctggc ttcctgttct gcagatatga ccattaaact atgggatttt
     1081 cagggctttg aatgcatcag aaccatgcac ggccatgacc acaatgtttc ttcagtagcc
     1141 atcatgccca atggagatca tatagtgtct gcctcaaggg ataaaactat aaaaatgtgg
     1201 gaagtgcaaa ctggctactg tgtgaagaca ttcacaggac acagagaatg ggtacgtatg
     1261 gtacggccaa atcaagatgg cactctgata gccagctgtt ccaatgacca gactgtgcgt
     1321 gtatgggtcg tagcaacaaa ggaatgcaag gctgagctcc gagagcatga gcatgtggta
     1381 gaatgcattt cctgggctcc agaaagctca tattcctcca tctctgaagc aacaggatct
     1441 gagactaaaa aaagtggtaa acctgggcca ttcttgctgt ctggatccag agacaagact
     1501 attaagatgt gggatgtcag tactggcatg tgccttatga ccctcgtggg tcatgataac
     1561 tgggtacgtg gagttctgtt ccattctggg gggaagttta ttttgagttg tgctgatgac
     1621 aagaccctac gcgtatggga ttacaagaac aagcgatgca tgaagaccct caatgcgcat
     1681 gaacactttg ttacctcctt ggatttccac aagacggcac cctatgtcgt cactggcagc
     1741 gtagatcaaa cagtaaaagt gtgggagtgc cgttgattgt gtctccttcg gcccctcctc
     1801 cctcttttcc tctggatgca ctctgatgat accatggtta ccccattgag ctctgtttaa
     1861 ataaatattg tcctttcatg taaattattc tggatgtaga ttgagcttat taaatgttac
     1921 acacaaagta ttcatgcatg gtgaatccaa attgtatact gtaaatttac atacgttgtc
     1981 tagaagtacc atagggttta aaaacctggg ctggcattgg tcacaccagg cctaagaagg
     2041 cagaagttga atcaattgaa ctagggcact aaactgaata gttgacagtg tcattttatg
     2101 ttggattatt aattcctgtt tttctttctg ctatctgttg gtgcctgact tgatggcctc
     2161 atttggggaa aagtggtggt tattagggct ttttctgaaa tgtgtatcta tgtaacatca
     2221 cttaagtgtg cttaataaat cttctgtaag gattttagat gataaggcta caattcagaa
     2281 tcttctgaac catctatgta atgaatgggg attatacatt ggaatttttg tcatgacaca
     2341 tttgccaaat cagtaggata tatttgtttt ggcagcctat cacgcagagg ctagtggtat
     2401 atttatgtaa gaaaatgact gtaaatctca agaaaaatct cagcagctaa tagcaactca
     2461 tttatttcat tttggtctta atgctttgta aacaggtcaa aaaatactgt catactctaa
     2521 gcttctattt tccacactgg acatacttct agttgtattc tccatactat tagactgtgt
     2581 agtgatgtga cttccaagta gaatttaatc tccccattga gtgtgtcatg gtacaaatca
     2641 ctattcgttt ttggtgtttt ttagggatgt gcaatgtgca ttacataatg acagaaatac
     2701 tgagaaggtt ctgtgtgccc atttgaaagg agtgggagga atacagcagt ttgtttttca
     2761 acatgaatct gatattgatt taaactgtgt ttcacttaca agttttaaaa aaatgacagg
     2821 gtttaatgga gcgtgcataa aaatgtactg ttttcacctt ttgtttatat gtaaatgttt
     2881 gtaagtatat gggcctatct gtaagtggat aagtctgtat gtgtgtatca tacacatcaa
     2941 cctccatgtc cttagtcctg ggtttttgaa aaagtgctaa aacggacaag tagaataaat
     3001 gttgctgtgg aatgccatgc tttagaacaa accctttttg atcttaatgc ttctgaaaac
     3061 taggtctgac tctggggatt tttttccagc cgaaggaaaa tcacttccgt tatgtccccc
     3121 tctaatttag ccgctcgaca ttttacacaa cccggatatg ttgtatattt tgacccaaag
     3181 ttacaggtag gtttaagaga atttttagcc atgacttttg gagcactatt ccattgtcag
     3241 ttattaataa agaattccat tgcttagcta accaacaggt tttttttgtt tccaagagag
     3301 ttatttgaaa agttaacaga acaatgagat aacagtgaca gtttaacaaa gataaaattc
     3361 tgaactgcgt tttattcatt tgtgtactat gtgatttttt aaatgtcccc tttagtattt
     3421 aatggaaaat tggttcctgc aaaagacaaa gggtgagagt tagcgtcctg tagatacaca
     3481 cagagactag gccgtatatt aactagaagc agctttatgt ctagcttgtg tctttttgtt
     3541 tgtttgcttg tttgttttta gattcctgag agatgtctct ggaagggaaa gttttgagaa
     3601 ctaatggcta tttttgagga caaaaattac atcttaagct aattccttaa atacatacag
     3661 taggtgaatt ttcaggacaa tattgcctca caaccctgct tacattgaaa agtctttttc
     3721 ccttagctct tctgactgga tttttctaca aaaactatgg aaaatatctt tgttcttgtt
     3781 tgctgctatt ttctgtccta ttttgagaaa tataaataca tagaaatggt gcatcttaac
     3841 atttgtttgt acatgtataa atgtcttgta ttttaattca tttttagcat gaattgttta
     3901 agggtaagcc acaacatcta gaaatcactc atagatattg aacaataaag gagaatggta
     3961 ccgatgcagg aggaagcaag cgtgtcttcc cctgcagcac acagcgactt gcgttgacaa
     4021 aggaggagga aacgattact ctgtaaacaa agttatcctt acttgggaga ttgccacagc
     4081 ctgctgctga gttgagttac cagacatcct ccatgtgaga agcagcgaac attgaatctc
     4141 agggatggcc cacaactggg tccacatgta atgagccctg tttaataacg aaggggtggg
     4201 ggagagcagt ccgtctacaa cctggaatca gatttgcaaa atttcctgca ctgctgtctg
     4261 acactgtcct gttgatgccc tttctgactg tgttctctgt tttctctgtc tgctgtctaa
     4321 ccctgtgcct tgcctgggat aaggacaatg atgaggttac tggtttggat tgtaagtaga
     4381 ggacttttat taattggttt agaggttcac tgctgctttg tcactttctc aatcaaattg
     4441 gccacttaag aaataaagag ctggtagaat tgcatcctca gatgattatt gactgtgtgt
     4501 gtgtgtgaaa acagacattc cagtgccacc caaatatata tctgtaacgt gcccaagaaa
     4561 tcctagctgc gctcttgaga gtgcatgcca tggagactgg tttagacacc gcgtggagcc
     4621 tagttgcctg ttgtcacggc atcttgcact ttaggagact aagaccgtcc tggttcgtct
     4681 gtgtgtggtg tgaccaatgg tgtgcccaga gcactactct caaaatcact agtgttagca
     4741 agtcgtcccg ggctggggag cgttcgccgt agtctttgga agctttggct ttagatttac
     4801 caagccccgc ctccccgctg ccagtgccct gctctcccgt tcgcctcttt ctgtttctgt
     4861 gtgaactttc ccggtaatat cactcgttaa ataggttttc tttaaactta attaaagaaa
     4921 aactatttaa aggtaaagga tattttgttg acatcggtgg ctcgatcatc cttaagcaac
     4981 tgaagttaaa attgttgaag gaaaaggcac ttaaattggt tactttcatg tccagctgta
     5041 tataagtcca gtgtgttcat ctagatgacg caaagaatct cctggtagag aagcgacatg
     5101 taaaaaactg gtggaaaaag gttttggatt ttttttccag tggggtgggg ggagggcaag
     5161 ctggatttac aggtcacggc tggactgaat gggccttttt atcttcccac tgtatcatgg
     5221 aagtagctgc ttgcttgtac tgtccatcct tcaggcatcc ctaaagctca ctctgaagat
     5281 gttagagaca aacacaaact cttcgagtta aagttgatcc tgacactgac atgaaggcaa
     5341 gccttgattt cgtatgaacg ttgctgaagt ggtaattgag gaaaacagtt ccccagattg
     5401 ttaagagttc actgaagata ttgacacaat tttaaaaaat cagtaaagga atgtatataa
     5461 tattgctctc gtgttttaca gtaagatttg ttgctctcag actgtgtaaa acaaaattta
     5521 ttcatgtttt ctgcatatta aaaaatctta ttgtaccaac tggtaaacta ttaaatgcct
     5581 ataaaacta
//
