LOCUS       NM_020715               6615 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens pleckstrin homology, MyTH4 and FERM domain containing
            H1 (PLEKHH1), mRNA.
ACCESSION   NM_020715 XM_375087
VERSION     NM_020715.3
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 6615)
  AUTHORS   Demirkan,A., van Duijn,C.M., Ugocsai,P., Isaacs,A.,
            Pramstaller,P.P., Liebisch,G., Wilson,J.F., Johansson,A., Rudan,I.,
            Aulchenko,Y.S., Kirichenko,A.V., Janssens,A.C., Jansen,R.C.,
            Gnewuch,C., Domingues,F.S., Pattaro,C., Wild,S.H., Jonasson,I.,
            Polasek,O., Zorkoltseva,I.V., Hofman,A., Karssen,L.C.,
            Struchalin,M., Floyd,J., Igl,W., Biloglav,Z., Broer,L., Pfeufer,A.,
            Pichler,I., Campbell,S., Zaboli,G., Kolcic,I., Rivadeneira,F.,
            Huffman,J., Hastie,N.D., Uitterlinden,A., Franke,L., Franklin,C.S.,
            Vitart,V., Nelson,C.P., Preuss,M., Bis,J.C., O'Donnell,C.J.,
            Franceschini,N., Witteman,J.C., Axenovich,T., Oostra,B.A.,
            Meitinger,T., Hicks,A.A., Hayward,C., Wright,A.F., Gyllensten,U.,
            Campbell,H. and Schmitz,G.
  CONSRTM   DIAGRAM Consortium; CARDIoGRAM Consortium; CHARGE Consortium;
            EUROSPAN consortium
  TITLE     Genome-wide association study identifies novel loci associated with
            circulating phospho- and sphingolipid concentrations
  JOURNAL   PLoS Genet 8 (2), e1002490 (2012)
   PUBMED   22359512
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL132640.4, DA056171.1, AB033026.1 and AI792090.1.
            
            On May 17, 2019 this sequence version replaced NM_020715.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.257068.1,
                                           SRR1803616.39910.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000329153.10/ ENSP00000330278.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AL132640.4         110018-110018       c
            2-25                DA056171.1         93-116
            26-1180             AB033026.1         1-1155
            1181-1383           AI792090.1         210-412
            1384-4087           AB033026.1         1359-4062
            4088-6541           AL132640.4         53770-56223         c
            6542-6615           AL132640.4         53696-53769         c
FEATURES             Location/Qualifiers
     source          1..6615
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.1"
     gene            1..6615
                     /gene="PLEKHH1"
                     /note="pleckstrin homology, MyTH4 and FERM domain
                     containing H1"
                     /db_xref="GeneID:57475"
                     /db_xref="HGNC:HGNC:17733"
     exon            1..109
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            110..269
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             144..4238
                     /gene="PLEKHH1"
                     /note="PH domain-containing family H member 1; pleckstrin
                     homology domain containing, family H (with MyTH4 domain)
                     member 1"
                     /codon_start=1
                     /product="pleckstrin homology domain-containing family H
                     member 1"
                     /protein_id="NP_065766.1"
                     /db_xref="CCDS:CCDS45128.1"
                     /db_xref="GeneID:57475"
                     /db_xref="HGNC:HGNC:17733"
                     /translation="MAELKVEAPASVDWQKRCLTLETQLFRFRLQASKIRELLADKMQ
                     ELEQRLLEAEQRAENAETQVGVMEEKVKLSNLKNVDSEGSLHRKYQELLKAIKGKDEL
                     ISQLEAQLEKQKQMRAEEAKTVQEKAAKIKEWVTLKLAKLEMENQHLKSHNQRLVEQV
                     GSLQDALEAIQIAPSRKLLVPPYGAAEQDSVPSEPGIQPMGQDSGSQAQGLKAAVLAP
                     SPGALQSKDSVSEAASPLEDSSSSTVHSGETVEAKPLQPHLGRESPPHQPCMKLLTFR
                     CSSASWGEGLVTAQRGMLPGTKTSAREGGPGSSLTLPKVRAPGTPRDSIQLAKRHHSQ
                     PQVGHGHFGRVVNIETEAFSALHPSGLPELESRARSREEPEKMEMEEPPPAGKNEERE
                     SPKALGAELEEVELGNKPPTPPLHQFSSWESRIYAVATSGMRLSDMSPRSNTACCASS
                     PPALVSPGSFSGLVYKNVTVPVYTALKGRATQISNMPFMDESSGSDDDCSSQASFRIS
                     VPSSESRKTSGLGSPRAIKRGVSMSSLSSEGDYAIPPDACSLDSDYSEPEHKLQRTSS
                     YSTDGLGLGGESLEKSGYLLKMGSQVKTWKRRWFVLRQGQIMYYKSPSDVIRKPQGQV
                     DLNSRCQIVRGEGSQTFQLISEKKTYYLTADSPSLLEEWIRVLQSLLKVQATGPPALL
                     RGGTKPTVKGWLTKVKHGHSKVVWCALVGKIFYYYRSHEDKRPLGCLPVRDAHIEEVD
                     RSCDSDEDYEAGGTRRLLSSHCTLVIHPTEHSPTYLLIGTKHEKDTWLYHLTVAAGGS
                     SAKVGTAYEQLIGKLMDGEGDPDSPLWRHPMLCYSKDGLYASLTTLPSEALQTEALKL
                     FKSCQLFINVPVEAASVDYHVSLAQTALQVCLVHPELQSEIYCQLMKQTSCRPPQKYS
                     LMQCWQLLALCAPLFLPQHHFLWYVKQQLQRHADPRSETGQYATYCQRAVERTLRTGE
                     REARPSRMEVVSILLRNPFHHSLPFSIPVHFTNGTYHVVGFDGSSTVDEFLQRLNQEI
                     GMRKPSHSGFALFTDDPSGRDLEHCLQGSVKICDAISKWEQAMKELHPGKSEGGTRVV
                     KLMYKNRLYFRSQVKGETDRERLLLASQTSREIVAGRFPINKELALEMAALMAQVEYG
                     DLEKPALPGPGGTSPAKAQHLLQQVLDRFHPRRYRHGAPAEQLRHLADMLTTKWATLQ
                     GCSPPECIRIYLTVARKWPFFGAKLFAAQPAQLSSKENALVWIAVNEDGVSILDHNTM
                     QVHITYPYSSVTTFGGCRDDFMLVIRSIPDKSSGKSHIEKLIFRMAAPKIAEATFIMA
                     SYMNHCTTTVNPPTNPPGACQLWELDGRQFFSSVSCATKGPTLL"
     exon            270..332
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            333..482
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            483..566
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            567..648
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            649..1406
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1407..1485
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1486..1577
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1578..1728
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1729..1871
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1872..1982
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1983..2069
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            2070..2231
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            2232..2312
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            2313..2495
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            2496..2604
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            2605..2717
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            2718..2894
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            2895..2992
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            2993..3170
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            3171..3326
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            3327..3427
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            3428..3569
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            3570..3712
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            3713..3842
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            3843..3929
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            3930..4076
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     exon            4077..6615
                     /gene="PLEKHH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6510..6515
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLEKHH1"
                     /note="hexamer: AATAAA"
     polyA_site      6537
                     /gene="PLEKHH1"
                     /note="major polyA site"
     regulatory      6579..6584
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLEKHH1"
                     /note="hexamer: AATAAG"
     polyA_site      6615
                     /gene="PLEKHH1"
ORIGIN      
        1 ggcggcagcc cgggactccg gcgagagcga cgcaaggtcg gctgcggcgg cggcccgagg
       61 gcgcccgtgt gcccagtgcg cggcggggac ggccgcgagc tcgctggagg gctccccaga
      121 ataatccaga agtcgattcc atcatggcag aactcaaggt ggaggcgccg gccagcgtag
      181 actggcagaa acgctgcctg accctggaaa ctcagctttt ccggttccgc ctacaggcca
      241 gcaagataag ggagctgctg gctgacaaga tgcaggagct ggagcagagg ctgctggagg
      301 cagagcagag agcagagaac gctgagaccc aggtgggtgt catggaagag aaggtaaaac
      361 tatccaatct gaagaatgtg gactctgagg ggagcctgca ccggaaatac caagaattgc
      421 tgaaagccat aaagggcaaa gatgagctca tcagccagct agaggctcag ctggagaagc
      481 agaagcagat gagggcagag gaagcaaaaa ctgttcaaga aaaagctgca aagatcaagg
      541 aatgggtgac actcaagttg gcaaagcttg agatggagaa tcagcatctg aaaagccata
      601 atcagcgcct ggtggagcag gtgggatccc ttcaagatgc gctagaagct attcagatag
      661 ctccttcacg gaagctgctg gtgcccccct acggagctgc agagcaggat tctgtccctt
      721 cagagccggg aatccagcct atgggccagg acagtggctc ccaggcccag ggtctgaagg
      781 cagctgtgct tgcaccttcc ccaggtgccc tgcagagcaa ggactctgtt tctgaagcag
      841 caagcccctt ggaggattct agttccagca cggtccattc tggggaaaca gtagaggcca
      901 agccccttca acctcatctg ggaagagaga gccctcccca ccagccatgc atgaagcttc
      961 ttaccttcag atgtagttca gcttcctggg gtgagggtct ggttactgct cagagaggga
     1021 tgctccctgg gacaaagacc tctgccaggg aaggtggtcc tggcagcagt ctgaccctac
     1081 caaaggtgcg ggctcctggc accccgcggg acagcatcca gttggccaaa aggcaccaca
     1141 gccagcccca ggtgggccat gggcactttg gccgtgtggt gaacattgag actgaggcct
     1201 tctcagccct ccacccctct ggccttcctg agctggagtc ccgagctagg tcccgggagg
     1261 aaccagagaa gatggagatg gaggagccac ccccagcagg gaagaatgag gaaagagaga
     1321 gcccaaaggc ccttggagct gagctggagg aagtggagct gggtaacaag ccacctacac
     1381 ccccgctgca ccagttttca tcctgggaga gccggatcta tgctgtggcc acatcgggca
     1441 tgcggctctc agatatgtct cccagaagta atactgcatg ctgcgcttca agccctcctg
     1501 cccttgtttc ccctgggtct ttctctggcc tggtctacaa gaatgtcact gtgcctgtct
     1561 acacagcact gaaggggaga gctacacaga tcagcaacat gccctttatg gacgagtcct
     1621 ctgggtctga cgatgactgc agctctcagg cgagtttccg aatctcggtc ccctcctctg
     1681 agtccaggaa gaccagcgga ctaggcagcc cccgggccat caagagaggc gtctccatgt
     1741 cctcactgag ctccgagggt gactacgcca tccccccgga cgcctgctca ctggacagtg
     1801 actactcaga gcctgagcac aaactgcagc gcacctcatc ctactccacc gacgggctgg
     1861 gcctgggcgg ggagtcactg gagaagtcgg gctacctgct gaaaatgggg agccaggtga
     1921 agacgtggaa gaggcgctgg tttgtcctga gacagggaca gattatgtac tacaagtccc
     1981 cgagtgatgt catccggaaa cctcaaggcc aagtggatct gaactcccgc tgccaaattg
     2041 ttcgagggga gggttcacag acgtttcagc tcatctctga gaagaaaacc tactacctga
     2101 cggccgattc acccagcctg ctggaggagt ggatccgagt actccagagc ctgctgaagg
     2161 tgcaggccac cgggcctcca gctctgcttc ggggtggcac caagcccacc gtgaagggct
     2221 ggctgaccaa ggtaaagcat ggccactcca aggtggtctg gtgcgctctt gttgggaaaa
     2281 tcttctacta ctatcggagc catgaggaca agcgacccct gggctgcctg cctgtgcggg
     2341 atgcgcacat agaggaagta gatcgatcct gtgactcaga cgaggactat gaggctggag
     2401 gaaccagacg gttgctttcc tcccactgca ccctggtgat ccaccccaca gagcacagcc
     2461 ccacctacct cctcattggc accaagcatg aaaaggatac gtggctctac cacctcacag
     2521 tggctgcagg tggcagcagt gccaaggtgg gcactgccta tgagcagctc attggaaaac
     2581 tgatggatgg tgaaggagat ccagattcgc cgctctggag gcaccccatg ctgtgctaca
     2641 gcaaagacgg cctatacgcc tccctcacca ccctgccctc tgaggccttg cagacggagg
     2701 ccctcaagct cttcaagtcc tgccagctct tcatcaacgt gccggtggaa gctgcctcgg
     2761 tggactacca tgtgtccctg gcccagaccg cactgcaggt ctgcctggtt caccccgagc
     2821 tgcagagtga gatctactgc caactcatga agcagaccag ctgccgccca cctcagaagt
     2881 actccctcat gcagtgctgg cagctcctcg ctctgtgtgc tccacttttc ctgcctcagc
     2941 atcacttcct ctggtatgtc aagcagcagc tccaacgcca tgcagatccc agaagtgaaa
     3001 ctggccagta tgccacctac tgccagcggg cagtggagcg gaccctgcgg accggggagc
     3061 gggaagccag gccatcgcgc atggaagtgg tgtccatcct gctgcgtaac cccttccacc
     3121 actccttgcc cttcagcatc cccgtgcact ttaccaacgg gacttaccat gtggttggtt
     3181 ttgacggctc ttccacggtt gatgagttcc tccagcggct gaaccaggag ataggcatga
     3241 gaaagccatc ccactctggc tttgccctct tcacggacga tccctcgggc agggacctgg
     3301 agcactgcct gcagggaagt gtcaagatct gtgatgccat ctccaagtgg gaacaagcca
     3361 tgaaggagct gcaccccgga aagtctgagg gtgggacacg cgtcgtgaag ctgatgtaca
     3421 agaacaggct gtactttcgc agtcaagtca aaggggagac ggaccgagaa cggctgctcc
     3481 ttgcctctca aaccagtaga gagatagtgg cagggaggtt tcctatcaac aaggaattgg
     3541 ctcttgagat ggctgccctg atggcccagg tagaatatgg ggacttggag aagcctgccc
     3601 tgccaggccc tggaggcaca tcccctgcca aggctcagca tcttctccag caggtcctag
     3661 acaggttcca ccccaggcgc tatagacatg gggcccccgc tgaacagctg aggcacctgg
     3721 cagatatgtt gaccacaaaa tgggcaacat tgcaaggatg ctcccctcct gagtgcatcc
     3781 gcatctacct gaccgtggcc aggaaatggc ctttctttgg tgctaaactt tttgctgctc
     3841 agcctgccca gctgtcttcc aaggagaacg ctctggtgtg gattgctgtg aatgaggatg
     3901 gcgtcagcat cctggaccac aacactatgc aagtgcacat cacttacccc tactcttcag
     3961 tgacaacgtt tggtggctgc agggatgact tcatgcttgt gattagatct atcccagaca
     4021 agagctctgg aaaaagccac attgagaagt tgatcttccg gatggctgct cccaagattg
     4081 cagaagctac cttcatcatg gccagctata tgaaccattg cactacaact gtgaaccccc
     4141 ccaccaaccc acccggagcc tgccagctgt gggaactgga tggacgacag ttcttttctt
     4201 ctgtttcctg tgctaccaag gggccaacgt tgctgtgaat atttctccta cccgattccc
     4261 caacaccact agtgcctctg gatttagaga tatatatcct agggtatgat actactgtga
     4321 cgggtctaac agcccccggc tactcttgtt ctgtgaaatg tgtattttag tctctgtgaa
     4381 gcctttactc tctaggtgcc ttataatgtt tcagggctca actttttaaa atccagaccc
     4441 agtgttaaaa ccatttattc cttttttcat aagaataatg actccagatg ctacctgatt
     4501 ctagacatag acagggatga tccactgtta ctgagggcat cagtgctata agttaaggct
     4561 ttctgcactg gtactctcaa ggaagctaat tttctttctg gggggggcgg gggacacagt
     4621 gtcactatgt cacccagtcc acagggttca agcaattctc ctgcctcagc cttcggagtg
     4681 gctgggatta caggtgtgcg ccaccatgcc cggctaattt ttgtattttt agtagagacg
     4741 gggtttcacc atgttggcca ggctggtctc gaactcctga cctcaggtga tctgcccact
     4801 ttggcctccc aaagtgctgg gattacaggc atgagccatc gcccagccca gaagctaatt
     4861 ttttaatatt gtatatggtc ttatttatac ttgaagtttt gtgaacgtcg ctaaacagga
     4921 taggactaaa atttccaatt ctcctacact ctgtcagaag cctagaactc actaaactgg
     4981 gctgcctttc ccaaatggga aaggtgctga cagagttgga gaaaaaagaa tagactcatt
     5041 tttccccatt attggtatgt aggcattggt acagcccctt ctggggcagt ctttgcagga
     5101 taacatgcta tacctgctaa gattcaagct gttttcctca cactggactt taggccaaac
     5161 ccagtaccac gcaatgtgca agcaagggca ggaggtaggt ccaatctgac ccctccctgt
     5221 ctcattttaa tgactggaca gcgctcggtg aaggctgtgt tcactgtagt gggccatcat
     5281 ttgtttcctt cttcttgtaa aagaccaagc aaatgcactc tgctttttgc tgctgtaaga
     5341 ccaccaaaaa tgagtcagaa acacagaaga ctatttcagg catgtgggcc tggatatgct
     5401 ccttgagact tctggcaaac ttctgctggg aattagtttg agggtgaggg tacatatgtg
     5461 acatttgccc tagcctaaga gtagcaggta aaaaaaagtt tctttcatct tttgccttac
     5521 tgataatacc ataatccccc tcaattcaga ccttctgatt gagtgcagag gagactagac
     5581 agtctcctct agacaggttg tagacacacc ctcccctaac aaaaacaaaa cgaaagagtt
     5641 catactctga ttttccaaca tctaggaaac tgagttttat ttcctagctc taaggcagcc
     5701 ttactatatg tcagtaaagt gctgaaaact gtatatttag cagtagcacc caaaaccaag
     5761 cctttaaccc caacaatgtg tgtatctttt gcacagcaaa aactgcgagg ccagaactag
     5821 tttatctgaa cacctcagct gctgtaagct tctcctctct caccccgtaa actgacaagc
     5881 atgatgaaaa aagaagcaca tccaagtttc tgcctctttt aaatgtactt gactttgcaa
     5941 ggcaagtagt tttacagcca tttctgttca cacttttcac cccacaactt ggggatctag
     6001 ctgagacatt tctacctcga acaagtcaca tgtaccacag gttcctgaat aattcctgca
     6061 gggctggtga cagacataac agctctggtt ttataatatc ttgggtatct ctaaggccaa
     6121 taaggataac attatctacc cagagagttt agaagaaaag taggagtcca aaggaagagt
     6181 aaacaagaat ggagctgtgt tcacactgaa tttggggtca atctatttcc cccaccctct
     6241 ctcctcccca acccttcagg aaccctttag tttattaatc ttatacagaa gaaactaact
     6301 tagaaacaaa ggattcaata tttgcttatt tattctttgt taacatgaga gtcccatgtc
     6361 tgaaaaccaa agtccaattt ctgtctggcc ttttgtctca tccttcttgg caaaagtagc
     6421 ttttgaactg atataaaaaa aaatgctgag taacagaaaa gtattaatgt gcttgacacc
     6481 atgactgaaa tactatgatc ttgtttgtca ataaaaagca gctatctgtg aaccaggtaa
     6541 ctgtgtgttt tggaagatct gtttattaac agtaaataaa taagccctgt acagaacaca
     6601 ggcactaggt tgaca
//
