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2025-05-09 16:53:54, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_020715 6540 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens pleckstrin homology domain containing, family H (with
MyTH4 domain) member 1 (PLEKHH1), mRNA.
ACCESSION NM_020715 XM_375087
VERSION NM_020715.2 GI:110225343
KEYWORDS RefSeq.
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 6540)
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
DA056171.1, AB033026.1, AI792090.1 and AL132640.4.
On Jul 7, 2006 this sequence version replaced gi:55741446.
##Evidence-Data-START##
Transcript exon combination :: BC146787.1, AB033026.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025082, ERS025084 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-24 DA056171.1 93-116
25-1179 AB033026.1 1-1155
1180-1382 AI792090.1 210-412
1383-4086 AB033026.1 1359-4062
4087-6540 AL132640.4 53770-56223 c
FEATURES Location/Qualifiers
source 1..6540
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="14"
/map="14q24.1"
gene 1..6540
/gene="PLEKHH1"
/note="pleckstrin homology domain containing, family H
(with MyTH4 domain) member 1"
/db_xref="GeneID:57475"
/db_xref="HGNC:17733"
/db_xref="HPRD:17862"
exon 1..108
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 109..268
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
CDS 143..4237
/gene="PLEKHH1"
/note="PH domain-containing family H member 1"
/codon_start=1
/product="pleckstrin homology domain-containing family H
member 1"
/protein_id="NP_065766.1"
/db_xref="GI:55741447"
/db_xref="CCDS:CCDS45128.1"
/db_xref="GeneID:57475"
/db_xref="HGNC:17733"
/db_xref="HPRD:17862"
/translation="
MAELKVEAPASVDWQKRCLTLETQLFRFRLQASKIRELLADKMQELEQRLLEAEQRAENAETQVGVMEEKVKLSNLKNVDSEGSLHRKYQELLKAIKGKDELISQLEAQLEKQKQMRAEEAKTVQEKAAKIKEWVTLKLAKLEMENQHLKSHNQRLVEQVGSLQDALEAIQIAPSRKLLVPPYGAAEQDSVPSEPGIQPMGQDSGSQAQGLKAAVLAPSPGALQSKDSVSEAASPLEDSSSSTVHSGETVEAKPLQPHLGRESPPHQPCMKLLTFRCSSASWGEGLVTAQRGMLPGTKTSAREGGPGSSLTLPKVRAPGTPRDSIQLAKRHHSQPQVGHGHFGRVVNIETEAFSALHPSGLPELESRARSREEPEKMEMEEPPPAGKNEERESPKALGAELEEVELGNKPPTPPLHQFSSWESRIYAVATSGMRLSDMSPRSNTACCASSPPALVSPGSFSGLVYKNVTVPVYTALKGRATQISNMPFMDESSGSDDDCSSQASFRISVPSSESRKTSGLGSPRAIKRGVSMSSLSSEGDYAIPPDACSLDSDYSEPEHKLQRTSSYSTDGLGLGGESLEKSGYLLKMGSQVKTWKRRWFVLRQGQIMYYKSPSDVIRKPQGQVDLNSRCQIVRGEGSQTFQLISEKKTYYLTADSPSLLEEWIRVLQSLLKVQATGPPALLRGGTKPTVKGWLTKVKHGHSKVVWCALVGKIFYYYRSHEDKRPLGCLPVRDAHIEEVDRSCDSDEDYEAGGTRRLLSSHCTLVIHPTEHSPTYLLIGTKHEKDTWLYHLTVAAGGSSAKVGTAYEQLIGKLMDGEGDPDSPLWRHPMLCYSKDGLYASLTTLPSEALQTEALKLFKSCQLFINVPVEAASVDYHVSLAQTALQVCLVHPELQSEIYCQLMKQTSCRPPQKYSLMQCWQLLALCAPLFLPQHHFLWYVKQQLQRHADPRSETGQYATYCQRAVERTLRTGEREARPSRMEVVSILLRNPFHHSLPFSIPVHFTNGTYHVVGFDGSSTVDEFLQRLNQEIGMRKPSHSGFALFTDDPSGRDLEHCLQGSVKICDAISKWEQAMKELHPGKSEGGTRVVKLMYKNRLYFRSQVKGETDRERLLLASQTSREIVAGRFPINKELALEMAALMAQVEYGDLEKPALPGPGGTSPAKAQHLLQQVLDRFHPRRYRHGAPAEQLRHLADMLTTKWATLQGCSPPECIRIYLTVARKWPFFGAKLFAAQPAQLSSKENALVWIAVNEDGVSILDHNTMQVHITYPYSSVTTFGGCRDDFMLVIRSIPDKSSGKSHIEKLIFRMAAPKIAEATFIMASYMNHCTTTVNPPTNPPGACQLWELDGRQFFSSVSCATKGPTLL
"
misc_feature 410..655
/gene="PLEKHH1"
/note="TATA element modulatory factor 1 DNA binding;
Region: TMF_DNA_bd; pfam12329"
/db_xref="CDD:204884"
misc_feature 1901..2152
/gene="PLEKHH1"
/note="Pleckstrin homology (PH) domain; Region: PH;
cd00821"
/db_xref="CDD:176270"
misc_feature order(1901..1903,1928..1948,1955..1975,2006..2020,
2030..2044,2060..2074,2075..2077,2087..2104,2117..2152)
/gene="PLEKHH1"
/note="core domain; other site"
/db_xref="CDD:176270"
misc_feature order(1928..1930,1934..1942)
/gene="PLEKHH1"
/note="putative lipid binding motif; other site"
/db_xref="CDD:176270"
misc_feature 2213..2515
/gene="PLEKHH1"
/note="Pleckstrin homology (PH) domain; Region: PH;
cd00821"
/db_xref="CDD:176270"
misc_feature order(2213..2233,2255..2269,2276..2296,2321..2335,
2345..2359,2429..2443,2447..2452,2462..2476,2489..2515)
/gene="PLEKHH1"
/note="core domain; other site"
/db_xref="CDD:176270"
misc_feature order(2228..2230,2255..2263)
/gene="PLEKHH1"
/note="putative lipid binding motif; other site"
/db_xref="CDD:176270"
misc_feature 2636..3100
/gene="PLEKHH1"
/note="Domain in Myosin and Kinesin Tails; Region: MyTH4;
smart00139"
/db_xref="CDD:197536"
misc_feature 3137..3832
/gene="PLEKHH1"
/note="Band 4.1 homologues; Region: B41; smart00295"
/db_xref="CDD:197635"
misc_feature 3455..3832
/gene="PLEKHH1"
/note="FERM central domain; Region: FERM_M; pfam00373"
/db_xref="CDD:201187"
exon 269..331
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 332..481
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 482..565
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 566..647
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 648..1405
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 1406..1484
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 1485..1576
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 1577..1727
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 1728..1870
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 1871..1981
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 1982..2068
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 2069..2230
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 2231..2311
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 2312..2494
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 2495..2603
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 2604..2716
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 2717..2893
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 2894..2991
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 2992..3169
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 3170..3325
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 3326..3426
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 3427..3568
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 3569..3711
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 3712..3841
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 3842..3928
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 3929..4075
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
exon 4076..6540
/gene="PLEKHH1"
/inference="alignment:Splign:1.39.8"
STS 4653..4741
/gene="PLEKHH1"
/standard_name="D8S2279"
/db_xref="UniSTS:473907"
STS 4723..4827
/gene="PLEKHH1"
/standard_name="D11S3114"
/db_xref="UniSTS:152207"
variation complement(6377)
/gene="PLEKHH1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:10162"
variation complement(6435)
/gene="PLEKHH1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1803668"
ORIGIN
gcggcagcccgggactccggcgagagcgacgcaaggtcggctgcggcggcggcccgagggcgcccgtgtgcccagtgcgcggcggggacggccgcgagctcgctggagggctccccagaataatccagaagtcgattccatcatggcagaactcaaggtggaggcgccggccagcgtagactggcagaaacgctgcctgaccctggaaactcagcttttccggttccgcctacaggccagcaagataagggagctgctggctgacaagatgcaggagctggagcagaggctgctggaggcagagcagagagcagagaacgctgagacccaggtgggtgtcatggaagagaaggtaaaactatccaatctgaagaatgtggactctgaggggagcctgcaccggaaataccaagaattgctgaaagccataaagggcaaagatgagctcatcagccagctagaggctcagctggagaagcagaagcagatgagggcagaggaagcaaaaactgttcaagaaaaagctgcaaagatcaaggaatgggtgacactcaagttggcaaagcttgagatggagaatcagcatctgaaaagccataatcagcgcctggtggagcaggtgggatcccttcaagatgcgctagaagctattcagatagctccttcacggaagctgctggtgcccccctacggagctgcagagcaggattctgtcccttcagagccgggaatccagcctatgggccaggacagtggctcccaggcccagggtctgaaggcagctgtgcttgcaccttccccaggtgccctgcagagcaaggactctgtttctgaagcagcaagccccttggaggattctagttccagcacggtccattctggggaaacagtagaggccaagccccttcaacctcatctgggaagagagagccctccccaccagccatgcatgaagcttcttaccttcagatgtagttcagcttcctggggtgagggtctggttactgctcagagagggatgctccctgggacaaagacctctgccagggaaggtggtcctggcagcagtctgaccctaccaaaggtgcgggctcctggcaccccgcgggacagcatccagttggccaaaaggcaccacagccagccccaggtgggccatgggcactttggccgtgtggtgaacattgagactgaggccttctcagccctccacccctctggccttcctgagctggagtcccgagctaggtcccgggaggaaccagagaagatggagatggaggagccacccccagcagggaagaatgaggaaagagagagcccaaaggcccttggagctgagctggaggaagtggagctgggtaacaagccacctacacccccgctgcaccagttttcatcctgggagagccggatctatgctgtggccacatcgggcatgcggctctcagatatgtctcccagaagtaatactgcatgctgcgcttcaagccctcctgcccttgtttcccctgggtctttctctggcctggtctacaagaatgtcactgtgcctgtctacacagcactgaaggggagagctacacagatcagcaacatgccctttatggacgagtcctctgggtctgacgatgactgcagctctcaggcgagtttccgaatctcggtcccctcctctgagtccaggaagaccagcggactaggcagcccccgggccatcaagagaggcgtctccatgtcctcactgagctccgagggtgactacgccatccccccggacgcctgctcactggacagtgactactcagagcctgagcacaaactgcagcgcacctcatcctactccaccgacgggctgggcctgggcggggagtcactggagaagtcgggctacctgctgaaaatggggagccaggtgaagacgtggaagaggcgctggtttgtcctgagacagggacagattatgtactacaagtccccgagtgatgtcatccggaaacctcaaggccaagtggatctgaactcccgctgccaaattgttcgaggggagggttcacagacgtttcagctcatctctgagaagaaaacctactacctgacggccgattcacccagcctgctggaggagtggatccgagtactccagagcctgctgaaggtgcaggccaccgggcctccagctctgcttcggggtggcaccaagcccaccgtgaagggctggctgaccaaggtaaagcatggccactccaaggtggtctggtgcgctcttgttgggaaaatcttctactactatcggagccatgaggacaagcgacccctgggctgcctgcctgtgcgggatgcgcacatagaggaagtagatcgatcctgtgactcagacgaggactatgaggctggaggaaccagacggttgctttcctcccactgcaccctggtgatccaccccacagagcacagccccacctacctcctcattggcaccaagcatgaaaaggatacgtggctctaccacctcacagtggctgcaggtggcagcagtgccaaggtgggcactgcctatgagcagctcattggaaaactgatggatggtgaaggagatccagattcgccgctctggaggcaccccatgctgtgctacagcaaagacggcctatacgcctccctcaccaccctgccctctgaggccttgcagacggaggccctcaagctcttcaagtcctgccagctcttcatcaacgtgccggtggaagctgcctcggtggactaccatgtgtccctggcccagaccgcactgcaggtctgcctggttcaccccgagctgcagagtgagatctactgccaactcatgaagcagaccagctgccgcccacctcagaagtactccctcatgcagtgctggcagctcctcgctctgtgtgctccacttttcctgcctcagcatcacttcctctggtatgtcaagcagcagctccaacgccatgcagatcccagaagtgaaactggccagtatgccacctactgccagcgggcagtggagcggaccctgcggaccggggagcgggaagccaggccatcgcgcatggaagtggtgtccatcctgctgcgtaaccccttccaccactccttgcccttcagcatccccgtgcactttaccaacgggacttaccatgtggttggttttgacggctcttccacggttgatgagttcctccagcggctgaaccaggagataggcatgagaaagccatcccactctggctttgccctcttcacggacgatccctcgggcagggacctggagcactgcctgcagggaagtgtcaagatctgtgatgccatctccaagtgggaacaagccatgaaggagctgcaccccggaaagtctgagggtgggacacgcgtcgtgaagctgatgtacaagaacaggctgtactttcgcagtcaagtcaaaggggagacggaccgagaacggctgctccttgcctctcaaaccagtagagagatagtggcagggaggtttcctatcaacaaggaattggctcttgagatggctgccctgatggcccaggtagaatatggggacttggagaagcctgccctgccaggccctggaggcacatcccctgccaaggctcagcatcttctccagcaggtcctagacaggttccaccccaggcgctatagacatggggcccccgctgaacagctgaggcacctggcagatatgttgaccacaaaatgggcaacattgcaaggatgctcccctcctgagtgcatccgcatctacctgaccgtggccaggaaatggcctttctttggtgctaaactttttgctgctcagcctgcccagctgtcttccaaggagaacgctctggtgtggattgctgtgaatgaggatggcgtcagcatcctggaccacaacactatgcaagtgcacatcacttacccctactcttcagtgacaacgtttggtggctgcagggatgacttcatgcttgtgattagatctatcccagacaagagctctggaaaaagccacattgagaagttgatcttccggatggctgctcccaagattgcagaagctaccttcatcatggccagctatatgaaccattgcactacaactgtgaacccccccaccaacccacccggagcctgccagctgtgggaactggatggacgacagttcttttcttctgtttcctgtgctaccaaggggccaacgttgctgtgaatatttctcctacccgattccccaacaccactagtgcctctggatttagagatatatatcctagggtatgatactactgtgacgggtctaacagcccccggctactcttgttctgtgaaatgtgtattttagtctctgtgaagcctttactctctaggtgccttataatgtttcagggctcaactttttaaaatccagacccagtgttaaaaccatttattccttttttcataagaataatgactccagatgctacctgattctagacatagacagggatgatccactgttactgagggcatcagtgctataagttaaggctttctgcactggtactctcaaggaagctaattttctttctggggggggcgggggacacagtgtcactatgtcacccagtccacagggttcaagcaattctcctgcctcagccttcggagtggctgggattacaggtgtgcgccaccatgcccggctaatttttgtatttttagtagagacggggtttcaccatgttggccaggctggtctcgaactcctgacctcaggtgatctgcccactttggcctcccaaagtgctgggattacaggcatgagccatcgcccagcccagaagctaattttttaatattgtatatggtcttatttatacttgaagttttgtgaacgtcgctaaacaggataggactaaaatttccaattctcctacactctgtcagaagcctagaactcactaaactgggctgcctttcccaaatgggaaaggtgctgacagagttggagaaaaaagaatagactcatttttccccattattggtatgtaggcattggtacagccccttctggggcagtctttgcaggataacatgctatacctgctaagattcaagctgttttcctcacactggactttaggccaaacccagtaccacgcaatgtgcaagcaagggcaggaggtaggtccaatctgacccctccctgtctcattttaatgactggacagcgctcggtgaaggctgtgttcactgtagtgggccatcatttgtttccttcttcttgtaaaagaccaagcaaatgcactctgctttttgctgctgtaagaccaccaaaaatgagtcagaaacacagaagactatttcaggcatgtgggcctggatatgctccttgagacttctggcaaacttctgctgggaattagtttgagggtgagggtacatatgtgacatttgccctagcctaagagtagcaggtaaaaaaaagtttctttcatcttttgccttactgataataccataatccccctcaattcagaccttctgattgagtgcagaggagactagacagtctcctctagacaggttgtagacacaccctcccctaacaaaaacaaaacgaaagagttcatactctgattttccaacatctaggaaactgagttttatttcctagctctaaggcagccttactatatgtcagtaaagtgctgaaaactgtatatttagcagtagcacccaaaaccaagcctttaaccccaacaatgtgtgtatcttttgcacagcaaaaactgcgaggccagaactagtttatctgaacacctcagctgctgtaagcttctcctctctcaccccgtaaactgacaagcatgatgaaaaaagaagcacatccaagtttctgcctcttttaaatgtacttgactttgcaaggcaagtagttttacagccatttctgttcacacttttcaccccacaacttggggatctagctgagacatttctacctcgaacaagtcacatgtaccacaggttcctgaataattcctgcagggctggtgacagacataacagctctggttttataatatcttgggtatctctaaggccaataaggataacattatctacccagagagtttagaagaaaagtaggagtccaaaggaagagtaaacaagaatggagctgtgttcacactgaatttggggtcaatctatttcccccaccctctctcctccccaacccttcaggaaccctttagtttattaatcttatacagaagaaactaacttagaaacaaaggattcaatatttgcttatttattctttgttaacatgagagtcccatgtctgaaaaccaaagtccaatttctgtctggccttttgtctcatccttcttggcaaaagtagcttttgaactgatataaaaaaaaatgctgagtaacagaaaagtattaatgtgcttgacaccatgactgaaatactatgatcttgtttgtcaataaaaagcagctatctgtgaaccaggtaac
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:57475 -> Molecular function: GO:0005543 [phospholipid binding] evidence: IEA
GeneID:57475 -> Cellular component: GO:0005856 [cytoskeleton] evidence: IEA
by
@meso_cacase at
DBCLS
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