LOCUS       NM_001412868            4980 bp    mRNA    linear   PRI 13-JUN-2024
DEFINITION  Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3),
            transcript variant 7, mRNA.
ACCESSION   NM_001412868 XM_011544469
VERSION     NM_001412868.1
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 4980)
  AUTHORS   Mancina,R.M., Sasidharan,K., Lindblom,A., Wei,Y., Ciociola,E.,
            Jamialahmadi,O., Pingitore,P., Andreasson,A.C., Pellegrini,G.,
            Baselli,G., Mannisto,V., Pihlajamaki,J., Karja,V., Grimaudo,S.,
            Marini,I., Maggioni,M., Becattini,B., Tavaglione,F., Dix,C.,
            Castaldo,M., Klein,S., Perelis,M., Pattou,F., Thuillier,D.,
            Raverdy,V., Dongiovanni,P., Fracanzani,A.L., Stickel,F., Hampe,J.,
            Buch,S., Luukkonen,P.K., Prati,D., Yki-Jarvinen,H., Petta,S.,
            Xing,C., Schafmayer,C., Aigner,E., Datz,C., Lee,R.G., Valenti,L.,
            Linden,D. and Romeo,S.
  TITLE     PSD3 downregulation confers protection against fatty liver disease
  JOURNAL   Nat Metab 4 (1), 60-75 (2022)
   PUBMED   35102341
  REMARK    GeneRIF: PSD3 downregulation confers protection against fatty liver
            disease.
REFERENCE   2  (bases 1 to 4980)
  AUTHORS   Gong,S., Xu,C., Wang,L., Liu,Y., Owusu,D., Bailey,B.A., Li,Y. and
            Wang,K.
  TITLE     Genetic association analysis of polymorphisms in PSD3 gene with
            obesity, type 2 diabetes, and HDL cholesterol
  JOURNAL   Diabetes Res Clin Pract 126, 105-114 (2017)
   PUBMED   28237857
  REMARK    GeneRIF: Common variants in PSD3 were associated with obesity, T2D
            and HDL level
REFERENCE   3  (bases 1 to 4980)
  AUTHORS   Kanamarlapudi,V.
  TITLE     Exchange factor EFA6R requires C-terminal targeting to the plasma
            membrane to promote cytoskeletal rearrangement through the
            activation of ADP-ribosylation factor 6 (ARF6)
  JOURNAL   J Biol Chem 289 (48), 33378-33390 (2014)
   PUBMED   25296758
  REMARK    GeneRIF: EFA6R regulated ARF6 localization and thereby actin stress
            fiber loss.
REFERENCE   4  (bases 1 to 4980)
  AUTHORS   Sandholm,N., Forsblom,C., Makinen,V.P., McKnight,A.J.,
            Osterholm,A.M., He,B., Harjutsalo,V., Lithovius,R., Gordin,D.,
            Parkkonen,M., Saraheimo,M., Thorn,L.M., Tolonen,N., Waden,J.,
            Tuomilehto,J., Lajer,M., Ahlqvist,E., Mollsten,A.,
            Marcovecchio,M.L., Cooper,J., Dunger,D., Paterson,A.D., Zerbini,G.,
            Groop,L., Tarnow,L., Maxwell,A.P., Tryggvason,K. and Groop,P.H.
  CONSRTM   SUMMIT Consortium; FinnDiane Study Group
  TITLE     Genome-wide association study of urinary albumin excretion rate in
            patients with type 1 diabetes
  JOURNAL   Diabetologia 57 (6), 1143-1153 (2014)
   PUBMED   24595857
REFERENCE   5  (bases 1 to 4980)
  AUTHORS   Ong,B.A., Li,J., McDonough,J.M., Wei,Z., Kim,C., Chiavacci,R.,
            Mentch,F., Caboot,J.B., Spergel,J., Allen,J.L., Sleiman,P.M. and
            Hakonarson,H.
  TITLE     Gene network analysis in a pediatric cohort identifies novel lung
            function genes
  JOURNAL   PLoS One 8 (9), e72899 (2013)
   PUBMED   24023788
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4980)
  AUTHORS   Li,J., Liu,F., Wang,H., Liu,X., Liu,J., Li,N., Wan,F., Wang,W.,
            Zhang,C., Jin,S., Liu,J., Zhu,P. and Liu,Y.
  TITLE     Systematic mapping and functional analysis of a family of human
            epididymal secretory sperm-located proteins
  JOURNAL   Mol Cell Proteomics 9 (11), 2517-2528 (2010)
   PUBMED   20736409
REFERENCE   7  (bases 1 to 4980)
  AUTHORS   Xu,J., Zheng,S.L., Isaacs,S.D., Wiley,K.E., Wiklund,F., Sun,J.,
            Kader,A.K., Li,G., Purcell,L.D., Kim,S.T., Hsu,F.C., Stattin,P.,
            Hugosson,J., Adolfsson,J., Walsh,P.C., Trent,J.M., Duggan,D.,
            Carpten,J., Gronberg,H. and Isaacs,W.B.
  TITLE     Inherited genetic variant predisposes to aggressive but not
            indolent prostate cancer
  JOURNAL   Proc Natl Acad Sci U S A 107 (5), 2136-2140 (2010)
   PUBMED   20080650
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 4980)
  AUTHORS   Ng,D., Hu,N., Hu,Y., Wang,C., Giffen,C., Tang,Z.Z., Han,X.Y.,
            Yang,H.H., Lee,M.P., Goldstein,A.M. and Taylor,P.R.
  TITLE     Replication of a genome-wide case-control study of esophageal
            squamous cell carcinoma
  JOURNAL   Int J Cancer 123 (7), 1610-1615 (2008)
   PUBMED   18649358
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 4980)
  AUTHORS   Pils,D., Horak,P., Gleiss,A., Sax,C., Fabjani,G., Moebus,V.J.,
            Zielinski,C., Reinthaller,A., Zeillinger,R. and Krainer,M.
  TITLE     Five genes from chromosomal band 8p22 are significantly
            down-regulated in ovarian carcinoma: N33 and EFA6R have a potential
            impact on overall survival
  JOURNAL   Cancer 104 (11), 2417-2429 (2005)
   PUBMED   16270321
  REMARK    GeneRIF: Down regulated in ovarian cancer or absent in ovarian
            cancer and impact survival.
REFERENCE   10 (bases 1 to 4980)
  AUTHORS   Wang,Y., Han,K.J., Pang,X.W., Vaughan,H.A., Qu,W., Dong,X.Y.,
            Peng,J.R., Zhao,H.T., Rui,J.A., Leng,X.S., Cebon,J., Burgess,A.W.
            and Chen,W.F.
  TITLE     Large scale identification of human hepatocellular
            carcinoma-associated antigens by autoantibodies
  JOURNAL   J Immunol 169 (2), 1102-1109 (2002)
   PUBMED   12097419
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC100849.3, AC009884.8, AC087821.5 and AC090420.6.
            
            On Oct 20, 2022 this sequence version replaced XM_011544469.3.
            
            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 :: SRR14038193.2441719.1,
                                           SRR14038196.802793.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-600               AC100849.3         146655-147254
            601-709             AC009884.8         120636-120744
            710-1817            AC087821.5         103762-104869       c
            1818-2213           AC087821.5         99810-100205        c
            2214-2408           AC090420.6         198090-198284       c
            2409-2489           AC090420.6         197908-197988       c
            2490-2602           AC090420.6         194656-194768       c
            2603-2661           AC090420.6         192681-192739       c
            2662-2751           AC090420.6         158835-158924       c
            2752-4980           AC090420.6         153508-155736       c
FEATURES             Location/Qualifiers
     source          1..4980
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p22"
     gene            1..4980
                     /gene="PSD3"
                     /gene_synonym="EFA6D; EFA6R; HCA67"
                     /note="pleckstrin and Sec7 domain containing 3"
                     /db_xref="GeneID:23362"
                     /db_xref="HGNC:HGNC:19093"
                     /db_xref="MIM:614440"
     exon            1..600
                     /gene="PSD3"
                     /gene_synonym="EFA6D; EFA6R; HCA67"
                     /inference="alignment:Splign:2.1.0"
     CDS             277..2805
                     /gene="PSD3"
                     /gene_synonym="EFA6D; EFA6R; HCA67"
                     /note="isoform 7 is encoded by transcript variant 7;
                     ADP-ribosylation factor guanine nucleotide factor 6; PH
                     and SEC7 domain-containing protein 3; hepatocellular
                     carcinoma-associated antigen 67; pleckstrin homology and
                     SEC7 domain-containing protein 3; epididymis tissue
                     protein Li 20mP; exchange factor for ARF6 D; exchange
                     factor for ADP-ribosylation factor guanine nucleotide
                     factor 6 D"
                     /codon_start=1
                     /product="PH and SEC7 domain-containing protein 3 isoform
                     7"
                     /protein_id="NP_001399797.1"
                     /db_xref="GeneID:23362"
                     /db_xref="HGNC:HGNC:19093"
                     /db_xref="MIM:614440"
                     /translation="MSDESSSPSMGWKHWPVTSATQDLWGMDPRCRDALGCSPPRAVL
                     VHAADGAERTVLRRGAETCQILPRSCKEATGTTAQATRAWLYRYCPAVHTSKGCPAPP
                     ATLPLKAETFVWVNNASAHSQSVAKAKYEFLFGRSEGKAPDTSDHGGSTLLPPNVTNE
                     FPEYGTMEEGGEGLRASLEFDGEALPCHPQEQQGVQPLTGCHSGLDSVTEGPKDVREA
                     PSQSHLKEQSLQPIDSLISALKATEARIISGTLQATKVLDQDAVSSFSVQQVEKELDT
                     ASRKTQRVNKTLPAGQKNLPEIPLSAEVTTEESFYLSIQKDLTALLTGDTQAEISQIM
                     NNGRKGAVCVQEPSCPLASLGSSAVTCHSAGSVGFLKEQRSALGREHPGGCDRSSSMG
                     RPGRVKHVEFQGVEILWTGGDKRETQHPIDFETSLQRTASPDSKESSKVPRHLISSAG
                     LCNSSSLTENVWDESWKAPSERPGTSSGTFSPVRLDESGEDEVFLQENKQHLEKTPKP
                     ERDRERISEQEEHVKGEDEDILGPGYTEDSTDVYSSQFETILDNTSLYYSAESLETLY
                     SEPDSYFSFEMPLTPMIQQRIKEGGQFLERTSGGGHQDILSVSADGGIVMGYSSGVTN
                     GLNDASDSIYTKGTPEIAFWGSNAGVKTTRLEAHSEMGSTEILEKETPENLSNGTSSN
                     VEAAKRLAKRLYQLDRFKRSDVAKHLGKNNEFSKLVAEEYLKFFDFTGMTLDQSLRYF
                     FKAFSLVGETQERERVLIHFSNRYFYCNPDTIASQDGVHCLTCAIMLLNTDLHGHNIG
                     KKMTCQEFIANLQGVNEGVDFSKDLLKGGLRKPKIVAEGEAGTS"
     exon            601..709
                     /gene="PSD3"
                     /gene_synonym="EFA6D; EFA6R; HCA67"
                     /inference="alignment:Splign:2.1.0"
     exon            710..1817
                     /gene="PSD3"
                     /gene_synonym="EFA6D; EFA6R; HCA67"
                     /inference="alignment:Splign:2.1.0"
     exon            1818..2213
                     /gene="PSD3"
                     /gene_synonym="EFA6D; EFA6R; HCA67"
                     /inference="alignment:Splign:2.1.0"
     exon            2214..2408
                     /gene="PSD3"
                     /gene_synonym="EFA6D; EFA6R; HCA67"
                     /inference="alignment:Splign:2.1.0"
     exon            2409..2489
                     /gene="PSD3"
                     /gene_synonym="EFA6D; EFA6R; HCA67"
                     /inference="alignment:Splign:2.1.0"
     exon            2490..2602
                     /gene="PSD3"
                     /gene_synonym="EFA6D; EFA6R; HCA67"
                     /inference="alignment:Splign:2.1.0"
     exon            2603..2661
                     /gene="PSD3"
                     /gene_synonym="EFA6D; EFA6R; HCA67"
                     /inference="alignment:Splign:2.1.0"
     exon            2662..2751
                     /gene="PSD3"
                     /gene_synonym="EFA6D; EFA6R; HCA67"
                     /inference="alignment:Splign:2.1.0"
     exon            2752..4980
                     /gene="PSD3"
                     /gene_synonym="EFA6D; EFA6R; HCA67"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4961..4966
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSD3"
                     /gene_synonym="EFA6D; EFA6R; HCA67"
                     /note="hexamer: ATTAAA"
     polyA_site      4980
                     /gene="PSD3"
                     /gene_synonym="EFA6D; EFA6R; HCA67"
                     /note="major polyA site"
ORIGIN      
        1 ctcttggcag gctgggacct caggcgcaca cagggctcag ctgcccctcc tttgaggctg
       61 ctgcagaagg caggccctga gacggaggaa tcagctgctt tcacttgctc tgctccaaag
      121 gaaaagaagg aagggaggaa aaaatcccag gatccggacg taagcagggg tggtgattgc
      181 agatccccac atcacaggca ttgccaggcc cctgcctcca agacactggg ctggctacag
      241 cccctggcat ggaggcttcc tagcccagct cccatcatga gtgatgaaag cagcagtccc
      301 tccatgggct ggaagcactg gccagtcact tctgccaccc aggatctgtg gggcatggac
      361 ccccgatgca gggatgcctt gggatgctcc cctccaaggg ctgtcctggt ccacgctgca
      421 gatggagcgg aaaggactgt gctgaggaga ggcgccgaga cctgccaaat actccccagg
      481 agctgtaagg aggccacagg taccacagcg caggcgacaa gggcatggct ctacaggtac
      541 tgtccagctg tgcacaccag caagggctgc ccagccccgc ctgccactct gcctctcaag
      601 gcagagacat ttgtttgggt gaacaatgca tctgcacatt cccagagtgt tgccaaggcc
      661 aaatatgaat ttttatttgg cagatctgaa gggaaagctc cagatactag tgatcatgga
      721 ggaagcactt tactcccacc aaatgtcaca aatgaatttc cagaatatgg gaccatggag
      781 gaaggtggag aaggcctaag ggcttctctg gaatttgatg gtgaggctct gccatgccac
      841 ccacaagagc agcagggtgt ccagcctctt actggctgcc actctgggct cgacagtgtt
      901 acagaaggac caaaagatgt cagagaggcc ccctctcaaa gtcatctcaa ggaacaaagt
      961 ttacagccca ttgactcttt gatttcagct ctgaaagcca cagaagccag aatcatttcc
     1021 ggaacattac aggctacaaa ggtactggac caagatgctg tttctagttt ttcagttcag
     1081 caggtggaaa aagagctgga cactgccagt cgtaaaacac agagagtcaa caaaacgctc
     1141 cctgctggcc aaaaaaattt accagaaata cctctttcag ctgaagtaac aacggaggaa
     1201 agtttttatt tgagcatcca gaaagatctc accgcgctgt taactggaga cactcaggca
     1261 gagatttccc agataatgaa taatgggagg aaaggggctg tctgtgtgca ggagccatct
     1321 tgtcctttgg cctccctcgg gagctcagca gtgacctgcc actctgcagg cagtgttggt
     1381 ttcttgaaag agcagaggtc tgctcttggg agagagcacc cagggggatg tgatcgaagc
     1441 agctccatgg gacgcccagg ccgggtcaaa catgtggaat ttcaaggagt ggaaatactg
     1501 tggacaggag gagacaagag agagacccag catcctatag attttgagac atcactgcaa
     1561 agaacagcct ctcctgacag caaagagtct tccaaagtgc cacgccatct catctcatca
     1621 gctggtttgt gtaattcaag tagtttaact gagaatgttt gggatgaatc ctggaaagct
     1681 ccttcagaga ggcctggcac tagctcgggg acattttccc ctgtgcgtct tgatgagagt
     1741 ggagaggatg aagtcttcct acaggaaaac aaacagcatc ttgagaagac acctaaacca
     1801 gagagagaca gggaaaggat cagcgaacaa gaggagcacg ttaaggggga agatgaagac
     1861 atccttgggc ctggatatac ggaggactcc accgacgtgt acagctccca gtttgaaacc
     1921 attttggaca acacttcttt atactacagt gcagagtccc tggagacatt atactcagag
     1981 cctgatagct attttagctt tgaaatgccc ctcactccaa tgatacaaca gcgcattaaa
     2041 gaaggtggtc agttcttgga gaggacatca gggggaggac atcaggatat cctgagtgtg
     2101 tctgcagatg gtggcatcgt gatgggctat tctagtggcg tcaccaatgg gctgaatgat
     2161 gccagcgact ccatctacac gaaaggcacc ccggagattg ctttctgggg aagcaatgct
     2221 ggggtgaaaa caacacggct agaagctcat tctgaaatgg ggagcactga aattttggaa
     2281 aaggagaccc cagaaaatct cagtaatggt accagcagca atgtggaagc agccaaaagg
     2341 ttggccaaac gcctttatca gctggacaga ttcaaaagat cagatgttgc aaaacacctt
     2401 ggcaagaaca acgaatttag caaactagtt gcagaagaat atctgaagtt ttttgatttt
     2461 acaggaatga cgctggatca gtcactcagg tatttcttta aagcattctc tcttgtggga
     2521 gaaactcaag aacgagagag agttttaata cacttctcca atagatattt ttattgtaac
     2581 ccagatacca ttgcttcaca agatggagtc cattgcctta cctgtgcaat aatgcttctt
     2641 aataccgatc tacatggcca caatattgga aagaagatga cctgtcagga gttcattgca
     2701 aatctgcaag gggtaaatga gggtgttgat ttctccaagg atctgctgaa aggaggcctc
     2761 aggaaaccta aaatcgtggc agaaggggag gcaggcacat cttaagtggc cggagcagga
     2821 ggaagagagg aaggaaggag atgctgcaca ctgttaaata accatagctc aggagagctc
     2881 actcgtcatc atgagaacag caccaagggg acagtgctaa cccattcatg agagctccgc
     2941 cctcctgatc caatcacctc ccaacagacc ccacatccag tactacggat tattattcaa
     3001 catgagtttt ggtggggaca caaaccatgt cagatggcct tttgaagtat aggtaaaaga
     3061 cttgttatct tggttattat tccattgcat ttcctgcccc ttctttcacc caaagacatt
     3121 ctcatattta cccctctcaa ctacatgacc aaatcaagac agtcattcat ataacaaaat
     3181 aggccagatc atctggtatg attcacatag tacagataaa cacagaaaaa tttgctactg
     3241 tcttacaagt ttctgattaa ccctgtgatc atgtttctac tggctccacc catcccagcg
     3301 gttggatgtg gtttgtattc aagcatcctt ggggacaatg gaagagaaag gggaggttct
     3361 gctttgggtc tgatagattt tgtaaaacat tcgtaaggct ctaataagta ttacaggtac
     3421 taacgacgtg aataaagagg gataagaatg tagaatgcag gctagctctg tattgtaggc
     3481 tgtgttttga gagacagtac ggtatgagga ttgagattat gatttgagaa ctgtactgac
     3541 tgggttctaa taccaggttc tgtctcttaa tagtcagggg actacgtcaa gtaaatagtg
     3601 tatttcaata tcctcatcta taaaatggga gattttagag tcctcacata tagtaagtat
     3661 tgtctgttag ctattaaaac tttttatttt tgatattatt ttacttagcc taaagtgggc
     3721 tggaaggacc ctatcccttc ctgcaggtat ctggttttaa gactttttag aggcgagtga
     3781 gattagcggc agtagtcaaa acctctaccc accatccctt tttagcttgc tgctttccaa
     3841 agatacatag cctctgctct ttgaaaggaa gcacctgtga cgttgactga aaatgaatct
     3901 tgcttaaccc ttaccttttt accttgttaa cagcctcttt ctcctgggcc tatccttctt
     3961 cccacatttt taaacctgac gtttgatttg cgtttttagt gacttccctc tttgatgcta
     4021 caagagggga agtactaggg tgcattggct cttgaactgg tcctggaatc ttgaagaacc
     4081 tttgaggaag caaactagtt catattctgc taagatccca agattatcct ggaatattga
     4141 tggagatgtg aattacttga agtgattaaa acatccctgg gggagacaag ggttgctaga
     4201 gatgtgcctt cctaatggag aggcgttggt ctgaaggatc aggtccagga attgttggga
     4261 ttctgctttg tctcggggca atttttatgg actcttgact gtgtcagcct ggggacttct
     4321 ttcacccagt cttatcagcg gctgatacca actagtgaag tgttagcttt tgattatgtg
     4381 catatttctg aaactcttca ctctgtagaa taacctttga aaattcataa cagcccagat
     4441 acggaatcat cctaaatgtt catcagcaga cgaatggata aaatgtggta gatatgcaca
     4501 gtggaatatt atttggcctt aaaaaggagg aattctgtca tttgtgacat cgataaatct
     4561 ggaggacgtt tcactaaatg aaataagcca ggcacagaaa gacaaatacc gcatgatctc
     4621 acttacagtg gaatctaaaa aagttgatct cacagattca tggagttaaa tggtggttac
     4681 caggggtctg gggatggtgg ggatttaaac aaagggtaca atttcctttc gactatataa
     4741 ataaatcata gagctttgtt gtatagcatg gtgactatag ttaataacat catattgttt
     4801 gtttgaaaaa tactaggaga atagattttg aatgttctca tcacaaaaca gtatgtgagg
     4861 tgagaaatag gttaattagc tttatttaat cattgtacag tatgtatgtg tactcaaaat
     4921 actgcattgt gcaccacaaa tatatacttt tcatttgtca attaaaacat ttaaaaataa
//
