LOCUS       NM_015164               4134 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens pleckstrin homology and RUN domain containing M2
            (PLEKHM2), transcript variant 1, mRNA.
ACCESSION   NM_015164 XM_290944 XM_938581
VERSION     NM_015164.4
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 4134)
  AUTHORS   Xiao,N., Cao,X., Liu,Z. and Han,Y.
  TITLE     Two germline mutations can serve as genetic susceptibility
            screening makers for a lung adenocarcinoma family
  JOURNAL   J Cancer Res Clin Oncol 149 (9), 6541-6548 (2023)
   PUBMED   36781503
  REMARK    GeneRIF: Two germline mutations can serve as genetic susceptibility
            screening makers for a lung adenocarcinoma family.
REFERENCE   2  (bases 1 to 4134)
  AUTHORS   Korover,N., Etzion,S., Cherniak,A., Rabinski,T., Levitas,A.,
            Etzion,Y., Ofir,R., Parvari,R. and Cohen,S.
  TITLE     Functional defects in hiPSCs-derived cardiomyocytes from patients
            with a PLEKHM2-mutation associated with dilated cardiomyopathy and
            left ventricular non-compaction
  JOURNAL   Biol Res 56 (1), 34 (2023)
   PUBMED   37349842
  REMARK    GeneRIF: Functional defects in hiPSCs-derived cardiomyocytes from
            patients with a PLEKHM2-mutation associated with dilated
            cardiomyopathy and left ventricular non-compaction.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4134)
  AUTHORS   Tunganuntarat,J., Kanjanasirirat,P., Khumpanied,T.,
            Benjaskulluecha,S., Wongprom,B., Palaga,T., Siregar,T.A.P.,
            Borwornpinyo,S., Chaiprasert,A., Palittapongarnpim,P. and
            Ponpuak,M.
  TITLE     BORC complex specific components and Kinesin-1 mediate autophagy
            evasion by the autophagy-resistant Mycobacterium tuberculosis
            Beijing strain
  JOURNAL   Sci Rep 13 (1), 1663 (2023)
   PUBMED   36717601
  REMARK    GeneRIF: BORC complex specific components and Kinesin-1 mediate
            autophagy evasion by the autophagy-resistant Mycobacterium
            tuberculosis Beijing strain.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4134)
  AUTHORS   Marwaha,R., Arya,S.B., Jagga,D., Kaur,H., Tuli,A. and Sharma,M.
  TITLE     The Rab7 effector PLEKHM1 binds Arl8b to promote cargo traffic to
            lysosomes
  JOURNAL   J Cell Biol 216 (4), 1051-1070 (2017)
   PUBMED   28325809
REFERENCE   5  (bases 1 to 4134)
  AUTHORS   Muhammad,E., Levitas,A., Singh,S.R., Braiman,A., Ofir,R.,
            Etzion,S., Sheffield,V.C., Etzion,Y., Carrier,L. and Parvari,R.
  TITLE     PLEKHM2 mutation leads to abnormal localization of lysosomes,
            impaired autophagy flux and associates with recessive dilated
            cardiomyopathy and left ventricular noncompaction
  JOURNAL   Hum Mol Genet 24 (25), 7227-7240 (2015)
   PUBMED   26464484
  REMARK    GeneRIF: The association of PLEKHM2 mutation with dilated
            cardiomyopathy and left ventricular noncompaction supports the
            importance of autophagy for normal cardiac function.
REFERENCE   6  (bases 1 to 4134)
  AUTHORS   Dumont,A., Boucrot,E., Drevensek,S., Daire,V., Gorvel,J.P.,
            Pous,C., Holden,D.W. and Meresse,S.
  TITLE     SKIP, the host target of the Salmonella virulence factor SifA,
            promotes kinesin-1-dependent vacuolar membrane exchanges
  JOURNAL   Traffic 11 (7), 899-911 (2010)
   PUBMED   20406420
REFERENCE   7  (bases 1 to 4134)
  AUTHORS   Diacovich,L., Dumont,A., Lafitte,D., Soprano,E., Guilhon,A.A.,
            Bignon,C., Gorvel,J.P., Bourne,Y. and Meresse,S.
  TITLE     Interaction between the SifA virulence factor and its host target
            SKIP is essential for Salmonella pathogenesis
  JOURNAL   J Biol Chem 284 (48), 33151-33160 (2009)
   PUBMED   19801640
REFERENCE   8  (bases 1 to 4134)
  AUTHORS   Ohlson,M.B., Huang,Z., Alto,N.M., Blanc,M.P., Dixon,J.E., Chai,J.
            and Miller,S.I.
  TITLE     Structure and function of Salmonella SifA indicate that its
            interactions with SKIP, SseJ, and RhoA family GTPases induce
            endosomal tubulation
  JOURNAL   Cell Host Microbe 4 (5), 434-446 (2008)
   PUBMED   18996344
REFERENCE   9  (bases 1 to 4134)
  AUTHORS   Jackson,L.K., Nawabi,P., Hentea,C., Roark,E.A. and Haldar,K.
  TITLE     The Salmonella virulence protein SifA is a G protein antagonist
  JOURNAL   Proc Natl Acad Sci U S A 105 (37), 14141-14146 (2008)
   PUBMED   18787122
REFERENCE   10 (bases 1 to 4134)
  AUTHORS   Boucrot,E., Henry,T., Borg,J.P., Gorvel,J.P. and Meresse,S.
  TITLE     The intracellular fate of Salmonella depends on the recruitment of
            kinesin
  JOURNAL   Science 308 (5725), 1174-1178 (2005)
   PUBMED   15905402
  REMARK    GeneRIF: A dynamic process of kinesin recruitment in
            Salmonella-infected cells is down-regulated by the SifA-mediated
            recruitment of SKIP on membranes [SKIP]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY056873.1, AL121992.24,
            AB020649.1 and BC040441.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_015164.3.
            
            Summary: This gene encodes a protein that binds the plus-end
            directed microtubule motor protein kinesin, together with the
            lysosomal GTPase Arl8, and is required for lysosomes to distribute
            away from the microtubule-organizing center. The encoded protein
            belongs to the multisubunit BLOC-one-related complex that regulates
            lysosome positioning. It binds a Salmonella effector protein called
            Salmonella induced filament A and is a critical host determinant in
            Salmonella pathogenesis. It has a domain architecture consisting of
            an N-terminal RPIP8, UNC-14, and NESCA (RUN) domain that binds
            kinesin-1 as well as the lysosomal GTPase Arl8, and a C-terminal
            pleckstrin homology domain that binds the Salmonella induced
            filament A effector protein. Naturally occurring mutations in this
            gene lead to abnormal localization of lysosomes, impaired autophagy
            flux and are associated with recessive dilated cardiomyopathy and
            left ventricular noncompaction. [provided by RefSeq, Feb 2017].
            
            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 :: BC040441.1, SRR1803616.82358.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375799.8/ ENSP00000364956.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-124               HY056873.1         18-141
            125-125             AL121992.24        148620-148620
            126-236             HY056873.1         143-253
            237-4132            AB020649.1         1-3896
            4133-4134           BC040441.1         4124-4125
FEATURES             Location/Qualifiers
     source          1..4134
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     gene            1..4134
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /note="pleckstrin homology and RUN domain containing M2"
                     /db_xref="GeneID:23207"
                     /db_xref="HGNC:HGNC:29131"
                     /db_xref="MIM:609613"
     exon            1..299
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /inference="alignment:Splign:2.1.0"
     CDS             240..3299
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /note="isoform 1 is encoded by transcript variant 1; SifA
                     (Salmonella-induced filaments A) and kinesin-interacting
                     protein; PH domain-containing family M member 2;
                     pleckstrin homology domain containing, family M (with RUN
                     domain) member 2; novel RUN and PH domain-containing
                     protein"
                     /codon_start=1
                     /product="pleckstrin homology domain-containing family M
                     member 2 isoform 1"
                     /protein_id="NP_055979.2"
                     /db_xref="CCDS:CCDS44063.1"
                     /db_xref="GeneID:23207"
                     /db_xref="HGNC:HGNC:29131"
                     /db_xref="MIM:609613"
                     /translation="MEPGEVKDRILENISLSVKKLQSYFAACEDEIPAIRNHDKVLQR
                     LCEHLDHALLYGLQDLSSGYWVLVVHFTRREAIKQIEVLQHVATNLGRSRAWLYLALN
                     ENSLESYLRLFQENLGLLHKYYVKNALVCSHDHLTLFLTLVSGLEFIRFELDLDAPYL
                     DLAPYMPDYYKPQYLLDFEDRLPSSVHGSDSLSLNSFNSVTSTNLEWDDSAIAPSSED
                     YDFGDVFPAVPSVPSTDWEDGDLTDTVSGPRSTASDLTSSKASTRSPTQRQNPFNEEP
                     AETVSSSDTTPVHTTSQEKEEAQALDPPDACTELEVIRVTKKKKIGKKKKSRSDEEAS
                     PLHPACSQKKCAKQGDGDSRNGSPSLGRDSPDTMLASPQEEGEGPSSTTESSERSEPG
                     LLIPEMKDTSMERLGQPLSKVIDQLNGQLDPSTWCSRAEPPDQSFRTGSPGDAPERPP
                     LCDFSEGLSAPMDFYRFTVESPSTVTSGGGHHDPAGLGQPLHVPSSPEAAGQEEEGGG
                     GEGQTPRPLEDTTREAQELEAQLSLVREGPVSEPEPGTQEVLCQLKRDQPSPCLSSAE
                     DSGVDEGQGSPSEMVHSSEFRVDNNHLLLLMIHVFRENEEQLFKMIRMSTGHMEGNLQ
                     LLYVLLTDCYVYLLRKGATEKPYLVEEAVSYNELDYVSVGLDQQTVKLVCTNRRKQFL
                     LDTADVALAEFFLASLKSAMIKGCREPPYPSILTDATMEKLALAKFVAQESKCEASAV
                     TVRFYGLVHWEDPTDESLGPTPCHCSPPEGTITKEGMLHYKAGTSYLGKEHWKTCFVV
                     LSNGILYQYPDRTDVIPLLSVNMGGEQCGGCRRANTTDRPHAFQVILSDRPCLELSAE
                     SEAEMAEWMQHLCQAVSKGVIPQGVAPSPCIPCCLVLTDDRLFTCHEDCQTSFFRSLG
                     TAKLGDISAVSTEPGKEYCVLEFSQDSQQLLPPWVIYLSCTSELDRLLSALNSGWKTI
                     YQVDLPHTAIQEASNKKKFEDALSLIHSAWQRSDSLCRGRASRDPWC"
     exon            300..406
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            407..516
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            517..616
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            617..704
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            705..891
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            892..951
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            952..1180
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1181..1999
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            2000..2069
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            2070..2160
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            2161..2225
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            2226..2314
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            2315..2447
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            2448..2638
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            2639..2704
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            2705..2864
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            2865..3044
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            3045..3161
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /inference="alignment:Splign:2.1.0"
     exon            3162..4134
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4113..4118
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /note="hexamer: AATAGA"
     polyA_site      4134
                     /gene="PLEKHM2"
                     /gene_synonym="SKIP"
                     /note="major polyA site"
ORIGIN      
        1 gcacagcccg cggcctcctt ccccgccggc cgcgctccgg agcctccggg ccgcggtgga
       61 gcgagggccc aggcgaggcg agggccgggc ggcgggcgcc gggccccgcg gccggcacga
      121 cggagccccc gtacggccgg cggcagcggt tggcggcggc ccccggcccc cggcgcggga
      181 agcggcggcg gggcggcggc ggcggtggcg gtggcggtgg cggcgacggt ggcagcgcca
      241 tggagccggg ggaggtgaag gaccggatcc tggagaacat ctcgctgtcg gtgaagaagt
      301 tgcagagcta ttttgctgca tgtgaggatg agatccctgc catccggaac catgacaagg
      361 tcctacagcg tctgtgtgag cacctggacc acgccctgct gtacggactg caagacctct
      421 cctctggcta ctgggtgctc gtggtgcatt ttactcggag agaggccatc aagcagatcg
      481 aggtgctgca gcacgtggcc accaacctgg ggcgcagccg tgcctggctg tacctggccc
      541 tcaacgagaa ctccttggag agctacctgc ggttgttcca ggagaacctg ggcctgctgc
      601 ataagtacta cgtcaagaat gccctggtct gcagccacga tcacctgacg ctcttcctga
      661 ccttggtgtc cgggctagag ttcattcgtt tcgagctgga tctggatgcc ccttacctag
      721 acctggcccc ctacatgccc gactactaca aacctcagta cctgctggac tttgaagacc
      781 gccttcccag ctcggtccac ggctcagaca gtctgtccct caactctttc aactccgtca
      841 cctccaccaa cctggagtgg gatgacagtg cgattgcccc atctagtgag gattatgatt
      901 ttggagatgt gtttccagca gtgccgtctg tacccagcac agactgggaa gatggagacc
      961 tcacagacac ggtcagtggt ccccgctcca cagcctccga cctgaccagc agcaaggcct
     1021 ccaccaggag ccccacccag cgccagaacc ccttcaacga ggagccggca gagactgtgt
     1081 cctcctctga caccaccccc gtgcacacca cctctcagga gaaggaggag gcccaggccc
     1141 tggacccgcc ggatgcctgc acggagctcg aggtcatcag ggtcaccaag aagaagaaaa
     1201 ttggcaagaa gaaaaagagc agatcagatg aggaggcaag tccactccac cccgcctgca
     1261 gccagaagaa atgtgccaag cagggggacg gtgacagccg caacggcagc ccaagccttg
     1321 ggcgggactc gccagacact atgcttgcct ccccccagga ggagggagag gggccgagca
     1381 gcaccacgga gagcagcgag cgctccgagc cgggcctgct gatccctgag atgaaggaca
     1441 cctccatgga gcgcttgggg cagcccctga gcaaggttat cgaccagctc aacgggcagc
     1501 tggaccccag cacctggtgc tcccgtgctg agcccccaga ccagtccttt cggaccggct
     1561 ctcccgggga tgccccggag aggccgccgc tttgcgactt tagtgagggg ctttcagccc
     1621 caatggactt ctaccgcttt accgtcgaga gtccaagcac tgttacatca ggtggcggcc
     1681 accatgaccc tgcagggctt ggccaaccgc tgcatgttcc tagtagccct gaggctgctg
     1741 gccaagaaga agagggagga ggaggagagg gacagacgcc tcggccccta gaggatacca
     1801 cgagggaggc tcaggagctg gaggcccagc tgtccctggt cagggagggg cctgtgtctg
     1861 agccagagcc tgggacccag gaggttctct gccagctcaa gcgagaccag cccagcccgt
     1921 gtctgagtag cgctgaggat tctggggtgg atgagggaca ggggagccct tcggagatgg
     1981 tccattcctc ggagttcaga gtagacaaca atcacctgct cctgctcatg atccacgtgt
     2041 tccgagaaaa cgaagagcag ctgttcaaaa tgatccggat gagcaccggg cacatggagg
     2101 gcaacctgca gctgctgtac gtgctgctca cagactgcta tgtctacctg ctccggaaag
     2161 gggccacaga gaagccatac ctggtggaag aggccgtttc ttacaatgaa cttgactatg
     2221 tgtcggttgg ccttgaccag cagacggtga agctggtgtg caccaaccgc aggaagcagt
     2281 ttctgctgga cacggctgat gtggcgctgg ctgagttctt tttggcttct ttgaagtcag
     2341 ccatgatcaa aggctgtcga gaacctccct accccagcat cctgacggat gccaccatgg
     2401 agaagctggc actggccaaa tttgtggccc aagaatcgaa gtgtgaggca tctgctgtca
     2461 ccgtgcgctt ctacggcctt gtgcactggg aggaccccac agacgagtcc ctgggcccca
     2521 cgccctgcca ctgctcaccc cccgagggca ccatcaccaa agaaggcatg ctgcactaca
     2581 aggcgggcac ctcctacctg ggcaaggaac actggaagac gtgcttcgtg gtgctcagca
     2641 acgggatcct ctaccagtac ccggaccgca ccgacgtcat ccctctgctc tcggtgaaca
     2701 tgggggggga gcagtgcggt ggctgccgga gagccaacac cacggatcgg ccccacgcct
     2761 tccaggtcat tctctccgac cggccctgcc tggagctaag tgccgagagc gaggccgaga
     2821 tggccgagtg gatgcagcat ctctgccagg ctgtgtccaa aggggtcatc ccccagggcg
     2881 tagctcccag cccctgcata ccctgctgcc tggtcctcac ggatgaccgc ctctttacgt
     2941 gccatgagga ttgccagacc agcttcttcc gctctttggg cacagccaag ctgggcgaca
     3001 tcagcgccgt ctccaccgag ccgggcaagg agtactgcgt cttggagttc tcccaggaca
     3061 gccagcagct cctcccgccc tgggtcatct acctgagctg cacttctgaa ctggaccgat
     3121 tgctgtctgc actgaactct gggtggaaaa ccatctatca ggtggacctc ccccacacgg
     3181 cgatccagga agcctccaac aagaagaaat tcgaggatgc cttgagcctc atccacagcg
     3241 cctggcagcg gagcgacagt ctctgccgcg gccgagcctc ccgagacccc tggtgctgag
     3301 gcagagctgg ttggcgtccc tggtgggcag gaaaggaagg cacgccagcc ggcaggcaca
     3361 ctgtcacggc tgttgtcatg ctgtcgggag cctacagtcc acccctgccc tgggcggcag
     3421 aaccaccgag tgtggcttaa gacagggtcc ctccactcca gggatccaga tcaggtgccc
     3481 ggcacccctg ggcatcctgc ccgacaggta gcgaatggag gtcgctgggg gcagagggtc
     3541 cgagccctgt gggctctgcg gatgcacgcc ctcctcccgg gcctccgcct cagtctgcag
     3601 aatttctgcc gagtggcacc gagaacacca tccatctaag gacgaacaaa agaaccagga
     3661 gggcgggacc cccctcttcc tctcctgggt tgggggctgg ggccctgagt gcccagccat
     3721 ccttgttcgt gtttgaacac tctcctggcc acgtggggaa gcgggaacac ggggtgtctg
     3781 cgcatgtttc ctcctcctag ctccatcact gcgcacacag ctgcctgcct cgccagatgc
     3841 aggggggcgg gcagccctcc ctggctgcca ggaggctctg catgcccaca gtcctgccct
     3901 gcctgtcccc tcaacccggc agtgcctgta gcaccgagga gcaaaggggg tggatggggg
     3961 gcttggagaa gggcggagcc caccagcctg gcatccatgt tgacatcttc tgactgtccc
     4021 ctgcttggct ggagccaggc ccttccctag agtttcgtca agagcctcct ggggaagggg
     4081 tcaggtggtt tgggttttgt tttttaaaat aaaatagaca tgttatattg ccaa
//
